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    TSPAN12 tetraspanin 12 [ Homo sapiens (human) ]

    Gene ID: 23554, updated on 8-May-2017
    Official Symbol
    TSPAN12provided by HGNC
    Official Full Name
    tetraspanin 12provided by HGNC
    Primary source
    HGNC:HGNC:21641
    See related
    Ensembl:ENSG00000106025 MIM:613138; Vega:OTTHUMG00000156980
    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
    EVR5; NET2; NET-2; TM4SF12
    Summary
    The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    7q31.31
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (120787320..120858369, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (120427374..120498420, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105375477 Neighboring gene potassium voltage-gated channel subfamily D member 2 Neighboring gene RNA, U6 small nuclear 581, pseudogene Neighboring gene RNA, 5S ribosomal pseudogene 240 Neighboring gene inhibitor of growth family member 3

    • 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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT Wnt-activated receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    angiogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cell surface receptor signaling pathway ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    retina layer formation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    integral component of membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    integral component of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    Preferred Names
    tetraspanin-12
    Names
    tetraspan NET-2
    transmembrane 4 superfamily member 12
    tspan-12

    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_023203.1 RefSeqGene

      Range
      5001..75804
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_012338.3NP_036470.1  tetraspanin-12

      See identical proteins and their annotated locations for NP_036470.1

      Status: REVIEWED

      Source sequence(s)
      AY358703, BC031265, BF338835, BI964728
      Consensus CDS
      CCDS5777.1
      UniProtKB/Swiss-Prot
      O95859
      UniProtKB/TrEMBL
      A0A024R740
      Related
      ENSP00000222747.3, OTTHUMP00000211223, ENST00000222747.7, OTTHUMT00000346951
      Conserved Domains (2) summary
      cd03157
      Location:116218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9248
      Tetraspannin; Tetraspanin family

    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_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      120787320..120858369 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005250239.2XP_005250296.1  tetraspanin-12 isoform X1

      See identical proteins and their annotated locations for XP_005250296.1

      UniProtKB/Swiss-Prot
      O95859
      UniProtKB/TrEMBL
      A0A024R740
      Conserved Domains (2) summary
      cd03157
      Location:116218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9248
      Tetraspannin; Tetraspanin family
    2. XM_017011912.1XP_016867401.1  tetraspanin-12 isoform X1

      UniProtKB/Swiss-Prot
      O95859
      UniProtKB/TrEMBL
      A0A024R740
      Related
      ENSP00000397699.1, OTTHUMP00000211224, ENST00000415871.5, OTTHUMT00000346952
      Conserved Domains (2) summary
      cd03157
      Location:116218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9248
      Tetraspannin; Tetraspanin family
    3. XM_017011913.1XP_016867402.1  tetraspanin-12 isoform X2

    4. XM_011515993.1XP_011514295.1  tetraspanin-12 isoform X1

      See identical proteins and their annotated locations for XP_011514295.1

      UniProtKB/Swiss-Prot
      O95859
      UniProtKB/TrEMBL
      A0A024R740
      Conserved Domains (2) summary
      cd03157
      Location:116218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9248
      Tetraspannin; Tetraspanin family
    5. XM_011515994.1XP_011514296.1  tetraspanin-12 isoform X1

      See identical proteins and their annotated locations for XP_011514296.1

      UniProtKB/Swiss-Prot
      O95859
      UniProtKB/TrEMBL
      A0A024R740
      Conserved Domains (2) summary
      cd03157
      Location:116218
      TM4SF12_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), TM4SF12_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...
      pfam00335
      Location:9248
      Tetraspannin; Tetraspanin family
    6. XM_017011914.1XP_016867403.1  tetraspanin-12 isoform X3

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      120360669..120431498 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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