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    TMEM231 transmembrane protein 231 [ Homo sapiens (human) ]

    Gene ID: 79583, updated on 11-Jun-2021

    Summary

    Official Symbol
    TMEM231provided by HGNC
    Official Full Name
    transmembrane protein 231provided by HGNC
    Primary source
    HGNC:HGNC:37234
    See related
    Ensembl:ENSG00000205084 MIM:614949
    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
    MKS11; JBTS20; ALYE870; PRO1886
    Summary
    This gene encodes a transmembrane protein, which is a component of the B9 complex involved in the formation of the diffusion barrier between the cilia and plasma membrane. Mutations in this gene cause Joubert syndrome (JBTS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
    Expression
    Broad expression in testis (RPKM 8.7), thyroid (RPKM 6.9) and 24 other tissues See more
    Orthologs
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    Genomic context

    See TMEM231 in Genome Data Viewer
    Location:
    16q23.1
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (75536741..75556286, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75570639..75590184, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene TMEM231 pseudogene 1 Neighboring gene carbohydrate sulfotransferase 5 Neighboring gene GABA type A receptor associated protein like 2 Neighboring gene adenosine deaminase tRNA specific 1

    Genomic regions, transcripts, and products

    Expression

    • 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

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    GeneReviews: Not available
    Joubert syndrome
    MedGen: C0431399 GeneReviews: Joubert Syndrome
    Compare labs
    Joubert syndrome 20
    MedGen: C3554235 OMIM: 614970 GeneReviews: Joubert Syndrome
    Compare labs
    Meckel syndrome, type 11
    MedGen: C3809352 OMIM: 615397 GeneReviews: Not available
    Compare labs

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ22167

    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 camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cilium assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cilium assembly ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in embryonic digit morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuroepithelial cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of protein localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in smoothened signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in vasculature development IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of MKS complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in ciliary transition zone IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in ciliary transition zone ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_033109.1 RefSeqGene

      Range
      5001..23170
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001077416.2NP_001070884.2  transmembrane protein 231 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK096650, BC010609, BC063677, BM973146, DC330418
      UniProtKB/Swiss-Prot
      Q9H6L2
      Related
      ENSP00000476267.1, ENST00000568377.5
      Conserved Domains (1) summary
      pfam10149
      Location:95348
      TM231; Transmembrane protein 231
    2. NM_001077418.3NP_001070886.1  transmembrane protein 231 isoform 2

      See identical proteins and their annotated locations for NP_001070886.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice junction in the 5' coding region which causes translation initiation at an alternate start codon compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC009163, AK025820, BC016401
      Consensus CDS
      CCDS45530.1
      UniProtKB/Swiss-Prot
      Q9H6L2
      Related
      ENSP00000258173.5, ENST00000258173.11
      Conserved Domains (1) summary
      pfam10149
      Location:1295
      TM231; Transmembrane protein 231

    RNA

    1. NR_074083.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an internal segment in the 5' region and uses an alternate splice site in an internal exon, compared to variant 1. This variant is represented as non-coding due to the presence of an upstream ORF that is predicted to interfere with translation of the longest ORF; translation of the upstream ORF renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC009163, AK096650, BC010609, BC016401, BC063677, BU173659, DC330418

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

      Range
      75536741..75556286 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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