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    CD96 CD96 molecule [ Homo sapiens (human) ]

    Gene ID: 10225, updated on 8-Dec-2018

    Summary

    Official Symbol
    CD96provided by HGNC
    Official Full Name
    CD96 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:16892
    See related
    Ensembl:ENSG00000153283 MIM:606037
    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
    TACTILE
    Summary
    The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]
    Expression
    Broad expression in lymph node (RPKM 4.8), appendix (RPKM 2.7) and 15 other tissues See more
    Orthologs

    Genomic context

    See CD96 in Genome Data Viewer
    Location:
    3q13.13-q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 3 NC_000003.12 (111542079..111665996)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111260926..111384843)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374038 Neighboring gene uncharacterized LOC105374039 Neighboring gene ATPase H+ transporting V0 subunit c pseudogene 2 Neighboring gene 5'-nucleotidase, cytosolic IIIA pseudogene Neighboring gene zinc finger BED-type containing 2 Neighboring gene PLCXD2 antisense RNA 1 Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 2 Neighboring gene uncharacterized LOC107984087 Neighboring gene pleckstrin homology like domain family B member 2

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    C syndrome
    MedGen: C0796095 OMIM: 211750 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • Adaptive Immune System, organism-specific biosystem (from REACTOME)
      Adaptive Immune System, organism-specific biosystemAdaptive immunity refers to antigen-specific immune response efficiently involved in clearing the pathogens. The adaptive immune system is comprised of B and T lymphocytes that express receptors with...
    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystem (from REACTOME)
      Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell, organism-specific biosystemA number of receptors and cell adhesion molecules play a key role in modifying the response of cells of lymphoid origin (such as B-, T- and NK cells) to self and tumor antigens, as well as to pathoge...

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC22596, DKFZp667E2122

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell adhesion TAS
    Traceable Author Statement
    more info
    PubMed 
    cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytokine production involved in inflammatory response IEA
    Inferred from Electronic Annotation
    more info
     
    immune response TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of interferon-gamma production IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of natural killer cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of immune response TAS
    Traceable Author Statement
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    adherens junction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    T-cell surface protein tactile
    Names
    T cell activation, increased late expression
    cell surface antigen CD96
    t cell-activated increased late expression protein

    NCBI Reference Sequences (RefSeq)

    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_012156.2 RefSeqGene

      Range
      5001..115281
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318889.1NP_001305818.1  T-cell surface protein tactile isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks several exons and its 3' terminal exon extends past a splice site that is used in variant 1. This results in a novel 3' coding region and 3' UTR, compared to variant 1. It encodes isoform 3 which is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC055748, BC020749, BM561433, DB130968
      Consensus CDS
      CCDS82817.1
      UniProtKB/TrEMBL
      Q8WUE2
      Related
      ENSP00000389801.2, ENST00000438817.6
      Conserved Domains (1) summary
      cl11960
      Location:40137
      Ig; Immunoglobulin domain
    2. NM_005816.4NP_005807.1  T-cell surface protein tactile isoform 2 precursor

      See identical proteins and their annotated locations for NP_005807.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC055748, AC092916, AL833681
      Consensus CDS
      CCDS2958.1
      UniProtKB/Swiss-Prot
      P40200
      Related
      ENSP00000342040.3, ENST00000352690.8
      Conserved Domains (1) summary
      cl11960
      Location:39134
      Ig; Immunoglobulin domain
    3. NM_198196.2NP_937839.1  T-cell surface protein tactile isoform 1 precursor

      See identical proteins and their annotated locations for NP_937839.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC055748, AC092916, AL833681
      Consensus CDS
      CCDS2959.1
      UniProtKB/Swiss-Prot
      P40200
      Related
      ENSP00000283285.5, ENST00000283285.9
      Conserved Domains (1) summary
      cl11960
      Location:39134
      Ig; Immunoglobulin domain

    RNA

    1. NR_134917.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an internal exon and has an alternate 3' exon structure, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC055748, AK290719, BM561433, DB130968

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p12 Primary Assembly

      Range
      111542079..111665996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713469.3XP_006713532.1  T-cell surface protein tactile isoform X1

      Conserved Domains (1) summary
      cl11960
      Location:39134
      Ig; Immunoglobulin domain
    2. XM_017005521.1XP_016861010.1  T-cell surface protein tactile isoform X3

    3. XM_006713470.3XP_006713533.1  T-cell surface protein tactile isoform X2

      UniProtKB/TrEMBL
      E9PEJ1
      Related
      ENSP00000417152.1, ENST00000494798.1
      Conserved Domains (1) summary
      cl11960
      Location:39134
      Ig; Immunoglobulin domain
    4. XM_017005522.1XP_016861011.1  T-cell surface protein tactile isoform X4

    5. XM_005247063.3XP_005247120.1  T-cell surface protein tactile isoform X5

      Conserved Domains (1) summary
      cl11960
      Location:39134
      Ig; Immunoglobulin domain

    RNA

    1. XR_924090.1 RNA Sequence

    2. XR_241462.1 RNA Sequence

    3. XR_001739977.1 RNA Sequence

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