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    TMEM237 transmembrane protein 237 [ Homo sapiens (human) ]

    Gene ID: 65062, updated on 5-Nov-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

    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

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ33282, DKFZp313L091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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
      ENSP00000386264.2, OTTHUMP00000205924, ENST00000409883.6, 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
      ENSP00000387203.2, OTTHUMP00000205925, ENST00000409444.6, OTTHUMT00000335754
      Conserved Domains (1) summary
      pfam15383
      Location:132376
      TMEM237; Transmembrane protein 237

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    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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