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TMEM237 transmembrane protein 237 [ Homo sapiens (human) ]

Gene ID: 65062, updated on 5-Mar-2024

Summary

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Official Symbol
TMEM237provided by HGNC
Official Full Name
transmembrane protein 237provided by HGNC
Primary source
HGNC:HGNC:14432
See related
Ensembl:ENSG00000155755 MIM:614423; AllianceGenome:HGNC:14432
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
JBTS14; ALS2CR4
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]
Expression
Ubiquitous expression in skin (RPKM 10.1), adrenal (RPKM 5.6) and 24 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q33.1
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (201620186..201643503, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (202100839..202124155, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202484909..202508226, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12233 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:202427174-202427863 Neighboring gene MT-ND4L pseudogene 16 Neighboring gene MT-ND4 pseudogene 29 Neighboring gene MT-ND5 pseudogene 31 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12234 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12235 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene MAGUK p55 scaffold protein 4 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202563997-202564498 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr2:202564499-202564998 Neighboring gene alsin Rho guanine nucleotide exchange factor ALS2 Neighboring gene ribosomal protein S2 pseudogene 16

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. TMEM67, TMEM237, and Embigin in Complex With Monocarboxylate Transporter MCT1 Are Unique Components of the Photoreceptor Outer Segment Plasma Membrane. Skiba NP, et al. Mol Cell Proteomics, 2021. PMID 33933680, Free PMC Article
  2. Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology. Sabui S, et al. Am J Physiol Cell Physiol, 2019 Jun 1. PMID 30892938, Free PMC Article
  3. Deciphering the structure and function of Als2cr4 in the mouse retina. Zuniga FI, et al. Invest Ophthalmol Vis Sci, 2010 Sep. PMID 20375344, Free PMC Article
  4. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. Huang L, et al. Am J Hum Genet, 2011 Dec 9. PMID 22152675, Free PMC Article
  5. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Hadano S, et al. Nat Genet, 2001 Oct. PMID 11586298

See all (37) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. TMEM237 in HuTu-80 cells led to a significant induction in riboflavin uptake. Transfecting TMEM237 into HuTu-80 cells led to a marked enhancement in hRFVT-3 protein stability (reflected by an increase in protein half-life).
    Title: Identification of transmembrane protein 237 as a novel interactor with the intestinal riboflavin transporter-3 (RFVT-3): role in functionality and cell biology.
  2. TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone
    Title: TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Familial aplasia of the vermis
MedGen: C0431399 GeneReviews: Joubert Syndrome
Compare labs
Joubert syndrome 14
MedGen: C3280766 OMIM: 614424 GeneReviews: Joubert Syndrome
Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TMEM237 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ33282, DKFZp313L091

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cilium assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cilium assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in ciliary transition zone IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in ciliary transition zone IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cone photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  
located_in membrane HDA PubMed 
located_in photoreceptor connecting cilium IEA
Inferred from Electronic Annotation
more info
  
located_in rod photoreceptor outer segment IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
transmembrane protein 237
Names
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4
amyotrophic lateral sclerosis 2 chromosomal region candidate gene 4 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_032049.1 RefSeqGene

    Range
    5027..28344
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001044385.3 → NP_001037850.1  transmembrane protein 237 isoform a

    See identical proteins and their annotated locations for NP_001037850.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AB053301, AC007282, BP226834
    Consensus CDS
    CCDS46489.1
    UniProtKB/Swiss-Prot
    B4E1R8, B4E2R8, E9PAR8, E9PBF8, E9PG24, E9PGX0, Q53TS9, Q53TT2, Q7Z3B6, Q8IZ18, Q8NBF8, Q96CY1, Q96Q45
    UniProtKB/TrEMBL
    A0A087WWU1
    Related
    ENSP00000386264.2, ENST00000409883.7
    Conserved Domains (1) summary
    pfam15383
    Location:140 → 384
    TMEM237; Transmembrane protein 237

  2. NM_152388.4 → NP_689601.2  transmembrane protein 237 isoform b

    See identical proteins and their annotated locations for NP_689601.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB053301, AC007279, AC007282
    Consensus CDS
    CCDS46490.1
    UniProtKB/TrEMBL
    A0A087WWU1
    Related
    ENSP00000387203.2, ENST00000409444.6
    Conserved Domains (1) summary
    pfam15383
    Location:132 → 376
    TMEM237; Transmembrane protein 237

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    201620186..201643503 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    202100839..202124155 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96Q45.2 GenPept UniProtKB/Swiss-Prot:Q96Q45

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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