1. Gene
  2. FGFR2 - fibroblast growth factor receptor 2 Gene

FGFR2 - fibroblast growth factor receptor 2 Gene

Homo sapiens

Also known as BEK; JWS; BBDS; CEK3; CFD1; ECT1; KGFR; TK14; TK25; BFR-1; CD332; K-SAM

Gene ID: 2263 | Gene type: protein coding

About FGFR2

Cytogenetic location: 10q26.13 Genomic coordinates (GRCh38): 10:121,478,330-121,598,458 (from NCBI)

This gene has 41 transcripts (splice variants), 219 orthologues, 53 paralogues and is associated with 159 phenotypes. Broad expression in skin (RPKM 22.1), thyroid (RPKM 14.8) and 20 other tissues.

Summary

The protein encoded by this gene is a member of the Fibroblast Growth Factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

FGFR2 Products(33)

mRNA Protein Name
XM_024447890.2 XP_024303658.1 fibroblast growth factor receptor 2 isoform X5
NM_023031.1
XM_024447889.2 XP_024303657.1 fibroblast growth factor receptor 2 isoform X8
XM_024447891.2 XP_024303659.1 fibroblast growth factor receptor 2 isoform X9
NM_022976.1
XM_017015921.3 XP_016871410.1 fibroblast growth factor receptor 2 isoform X4
NM_001320654.2 NP_001307583.1 fibroblast growth factor receptor 2 isoform 15
XM_024447888.2 XP_024303656.1 fibroblast growth factor receptor 2 isoform X7
NM_001144917.2 NP_001138389.1 fibroblast growth factor receptor 2 isoform 7 precursor
NM_001144916.2 NP_001138388.1 fibroblast growth factor receptor 2 isoform 6 precursor
NM_001144914.1 NP_001138386.1 fibroblast growth factor receptor 2 isoform 4 precursor
XM_017015924.3 XP_016871413.1 fibroblast growth factor receptor 2 isoform X10
NM_022971.1
XM_006717710.5 XP_006717773.1 fibroblast growth factor receptor 2 isoform X2
NM_022972.1
NM_022975.2
NR_073009.2
NM_023030.1
NM_001144918.2 NP_001138390.1 fibroblast growth factor receptor 2 isoform 8 precursor
NM_022974.1
NM_023028.1
NM_001144915.2 NP_001138387.1 fibroblast growth factor receptor 2 isoform 5 precursor
XM_024447887.2 XP_024303655.1 fibroblast growth factor receptor 2 isoform X6
NM_022973.1
NM_000141.5 NP_000132.3 fibroblast growth factor receptor 2 isoform 1 precursor
NM_001320658.2 NP_001307587.1 fibroblast growth factor receptor 2 isoform 16 precursor
NM_023029.2 NP_075418.1 fibroblast growth factor receptor 2 isoform 11 precursor
XM_006717708.4 XP_006717771.1 fibroblast growth factor receptor 2 isoform X1
NM_022970.3 NP_075259.4 fibroblast growth factor receptor 2 isoform 2 precursor
NM_001144913.1 NP_001138385.1 fibroblast growth factor receptor 2 isoform 3 precursor
XM_017015925.3 XP_016871414.1 fibroblast growth factor receptor 2 isoform X11
XM_017015920.3 XP_016871409.1 fibroblast growth factor receptor 2 isoform X3
NM_001144919.2 NP_001138391.1 fibroblast growth factor receptor 2 isoform 9 precursor

FGFR2 Protein Structure

Ig_2

Ig_2: Immunoglobulin domain (43 - 115)

I-set

I-set: Immunoglobulin I-set domain (172 - 248)

I-set

I-set: Immunoglobulin I-set domain (264 - 359)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (481 - 757)

  • 0
  • 200
  • 400
  • 600
  • 821 a.a.
Protein Preferred Names Protein Names

fibroblast growth factor receptor 2

BEK fibroblast growth factor receptor

bacteria-expressed kinase

keratinocyte growth factor receptor

protein tyrosine kinase, receptor like 14

Related Diseases

Diseases Alias
Beare-Stevenson Cutis Gyrata Syndrome

Cutis Gyrata Syndrome Of Beare And Stevenson

Beare-Stevenson Syndrome

BSTVS

Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome

Beare Stevenson Syndrome

Cutis Gyrata - Acanthosis Nigricans - Craniosynostosis

Cutis Gyrata Syndrome Of Beare-Stevenson

Gastrointestinal Stromal Tumor

GIST

Gastrointestinal Stromal Tumors

Gastrointestinal Stromal Sarcoma

Gastrointestinal Stromal Tumor, Familial

Gant

Gastrointestinal Stromal Tumour

Stromal Tumor Of Gastrointestinal Tract

Stromal Tumour Of Gastrointestinal Tract

Gastrointestinal Stromal Neoplasm

Paraganglioma And Gastric Stromal Sarcoma

Plexosarcoma

Cervical Keratinizing Squamous Cell Carcinoma
Bone Development Disease
Hypertelorism

Eyes Wide Apart

Eyes Widely Set

Hypertelorism Of Orbit

Ocular Hypertelorism

Orbital Separation Excessive

Esophageal Cancer

Esophageal Carcinoma

Carcinoma Of Esophagus

Esophageal Squamous Cell Carcinoma, Somatic

Esophageal Carcinoma, Somatic

Esophagus Cancer

Gastric Cardia Adenocarcinoma

Esophageal Neoplasms

Esophageal Cancer, Somatic

Cancer Of Esophagus

Cancer Of Oesophagus

Carcinoma Of Oesophagus

Ca Lower Third Oesophagus

Ca Middle Third Oesophagus

Malignant Neoplasm Of Distal Third Of Esophagus

Malignant Neoplasm Of Lower Third Of Oesophagus

Malignant Neoplasm Of Middle Third Of Oesophagus

Malignant Neoplasm Of Proximal Third Of Esophagus

Malignant Neoplasm Of Upper Third Esophagus

Malignant Tumor Of Abdominal Esophagus

Malignant Tumor Of Distal Third Of Esophagus

Malignant Tumor Of Proximal Third Of Esophagus

Malignant Tumor Of The Middle Third Of The Esophagus

ESCR

Aerodigestive Tract Cancer

Escc

Esophageal Squamous Cell Carcinoma

Cancer, Esophageal

Malignant Neoplasm Of Esophagus

Squamous Cell Carcinoma Of Esophagus

Malignant Neoplasm Of Middle Third Of Esophagus

Pfeiffer Syndrome

Infectious Mononucleosis

Acs5

Craniofacial-Skeletal-Dermatologic Dysplasia

Acs V

Noack Syndrome

Gammaherpesviral Mononucleosis

Acrocephalosyndactyly Type 5

Pfeiffer Syndrome Type 3

Acrocephalosyndactyly, Type V

Glandular Fever

Pfeiffer Type Acrocephalosyndactyly

Pfeiffer Syndrome Type 2

Acrocephalosyndactylia Type V

Filatov'S Disease

Monocytic Angina

Mononucleosis

Pfeiffer'S Disease

Acsv

Acrocephalosyndactyly, Type 5

Craniofacial-Skeletal-Dermatologic Syndrome

Pfeiffer Syndrome Type 1

Classic Pfeiffer Syndrome

PS

Pfeiffer Syndrome Variant

Dysplasia, Craniofacial-Skeletal-Dermatologic

Pfeiffer

Kissing Disease

Infectious Adenitis

Pfeiffer Disease

Skin Disease

Skin Diseases

Abnormality Of The Skin

Skin Diseases, Genetic

Genodermatosis

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Endometrial Adenocarcinoma

Endometrial Endometrioid Adenocarcinoma

Endometrial Adenoacanthoma

Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation

Adenocarcinoma Of Endometrium

Adenocarcinoma Of The Endometrium

Adenocarcinoma Of Uterus

Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation

Endometrioid Adenoma Or Carcinoma

Endometrioid Adenomas And Carcinomas

Endometrioid Carcinoma Of Endometrium

Endometrium Adenocarcinoma

Hypospadias

Hypospadias Familial

Familial Hypospadias

Chronic Inflammation Of Lacrimal Passage
Osteoporosis

Postmenopausal Osteoporosis

Osteoporosis, Postmenopausal

Bone Mineral Density Quantitative Trait Locus

Bmnd

Osteoporosis, Involutional

Osteoporosis, Susceptibility To

Osteoporosis, Postmenopausal, Susceptibility

Bone Mineral Density Variation Qtl, Osteoporosis

OSTEOP

Involutional Osteoporosis

Senile Osteoporosis

Osteoporosis Postmenopausal

Bone Mineral Density, Quantitative Trait Locus

Osteoporosis, Senile

Idiopathic Osteoporosis

Bone Rarefaction Nos

Type 1 Osteoporosis

Hypochondroplasia

HCH

Hypochondrodysplasia

Chondrogenesis Imperfecta

Hypochondroplastic Dwarfism

Hypochondroplastic Short Stature

Hemifacial Hyperplasia

Facial Asymmetry

Hemifacial Hypertrophy

Facial Hemihypertrophy

Asymmetric Face

Disorder Of Sexual Development

Disorder Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Disorders Of Sex Development

Sex Differentiation Disorders

Exophthalmos

Proptosis

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia

Isolated Growth Hormone Deficiency Type Ia

Primordial Dwarfism

Sexual Ateleiotic Dwarfism

Pituitary Dwarfism I

IGHD1A

Illig-Type Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, Type Ia

Congenital Ighd Type Ia

Congenital Isolated Gh Deficiency Type Ia

Congenital Isolated Growth Hormone Deficiency Type Ia

Pituitary Dwarfism 1

Growth Hormone Deficiency, Isolated, Autosomal Recessive

Autosomal Recessive Isolated Growth Hormone Deficiency

Isolated Growth Hormone Deficiency Type 1a

Congenital Ighd

Congenital Isolated Gh Deficiency

Congenital Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated Autosomal Recessive

Illig Type Growth Hormone Deficiency

Non-Acquired Isolated Growth Hormone Deficiency

Growth Hormone Deficiency, Isolated, 1a

Growth Hormone Deficiency Isolated Autosomal Recessive

Dwarfism, Primordial

Dwarfism

Nevus, Epidermal

Epidermal Nevus

Woolly Hair Nevus

Epidermal Naevus

Epidermal Nevus Syndrome

Nevus, Keratinocytic, Nonepidermolytic

Epidermal Nevus, Somatic

Nevus, Epidermal, Somatic

Nevus Sebaceous Or Woolly Hair Nevus, Somatic

Nonepidermolytic Keratinocytic Nevus

Epidermal Hamartoma Syndrome

Wooly Hair Nevus

Keratinocytic Non-Epidermolytic Nevus

KNEN

Pigmented Moles

Organoid Nevus Phakomatosis

Nevus Sebaceous

Melanocytic Nevus

Melanocytic Nevus Of Skin

Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia, Pakistani Type

Spondyloepimetaphyseal Dysplasia, Papss2 Type

BCYM4

Semd, Pakistani Type

Spondylodysplasia And Premature Pubarche

Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes

Spondyloepimetaphyseal Dysplasia Pakistani Type

Semd Pakistani Type

Spondylometaepiphyseal Dysplasia Pakistani Type

Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes

Acanthoma
Bone Disease

Bone Diseases

Skeletal Disease

Skeletal Disorder

Disorder Of Skeletal System

Non-Syndromic Unicoronal Craniosynostosis

Isolated Frontal Plagiocephaly

Isolated Unicoronal Craniosynostosis

Non-Syndromic Anterior Synostotic Plagiocephaly

Non-Syndromic Frontoparietal Craniosynostosis

Non-Syndromic Hemicoronal Craniosynostosis

Non-Syndromic Unilateral Coronal Synostosis

Craniosynostosis, Nonsyndromic Unicoronal

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Syndactyly, Type I

Sd1

Zygodactyly

Syndactyly, Type 1, With Or Without Craniosynostosis

Non-Syndromic Syndactyly

Symphalangism

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Thanatophoric Dysplasia, Type I

Thanatophoric Dysplasia

Thanatophoric Dwarfism

Thanatophoric Dysplasia Type 1

TD1

Td

Thanatophoric Short Stature

Thanatophoric Dwarfism Type 1

Thanatophoric Dysplasia Type I

Platyspondylic Lethal Skeletal Dysplasia, San Diego Type

Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type

Skeletal Dysplasia, San Diego Type

Plsd San Diego Type

Thanatophoric Dwarfism 1

Dwarfism Thanatophoric

Dwarf, Thanatophoric

Thanatophoric Dysplasia 1

Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type

Platyspondylic Lethal Skeletal Dysplasia San Diego Type

Thanatophoric Dwarf

Thanatophoric Dwarfism Or Short Stature

Thanatophoric Dwarfism Syndrome

Td - [Thanatophoric Dwarfism]

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Aural Atresia, Congenital

CAA

Aural Atresia, Congenital, With Hyposmia

Syringomyelia

Hydromyelia

Pigmentation Disease

Pigmentation Disorders

Skin Pigmentation Disorder

Ankylosis
Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Familial Scaphocephaly Syndrome
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis

ABS2

Trapezoidocephaly-Synostosis Syndrome

Multisynostotic Osteodysgenesis With Long Bone Fractures

Antley-Bixler Syndrome, Without Genital Anomalies Or Disordered Steroidogenesis

Osteodysgenesis, Multisynostotic, With Fractures

Osteodysgenesis Multisynostotic With Fractures

Antley-Bixler Syndrome, Autosomal Dominant

Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Gallbladder Disease

Gallbladder Diseases

Gall Bladder

Gall Bladder Diseases

Abnormal Gallbladder Function

Intrahepatic Cholangiocarcinoma

Cholangiocarcinoma

Intrahepatic Bile Duct Carcinoma

Peripheral Cholangiocarcinoma

Peripheral Intrahepatic Cholangiocarcinoma

Adenocarcinoma Of Intra-Hepatic Bile Ducts

Cholangiocarcinoma, Unspecified Site

Cholangiocarcinoma Of Liver

Uterine Carcinosarcoma

Carcinosarcoma Of The Corpus Uteri

Mixed Mullerian Sarcoma Of Uterus

Malignant Mixed Müllerian Tumor Of The Corpus Uteri

Malignant Mixed Müllerian Tumor Of Corpus Uteri

Mixed Müllerian Cancer Of Corpus Uteri

Malignant Mixed Mullerian Tumor Of The Corpus Uteri

Mixed Mullerian Cancer Of Corpus Uteri

Uterine Corpus Carcinosarcoma

Exposure Keratitis

Exposure Keratoconjunctivitis

Lagophthalmic Keratitis

Bladder Cancer

Urinary Bladder Cancer

Bladder Carcinoma

Urinary Bladder Carcinoma

Bladder Neoplasm

Bladder Tumor

Cancer, Bladder

Malignant Neoplasm Of Urinary Bladder

Carcinoma Of Bladder

Bladder Cancer, Somatic

Tumor Of The Bladder

Carcinoma Of Urinary Bladder

Bladder Carcinoma Urinary

Cancer Of The Urinary Bladder

Cancer, Urinary Bladder

Malignant Bladder Neoplasm

Malignant Bladder Tumor

Neoplasm Of The Bladder

Neoplasm Of The Urinary Bladder

Tumor Of The Urinary Bladder

Urinary Bladder Neoplasm

BLC

Urothelial Carcinoma Of The Bladder

Bladder Tumors

Urinary Bladder Neoplasms

Bladder Cancer Nos

Vesical Cancer Nos

Malignant Neoplasm Of Bladder, Part Unspecified

Malignant Tumour Of Urinary Bladder

Primary Malignant Neoplasm Of Bladder

Bile Duct Cancer

Bile Duct Carcinoma

Extrahepatic Bile Duct Carcinoma

Carcinoma Of Extrahepatic Bile Duct

Extrahepatic Bile Duct Cancer

Bile Duct Neoplasms

Bile Duct Tumor

Ca Extrahepatic Bile Ducts

Malignant Neoplasm Of The Extrahepatic Bile Duct

Bile Duct Extrahepatic Carcinoma

Malignant Tumor Of Extrahepatic Bile Duct

Apert Syndrome

Acrocephalosyndactyly Type I

Acs1

Acrocephalosyndactylia

Acs I

Apert-Crouzon Disease

Acrocephalosyndactyly

Acrocephalosyndactyly Type 1

Acrocephalosyndactyly, Type I

Acs 1

Acrocephalo-Syndactyly Type 1

Syndactylic Oxycephaly

Apert'S Syndrome

Type I Acrocephalosyndactyly

APRS

Jackson-Weiss Syndrome

JWS

Craniosynostosis, Midfacial Hypoplasia, And Foot Abnormalities

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities Syndrome

Craniosynostosis-Midfacial Hypoplasia-Foot Abnormalities

Scoliosis
Pancreatic Cancer

Pancreatic Carcinoma

Familial Pancreatic Carcinoma

Pancreatic Neoplasm

Carcinoma Of Pancreas

Pancreatic Carcinoma, Familial

Malignant Neoplasm Of Pancreas

Pancreatic Acinar Carcinoma

Pancreatic Tumor

Familial Pancreatic Cancer

Neoplasm Of The Pancreas

Pancreatic Carcinoma, Somatic

Pancreatic Cancer, Somatic

Ca Body Of Pancreas

Ca Head Of Pancreas

Ca Tail Of Pancreas

Malignant Neoplasm Of Body Of Pancreas

Malignant Neoplasm Of Head Of Pancreas

Malignant Neoplasm Of Tail Of Pancreas

Pancreas Neoplasm

Exocrine Cancer

Exocrine Pancreas Carcinoma

Hereditary Pancreatic Cancer

Hereditary Pancreatic Carcinoma

PNCA

Cancer Of The Pancreas

Pancreatic Cancer, Susceptibility To

Carcinoma Of Head Of Pancreas

Pancreatic Neoplasms

Pancreatic Tumors

Cancer, Pancreatic

Cancer Of Pancreas

Mixed Islet Cell With Exocrine Carcinoma Of Unspecified Site

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Cancer Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Gastroesophageal Adenocarcinoma

Gastric And Esophageal Adenocarcinoma

Gastro-Esophageal Adenocarcinoma

Gastroesophageal Junction Adenocarcinoma

Adenocarcinoma Of Cardioesophageal Junction

Adenocarcinoma Of Gastroesophageal Junction

Adenocarcinoma Of The Gastroesophageal Junction

Peters-Plus Syndrome

Krause-Kivlin Syndrome

Peters Plus Syndrome

Peters Anomaly

Irido-Corneo-Trabecular Dysgenesis

PTRPLS

Peters Anomaly With Short-Limb Dwarfism

Peters Anomaly-Short Limb Dwarfism Syndrome

Peters Anomaly With Short Limb Dwarfism

Peters Congenital Glaucoma

Krause-Van Schooneveld-Kivlin Syndrome

Peters' Plus Syndrome

Peters'-Plus Syndrome

Anomaly Peters

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Renal Hypodysplasia/Aplasia 1

Renal Agenesis

Renal Adysplasia

Renal Aplasia

RHDA1

Hereditary Renal Aplasia

Hra

Hereditary Urogenital Adysplasia

Hypodysplasia/Aplasia, Renal, Type 1

Congenital Absence Of Kidneys Syndrome

Congenital Absence Of Kidney

Aplastic Kidney

Chromosomal Duplication Syndrome
Testicular Spermatocytic Seminoma

Spermatocytic Seminoma

Adult Teratoma
Split-Hand/Foot Malformation 1

Ectrodactyly

Split Hand-Foot Malformation 1

SHFM1

Shfd1

Split-Hand Deformity

Split-Hand/Foot Malformation 1 With Or Without Deafness

Split-Hand/Foot Deformity 1

Ecd

Split Hand/Foot Malformation Type 1

Split Hand Foot Deformity 1

Split-Hand/Foot Malformation

Hypertelorism, Microtia, Facial Clefting Syndrome

Hmc Syndrome

Bixler Christian Gorlin Syndrome

Bixler-Christian-Gorlin Syndrome

Hypertelorism-Microtia-Facial Clefting Syndrome

Bixler Syndrome

Hypertelorism-Microtia-Clefting Syndrome

Hypertelorism Microtia Facial Clefting Syndrome

Antley-Bixler Syndrome

Trapezoidocephaly Synostosis Syndrome

Trapezoidocephaly-Synostosis Syndrome

Antley Bixler Syndrome

Multisynostotic Osteodysgenesis With Long Bone Fractures

Osteodysgenesis, Multisynostotic With Fractures

Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome Phenotype

Glioblastoma

Glioblastoma Multiforme

Gbm

Adult Glioblastoma Multiforme

Grade Iv Adult Astrocytic Tumor

Primary Glioblastoma Multiforme

Spongioblastoma Multiforme

Adult Glioblastoma

Primary Glioblastoma

Glioma
Adenocarcinoma

Adenocarcinomas

Adenoacanthoma Of Unspecified Site

Adenocarcinoid Of Unspecified Site

Adenocarcinoid Tumour Of Unspecified Site

Adenocarcinoma And Carcinoid Combined Of Unspecified Site

Adenocarcinoma Nos

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Bile Duct Adenocarcinoma
Gastric Adenocarcinoma

Adenocarcinoma Of Stomach

Stomach Adenocarcinoma

Adenocarcinoma Gastric

Intestinal Type Adenocarcinoma Of Unspecified Site

Diffuse Type Adenocarcinoma Of Unspecified Site

Ectodermal Dysplasia

Congenital Ectodermal Defect

Congenital Ectodermal Dysplasia

Ectodermal Dysplasia Syndrome

Dysplasia, Ectodermal

Endometrial Cancer

Endometrial Carcinoma

Endometrial Neoplasm

Malignant Neoplasm Of Endometrium

Endometrioid Carcinoma

Endometrial Neoplasms

Carcinoma, Endometrioid

Endometrial Cancer, Familial

Endometrial Carcinoma, Somatic

Endometrial Cancer, Susceptibility To

Endometrial Ca

Malignant Endometrial Neoplasm

Neoplasm Of Endometrium

Primary Malignant Neoplasm Of Endometrium

Tumor Of Endometrium

Carcinoma Of The Endometrium

Endometrioid Carcinoma Of Female Reproductive System

ENDMC

Carcinoma Endometrioid

Endometrial Cancers

Cancer, Endometrial

Uterine Corpus Cancer

Breast Cancer

Breast Carcinoma

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Male Breast Cancer

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Mucinous Cystadenofibroma
Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Carpenter Syndrome 1

Carpenter Syndrome

Acrocephalopolysyndactyly Type Ii

Acps Ii

CRPT1

Acrocephalopolysyndactyly Type 2

Acrocephalosyndactyly, Type Ii

Acrocephalopolysyndactyly 2

Acps2

Acps 2

Type Ii Acrocephalosyndactyly

Carpenter Syndrome, Type 1

Apert-Crouzon Disease

Cleidocranial Dysplasia

Cleidocranial Dysostosis

CLCD

Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only

Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly

CCD

Marie-Sainton Disease

Dysplasia Cleidocranial

Dento-Osseous Dysplasia

Marie-Sainton Syndrome

Dysplasia, Cleidocranial

Lacrimoauriculodentodigital Syndrome

Ladd Syndrome

Levy-Hollister Syndrome

Lacrimo-Auriculo-Dento-Digital Syndrome

LADD

Lacrimoauriculodento-Digital Syndrome

Levy Hollister Syndrome

Lard Syndrome

Lacrimoauriculoradiodental Syndrome

LADDS

Congenital Duodenal Obstruction Due To Malrotation Of Intestine

Cholangiocarcinoma

Cholangiocarcinoma, Susceptibility To

Extrahepatic Cholangiocarcinoma

Intrahepatic Cholangiocarcinoma

Chlc

Chlc, Susceptibility To

Cc

Cholangiocarcinoma Of Biliary Tract

Cholangiocellular Carcinoma

Distal Cholangiocarcinoma

Perihilar Cholangiocarcinoma

Bile Duct Cancer

Cca

Adult Primary Cholangiocellular Carcinoma

Bile Duct Carcinoma

Acanthosis Nigricans

Keratosis Nigricans

An

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Hepatocellular Clear Cell Carcinoma

Clear Cell Carcinoma Of The Liver Cells

Hepatocellular Carcinoma, Clear Cell Type

Clear Cell Hepatocellular Carcinoma

Cleft Lip

Cheiloschisis

Labium Leporinum

Cleft Lip, Unilateral, Complete

Complete Unilateral Cleft Lip

Hare Lip

Congenital Fissure Of Lip

Isolated Cleft Lip

Cleft Lip Without Cleft Palate

Cleft Lip Without Cleft Palate, Unilateral

Isolated Cleft Lip, Unilateral

Cleft Lip Without Cleft Palate, Bilateral

Isolated Cleft Lip, Bilateral

Orofacial Cleft

Cleft, Orofacial

Gastric Cancer

Stomach Cancer

Stomach Carcinoma

Gastric Carcinoma

Gastric Cancer, Somatic

Gastric Neoplasm

Carcinoma Of Stomach

Stomach Neoplasms

Malignant Neoplasm Of Stomach

Gastric Cancer Risk After H. Pylori Infection

Cancer Of The Stomach

Adult Stomach Cancer

Adult Stomach Carcinoma

GASC

Gastric Cancer Intestinal

Gastric Cancers

Gastric Carcinomas

Cancer, Gastric

Stomach Neoplasm

Malignant Neoplasm Of Body Of Stomach

Malignant Tumor Of Lesser Curve Of Stomach

Gastrocarcinoma Of Unspecified Site

Leather Bottle Stomach

Carcinoma Of Fundus Of Stomach

Cancer Of Fundus Of Stomach

Primary Malignant Neoplasm Of Body Of Stomach

Cancer Of Body Of Stomach

Primary Malignant Neoplasm Of Pyloric Antrum

Pyloric Antrum Cancer

Malignant Tumour Of Stomach

Bent Bone Dysplasia Syndrome

Fgfr2-Related Bent Bone Dysplasia

BBDS

Bent Bone Dysplasia -Fgfr2 Type

Perinatal Lethal Bent Bone Dysplasia

Dysplasia, Bent Bone Syndrome

Syndromic Craniosynostosis
Scaphocephaly, Maxillary Retrusion, And Mental Retardation

Familial Scaphocephaly Syndrome, Mcgillivray Type

Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome

Familial Scaphocephaly Syndrome

FSPC

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Dysostosis

Dysostoses

Vesicoureteral Reflux

Vesico-Ureteral Reflux

Synostosis
Porokeratosis

Disseminated Superficial Actinic Porokeratosis

Dsap

Porokeratosis Of Mibelli

Porokeratosis, Disseminated Superficial Actinic

Porokeratosis, Disseminated Superficial Actinic, 1

Saethre-Chotzen Syndrome

SCS

Acs3

Acs Iii

Chotzen Syndrome

Acrocephaly, Skull Asymmetry, And Mild Syndactyly

Acrocephalosyndactyly Type 3

Acrocephalosyndactyly, Type Iii

Acrocephalosyndactyly Type Iii

Saethre-Chotzen Syndrome With Or Without Eyelid Anomalies

Auralcephalosyndactyly

Acs 3

Acrocephalo-Syndactyly, Type 3

Blepharophimosis,Epicanthus Inversus, And Ptosis 3

Aural Cephalosyndactyly

Kurczynski-Casperson Syndrome

Acrocephalosyndactyly Iii

Dysostosis Craniofacialis With Hypertelorism

Saethre-Chotzen Syndrome, With/Without Eyelid Anomalies

Sakati Syndrome

Holoprosencephaly

Holoprosencephaly Sequence

Hpe

Hpe - [Holoprosencephaly]

Squamous Cell Carcinoma

Epidermoid Carcinoma

Squamous Cell Cancer

Carcinoma, Squamous Cell

Malignant Squamous Cell Tumor

Squamous Carcinoma

Squamous Cell Epithelioma

Squamous Cell Skin Cancer

Carcinoma Squamous Cell

Neoplasms, Squamous Cell

Squamous Cell Carcinoma - Category

Malignant Squamous Cell Neoplasm

Squamous Cell Carcinoma Of Skin

Craniosynostosis

Premature Closure Of Cranial Sutures

Craniostenosis

Craniosynostosis Syndrome

Cso

Craniosynostoses

Congenital Ossification Of Cranial Sutures

Congenital Ossification Of Sutures Of Skull

Craniostosis

Imperfect Fusion Of Skull

Congenital Imperfect Closure Skull

Imperfect Closure Skull

Premature Closure Cranium Sutures

Deficiency Of Craniofacial Axis

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Calcinosis

Pathologic Calcification

Pathologically Calcified Structure

Klatskin'S Tumor

Klatskin Tumor

Hilar Cholangiocarcinoma

Perihilar Cholangiocarcinoma

Hilar Cholangiocellular Carcinoma

Klatskin Tumour

Klatskin'S Tumour

Perihilar Extrahepatic Bile Duct Carcinoma

Hilar Cca

Adenocarcinoma Of Hepatic Duct

Klatskin Tumour Of Biliary Tree

Crouzon Syndrome

Crouzon Craniofacial Dysostosis

Craniofacial Dysostosis

Cfd1

Craniofacial Dysostosis Type 1

Crouzon Disease

Crouzon'S Disease

Craniofacial Dysostosis, Type I

Craniofacial Dysarthrosis

Craniofacial Dysostosis Syndrome

CS

Craniofacial Dysostosis Type I

Vogt Cephalosyndactyly

Dacryocystocele

Lacrimal Mucocele

Achondroplasia

Achondroplastic Dwarfism

ACH

Osteosclerosis Congenita

Achondroplastic Physique

Chondrodystrophia

Dwarf, Achondroplastic

Achondroplastic Short Stature

Congenital Osteosclerosis

Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans

SADDAN

Saddan Dysplasia

Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome

Severe Achondroplasia With Developmental Delay And Acanthosis Nigricans

Ssb Syndrome

Skeleton Skin Brain Syndrome

Skeleton-Skin-Brain Syndrome

Achondroplasia

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Uterine Corpus Endometrial Carcinoma
Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive

Hydrocephalus, X-Linked

Hydrocephalus Adverse Event

Hydrocephaly Nos

Lung Cancer Susceptibility 3

Lung Adenocarcinoma

Adenocarcinoma Of Lung

LNCR3

Adenocarcinoma Of Lung, Susceptibility To

Bronchogenic Lung Adenocarcinoma

Nonsmall Cell Adenocarcinoma

Adenocarcinoma Lung

Lung Adenocarcinomas

Non-Small Cell Adenocarcinoma

Teratocarcinoma

Mixed Embryonal Carcinoma And Teratoma

Renal Cell Carcinoma, Nonpapillary

Renal Cell Carcinoma

RCC

Nonpapillary Renal Cell Carcinoma

Clear Cell Renal Cell Carcinoma

Hypernephroma

Adenocarcinoma Of Kidney

Renal Carcinoma, Chromophobe, Somatic

Clear Cell Carcinoma Of Kidney

Clear-Cell Metastatic Renal Cell Carcinoma

Clear Cell Renal Carcinoma

Renal Cell Carcinoma, Somatic

Conventional Renal Cell Carcinoma

Conventional Renal Cell Carcinoma

Renal Clear Cell Carcinoma

Ccrcc

Hereditary Clear Cell Renal Cell Carcinoma

Carcinoma, Renal Cell

Renal Cell Carcinoma, Clear Cell, Somatic

Renal Cell Carcinoma, Clear Cell

Clear Cell Kidney Carcinoma

Clear Cell Rcc

Cystic-Multilocular Variant

Clear Cell Renal Cell Adenocarcinoma

Hereditary Clear Cell Renal Cell Adenocarcinoma

Common Renal Cell Carcinoma

Crcc

Renal Cell Carcinoma Non-Papillary

Carcinoma Renal Cell

Renal Cell Cancer

Carcinoma, Renal Cell, Nonpapillary

Crouzon Syndrome With Acanthosis Nigricans

Crouzon Syndrome-Acanthosis Nigricans Syndrome

CAN

Crouzonodermoskeletal Syndrome

Crouzon-Dermoskeletal Syndrome

Crouzon, With Acanthosis Nigricans Syndrome

Plagiocephaly

Asymmetric Head

Lateral Curvatures Of Skull Unequal

Unicoronal Synostosis

Osteoglophonic Dysplasia

Osteoglophonic Dwarfism

OGD

Fairbank-Keats Syndrome

Osteoglosphonic Dysplasia

Dysplasia, Osteoglophonic

Antley-Bixler Syndrome Without Genital Anomaly Or Disorder Of Steroidogenesis
Hypophosphatemia

Vitamin D-Resistant Rickets

Hereditary Hypophosphatemic Rickets

Vdrr

Vitamin D Resistant Rickets

Hypophosphatemic Rickets, X-Linked Dominant

Familial Hypophosphatemic Rickets

Aplasia Of Lacrimal And Salivary Glands

ALSG

Congenital Absence Of Lacrimal Puncta And Salivary Glands

Xerostomia

Absence Of Salivary Glands

Parotid Aplasia Or Hypoplasia

Congenital Absence Of Lacrimal Puncta Or Salivary Glands

Alsg - [Aplasia Of Lacrimal Or Salivary Glands]

Meningioma, Familial

Meningioma

Familial Meningioma

Meningioma, Familial, Susceptibility To

Meningeal Neoplasm

Meningeal Neoplasms

Meningiomas

Meningioma, Nf2-Related, Somatic

Meningioma, Sis-Related

Meningothelial Cell Tumor

Neoplasm Of The Meninges

Primary Meningeal Tumor

Familial Multiple Meningioma

MNGMA

Meningioma, Benign, No Icd-O Subtype

Intracranial Meningioma

Meningothelial Cell Neoplasm

Supratentorial Meningioma

Primary Neoplasm Of Spinal Meninges

Benign Intracranial Meningioma

Benign Meningioma

Meningeal Tumours

Meningeal Sarcoma Of Unspecified Site

Meningothelial Sarcoma Of Unspecified Site

Gallbladder Cancer

Gallbladder Carcinoma

Gallbladder Neoplasm

Malignant Neoplasm Of Gallbladder

Malignant Tumour Of Gallbladder

Gallbladder Ca

Localized Malignant Gallbladder Neoplasm

Malignant Tumor Of The Gallbladder

Tumor Of The Gallbladder

Cancer Of The Gallbladder

Carcinoma Gallbladder

Carcinoma Of Gallbladder

Gallbladder Neoplasms

Malignant Neoplasm Of Gallbladder Localized

Cancer Of Gallbladder

Primary Malignant Neoplasm Of Gallbladder

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Lung Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Lung

Squamous Cell Lung Carcinoma

Epidermoid Cell Carcinoma Of The Lung

Squamous Cell Lung Cancer

Luteoma

Leuteoma Of Pregnancy

Luteoma Of Pregnancy

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome

Humeroradial Synostosis

Humero-Radial Fusion

Humero-Radial Synostosis

Ramer Ladda Syndrome

Craniofrontonasal Syndrome

Craniofrontonasal Dysplasia

CFNS

Cfnd

Craniofrontonasal Dysostosis

Craniofrontonasal Dystosis

Dysplasia, Craniofrontonasal

Lung Cancer

Lung Carcinoma

Non-Small Cell Lung Carcinoma

Lung Cancer, Protection Against

Lung Cancer, Susceptibility To

Adenocarcinoma Of Lung, Somatic

Nonsmall Cell Lung Cancer

Adenocarcinoma Of Lung, Response To Tyrosine Kinase Inhibitor In

Lung Neoplasm

Carcinoma Of Lung

Lung Non-Small Cell Carcinoma

Non-Small Cell Lung Cancer

Nsclc

Lung Neoplasms

Malignant Neoplasm Of Lung

Alveolar Cell Carcinoma

Nonsmall Cell Lung Cancer, Somatic

Nonsmall Cell Lung Cancer, Response To Tyrosine Kinase Inhibitor In

Nonsmall Cell Lung Cancer, Susceptibility To

Lung Cancer, Somatic

Lung Cancer, Resistance To

Cancer Of Lung

Cancer Of Bronchus

Cancer Of The Lung

Lung Malignancies

Lung Malignant Tumors

Malignant Lung Tumor

Malignant Tumor Of Lung

Pulmonary Cancer

Pulmonary Carcinoma

Pulmonary Neoplasms

Respiratory Carcinoma

LNCR

Adenocarcinoma Of Lung

Neoplasm Of Lung

Cancer Lung

Carcinoma Non-Small Cell Lung

Carcinoma, Non-Small-Cell Lung

Lung Cancers

Lung Carcinomas

Cancer, Lung

Cancer, Lung, Non-Small Cell

Primary Malignant Neoplasm Of Lung

Bronchioloalveolar Adenocarcinoma

Osteochondrodysplasia

Chondrodystrophy

Skeletal Dysplasia

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Dysgerminoma
Muenke Syndrome

Muenke Nonsyndromic Coronal Craniosynostosis

Fgfr3-Related Craniosynostosis

Fgfr3-Associated Coronal Synostosis

Coronal Craniosynostosis

MNKES

Syndrome Of Coronal Craniosynostosis

MNKS

Fgfr3-Related Isolated Coronal Synostosis

Muenke Non-Syndromic Coronal Craniosynostosis

Cholesteatoma Of Middle Ear

Cholesteatoma

Epidermosis Of Ear

Epidermosis Of Middle Ear

Middle Ear Cholesteatoma

Cholesteatoma Of Middle Ear And Mastoid

Cholesteatoma Of Middle Ear And/Or Mastoid

Cholesteatoma Of The Middle Ear

Congenital Cholesteatoma

Primary Acquired Cholesteatoma

Secondary Acquired Cholesteatoma

Cholesteatoma Middle Ear

Cholesteatoma, Middle Ear

Cholesterolosis Of Middle Ear

Cholesterosis Of Ear

Cholesterosis Of Middle Ear

Cholesteatoma Nos

Epidermoid Cholesteatoma

Middle Ear Granuloma

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus FGFR2 MGD MGI:95523
Macaca mulatta FGFR2 VGNC VGNC:72652
Bos taurus FGFR2 VGNC VGNC:28987
Rattus norvegicus FGFR2 RGD RGD:2611
Canis familiaris FGFR2 VGNC VGNC:40859
Felis catus FGFR2 VGNC VGNC:82478
Others FGFR2 NCBI