Transmembrane Protein 237

Alternative Names

  • TMEM237
  • ALS2 Chromosome Region Gene 4
  • ALS2CR4
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OMIM Number

614423

NCBI Gene ID

65062

Uniprot ID

Q96Q45

Length

23,318 bases

No. of Exons

14

No. of isoforms

5

Protein Name

Transmembrane protein 237

Molecular Mass

45526 Da

Amino Acid Count

408

Genomic Location

chr2:201,620,186-201,643,503

Gene Map Locus
2q33.1

Description

TMEM237 encodes a tetraspanin protein that is a component of the ciliary transition zone. This protein is believed to be involved in the regulation of the Wnt signaling pathway and in cilium assembly.  The protein has been shown to localize mainly to the ciliary transition zone, where it interacts with other proteins, such as NPHP4, TMEM216, B9D1 and B9D2. 

Mutations in this gene result in Joubert Syndrome 14 (JBTS14), a rare autosomal recessive ciliopathy characterized by cerebellar ataxia, oculomotor apraxia, hypotonia, breathing difficulties, abnormal eye and tongue movements, intellectual disability, and brain anomalies.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001044385.3:c.977_978delUnited Arab EmiratesNC_000002.12:g.201627380_201627381delLikely PathogenicJoubert Syndrome 14NG_032049.1:g.21149_21150del; NM_001044385.3:c.977_978del; NP_001037850.1:p.Gln326ProfsTer5

Other Reports

Saudi Arabia

Shaheen et al. (2013) reported on the underlying gene defects affecting Meckel-Gruber syndrome (MKS) patients from 18 consanguineous Saudi families.  Individuals were diagnosed with MKS based on the presence of occipital encephalocele as well as any combination of liver fibrosis, cleft palate, dysplastic kidneys, polydactyly and early lethality.  DNA from both affected and healthy members was obtained and an autozygome guided mutation analysis of known MKS genes was carried out.  When this did not uncover any mutations in some families, an exome sequencing was performed.  Exomes were then searched for compound heterozygous mutations in known MKS genes.  Failing that, all detected variants were filtered for homozygous novel changes within the autozygome. This approach helped detect a novel homozygous mutation in the TMEM237 gene (c.869+1G>A) that abolished a consensus donor site in one of the families.  This mutation resulted in exon skipping which was confirmed by RT-PCR.  An in-frame deletion of >60 amino acids was predicted (p.Met227_Arg291del). 

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