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CD96 Gene

protein-coding   GIFtS: 59
GCID: GC03P111012

CD96 Molecule

(Previous name: CD96 antigen)
  See CD96-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
CD96 Molecule1 2     TACTILE2 5
CD96 Antigen1 2 3     T Cell Activation, Increased Late Expression2
Cell Surface Antigen CD962 3     T-Cell Surface Protein Tactile2
T Cell-Activated Increased Late Expression Protein2 3     

External Ids:    HGNC: 168921   Entrez Gene: 102252   Ensembl: ENSG000001532837   OMIM: 6060375   UniProtKB: P402003   
ORGUL members:         

Export aliases for CD96 gene to outside databases

Previous GC identifers: GC00U906250 GC03P112542 GC03P112581 GC03P112743 GC03P111260 GC03P108635


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 occurs at this locus and two
transcript variants encoding distinct isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for CD96 Gene:
CD96 (CD96 molecule) is a protein-coding gene. Diseases associated with CD96 include cat eye syndrome.

UniProtKB/Swiss-Prot: TACT_HUMAN, P40200
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CD96 gene promoter:
         SRF   CREB   SRF (504 AA)   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCD96 promoter sequence
   Search Chromatin IP Primers for CD96

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CD96


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q13.13-q13.2   Ensembl cytogenetic band:  3q13.13   HGNC cytogenetic band: 3p13-q13.2

CD96 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD96 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P111012:  view genomic region     (about GC identifiers)

Start:
111,011,566 bp from pter      End:
111,384,597 bp from pter
Size:
373,032 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TACT_HUMAN, P40200 (See protein sequence)
Recommended Name: T-cell surface protein tactile precursor  
Size: 585 amino acids; 65634 Da
Subunit: Homodimer; disulfide-linked. Interacts with PVR
Developmental stage: Expressed at low levels on peripheral T-cells and is strongly up-regulated after activation,
peaking 6 to 9 days after the activating stimulus
Secondary accessions: Q5JPB3
Alternative splicing: 2 isoforms:  P40200-1   P40200-2   

Explore the universe of human proteins at neXtProt for CD96: NX_P40200

Explore proteomics data for CD96 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn42, Asn97, Asn107, Asn148, Asn156, Asn166, Asn200, Asn215, Asn277, Asn278,
                                 Asn300, Asn350, Asn368, Asn435, Asn497
  • Modification sites at PhosphoSitePlus

  • See CD96 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005807.1  NP_937839.1  

    ENSEMBL proteins: 
     ENSP00000475194   ENSP00000342040   ENSP00000283285   ENSP00000389801   ENSP00000417680  
     ENSP00000417152   ENSP00000417150  
    Reactome Protein details: P40200

    CD96 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for CD96
    Sino Biological Cell Lysate for CD96
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for CD96 

    CD96 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for CD96

    CD96 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for CD96 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CD: CD molecules
    IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

    3 InterPro protein domains:
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub

    Graphical View of Domain Structure for InterPro Entry P40200

    ProtoNet protein and cluster: P40200

    1 Blocks protein domain: IPB003599 Immunoglobulin subtype

    UniProtKB/Swiss-Prot: TACT_HUMAN, P40200
    Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain
    Similarity: Contains 2 Ig-like V-type (immunoglobulin-like) domains


    Find genes that share domains with CD96           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TACT_HUMAN, P40200
    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

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with CD96           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for CD96:
     Increased HPV18 LCR reporter a  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CD96
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for CD96

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CD96
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CD96

    miRNA
    Products:
        
    miRTarBase miRNAs that target CD96:
    hsa-mir-335-5p (MIRT019019)

    Block miRNA regulation of human, mouse, rat CD96 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD96 (see all 12):
    hsa-miR-409-3p hsa-miR-1271 hsa-miR-3647-3p hsa-miR-664 hsa-miR-33a hsa-miR-182 hsa-miR-29a* hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidCD96 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CD96
    Predesigned siRNA for gene silencing in human, mouse, rat CD96

    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): CD96 (NM_005816)
    Sino Biological Human cDNA Clone for CD96
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD96
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD96

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for CD96 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD96


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TACT_HUMAN, P40200: Membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    peroxisome2
    cytosol1
    endoplasmic reticulum1
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS1313846

    Find genes that share ontologies with CD96           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CD96 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41
    2Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


    Find genes that share SuperPaths with CD96           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CD96
        Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell


        Pathway & Disease-focused RT2 Profiler PCR Array including CD96: 
              Cell Surface Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CD96

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for CD96 (P402003 ENSP000002832854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PVRP151513, ENSP000004020604I2D: score=1 STRING: ENSP00000402060
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response TAS1313846
    GO:0007155cell adhesion IEA--
    GO:0050776regulation of immune response TAS--

    Find genes that share ontologies with CD96           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CD96 (TACT)

    1 Novoseek inferred chemical compound relationship for CD96 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 3.55 1 1701034 (1)



    Find genes that share compounds with CD96           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CD96 gene (2 alternative transcripts): 
    NM_005816.4  NM_198196.2  

    Unigene Cluster for CD96:

    CD96 molecule
    Hs.142023  [show with all ESTs]
    Unigene Representative Sequence: NM_198196
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460744 ENST00000352690(uc003dxx.3) ENST00000283285(uc003dxw.3)
    ENST00000438817(uc003dxv.3) ENST00000488054 ENST00000494798(uc010hpy.1)
    ENST00000465428
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CD96 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CD96 (see all 12):
    hsa-miR-409-3p hsa-miR-1271 hsa-miR-3647-3p hsa-miR-664 hsa-miR-33a hsa-miR-182 hsa-miR-29a* hsa-miR-3919
    SwitchGear 3'UTR luciferase reporter plasmidCD96 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CD96
    Clone
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    OriGene ORF clones in mouse, rat for CD96
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CD96 (NM_005816)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD96
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD96
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CD96
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CD96
      QuantiTect SYBR Green Assays in human, mouse, rat CD96
      QuantiFast Probe-based Assays in human, mouse, rat CD96

    Additional mRNA sequence: 

    AK290719.1 AK315237.1 AL833681.1 BC020749.1 

    7 DOTS entries:

    DT.95305568  DT.100751999  DT.100751998  DT.86859118  DT.92418273  DT.92418274  DT.95086934 

    Selected AceView cDNA sequences (see all 47):

    CD245004 NM_198196 BX415809 NM_005816 AL833681 AA478280 AW512609 BC020749 
    BU188513 AW292416 BI767649 CD520235 CD691315 BC027914 BM917289 BM998935 
    CF137690 AW770161 BE502619 AI287440 AW770162 BM561433 AI652836 CD695421 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CD96    About this scheme

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


    ECgene alternative splicing isoforms for CD96

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CD96 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTACAGCCA
    CD96 Expression
    About this image


    CD96 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Adipose (Muscoskeletal System)
             White adipocyte-like cells
     
     Spinal Cord (Nervous System)
     
     Brain (Nervous System)
    CD96 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CD96 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.142023

    UniProtKB/Swiss-Prot: TACT_HUMAN, P40200
    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

        Pathway & Disease-focused RT2 Profiler PCR Array including CD96: 
              Cell Surface Markers in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD96

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CD96 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cd961 , 5 CD96 antigen1, 5 76.06(n)1
    61.88(a)1
      16 (30.45 cM)5
    845441  NM_032465.21  NP_115854.21 
     460356575 
    lizard
    (Anolis carolinensis)
    Reptilia CD966
    CD96 molecule
    33(a)
    1 ↔ 1
    3(167987442-168043639)


    ENSEMBL Gene Tree for CD96 (if available)
    TreeFam Gene Tree for CD96 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CD96 gene
    1 SIMAP similar gene for CD96 using alignment to 7 protein entries:     TACT_HUMAN (see all proteins):
    PVRL3

    Find genes that share paralogs with CD96           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CD96 (see all 2180)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0375784
    C syndrome (CSYN)4--see VAR_0375782 T M mis40--------
    rs1194770561,2
    Cpathogenic1111273061(+) CTCCAA/C/TGGATG 4 T M mis10--------
    rs1401372371,2
    Cuntested1111232837(+) TTCTTC/TGTGCA 4 F syn10--------
    rs1493532431,2
    --108641345(+) TTTTTA/TGTACA 2 -- int10--------
    rs1382568431,2
    C--108647079(+) GCCTG-/AA    
       T
    /ATA
    ATGTT
    4 -- cds10--------
    rs1901437631,2
    --108650139(+) TTTTTA/TATTAT 2 -- int10--------
    rs113112231,2
    C--108658327(+) TTTTTA/-AAAAT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs1126867681,2
    C--108674318(+) AATTAA/TTTATT 2 -- int10--------
    rs106907111,2
    C--108691899(+) CTTAT-/GTTAT 
            
    ATGAA
    2 -- int10--------
    rs738528411,2
    C,F--108711539(+) CTCCTG/CTCCAC 2 -- int11Minor allele frequency- C:0.50WA 2

    HapMap Linkage Disequilibrium report for CD96 (111011566 - 111261566 bp, first 250kb of CD96)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CD96:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv269944CNV Insertion20981092
    nsv3946CNV Loss18451855
    nsv433354CNV Loss18776910
    nsv460821CNV Gain19166990

    Human Gene Mutation Database (HGMD): CD96
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CD96
    DNA2.0 Custom Variant and Variant Library Synthesis for CD96

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606037   
    OMIM disorders: 211750  
    UniProtKB/Swiss-Prot: TACT_HUMAN, P40200
  • 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. 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

  • 1 disease for CD96:    
    About MalaCards
    cat eye syndrome


    Find genes that share disorders with CD96           About GenesLikeMe

    Genetic Association Database (GAD): CD96
    Human Genome Epidemiology (HuGE) Navigator: CD96 (3 documents)

    Export disorders for CD96 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CD96 gene, integrated from 10 sources (see all 27):
    (articles sorted by number of sources associating them with CD96)
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    1. Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. (PubMed id 17847009)1, 2, 4, 9 Kaname T....Naritomi K. (Am. J. Hum. Genet. 2007)
    2. Identification and molecular cloning of tactile. A novel human T cell activation antigen that is a member of the Ig gene superfamily. (PubMed id 1313846)1, 2, 3 Wang P.L.... Krensky A.M. (J. Immunol. 1992)
    3. CD96 (tactile) promotes NK cell-target cell adhesion by interacting with the poliovirus receptor (CD155). (PubMed id 15034010)1, 2, 9 Fuchs A.... Colonna M. (J. Immunol. 2004)
    4. CD96 interaction with CD155 via its first Ig-like domain is modulated by alternative splicing or mutations in distal Ig-like domains. (PubMed id 19056733)1, 9 Meyer D....Bernhardt G. (J. Biol. Chem. 2009)
    5. Antibodies TC-12 (&quot;unique&quot;) and TH-111 (CD96) characterize T-cell acute lymphoblastic leukemia and a subgroup of acute myeloid leukemia. (PubMed id 9845376)1, 9 Gramatzki M....Moldenhauer G. (Exp. Hematol. 1998)
    6. Enhanced ADCC activity of affinity maturated and Fc-engineered mini-antibodies directed against the AML stem cell antigen CD96. (PubMed id 22879978)1 Mohseni Nodehi S....Humpe A. (PLoS ONE 2012)
    7. Differential expression of CD96 surface molecule represents CD8a8_ T cells with dissimilar effector function during HIV-1 infection. (PubMed id 23272144)1 Eriksson E.M....Nixon D.F. (PLoS ONE 2012)
    8. [CD96 expression on bone marrow mononuclear cells in 91 patients with acute leukemia]. (PubMed id 21729528)1 Wu Y....Deng J.N. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2011)
    9. Genome-wide association study of smoking behaviours in patients with COPD. (PubMed id 21685187)1 Siedlinski M.... . (Thorax 2011)
    10. New genetic associations detected in a host response study to hepatitis B vaccine. (PubMed id 20237496)1 Davila S....Seielstad M. (Genes Immun. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10225 HGNC: 16892 AceView: CD96 Ensembl:ENSG00000153283 euGenes: HUgn10225
    ECgene: CD96 H-InvDB: CD96

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CD96 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CD96 gene:
    Search GeneIP for patents involving CD96

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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