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CD96 CD96 molecule [ Homo sapiens (human) ]

Gene ID: 10225, updated on 28-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (111542118..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 zinc finger BED-type containing 2 Neighboring gene NT5C3A pseudogene 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What'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 PubChem

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 IBA
Inferred from Biological aspect of Ancestor
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 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
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
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
    5119..115294
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001318889.2NP_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:40137
    Ig; Immunoglobulin domain
  2. NM_005816.5NP_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, ENST00000352690.9
    Conserved Domains (1) summary
    cl11960
    Location:39134
    Ig; Immunoglobulin domain
  3. NM_198196.3NP_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, ENST00000283285.10
    Conserved Domains (1) summary
    cl11960
    Location:39134
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    111542118..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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