1. Gene
  2. TMEM237 - transmembrane protein 237 Gene

TMEM237 - transmembrane protein 237 Gene

Homo sapiens

Also known as JBTS14; ALS2CR4

Gene ID: 65062 | Gene type: protein coding

About TMEM237

Cytogenetic location: 2q33.1 Genomic coordinates (GRCh38): 2:201,620,186-201,643,503 (from NCBI)

This gene has 14 transcripts (splice variants), 253 orthologues and is associated with 6 phenotypes. Ubiquitous expression in skin (RPKM 10.1), adrenal (RPKM 5.6) and 24 other tissues.

Summary

The protein encoded by this gene is a tetraspanin protein that is thought to be involved in Wnt signaling. Defects in this gene are a cause of Joubert syndrome-14. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

TMEM237 Products(2)

mRNA Protein Name
NM_001044385.3 NP_001037850.1 transmembrane protein 237 isoform a
NM_152388.4 NP_689601.2 transmembrane protein 237 isoform b
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
26595381 GOA
Biological Process GO Annotation Evidence Reference Source
involved in cilium assembly IMP
IMP: Inferred from mutant phenotype
22152675 GOA
involved in regulation of Wnt signaling pathway IMP
IMP: Inferred from mutant phenotype
22152675 GOA
Cellular Component GO Annotation Evidence Reference Source
located in ciliary transition zone IDA
IDA: Inferred from direct assay
22152675 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

TMEM237 Protein Structure

TMEM237

TMEM237: Transmembrane protein 237 (138 - 384)

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

transmembrane protein 237

amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4

Related Diseases

Diseases Alias
Joubert Syndrome 14

JBTS14

Joubert Syndrome, Type 14

Joubert Syndrome 1

Joubert Syndrome

Jbts

Cerebellooculorenal Syndrome 1

JBTS1

Joubert-Boltshauser Syndrome

Cerebelloparenchymal Disorder Iv

Cpd4

Cors1

Joubert Syndrome And Related Disorders

Jsrd

Familial Aplasia Of The Vermis

Joubert Syndrome Related Disorders

Js

Cerebellar Vermis Agenesis

Cerebelloparenchymal Disorder 4

Agenesis Of Cerebellar Vermis

Cerebello-Oculo-Renal Syndrome

Cors

Joubert-Bolthauser Syndrome

Cpd Iv

Classic Joubert Syndrome

Joubert Syndrome Type A

Pure Joubert Syndrome

Cerebello-Oculo-Renal Syndrome 1

Joubert Syndrome-1

Joubert Syndrome, Type 1

Joubert'S Syndrome

Joubert Syndrome 4

JBTS4

Joubert Syndrome With Renal Defect

Joubert Syndrome With Renal Anomalies

Js-R

Joubert Syndrome, Type 4

Arima Syndrome

Dekaban-Arima Syndrome

Joubert Syndrome With Bilateral Chorioretinal Coloboma

Cors

Cerebello-Oculo-Renal Syndrome

Cerebellooculorenal Syndrome

Js Type B

Js-Or

Joubert Syndrome 5

Joubert Syndrome With Senior-Loken Syndrome

Joubert Syndrome With Oculorenal Defect

Coloboma, Chorioretinal, With Cerebellar Vermis Aplasia

Cerebrooculohepatorenal Syndrome

Joubert Syndrome With Oculorenal Anomalies

Cerebro-Oculo-Hepato-Renal Syndrome

Chorioretinal Coloboma With Cerebellar Vermis Aplasia

Dekaban Arima Syndrome

Cor

Bj

Familial Aplasia Of The Vermis

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome

Meckel Syndrome

Dysencephalia Splanchnocystica

Meckel Syndrome 1

MKS1

Mks

Gruber Syndrome

Meckel-Gruber Syndrome, Type 1

Mes

Dysencephalia Splachnocystica

Meckel Gruber Syndrome

Meckel Syndrome Type 1

Joubert Syndrome 15

JBTS15

Joubert Syndrome, Type 15

Amyotrophic Lateral Sclerosis 2, Juvenile

ALS2

Als, Juvenile

Alsj

Amyotrophic Lateral Sclerosis Type 2

Amyotrophic Lateral Sclerosis 2

Amyotrophic Lateral Sclerosis Type 2, Juvenile

Amyotrophic Lateral Sclerosis Juvenile

Amyotrophic Lateral Sclerosis Juvenile 2

Sclerosis, Lateral, Amyotrophic, Type Type 2

Joubert Syndrome 16

JBTS16

Joubert Syndrome, Type 16

Coach Syndrome 1

Coach Syndrome

Joubert Syndrome With Congenital Hepatic Fibrosis

Gentile Syndrome

Joubert Syndrome With Hepatic Defect

Js-H

COACH1

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis

Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis

Joubert Syndrome 20

JBTS20

Joubert Syndrome, Type 20

Polydactyly

Non-Syndromic Polydactyly

Polydactyly, Postaxial

Postaxial Polydactyly

Supernumerary Digit

Extra Digits

Hyperdactyly

Polydactylia

Polydactylism

Supernumerary Digits

Orofaciodigital Syndrome Vi

OFD6

Varadi-Papp Syndrome

Varadi Syndrome

Joubert Syndrome With Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Orofaciodigital Syndrome 6

Oral-Facial-Digital Syndrome, Type Vi

Ofds Vi

Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

Polydactyly Cleft Lip Palate Psychomotor Retardation

Oral-Facial-Digital Syndrome Type 6

Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

Váradi Syndrome

Váradi-Papp Syndrome

Joubert Syndrome With Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome 6

Joubert-Orofaciodigital Syndrome

Orofaciodigital Syndrome, Type Vi

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1

Jeune Syndrome

SRTD1

Atd1

Asphyxiating Thoracic Dystrophy Of The Newborn

Jatd

Jeune Asphyxiating Thoracic Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Atd

Asphyxiating Thoracic Dystrophy

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune'S Syndrome

Thoracic Pelvic Phalangeal Dystrophy

Jeune Thoracic Dystrophy

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

Nephronophthisis

Medullary Cystic Disease

Medullary Cystic Kidney

Nph

Nphp

Kidney Disease, Cystic, Medullary

Asphyxiating Thoracic Dystrophy

Jeune Thoracic Dystrophy

Jeune Syndrome

Asphyxiating Thoracic Dysplasia

Short-Rib Thoracic Dysplasia With Or Without Polydactyly

Thoracic Pelvic Phalangeal Dystrophy

Asphyxiating Thoracic Chondrodystrophy

Atd

Chondroectodermal Dysplasia-Like Syndrome

Infantile Thoracic Dystrophy

Jeune Thoracic Dysplasia

Thoracic Asphyxiant Dystrophy

Thoracic-Pelvic-Phalangeal Dystrophy

Short-Rib Thoracic Dysplasia Without Polydactyly

Asphyxiating Thoracic Dystrophy Of The Newborn

Asphyxiating Thorax Dystrophy

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary

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
Bos taurus TMEM237 VGNC VGNC:36050
Rattus norvegicus TMEM237 RGD RGD:1306705
Mus musculus TMEM237 MGD MGI:2138365
Canis familiaris TMEM237 VGNC VGNC:47547
Macaca mulatta TMEM237 VGNC VGNC:78958