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CD96 CD96 molecule [ Homo sapiens (human) ]

Gene ID: 10225, updated on 3-Apr-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
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Genomic context

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Location:
3q13.13-q13.2
Exon count:
19
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (111542197..111665996)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (114263009..114386816)
105.20220307 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. CD96 as a Potential Immune Regulator in Cancers. Feng S, et al. Int J Mol Sci, 2023 Jan 9. PMID 36674817, Free PMC Article
  2. Tumor Cell-Intrinsic CD96 Mediates Chemoresistance and Cancer Stemness by Regulating Mitochondrial Fatty Acid β-Oxidation. Li J, et al. Adv Sci (Weinh), 2023 Mar. PMID 36581470, Free PMC Article
  3. CD96, a new immune checkpoint, correlates with immune profile and clinical outcome of glioma. Liu F, et al. Sci Rep, 2020 Jul 1. PMID 32612110, Free PMC Article
  4. Human CD96 Correlates to Natural Killer Cell Exhaustion and Predicts the Prognosis of Human Hepatocellular Carcinoma. Sun H, et al. Hepatology, 2019 Jul. PMID 30411378
  5. The immune checkpoint CD96 defines a distinct lymphocyte phenotype and is highly expressed on tumor-infiltrating T cells. Lepletier A, et al. Immunol Cell Biol, 2019 Feb. PMID 30222899

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients.
    Title: CD44, CD90 and CD96 expression in immune thrombocytopenia purpura (ITP) patients.
  2. 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.
  3. 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.
  4. 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.
  5. CD96 as a Potential Immune Regulator in Cancers.
    Title: CD96 as a Potential Immune Regulator in Cancers.
  6. 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.
  7. Direct interaction between CD155 and CD96 promotes immunosuppression in lung adenocarcinoma.
    Title: Direct interaction between CD155 and CD96 promotes immunosuppression in lung adenocarcinoma.
  8. 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.
  9. 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.
  10. CD96 functions as a co-stimulatory receptor to enhance CD8(+) T cell activation and effector responses.
    Title: CD96 functions as a co-stimulatory receptor to enhance CD8(+) T cell activation and effector responses.
Submit: New GeneRIF Correction See all GeneRIFs (26)

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)

Genotypes

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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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, ENST00000494798.1

  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_2023_10

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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