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TMEM237 transmembrane protein 237 [ Homo sapiens (human) ]

Gene ID: 65062, updated on 12-Mar-2017
Official Symbol
TMEM237provided by HGNC
Official Full Name
transmembrane protein 237provided by HGNC
Primary source
HGNC:HGNC:14432
See related
Ensembl:ENSG00000155755 MIM:614423; Vega:OTTHUMG00000154526
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]
Orthologs
Location:
2q33.1
Exon count:
14
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (201620184..201643529, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (202484907..202508252, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene C2 calcium dependent domain containing 6 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4 pseudogene 29 Neighboring gene mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5 pseudogene 31 Neighboring gene enolase 1 pseudogene 4 Neighboring gene RNA, U6 small nuclear 651, pseudogene Neighboring gene membrane palmitoylated protein 4 Neighboring gene ALS2, alsin Rho guanine nucleotide exchange factor Neighboring gene ribosomal protein S2 pseudogene 16

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ33282, DKFZp313L091

Gene Ontology Provided by GOA

Process Evidence Code Pubs
cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
ciliary transition zone IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
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

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
    5001..28346
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001044385.2NP_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
    Q96Q45
    Related
    ENSP00000386264, OTTHUMP00000205924, ENST00000409883, OTTHUMT00000335753
    Conserved Domains (1) summary
    pfam15383
    Location:140384
    TMEM237; Transmembrane protein 237
  2. NM_152388.3NP_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/Swiss-Prot
    Q96Q45
    Related
    ENSP00000387203, OTTHUMP00000205925, ENST00000409444, OTTHUMT00000335754
    Conserved Domains (1) summary
    pfam15383
    Location:132376
    TMEM237; Transmembrane protein 237

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

    Range
    201620184..201643529 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018913.2 Alternate CHM1_1.1

    Range
    202491420..202514771 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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