Gene Gene information from NCBI Gene database.
Entrez ID 10225
Gene name CD96 molecule
Gene symbol CD96
Synonyms (NCBI Gene)
TACTILE
Chromosome 3
Chromosome location 3q13.13-q13.2
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 fun
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs119477056 C>A,T Pathogenic Non coding transcript variant, missense variant, intron variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
278
miRTarBase ID miRNA Experiments Reference
MIRT019019 hsa-miR-335-5p Microarray 18185580
MIRT682964 hsa-miR-1273g-3p HITS-CLIP 23706177
MIRT682963 hsa-miR-4252 HITS-CLIP 23706177
MIRT682962 hsa-miR-6807-5p HITS-CLIP 23706177
MIRT680068 hsa-miR-186-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0002728 Process Negative regulation of natural killer cell cytokine production IEA
GO:0005737 Component Cytoplasm IDA 17847009
GO:0005886 Component Plasma membrane TAS 1313846
GO:0006954 Process Inflammatory response IBA
GO:0006955 Process Immune response TAS 1313846
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606037 16892 ENSG00000153283
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40200
Protein name T-cell surface protein tactile (Cell surface antigen CD96) (T cell-activated increased late expression protein) (CD antigen CD96)
Protein function May be involved in adhesive interactions of activated T and NK cells during the late phase of the immune response. Promotes NK cell-target adhesion by interacting with PVR present on target cells. May function at a time after T and NK cells have
PDB 6ARQ
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed on normal T-cell lines and clones, and some transformed T-cells, but no other cultured cell lines tested. It is expressed at very low levels on activated B-cells.
Sequence
MEKKWKYCAVYYIIQIHFVKGVWEKTVNTEENVYATLGSDVNLTCQTQTVGFFVQMQWSK
VTNKIDLIAVYHPQYGFYCAYGRPCESLVTFTETPENGSKWTLHLRNMSCSVSGRYECML
VLYPEGIQTKIYNLLIQTHVTADEWNSNHTIEIEINQTLEIPCFQNSSSKISSEFTYAWS
VENSSTDSWVLLSKGIKEDNGTQETLISQNHLISNSTLLKDRVKLGTDYRLHLSPVQIFD
DGRKFSCHIRVGPNKILRSSTTVKVFAKPEIPVIVENNSTDVLVERRFTCLLKNVFPKAN
ITWFIDGSFLHDEKEGIYITNEERKGKDGFLELKSVLTRVHSNKPAQSDNLTIWCMALSP
VPGNKVWNISSEKITFLLGSEISSTDPPLSVTESTLDTQPSPASSVSPARYPATSSVTLV
DVSALRPNTTPQPSNSSMTTRGFNYPWTSSGTDTKKSVSRIPSETYSSSPSGAGSTLHDN
VFTSTARAFSEVPTTANGSTKTNHVHITGIVVNKPKDGMSWPVIVAALLFCCMILFGLGV
RKWCQYQKEIMERPPPFKPPPPPIKYTCIQEPNESDLPYHEMETL
Sequence length 585
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
42
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C syndrome Pathogenic rs119477056 RCV000004903
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs34636484 RCV005928287
CD96-related disorder Benign; Uncertain significance; Likely benign rs2276872, rs138396447, rs1170323393, rs377183280, rs201367770, rs193254047, rs1937342582, rs141120514 RCV003984167
RCV003943673
RCV003984742
RCV003917197
RCV003924303
RCV003951384
RCV003966971
RCV003920526
Cervical cancer Benign rs77738677 RCV005897575
Clear cell carcinoma of kidney Benign rs77738677 RCV005897576
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35946526
Angina Pectoris Inhibit 26823790
Breast Neoplasms Associate 30947698
Carcinogenesis Associate 36043142
Colorectal Neoplasms Associate 30383736
Connective Tissue Diseases Associate 22208759
Drug Related Side Effects and Adverse Reactions Stimulate 23272144
Dwarfism Pituitary Associate 40660273
Fibromyalgia Associate 34913882
Genetic Diseases Inborn Associate 22208759