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Aliases for CD96 Gene

Aliases for CD96 Gene

  • CD96 Molecule 2 3 5
  • T Cell-Activated Increased Late Expression Protein 3 4
  • Cell Surface Antigen CD96 3 4
  • CD96 Antigen 2 4
  • T Cell Activation, Increased Late Expression 3
  • T-Cell Surface Protein Tactile 3
  • TACTILE 3

External Ids for CD96 Gene

Previous GeneCards Identifiers for CD96 Gene

  • GC00U906250
  • GC03P112542
  • GC03P112581
  • GC03P112743
  • GC03P111260
  • GC03P108635
  • GC03P111012

Summaries for CD96 Gene

Entrez Gene Summary for CD96 Gene

  • 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]

GeneCards Summary for CD96 Gene

CD96 (CD96 Molecule) is a Protein Coding gene. Diseases associated with CD96 include Cat Eye Syndrome and Valproate Embryopathy. Among its related pathways are Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell.

UniProtKB/Swiss-Prot for CD96 Gene

  • 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 penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation.

Additional gene information for CD96 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD96 Gene

Genomics for CD96 Gene

GeneHancer (GH) Regulatory Elements for CD96 Gene

Promoters and enhancers for CD96 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J111541 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 650.1 +253.2 253157 9 PKNOX1 EBF1 BMI1 BATF ATF7 IKZF2 RUNX3 ZNF639 CBFA2T3 JUNB CD96 ZBED2 PLCXD2 GC03M111365 ENSG00000239311
GH03J111607 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 18.9 +317.0 316981 3.8 DPF2 ATF2 JUND TARDBP IKZF1 ATF7 ETV6 RUNX3 IKZF2 SPI1 CD96 PLCXD2 ZBED2 LOC100420394
GH03J111615 Enhancer 1 FANTOM5 ENCODE dbSUPER 12.1 +324.1 324065 2.3 CTCF SRF ZNF680 SPI1 CD96 PLCXD2 LOC100420394 ZBED2
GH03J111577 Enhancer 0.8 ENCODE dbSUPER 10.8 +285.3 285270 0.2 CTCF ZNF654 FOXA2 FOXA3 TRIM22 RAD21 FOXA1 SMC3 FOSL2 CD96 PLCXD2 ENSG00000240787 ZBED2
GH03J112002 Enhancer 0.5 ENCODE 5.6 +709.9 709936 1.2 ZFHX2 JUND EGR1 HLF FOS EGR2 ABHD10 CD96 TAGLN3 RFKP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CD96 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD96 gene promoter:

Genomic Locations for CD96 Gene

Genomic Locations for CD96 Gene
chr3:111,292,719-111,665,996
(GRCh38/hg38)
Size:
373,278 bases
Orientation:
Plus strand
chr3:111,011,566-111,384,597
(GRCh37/hg19)

Genomic View for CD96 Gene

Genes around CD96 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD96 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD96 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD96 Gene

Proteins for CD96 Gene

  • Protein details for CD96 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P40200-TACT_HUMAN
    Recommended name:
    T-cell surface protein tactile
    Protein Accession:
    P40200
    Secondary Accessions:
    • Q5JPB3

    Protein attributes for CD96 Gene

    Size:
    585 amino acids
    Molecular mass:
    65634 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with PVR.

    Alternative splice isoforms for CD96 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD96 Gene

Post-translational modifications for CD96 Gene

  • Glycosylation at posLast=497497, posLast=435435, Asn368, posLast=350350, posLast=300300, posLast=278278, posLast=277277, posLast=215215, Asn200, posLast=166166, Asn156, Asn148, posLast=107107, Asn97, and Asn42
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CD96 Gene

Domains & Families for CD96 Gene

Gene Families for CD96 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CD96 Gene

Suggested Antigen Peptide Sequences for CD96 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CD96: view

No data available for UniProtKB/Swiss-Prot for CD96 Gene

Function for CD96 Gene

Molecular function for CD96 Gene

UniProtKB/Swiss-Prot 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 penetrated the endothelium using integrins and selectins, when they are actively engaging diseased cells and moving within areas of inflammation.

Phenotypes From GWAS Catalog for CD96 Gene

genes like me logo Genes that share phenotypes with CD96: view

Human Phenotype Ontology for CD96 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD96

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for CD96 Gene

Localization for CD96 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD96 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD96 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CD96 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 17847009
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1313846
GO:0005912 adherens junction IDA 17847009
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with CD96: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD96 Gene

Pathways & Interactions for CD96 Gene

genes like me logo Genes that share pathways with CD96: view

Interacting Proteins for CD96 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000283285%0d%0a9606.ENSP00000386738%0d%0a9606.ENSP00000364403%0d%0a9606.ENSP00000265593%0d%0a9606.ENSP00000339867%0d%0a9606.ENSP00000216341%0d%0a
Selected Interacting proteins: P40200-TACT_HUMAN ENSP00000283285 for CD96 Gene via IID STRING

Symbol External ID(s) Details
HLA-B
HLA-A
HLA-DRB1
ADGRV1
AZU1

Gene Ontology (GO) - Biological Process for CD96 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002534 cytokine production involved in inflammatory response IEA --
GO:0002728 negative regulation of natural killer cell cytokine production IEA --
GO:0006955 immune response TAS 1313846
GO:0007155 cell adhesion TAS 1313846
GO:0007160 cell-matrix adhesion IDA 17847009
genes like me logo Genes that share ontologies with CD96: view

No data available for SIGNOR curated interactions for CD96 Gene

Drugs & Compounds for CD96 Gene

(1) Drugs for CD96 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CD96: view

Transcripts for CD96 Gene

Unigene Clusters for CD96 Gene

CD96 molecule:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD96

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD96 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
SP1: -
SP2:

Relevant External Links for CD96 Gene

GeneLoc Exon Structure for
CD96
ECgene alternative splicing isoforms for
CD96

Expression for CD96 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CD96 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD96 Gene

This gene is overexpressed in Whole Blood (x19.6), Spleen (x5.2), and Small Intestine - Terminal Ileum (x4.0).

Protein differential expression in normal tissues from HIPED for CD96 Gene

This gene is overexpressed in Monocytes (32.0), Heart (17.3), CD8 Tcells (11.9), and Platelet (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD96 Gene



Protein tissue co-expression partners for CD96 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD96 Gene:

CD96

SOURCE GeneReport for Unigene cluster for CD96 Gene:

Hs.142023

mRNA Expression by UniProt/SwissProt for CD96 Gene:

P40200-TACT_HUMAN
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.

Evidence on tissue expression from TISSUES for CD96 Gene

  • Lymph node(4.3)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CD96 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
Thorax:
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
  • liver
  • small intestine
Pelvis:
  • pelvis
  • penis
  • testicle
  • urethra
  • urinary bladder
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CD96: view

Orthologs for CD96 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD96 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD96 34 33
  • 98.89 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CD96 34 33
  • 82.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CD96 34 33
  • 81.36 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd96 33
  • 76.18 (n)
mouse
(Mus musculus)
Mammalia Cd96 16 34 33
  • 76.06 (n)
oppossum
(Monodelphis domestica)
Mammalia CD96 34
  • 47 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CD96 34
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CD96 34
  • 33 (a)
OneToOne
Species where no ortholog for CD96 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD96 Gene

ENSEMBL:
Gene Tree for CD96 (if available)
TreeFam:
Gene Tree for CD96 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CD96: view image

Paralogs for CD96 Gene

(1) SIMAP similar genes for CD96 Gene using alignment to 7 proteins:

  • TACT_HUMAN
  • E9PEJ1_HUMAN
  • F8WDV3_HUMAN
  • H7C4F0_HUMAN
  • L8EAH0_HUMAN
  • Q8WUE2_HUMAN
  • U3KPT0_HUMAN
genes like me logo Genes that share paralogs with CD96: view

No data available for Paralogs for CD96 Gene

Variants for CD96 Gene

Sequence variations from dbSNP and Humsavar for CD96 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1035382001 uncertain-significance, C syndrome 111,623,817(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs116117825 likely-benign, C syndrome 111,649,931(+) G/A/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs119477056 pathogenic, C syndrome, C syndrome (CSYN) [MIM:211750] 111,585,362(+) C/A/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs138396447 likely-benign, C syndrome 111,606,778(+) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs139540088 likely-benign, C syndrome 111,585,363(+) G/A/T coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for CD96 Gene

Variant ID Type Subtype PubMed ID
dgv2577n106 OTHER inversion 24896259
esv3305667 CNV mobile element insertion 20981092
esv3366991 CNV duplication 20981092
esv3374376 CNV insertion 20981092
esv3392024 CNV insertion 20981092
nsv1124873 CNV duplication 24896259
nsv3946 CNV deletion 18451855
nsv433354 CNV loss 18776910
nsv460821 CNV gain 19166990
nsv591275 CNV gain 21841781
nsv965196 CNV duplication 23825009
nsv997756 CNV gain 25217958

Variation tolerance for CD96 Gene

Residual Variation Intolerance Score: 37.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.82; 47.78% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CD96 Gene

Human Gene Mutation Database (HGMD)
CD96
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD96

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD96 Gene

Disorders for CD96 Gene

MalaCards: The human disease database

(7) MalaCards diseases for CD96 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, and DISEASES

Disorder Aliases PubMed IDs
cat eye syndrome
  • ces
valproate embryopathy
  • valproate embryopathy, susceptibility to
marshall-smith syndrome
  • mrshss
second-degree atrioventricular block
  • second-degree heart block
carpenter syndrome 1
  • crpt1
- elite association - COSMIC cancer census association via MalaCards
Search CD96 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TACT_HUMAN
  • C syndrome (CSYN) [MIM:211750]: A syndrome characterized by trigonocephaly, severe mental retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features, including upslanted palpebral fissures, epicanthal folds, depressed nasal bridge, and low-set, posteriorly rotated ears. {ECO:0000269 PubMed:17847009}. Note=The disease is caused by mutations affecting the gene represented in this entry. A chromosomal aberration involving CD96 has been found in a patient with C syndrome. Translocation t(3;18)(q13.13;q12.1). CD96 gene was located at the 3q13.13 breakpoint. Precise structural analysis around the breakpoint showed that the gene was disrupted by the translocation in exon 5, probably leading to premature termination or loss of expression of CD96 protein. No gene was detected at the chromosome 18 breakpoint.

Additional Disease Information for CD96

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CD96: view

No data available for Genatlas for CD96 Gene

Publications for CD96 Gene

  1. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. (PMID: 17847009) Kaname T … Naritomi K (American journal of human genetics 2007) 3 4 22 44 58
  2. Cutting edge: CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155). (PMID: 15034010) Fuchs A … Colonna M (Journal of immunology (Baltimore, Md. : 1950) 2004) 3 4 22 58
  3. Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily. (PMID: 1313846) Wang PL … Krensky AM (Journal of immunology (Baltimore, Md. : 1950) 1992) 2 3 4 58
  4. CD96 interaction with CD155 via its first Ig-like domain is modulated by alternative splicing or mutations in distal Ig-like domains. (PMID: 19056733) Meyer D … Bernhardt G (The Journal of biological chemistry 2009) 3 22 58
  5. Antibodies TC-12 ("unique") and TH-111 (CD96) characterize T-cell acute lymphoblastic leukemia and a subgroup of acute myeloid leukemia. (PMID: 9845376) Gramatzki M … Moldenhauer G (Experimental hematology 1998) 3 22 58

Products for CD96 Gene

Sources for CD96 Gene

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