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    CD96 CD96 molecule [ Homo sapiens (human) ]

    Gene ID: 10225, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CD96provided by HGNC
    Official Full Name
    CD96 moleculeprovided by HGNC
    Primary source
    HGNC:HGNC:16892
    See related
    Ensembl:ENSG00000153283 MIM:606037; AllianceGenome:HGNC:16892
    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
    mouse all
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    Genomic context

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    See CD96 in Genome Data Viewer
    Location:
    3q13.13-q13.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (111542197..111665996)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114263009..114386816)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (111261044..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 MED14-independent group 3 enhancer GRCh37_chr3:111227353-111228552 Neighboring gene MPRA-validated peak4766 silencer Neighboring gene MPRA-validated peak4767 silencer Neighboring gene NECTIN2 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111328685-111329884 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111335350-111335850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:111335851-111336351 Neighboring gene zinc finger BED-type containing 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20224 Neighboring gene NT5C3A pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20225 Neighboring gene PLCXD2 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 10775 Neighboring gene phosphatidylinositol specific phospholipase C X domain containing 2 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:111453476-111454675 Neighboring gene uncharacterized LOC107984087 Neighboring gene pleckstrin homology like domain family B member 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:111511689-111512190

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Molecular Pathways: Targeting CD96 and TIGIT for Cancer Immunotherapy. Blake SJ, et al. Clin Cancer Res, 2016 Nov 1. PMID 27620276
    2. Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily. Wang PL, et al. J Immunol, 1992 Apr 15. PMID 1313846
    3. Antibodies TC-12 ("unique") and TH-111 (CD96) characterize T-cell acute lymphoblastic leukemia and a subgroup of acute myeloid leukemia. Gramatzki M, et al. Exp Hematol, 1998 Dec. PMID 9845376
    4. CD96 is a leukemic stem cell-specific marker in human acute myeloid leukemia. Hosen N, et al. Proc Natl Acad Sci U S A, 2007 Jun 26. PMID 17576927, Free PMC Article
    5. [CD96 expression on bone marrow mononuclear cells in 91 patients with acute leukemia]. Wu Y, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2011 Jun. PMID 21729528

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Prognostic impact of enhanced CD96 expression on NK cells by TGF-beta1 in AML.
      Title: Prognostic impact of enhanced CD96 expression on NK cells by TGF-β1 in AML.
    2. CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients.
      Title: CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients.
    3. Deficiency of the CD155-CD96 immune checkpoint controls IL-9 production in giant cell arteritis.
      Title: Deficiency of the CD155-CD96 immune checkpoint controls IL-9 production in giant cell arteritis.
    4. Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and Cancer Stemness by Regulating Mitochondrial Fatty Acid beta-Oxidation.
      Title: Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and Cancer Stemness by Regulating Mitochondrial Fatty Acid β-Oxidation.
    5. Early expression of CD94 and loss of CD96 on CD8+ T cells after allogeneic stem cell tranplantation is predictive of subsequent relapse and survival.
      Title: Early expression of CD94 and loss of CD96 on CD8+ T cells after allogeneic stem cell tranplantation is predictive of subsequent relapse and survival.
    6. CD96 as a Potential Immune Regulator in Cancers.
      Title: CD96 as a Potential Immune Regulator in Cancers.
    7. Natural killer cell profiles in recurrent pregnancy loss: Increased expression and positive associations with TACTILE and LILRB1.
      Title: Natural killer cell profiles in recurrent pregnancy loss: Increased expression and positive associations with TACTILE and LILRB1.
    8. Direct interaction between CD155 and CD96 promotes immunosuppression in lung adenocarcinoma.
      Title: Direct interaction between CD155 and CD96 promotes immunosuppression in lung adenocarcinoma.
    9. Hitting the complexity of the TIGIT-CD96-CD112R-CD226 axis for next-generation cancer immunotherapy.
      Title: Hitting the complexity of the TIGIT-CD96-CD112R-CD226 axis for next-generation cancer immunotherapy.
    10. CD96, a new immune checkpoint, correlates with immune profile and clinical outcome of glioma.
      Title: CD96, a new immune checkpoint, correlates with immune profile and clinical outcome of glioma.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

    Description
    Genome-wide association study of smoking behaviours in patients with COPD.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC22596, DKFZp667E2122

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cell adhesion TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell-matrix adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within cell-matrix adhesion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in inflammatory response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of natural killer cell cytokine production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of type II interferon production IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    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)

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    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_012156.2 RefSeqGene

      Range
      5119..115294
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001318889.2 → NP_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
      Consensus CDS
      CCDS82817.1
      UniProtKB/TrEMBL
      Q8WUE2
      Related
      ENSP00000389801.2, ENST00000438817.6
      Conserved Domains (1) summary
      cl11960
      Location:40 → 137
      Ig; Immunoglobulin domain

    2. NM_001410800.1 → NP_001397729.1  T-cell surface protein tactile isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC055748, AC092916
      Consensus CDS
      CCDS93339.1
      UniProtKB/TrEMBL
      E9PEJ1
      Related
      ENSP00000417152.1, ENST00000494798.2

    3. NM_005816.5 → NP_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/TrEMBL
      B2RCR7
      Related
      ENSP00000342040.3, ENST00000352690.9
      Conserved Domains (1) summary
      cl11960
      Location:39 → 134
      Ig; Immunoglobulin domain

    4. NM_198196.3 → NP_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, Q5JPB3
      UniProtKB/TrEMBL
      B2RCR7
      Related
      ENSP00000283285.5, ENST00000283285.10
      Conserved Domains (1) summary
      cl11960
      Location:39 → 134
      Ig; Immunoglobulin domain

    RNA

    1. NR_134917.2 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      111542197..111665996
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713469.4 → XP_006713532.1  T-cell surface protein tactile isoform X1

      UniProtKB/TrEMBL
      A8K3V4
      Conserved Domains (1) summary
      cl11960
      Location:39 → 134
      Ig; Immunoglobulin domain

    2. XM_047447184.1 → XP_047303140.1  T-cell surface protein tactile isoform X2

    RNA

    1. XR_007093273.1 RNA Sequence

    2. XR_924090.2 RNA Sequence

    3. XR_241462.2 RNA Sequence

    4. XR_007093307.1 RNA Sequence

    5. XR_007093316.1 RNA Sequence

    6. XR_007093335.1 RNA Sequence

    7. XR_007093326.1 RNA Sequence

    8. XR_007093366.1 RNA Sequence

    9. XR_001739977.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      114263009..114386816
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054344908.1 → XP_054200883.1  T-cell surface protein tactile isoform X1

    2. XM_054344909.1 → XP_054200884.1  T-cell surface protein tactile isoform X2

    RNA

    1. XR_008486619.1 RNA Sequence

    2. XR_008486618.1 RNA Sequence

    3. XR_008486617.1 RNA Sequence

    4. XR_008486621.1 RNA Sequence

    5. XR_008486622.1 RNA Sequence

    6. XR_008486624.1 RNA Sequence

    7. XR_008486623.1 RNA Sequence

    8. XR_008486625.1 RNA Sequence

    9. XR_008486620.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P40200.2 GenPept UniProtKB/Swiss-Prot:P40200

    Gene LinkOut

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