SOX2 - SRY-box transcription factor 2 Gene

Also Known as ANOP3; MCOPS3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6657

About SOX2

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:181,711,925-181,714,436 (from NCBI)

This gene has 1 transcript (splice variant), 150 orthologues, 20 paralogues and is associated with 61 phenotypes.

Summary

This intronless gene encodes a member of the SRY-related HMG-box (SOX) family of transcription factors involved in the regulation of embryonic development and in the determination of cell fate. The product of this gene is required for stem-cell maintenance in the central nervous system, and also regulates gene expression in the stomach. Mutations in this gene have been associated with optic nerve hypoplasia and with syndromic microphthalmia, a severe form of structural eye malformation. This gene lies within an intron of another gene called SOX2 overlapping transcript (SOX2OT). [provided by RefSeq, Jul 2008]

SOX2 Products (1)

mRNA Protein Name
NM_003106.4 NP_003097.1 transcription factor SOX-2
Molecular Function GO Annotation Evidence References Source
enables DNA binding IDA
IDA: Inferred from direct assay
16153702 GOA
enables DNA-binding transcription factor activity IDA
IDA: Inferred from direct assay
16153702 GOA
enables miRNA binding IDA
IDA: Inferred from direct assay
18710938 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
18456656 GOA
enables sequence-specific DNA binding IDA
IDA: Inferred from direct assay
20713518 GOA
enables transcription cis-regulatory region binding IDA
IDA: Inferred from direct assay
18407919 GOA
Biological Process GO Annotation Evidence References Source
acts upstream of or within endodermal cell fate specification IDA
IDA: Inferred from direct assay
21245162 GOA
involved in eye development IEP
IEP: Inferred from expression pattern
18285410 GOA
involved in forebrain development IEP
IEP: Inferred from expression pattern
18285410 GOA
involved in inner ear development IEP
IEP: Inferred from expression pattern
18407919 GOA
involved in negative regulation of canonical Wnt signaling pathway IDA
IDA: Inferred from direct assay
18285410 GOA
involved in negative regulation of cell cycle G1/S phase transition IDA
IDA: Inferred from direct assay
18268498 GOA
involved in negative regulation of epithelial cell proliferation IDA
IDA: Inferred from direct assay
18268498 GOA
involved in osteoblast differentiation IDA
IDA: Inferred from direct assay
18187129 GOA
involved in pituitary gland development IEP
IEP: Inferred from expression pattern
18285410 GOA
involved in positive regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
18407919 GOA
involved in positive regulation of MAPK cascade IDA
IDA: Inferred from direct assay
18187129 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
21245162 GOA
involved in positive regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
18027866 GOA
involved in regulation of DNA-templated transcription IDA
IDA: Inferred from direct assay
16153702 GOA
involved in regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
IDA: Inferred from direct assay
18268498 GOA
involved in regulation of gene expression IMP
IMP: Inferred from mutant phenotype
18388306 GOA
involved in response to growth factor IDA
IDA: Inferred from direct assay
18187129 GOA
involved in response to wounding IEP
IEP: Inferred from expression pattern
17982423 GOA
involved in somatic stem cell population maintenance IDA
IDA: Inferred from direct assay
19409607 GOA
involved in somatic stem cell population maintenance IMP
IMP: Inferred from mutant phenotype
18388306 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
18027866 GOA
located in cytosol IDA
IDA: Inferred from direct assay
18000303 GOA
located in nucleus IDA
IDA: Inferred from direct assay
17291498 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SOX2 Protein Structure

HMG_box

HMG_box: HMG (high mobility group) box (41 - 109)

SOXp

SOXp: SOX transcription factor (110 - 200)

  • 0
  • 100
  • 200
  • 300
  • 317 a.a.
Protein Preferred Names Protein Names

transcription factor SOX-2

  • SRY (sex determining region Y)-box 2

SOX2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SOX2 P48431 VRK1 Homo sapiens Q99986 27334688
Intra
SOX2 P48431 VRK1 Homo sapiens Q99986 27334688
Intra
SOX2 P48431 VRK1 Homo sapiens Q99986 27334688
Intra
SOX2 P48431 PRKCI Homo sapiens P41743 24525231
Intra
SOX2 P48431 USP7 Homo sapiens Q93009 23667531
Intra
SOX2 P48431 USP7 Homo sapiens Q93009 23667531
Intra
SOX2 P48431 POU5F1 Homo sapiens Q01860 25702638
Intra
SOX2 P48431 SUMO1 Homo sapiens P63165 25416956
Intra
SOX2 P48431 SUMO1 Homo sapiens P63165 25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

SOX2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80334 SOX2 Antibody (YA066) IHC-P Human
HY-P84348 SOX2 Antibody (YA4045) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P84348A SOX2 Antibody (YA4045)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, Rabbit, Monkey
HY-P85375 SOX2 Antibody (YA5067) WB, IHC-P, IHC-F, ICC/IF, IF-Tissue Human, Mouse, Rat

Related Diseases

Diseases Alias
Microphthalmia, Syndromic 3
  • MCOPS3

  • Aeg Syndrome

  • Microphthalmia And Esophageal Atresia Syndrome

  • Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome

  • Anophthalmia-Esophageal-Genital Syndrome

  • Optic Nerve Hypoplasia And Abnormalities Of The Central Nervous System

  • Syndromic Microphthalmia 3

  • Sox2 Anophthalmia Syndrome

  • Anophthalmia Clinical With Associated Anomalies

  • Anophthalmia Esophageal Genital Syndrome

  • Anophthalmia Microphthalmia Esophageal Atresia

  • Syndromic Microphthalmia Type 3

  • Sox2-Related Eye Disorders

  • Anophthalmia, Clinical, With Associated Anomalies

  • Syndromic Microphthalmia, Type 3

  • Microphthalmia, Syndromic, 3

  • Anophthalmia/Microphthalmia-Esophageal Atresia

  • Microphthalmia Syndromic, Type 3

Septooptic Dysplasia
  • Septo-Optic Dysplasia

  • De Morsier Syndrome

  • Growth Hormone Deficiency With Pituitary Anomalies

  • SOD

  • Pituitary Hormone Deficiency, Combined, 5

  • Septo-Optic Dysplasia Spectrum

  • Septo-Optic Dysplasia With Growth Hormone Deficiency

  • Pituitary Hormone Deficiency, Combined 5

  • Hypopituitarism And Septooptic 'Dysplasia'

  • GHDPA

  • CPHD5

  • Dysplasia, Septo-Optic

  • Kallmann Syndrome

Nanophthalmos
  • Nanophthalmia

Colobomatous Microphthalmia
  • Anophthalmia-Microphthalmia Syndrome

  • Mac

  • Microphthalmia With Colobomatous Cyst

  • Microphthalmia-Anophthalmia-Coloboma Syndrome

  • Microphthalmia-Anophthalmia-Coloboma

  • Microphthalmia And Mental Deficiency

Microphthalmia
  • Microphthalmos

  • Isolated Anophthalmia-Microphthalmia Syndrome

  • Isolated Microphthalmia-Anophthalmia-Coloboma

  • Simple Microphthalmos

  • Clinical Anophthalmia

  • Isolated Anophthalmia - Microphthalmia

  • Isolated Pure Microphthalmia

  • Mac Spectrum

  • Microphthalmia-Anophthalmia-Coloboma Spectrum

  • Primitive Anophthalmia

  • Globe Of Eye Small

  • Small Eyeball

  • Hypoplasia Of Eye

  • Isolated Nanophthalmos

  • Rudimentary Eye

  • Dysplasia Of Eye

Embryonal Carcinoma
  • Embryonal Neoplasm

  • Embryonal Cancer

  • Primary Extragonadal Embryonal Carcinoma

  • Embryo Neoplasm

  • Carcinoma Embryonal

  • Cancer Embryonal

  • Carcinoma, Embryonal

  • Extragonadal Embryonal Carcinoma

  • Cancer, Embryonal

Syndromic Microphthalmia
  • Microphthalmia, Syndromic

Fryns Microphthalmia Syndrome
  • Anophthalmia

  • Microphthalmia With Facial Clefting

  • Anophthalmia Plus Syndrome

  • Leichtman Wood Rohn Syndrome

  • Anophthalmia-Plus Syndrome

  • Anophthalmia, Cleft Lip/Palate, Facial Anomalies, And Cns Anomalies And Hypothalamic Disorder

  • Fryns Anophthalmia Syndrome

Esophageal Atresia
  • Tracheoesophageal Fistula

  • Congenital Atresia Of Esophagus

  • Congenital Imperforate Esophagus

  • Imperforate Esophagus

  • Oesophageal Atresia

  • Te Fistula

  • Tef

  • Tracheoesophageal Fistula With Or Without Esophageal Atresia

Germ Cell And Embryonal Cancer
  • Germ Cell And Embryonal Neoplasm

Teratoma
  • Teratomas

Lambert-Eaton Myasthenic Syndrome
  • Lambert-Eaton Syndrome

  • Eaton-Lambert Syndrome

  • Lems

  • Lambert Eaton Myasthenic Syndrome

  • Eaton Lambert Syndrome

  • Lambert Eaton Syndrome

  • Myasthenic Syndrome Of Lambert-Eaton

  • Myasthenic-Myopathic Syndrome Of Lambert-Eaton

  • Lems - [Lambert-Eaton Myasthenic Syndrome]

Tyrosinemia
  • Hypertyrosinemia

  • Tyrosinemias

  • Hereditary Tyrosinemia

  • Hypertyrosinaemia

  • Tyrosinaemia

  • Hereditary Hypertyrosinemia

Ocular Cancer
  • Eye Neoplasm

  • Eye Carcinoma

  • Eye Cancer

  • Eye Neoplasms

  • Malignant Eye Neoplasm

  • Neoplasm Of Eye

  • Neoplasm Of Eye Proper

  • Ocular Tumor

  • Carcinoma Of Eye

  • Ocular Carcinoma

  • Malignant Tumor Of Eye

Craniopharyngioma
  • Neoplasm Of Rathke'S Pouch

  • Adamantinomatous Tumor

  • Craniopharyngeal Duct Tumor

  • Dysodontogenic Epithelial Tumor

  • Rathke'S Pouch Tumor

Ablepharon-Macrostomia Syndrome
  • Ablepharon Macrostomia Syndrome

  • AMS

  • Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies

  • Eye Abnormalities

Central Nervous System Immature Teratoma
  • Immature Teratoma Of The Cns

Seminoma
  • Seminoma, Pure

Epilepsy, Idiopathic Generalized 15
  • EIG15

  • Epilepsy, Idiopathic Generalized, Susceptibility To, 15

  • Idiopathic Generalized Epilepsy 15

  • {Epilepsy, Idiopathic Generalized, Susceptibility To, 15}

Hypopituitarism
  • Pituitary Hypofunction

  • Pituitary Insufficiency

  • Pituitary Hormone Deficiency

  • Subpituitarism

  • Hypophyseal Dystrophy

  • Hypohypophysism

  • Anterior Pituitary Insufficiency

  • Deficient Secretion Of One Or More Pituitary Hormones

  • Hypopituitarism Syndrome

  • Pituitary Deficiency

  • Pituitary Failure

  • Pituitary Insufficiency Nos

  • Anterior Pituitary Hypofunction

  • Deficient Secretion Of All Pituitary Hormones

  • Hypopituitary Dwarfism

  • Hyposomatotropic Dwarfism

  • Hypophyseal Dwarfism

  • Hypopituitary Cachexia

  • Hypophyseal Short Stature

  • Panhypopituitarism Syndrome

  • Pituitary Cachexia

  • Juvenile Hypopituitarism

  • Pituitary Dwarfism

  • Pituitary Gland Hypofunction

  • Primary Hypopituitarism

  • Secondary Hypogonadism

  • Prepubertal Panhypopituitarism

  • Prepubertal Dwarfism

  • Postpartum Panhypopituitary Syndrome

  • Postpartum Hypopituitarism

  • Pituitary Short Stature

  • Pituitary Infantilism

  • Pituitary Hypogonadism

  • Pituitary Hypoadrenocorticism

Germ Cell Cancer
  • Malignant Germ Cell Tumor

  • Neoplasms, Germ Cell And Embryonal

  • Germ Cell Neoplasm

  • Germ Cell Tumour

  • Malignant Tumor Of The Germ Cell

  • Neoplasms Germ Cell

  • Malignant Germ Cell Neoplasm

Sensorineural Hearing Loss
  • Sensory Hearing Loss

  • Sensorineural Deafness

  • Sensorineural Hearing Loss Disorder

  • Hearing Loss, Sensorineural

  • Central Hearing Loss

  • High Frequency Deafness

  • High Frequency Hearing Loss

  • High-Frequency Hearing Loss

  • Perceptive Deafness

  • Perceptive Hearing Loss

  • Perceptive Hearing Loss Or Deafness

  • Hearing Loss Sensorineural

  • Deafness Sensorineural

  • Hearing Loss High-Frequency

  • Hearing Loss, Central

  • Hearing Loss, High-Frequency

Mixed Germ Cell Cancer
  • Mixed Germ Cell Tumor

  • Mixed Germ Cell Neoplasm

  • Mixed Germ Cell Tumour

  • Mixed Teratoma And Seminoma

Malignant Teratoma
  • Immature Teratoma

  • Malignant Extragonadal Teratoma

  • Primary Malignant Extragonadal Teratoma

  • Teratoma, Malignant, Nos

  • Teratoma, Malignant

  • Immature Extragonadal Teratoma

Ovarian Embryonal Carcinoma
  • Embryonal Carcinoma Of Ovary

  • Embryonal Carcinoma Of The Ovary

Glycogen Storage Disease
  • Glycogenosis

  • Glycogenoses

  • Gsd

  • Storage Disease, Glycogen

  • Gsd - [Glycogen Storage Disease]

  • Glycogen Thesaurismosis

  • Diffuse Glycogenosis

  • Generalised Glycogen Storage Disease

  • Generalised Glycogenosis

  • Generalised Glycogen Storage Disease Of Infants

  • Glycogen Synthase Deficiency

Smarca4-Deficient Sarcoma Of Thorax
  • Smarca4-Dts

  • Smarca4-Deficient Thoracic Sarcoma

Hepatocellular Carcinoma
  • Liver Cancer

  • Primary Liver Cancer

  • HCC

  • Hepatoma

  • Malignant Neoplasm Of Liver

  • Liver Neoplasms

  • Cancer, Hepatocellular

  • Liver Cell Carcinoma

  • Lcc

  • Hepatoblastoma, Somatic

  • Hepatic Cancer

  • Primary Malignant Neoplasm Of Liver

  • Rare Tumor Of Liver And Intrahepatic Biliary Tract

  • Hepatocellular Carcinoma, Somatic

  • Hepatocellular Carcinoma, Childhood Type, Somatic

  • Hepatocellular Cancer, Somatic

  • Ca Liver - Primary

  • Hepatic Neoplasm

  • Malignant Hepato-Biliary Neoplasm

  • Malignant Neoplasm Of Liver, Not Specified As Primary Or Secondary

  • Malignant Neoplasm Of Liver, Primary

  • Malignant Tumor Of Liver

  • Neoplasm Of Liver

  • Non-Resectable Primary Hepatic Malignant Neoplasm

  • Resectable Malignant Neoplasm Of Liver

  • Resectable Malignant Neoplasm Of The Liver

  • Primary Liver Carcinoma

  • Primary Malignant Liver Neoplasm

  • Primary Cancer Of Liver

  • Primary Tumor Of The Liver

  • Rare Tumor Of Liver And Ibt

  • Hepatocellular Cancer

  • Neoplasm Of The Liver

  • Carcinoma, Hepatocellular

  • Hepatomas

  • Liver Neoplasm

  • Liver Carcinoma

  • Liver And Intrahepatic Biliary Tract Carcinoma

  • Malignant Hepatobiliary Neoplasm

  • Adult Primary Hepatocellular Carcinoma

  • Hepatoblastoma

  • Carcinoma Of Liver

  • Malignant Liver Tumour

  • Malignant Hepatic Tumour

Microphthalmia, Isolated 3
  • Isolated Microphthalmia 3

  • MCOP3

  • Microphthalmia, Isolated, 3

  • Isolated Clinical Anophthalmia

  • Microphthalmia, Isolated, Type 3

Adamantinous Craniopharyngioma
  • Adamantinous Rathke'S Pouch Tumor

  • Craniopharyngioma, Adamantinomatous

  • Adamantinomatous Craniopharyngioma

Medulloblastoma
  • MDB

  • Cpnet

  • Localized Primitive Neuroectodermal Tumor

  • Classic Medulloblastoma

  • Medulloblastoma Predisposition Syndrome

  • Medulloblastoma, Somatic

  • Brain Medulloblastoma

  • Cns Pnet

  • Infratentorial Primitive Neuroectodermal Tumor

  • Neuroectodermal Tumors, Primitive

  • Medulloblastomas

  • Desmoplastic Medulloblastoma

  • Medulloblastoma, With Extensive Nodularity

  • Medulloblastoma Of Unspecified Site

  • Medullomyoblastoma Of Unspecified Site

Microphthalmia, Syndromic 8
  • MCOPS8

  • Mmep Syndrome

  • Mmep

  • Syndromic Microphthalmia Type 8

  • Viljoen-Smart Syndrome

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs, And Prognathism

  • Syndromic Microphthalmia 8

  • Microcephaly-Microphthalmia-Ectrodactyly Of Lower Limbs-Prognathism Syndrome

  • Microphthalmia Syndromic 8

  • Microcephaly Microphthalmia Ectrodactyly Of Lower Limbs And Prognathism

  • Viljoen Smart Syndrome

  • Microphthalmia, Syndromic, 8

  • Microcephaly, Microphthalmia, Ectrodactyly Of Lower Limbs And Prognathism

Mature Teratoma
  • Dermoid Cyst

  • Benign Teratoma

Gastric Cancer
  • Stomach Cancer

  • Gastric Carcinoma

  • Stomach 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

Infratentorial Cancer
  • Infratentorial Neoplasms

  • Brain Neoplasm, Infratentorial

  • Malignant Infratentorial Tumors

Feingold Syndrome 1
  • Feingold Syndrome

  • Oculodigitoesophagoduodenal Syndrome

  • Oded Syndrome

  • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome

  • Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum

  • FGLDS1

  • Mmt Syndrome

  • Brunner-Winter Syndrome

  • Feingold Syndrome Type 1

  • Oded

  • Moded

  • Fglds

  • Microcephaly-Digital Anomalies-Normal Intelligence Syndrome

  • Moded Syndrome

  • Oculo-Digito-Esophageal-Duodenal Syndrome

  • Microcephaly, Mental Retardation, And Tracheoesophageal Fistula Syndrome

  • Microcephaly And Digital Abnormalities With Normal Intelligence

  • Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus, Or Duodenum

  • Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula Syndrome

  • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome

  • Oculo-Digito-Esophagoduodental Syndrome

  • Fs

  • Mmt

  • Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome

  • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome

  • Brunner-Winter Syndrome Type 1

  • Digital Anomalies With Short Palpebral Fissures And Atresia Of Esophagus Or Duodenum Type 1

  • Fs1

  • Mmt Type 1

  • Moded Syndrome Type 1

  • Microcephaly-Digital Anomalies-Normal Intelligence Syndrome Type 1

  • Microcephaly-Intellectual Disability-Tracheoesophageal Fistula Syndrome Type 1

  • Microcephaly-Oculo-Digito-Esophageal-Duodenal Syndrome Syndrome Type 1

  • Oded Syndrome Type 1

  • Oculo-Digito-Esophageal-Duodenal Syndrome Type 1

  • Feingold Syndrome, Type 1

Myopia
  • Near-Sightedness

  • Short-Sightedness

  • Nearsightedness

  • Nearsighted

  • Near Vision

  • Close Sighted

  • Myopic

  • Short-Sighted

  • Near Sighted

Cataract
  • Cataracts

  • Cat - [Cataract]

  • Cataract Form

  • Lens Opacity

  • Lens Opacities

Neuroblastoma
  • Nb

  • Neuroblastoma, Susceptibility To

  • Neuroblastomas

  • Central Neuroblastoma

Coloboma Of Macula
  • Coloboma

  • Congenital Ocular Coloboma

  • Microphthalmia, Isolated, With Coloboma

  • Agenesis Of Macula

  • Hereditary Macular Coloboma

  • Ocular Coloboma

  • Coloboma Of Eye

  • Macular Coloboma

  • Uveoretinal Coloboma

Macular Degeneration, Age-Related, 1
  • Macular Degeneration

  • Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related

  • Age Related Macular Degeneration

  • Age Related Macular Degeneration 1

  • ARMD1

  • Senile Macular Degeneration

  • Maculopathy, Age-Related, 1

  • Macular Degeneration, Age-Related, Reduced Risk Of

  • Age Related Maculopathy 1

  • Age Related Maculopathies

  • Age Related Maculopathy

  • Senile Macular Retinal Degeneration

  • Macular Degeneration Of Retina

  • Age-Related Maculopathy

  • Amd

  • Armd

  • Age-Related Maculopathy, Susceptibility To

  • Maculopathy Age-Related

  • Macular Degeneration, Age-Related, 1, Susceptibility To

  • Maculopathy, Age-Related

  • Macular Degeneration, Age-Related, Type 1

  • Macular Degeneration, Age-Related, 2

Aniridia 1
  • Aniridia

  • Congenital Aniridia

  • AN1

  • An

  • Cataract With Late-Onset Corneal Dystrophy

  • Aplasia Of Iris

  • Absent Iris

  • Irideremia

  • Aniridia Ii, Formerly

  • An2, Formerly

  • An2

  • Aniridia Type Ii

  • Aniridia, Type 1

  • An-1

  • Absence Of Iris

  • Agenesis Of Iris

  • Congenital Absence Of Iris

  • Hereditary Aniridia

  • Sporadic Aniridia

Microphthalmia, Isolated 2
  • Isolated Microphthalmia 2

  • MCOP2

  • Anophthalmia, Clinical, Isolated

  • Microphthalmia, Isolated, 2

  • Isolated Clinical Anophthalmia

  • Microphthalmia, Isolated, Type 2

Macular Degeneration, Age-Related, 7
  • Age Related Macular Degeneration 7

  • ARMD7

  • Macular Degeneration, Age-Related, Neovascular Type

  • Susceptibility To Neovascular Type Of Age-Related Macular Degeneration

  • Macular Degeneration, Age-Related, Type 7

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

Charge Syndrome
  • Charge Association

  • Hall-Hittner Syndrome

  • Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital And Ear Anomalies

  • Hhs

  • Coloboma, Heart Anomaly, Choanal Atresia, Restriction Of Growth And Development, Genital And Ear Anomalies

  • Coloboma-Heart Defects-Atresia Choanae-Retardation Of Growth And Development-Genitourinary Problems-Ear Abnormalities Syndrome

  • CHARGES

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

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

Spinal Cord Lipoma
  • Lipoma Of Spinal Cord

Mowat-Wilson Syndrome
  • MOWS

  • Microcephaly, Mental Retardation, And Distinct Facial Features, With Or Without Hirschsprung Disease

  • Hirschsprung Disease-Mental Retardation Syndrome

  • Mowat-Wilson Syndrome Due To Monosomy 2q22

  • Hirschsprung Disease Mental Retardation Syndrome

  • Microcephaly, Mental Retardation, And Distinct Facial Featrues, With Or Without Hirschprung Disease

  • Hirschsprung Disease - Intellectual Disability Syndrome

  • Hirschsprung Disease Intellectual Disability Syndrome

  • Intellectual Disability, Microcephaly, And Distinct Facial Features With Or Without Hirschsprung Disease

  • Mws

  • Hirschsprung Disease-Intellectual Disability Syndrome

  • Hirschsprung Disease And Intellectual Disability Due To 2q22 Microdeletion

  • Hirschsprung Disease And Intellectual Disability Due To Del(2)(Q22)

  • Hirschsprung Disease And Intellectual Disability Due To Monosomy 2q22

  • Mowat-Wilson Syndrome Due To 2q22 Microdeletion

  • Mowat-Wilson Syndrome Due To Del(2)Q(22)

  • Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation

  • Hirschsprung Disease And Intellectual Disability Due To A Zeb2 Point Mutation

Glioblastoma Classical Subtype
Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • 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

Sickle Cell Anemia
  • Hemoglobin Sc Disease

  • Anemia, Sickle Cell

  • Hbsc Disease

  • Sickle Cell-Hemoglobin C Disease Syndrome

  • Hb Ss Disease

  • Sickle Cell Trait

  • Drepanocytosis

  • Haemoglobin Sc Disease

  • Hb Sc Disease

  • Hb-S/Hb-C Disease

  • Hb-Ss Disease Without Crisis

  • Hemoglobin S Disease Without Crisis

  • Sickle Cell Anaemia

  • Sickle-Cell/Hb-C Disease Without Crisis

  • Sickle Cell - Hemoglobin C Disease

  • Hbs Disease

  • Hemoglobin S Disease

  • Sickling Disorder Due To Hemoglobin S

  • SKCA

  • Sickle Cell Disease

  • Sickle Cell-Hemoglobin C Disease

  • Sickle-Cell Disease Carrier

  • Sickle-Cell Heterozygous Disorder

  • Haemoglobin A-S Genotype

  • Hb-S - [Sickle Cell Haemoglobin] Carrier

  • Sickle Cell Haemoglobin Trait

  • As - [Sickle Cell Trait]

  • Hbas - [Sickle Cell Haemoglobin Trait]

  • Sickle-Cell Trait Haemoglobin Disease

  • Haemoglobin Sickle Cell Trait Disorder

  • Heterozygous Sickle Cell Trait

  • Hbas - [Heterozygous Haemoglobin S]

Parkinson Disease, Late-Onset
  • Parkinson Disease

  • Parkinson'S Disease

  • PD

  • PARK

  • Parkinson Disease, Susceptibility To

  • Late Onset Parkinson'S Disease

  • Late Onset Parkinson Disease

  • Paralysis Agitans

  • Primary Parkinsonism

  • Idiopathic Parkinson Disease

  • Parkinson'S

  • Parkinson Disease, Late-Onset, Susceptibility To

  • Parkinson Disease, Age Of Onset, Modifier

  • Lewy Body Parkinson Disease

  • Idiopathic Parkinson'S Disease

  • Pd - [Parkinson Disease]

  • Parkinson Disease Nos

  • Parkinson, Nos

  • Primary Parkinson Disease

Severe Combined Immunodeficiency
  • Scid

  • Severe Combined Immunodeficiency Disease

  • Combined T And B Cell Inborn Immunodeficiency

  • Immunodeficiency, Severe Combined

  • Scid - [Severe Combined Immunodeficiencies]

Gliosarcoma
  • Glioblastoma With Sarcomatous Component

  • Sarcomatous Glioblastoma

Long Qt Syndrome 1
  • Romano-Ward Syndrome

  • LQT1

  • Ward-Romano Syndrome

  • Rws

  • Ventricular Fibrillation With Prolonged Qt Interval

  • Wrs

  • Long Qt Syndrome 1, Acquired, Susceptibility To

  • Long Qt Syndrome 1, Acquired

  • Romano-Ward Long Qt Syndrome

  • Long Qt Syndrome Type 1

  • Long Qt Syndrome-1

  • Acquired Susceptibility To Long Qt Syndrome 1

  • Qt Syndrome, Long, Type 1

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

Congenital Nervous System Abnormality
  • Congenital Neurologic Anomaly

  • Congenital Nervous System Disorder

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Hirschsprung Disease 1
  • Hirschsprung Disease

  • Aganglionic Megacolon

  • Hscr

  • Hirschsprung'S Disease

  • Congenital Megacolon

  • Congenital Intestinal Aganglionosis

  • Colonic Aganglionosis

  • Hirschsprung Disease, Susceptibility To, 1

  • Hirschsprung Disease, Protection Against

  • HSCR1

  • Mgc

  • Pelvirectal Achalasia

  • Total Intestinal Aganglionosis

  • Megacolon, Aganglionic

  • Macrocolon

  • Hscr 1

  • Hirschsprung Disease Type 1

  • Hirschsprung Disease, Type 1

  • Congenital Dilatation Of Colon

  • Aganglionosis

  • Congenital Aganglionic Megacolon

  • Aganglionosis Of Colon

  • Bowel Aganglionosis

  • Colon Aganglionosis

  • Hirschsprung Megacolon

Peripheral Nervous System Disease
  • Peripheral Neuropathy

  • Peripheral Nerve Disease

  • Peripheral Nerve Disorders

  • Neuropathy, Peripheral

  • Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Eye Disease
  • Eye Diseases

  • Abnormality Of The Eye

  • Toxoplasma Oculopathy

Nervous System Disease
  • Abnormality Of The Nervous System

  • Nervous System Diseases

  • Nervous System Disorder

Wilms Tumor 1
  • Nephroblastoma

  • Wilms Tumor

  • WT1

  • Wilms' Tumor

  • Bilateral Wilms Tumor

  • Wilms Tumor, Type 1

  • Wilms Tumor, Somatic

  • Adult Nephroblastoma

  • Wt1 Disorder

  • Renal Embryonic Tumor

  • Adult Kidney Wilms Tumor

  • Childhood Kidney Wilms Tumor

  • Nonanaplastic Kidney Wilms Tumor

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Connective Tissue Disease
  • Connective Tissue Diseases

  • Connective Tissue Disorder

  • Abnormality Of Connective Tissue

  • Disorder Of Connective Tissue

  • Connective Tissue Disorders

Amyotrophic Lateral Sclerosis 1
  • Amyotrophic Lateral Sclerosis

  • ALS

  • Lou Gehrig Disease

  • Amyotrophic Lateral Sclerosis Type 1

  • Charcot Disease

  • ALS1

  • Amyotrophic Lateral Sclerosis, Susceptibility To

  • Fals

  • Lou Gehrig'S Disease

  • Mnd

  • Motor Neuron Disease

  • Familial Amyotrophic Lateral Sclerosis

  • Amyotrophic Lateral Sclerosis 1, Familial

  • Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

  • Motor Neuron Disease, Bulbar

  • Motor Neurone Disease

  • Amyotrophic Lateral Sclerosis With Dementia

  • Dementia With Amyotrophic Lateral Sclerosis

  • Motor Neuron Disease, Amyotrophic Lateral Sclerosis

  • Sclerosis, Lateral, Amyotrophic

  • Sclerosis, Lateral, Amyotrophic, Type 1

  • Amyotrophic Sclerosis

  • Als - [Amyotrophic Lateral Sclerosis]

  • Wasting Palsy

  • Amyotrophic Paralysis

  • Amyotrophy Lateral Sclerosis

  • Wasting Paralysis

  • Spinal Progressive Amyotrophy

  • Progressive Atrophic Paralysis

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

Fundus Dystrophy
  • Retinal Dystrophy

  • Retinal Dystrophies

  • Dystrophy, Retinal

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
Felis catus SOX2 VGNC VGNC:65581
Canis familiaris SOX2 VGNC VGNC:46678
Rattus norvegicus SOX2 RGD RGD:1565646
Mus musculus SOX2 MGD MGI:98364
Bos taurus SOX2 VGNC VGNC:35146
Others SOX2 NCBI