1. Gene
  2. FREM2 - FRAS1 related extracellular matrix 2 Gene

FREM2 - FRAS1 related extracellular matrix 2 Gene

Homo sapiens

Also known as CRYPTOP; FRASRS2

Gene ID: 341640 | Gene type: protein coding

About FREM2

Cytogenetic location: 13q13.3 Genomic coordinates (GRCh38): 13:38,687,077-38,887,131 (from NCBI)

This gene has 2 transcripts (splice variants), 278 orthologues, 7 paralogues and is associated with 6 phenotypes. Biased expression in kidney (RPKM 4.7), thyroid (RPKM 3.2) and 11 other tissues.

Summary

This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014]

FREM2 Products(1)

mRNA Protein Name
NM_207361.6 NP_997244.4 FRAS1-related extracellular matrix protein 2 precursor

FREM2 Protein Structure

Calx-beta

Calx-beta: Calx-beta domain (1770 - 1858)

Calx-beta

Calx-beta: Calx-beta domain (1871 - 1982)

Calx-beta

Calx-beta: Calx-beta domain (1998 - 2102)

Calx-beta

Calx-beta: Calx-beta domain (2117 - 2219)

Calx-beta

Calx-beta: Calx-beta domain (2244 - 2341)

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  • 3169 a.a.
Protein Preferred Names Protein Names

FRAS1-related extracellular matrix protein 2

ECM3 homolog

Related Diseases

Diseases Alias
Fraser Syndrome 2

FRASRS2

Cryptophthalmos, Unilateral Or Bilateral, Isolated

Isolated Cryptophthalmia

CRYPTOP

Ankyloblepharon, Simple

Cryptophthalmos With Microphthalmia And Peters Anomaly

Unilateral Or Bilateral Isolated Cryptophthalmos

Renal Hypodysplasia/Aplasia 3

RHDA3

Renal Agenesis, Unilateral

Unilateral Renal Agenesis

Cryptophthalmos
Anus Disease

Anal Fissure

Ulcer Of Anus

Anus Diseases

Anal Disease

Anal Fissure And Fistula

Anal Ulcer

Fissure In Ano

Nontraumatic Tear Of Anus

Solitary Anal Ulcer

Abnormality Of The Anus

Anal Disorders

Ulcer Of Anus And Rectum

Solitary Ulcer Of Anus

Stercoral Ulcer Of Anus

Cryptophthalmia

Microblepharon

Cryptophthalmos Nos

Complete Cryptophthalmia
Fraser Syndrome 1

Fraser Syndrome

Cryptophthalmos With Other Malformations

Cryptophthalmos Syndrome

FRASRS1

Cryptophthalmos-Syndactyly Syndrome

Fraser-Francois Syndrome

Cyclopism

Meyer-Schwickerath'S Syndrome

Ulrich-Feichtiger Syndrome

Cryptophthalmos Syndactyly Syndrome

Fraser'S Syndrome

Meyer-Schwickerath Syndrome

Ullrich-Feichtiger Syndrome

Congenital Symblepharon
Childhood-Onset Schizophrenia

Childhood Schizophrenia

Schizophrenia, Childhood

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Cakut

Renal Or Urinary Tract Malformation

Congenital Anomalies Of Kidney And Urinary Tract

Congenital Anomaly Of Kidney And Urinary Tract

Congenital Anomalies Of The Kidney And Urinary Tract

Kidney And Urinary Tract, Anomalies, Congenital

Renal Hypodysplasia, Nonsyndromic, 1

Laryngostenosis

Stenosis Of Larynx

Laryngeal Stenosis

Laryngeal Stricture

Larynx Stenosis

Larynx Stricture

Larynx Narrowing

Partial Cryptophthalmia

Incomplete Cryptophthalmos

Zygodactyly 1

Zd1

Zygodactyly Type 1

Sd1, Weidenreich Type

Sd1a

Syndactyly Type 1, Weidenreich Type

Syndactyly Type 1a

Zygodactyly, Weidenreich Type

Chronic Inflammation Of Lacrimal Passage
Dacryocystocele

Lacrimal Mucocele

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Acrorenal Syndrome
Gliosarcoma

Glioblastoma With Sarcomatous Component

Sarcomatous Glioblastoma

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

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome

AMS

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

Eye Abnormalities

Microphthalmia, Syndromic 12

Microphthalmia With Or Without Pulmonary Hypoplasia, Diaphragmatic Hernia, And/Or Cardiac Defects

MCOPS12

Syndromic Microphthalmia 12

Syndromic Microphthalmia-12

Microphthalmia, Syndromic, 12

Microphthalmia, Syndromic, Type 12

Papillorenal Syndrome

Renal Coloboma Syndrome

Coloboma Of Optic Nerve With Renal Disease

Renal-Coloboma Syndrome

Optic Nerve Coloboma With Renal Disease

Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies

Renal-Coloboma Syndrome With Macular Abnormalities

Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities

Cakut With Or Without Ocular Abnormalities

PAPRS

Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies

Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease

Coloboma-Ureteral-Renal Syndrome

Oncr

Optic Nerve Coloboma Renal Syndrome

Rcs

Papillo-Renal Syndrome

Optic Coloboma Vesicoureteral Reflux And Renal Anomalies

Congenital Anomalies Of Kidney And Urinary Tract 2

CAKUT2

Ureteropelvic Junction Obstruction

Multicystic Renal Dysplasia, Bilateral

Pelviureteric Junction Obstruction

Pujo

Hydronephrosis Due To Pujo

Upjo

Mcrd

Congenital Anomalies Of The Kidney And Urinary Tract 2

Mrd

Pelvi-Ureteric Junction Obstruction

Kidney And Urinary Tract, Anomalies, Congenital, Type 2

Obstruction Of Pelviureteric Junction

Treacher Collins Syndrome 1

Treacher Collins Syndrome

Mandibulofacial Dysostosis

Treacher Collins-Franceschetti Syndrome

Tcof

Tcs

Mfd1

Franceschetti-Klein Syndrome

TCS1

Franceschetti Syndrome

Franceschetti-Zwahlen-Klein Syndrome

Zygoauromandibular Dysplasia

Treacher-Collins Syndrome

Mandibulofacial Dysostosis Without Limb Anomalies

Bilateral And Symmetric Oto-Mandibular Dysplasia

Townes-Brocks Syndrome

Townes Syndrome

Renal-Ear-Anal-Radial Syndrome

Anus, Imperforate, With Hand, Foot And Ear Anomalies

Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome

Rear Syndrome

Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs

Tbs

Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs

Imperforate Anus With Hand, Foot And Ear Anomalies

Anal-Ear-Renal-Radial Malformation Syndrome

Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Imperforate Anus-Hand And Foot Anomalies Syndrome

Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome

Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs

Anus, Imperforate

Imperforate Anus

Anorectal Malformation

Anal Atresia

Anorectal Malformations

Congenital Atresia Of Anus

Congenital Or Infantile Occlusion Of Anus

Anal Stenosis

Arm

Synostosis
Oligohydramnios

Oligohydramnios - Delivered

Antepartum Oligohydramnios

Delivered Oligohydramnios

Oligohydramnios, Antepartum Condition Or Complication

Deficient Liquor

Oligohydramnios, Unspecified Trimester

Reduced Liquor Volume

Diaphragm Disease

Abnormality Of The Diaphragm

Disease Of Diaphragm

Diaphragmatic Disorder

Disorder Of Diaphragm

Epidermolysis Bullosa Dystrophica

Dystrophic Epidermolysis Bullosa

Deb

Dermolytic Epidermolysis Bullosa

Epidermolysis Bullosa, Dermolytic

Epidermolysis Bullosa, Dystrophic

Epidermolysis Bullosa Dystrophic

Dystrophic Eb - [Epidermolysis Bullosa]

Chromosomal Duplication Syndrome
Vesicoureteral Reflux

Vesico-Ureteral Reflux

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

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Noonan Syndrome 1

Noonan Syndrome

NS1

Male Turner Syndrome

Female Pseudo-Turner Syndrome

Turner Phenotype With Normal Karyotype

Noonan Syndrome With Pigmented Villonodular Synovitis

Turner'S Phenotype, Karyotype Normal

Familial Turner Syndrome

Noonan'S Syndrome

Noonan-Ehmke Syndrome

Ns

Pseudo-Ullrich-Turner Syndrome

Turner Syndrome In Female With X Chromosome

Turner-Like Syndrome

Ullrich-Noonan Syndrome

Noonan-Like/Multiple Giant Cell Lesion Syndrome

Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions

Pterygium Colli Syndrome

Noonan Syndrome, Type 1

Turner Syndrome, Male

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 FREM2 VGNC VGNC:62356
Rattus norvegicus FREM2 RGD RGD:1566012
Canis familiaris FREM2 VGNC VGNC:40977
Bos taurus FREM2 VGNC VGNC:29111
Mus musculus FREM2 MGD MGI:2444465
Macaca mulatta FREM2 VGNC VGNC:72784