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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. [provi... See more...
Aliases for CD96 Gene
Aliases for CD96 Gene
External Ids for CD96 Gene
- HGNC: 16892
- Entrez Gene: 10225
- Ensembl: ENSG00000153283
- OMIM: 606037
- UniProtKB: P40200
Previous GeneCards Identifiers for CD96 Gene
- GC00U906250
- GC03P112542
- GC03P112581
- GC03P112743
- GC03P111260
- GC03P108635
- GC03P111012
Summaries 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 C Syndrome and Leukemia, Acute Myeloid. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Class I MHC mediated antigen processing and presentation.
UniProtKB/Swiss-Prot Summary 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
- Monarch Initiative
- Search for CD96 at DataMed
- Search for CD96 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD96 Gene
Genomics for CD96 Gene
GeneHancer (GH) Regulatory Elements for CD96 Gene
Promoters and enhancers for CD96 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CD96 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CD96 gene promoter:
-
- CREB
- deltaCREB
- SRF
- SRF (504 AA)
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)
- Size:
- 373,032 bases
- Orientation:
- Plus strand
Genomic View for CD96 Gene
Genes around CD96 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3q13.13-q13.2 by HGNC
- 3q13.13-q13.2 by Entrez Gene
- 3q13.13 by Ensembl
CD96 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- Q5JPB3
Protein attributes for CD96 Gene
- Size:
- 585 amino acids
- Molecular mass:
- 65634 Da
- Quaternary structure:
-
- Homodimer; disulfide-linked. Interacts with PVR.
Protein Expression for CD96 Gene
Post-translational modifications for CD96 Gene
Other Protein References for CD96 Gene
Antibody Products
- Atlas Antibodies Anti-CD96 Antibody
-
Creative Biolabs
- Recombinant Mouse Anti-Human CD96 Antibody
- Recombinant Anti-Human CD96 Antibody Fab Fragment
- Recombinant Anti-human CD96 Antibody
- Recombinant Mouse anti-Human CD96 Monoclonal antibody (EML1037)
- Mouse Anti-CD96 Recombinant Antibody (CBYY-C1657)
- Mouse Anti-CD96 (AA 1-402) Recombinant Antibody (CBFYC-1501)
- Mouse Anti-CD96 Recombinant Antibody (CBXC-1268)
- Mouse Anti-CD96 Recombinant Antibody (CBXC-1267)
- Mouse Anti-CD96 Recombinant Antibody (3H8)
- Recombinant Mouse Anti-CD96 Antibody (NK92.39)
- Mouse Anti-CD96 Recombinant Antibody (1C8)
- Mouse Anti-CD96 Recombinant Antibody (CBYY-C1658)
- Mouse Anti-CD96 Recombinant Antibody (628211)
-
BioLegend
- CD96 (TACTILE) Antibody (338406)
- CD96 (TACTILE) Antibody (338402)
- CD96 (TACTILE) Antibody (338405)
- CD96 (TACTILE) Antibody (338414)
- PerCP/Cyanine5.5 CD96 (TACTILE) Antibody (338412)
- CD96 (TACTILE) Antibody (338413)
- CD96 (TACTILE) Antibody (338409)
- CD96 (TACTILE) Antibody (338410)
- PerCP/Cyanine5.5 CD96 (TACTILE) Antibody (338411)
- CD96 (TACTILE) Antibody (338417)
- CD96 (TACTILE) Antibody (338415)
- CD96 (TACTILE) Antibody (338418)
- CD96 (TACTILE) Antibody (338416)
- TotalSeq(TM)-A0175 CD96 (TACTILE) Antibody
-
Custom Antibody ServicesOriGene Antibodies for CD96
- Novus Biologicals Antibodies for CD96
-
Abcam antibodies for CD96
- Invitrogen Antibodies for CD96 (AFLGC-CD96)
-
Biorbyt antibodies for CD96
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD96
- Sino Biological Antibodies for CD96
Protein Products
-
OriGene Purified Proteins for CD96
- Search Origene for MassSpec and Protein Over-expression Lysates for CD96
- Origene Custom Protein Services for CD96
- Sino Biological Recombinant Proteins for CD96
- Sino Biological Cell Lysates for CD96
- ProSpec Recombinant Proteins for CD96
-
Abcam proteins for CD96
Assay Products
- Creative Diagnostics Human CD96 ELISA Matched Antibody Pair
- antibodies-online: Show 6 available CD96 Elisa Kits ranked by validation data
- Compare Top CD96 Elisa Kits
-
Quality Products:
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CD96 Gene
- GenScript: Design optimal peptide antigens:
-
- T cell-activated increased late expression protein (TACT_HUMAN)
No data available for Graphical View of Domain Structure and 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
Phenotypes for CD96 Gene
- MGI mutant phenotypes for CD96:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CD96:
-
- Increased HPV18 LCR reporter activity
- Decreased HPV16-GFP infection
- Increased shRNA abundance (Z-score > 2)
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Synthetic lethal with Ras
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased IL-8 secretion
Animal Models for CD96 Gene
- MGI Knock Outs for CD96:
-
- Cd96 Cd96<tm1.1Mjs>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
-
OriGene CRISPR knockouts for CD96
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD96
- genomics-online: gRNA clones - Search results for available CD96 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CD96 - Select products 50% OFF >
- * CD96 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CD96 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD96
miRNA for CD96 Gene
- miRTarBase miRNAs that target CD96
-
- hsa-mir-335-5p (MIRT019019)
- hsa-mir-6848-3p (MIRT680055)
- hsa-mir-6843-3p (MIRT680056)
- hsa-mir-640 (MIRT680057)
- hsa-mir-378a-5p (MIRT680058)
- hsa-mir-6778-3p (MIRT680059)
- hsa-mir-6821-3p (MIRT680060)
- hsa-mir-6790-3p (MIRT680061)
- hsa-mir-1976 (MIRT680062)
- hsa-mir-3653-5p (MIRT680063)
- hsa-mir-150-5p (MIRT680064)
- hsa-mir-7107-5p (MIRT680065)
- hsa-mir-1234-3p (MIRT680066)
- hsa-mir-1224-3p (MIRT680067)
- hsa-mir-186-3p (MIRT680068)
- hsa-mir-6807-5p (MIRT682962)
- hsa-mir-4252 (MIRT682963)
- hsa-mir-1273g-3p (MIRT682964)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CD96
- Browse OriGene Inhibitory RNA Products For CD96
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD96
- genomics-online: shRNA clones - Search results for available CD96 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CD96
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD96
- genomics-online: cdna clones - Search results for available CD96 gene related products
- orf clones - Search results for available CD96 gene related products
- Applied Biological Materials (abm): Clones for CD96 - Select products 50% OFF >
- * CD96 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CD96 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for CD96
No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| endoplasmic reticulum | 0 |
| golgi apparatus | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD96 Gene
Pathways & Interactions for CD96 Gene
Pathways by source for CD96 Gene
3 Reactome pathways for CD96 Gene
1 R&D Systems pathway for CD96 Gene
Interacting Proteins for CD96 Gene
GPS-Prot Interaction Network for CD96
| 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 |
No data available for SIGNOR curated interactions for CD96 Gene
Transcripts for CD96 Gene
mRNA/cDNA for CD96 Gene
- (3) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (47) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000460744 546 bps (ENST00000460744.1)
- ENST00000352690 4516 bps (ENST00000352690.8)
- ENST00000283285 4324 bps (ENST00000283285.9)
- ENST00000438817 1565 bps (ENST00000438817.6)
- ENST00000488054 573 bps (ENST00000488054.1)
CRISPR Products
-
OriGene CRISPR knockouts for CD96
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD96
- genomics-online: gRNA clones - Search results for available CD96 gene related products
- Applied Biological Materials (abm): CRISPR Clones for CD96 - Select products 50% OFF >
- * CD96 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * CD96 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD96
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CD96
- Browse OriGene Inhibitory RNA Products For CD96
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD96
- genomics-online: shRNA clones - Search results for available CD96 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CD96
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD96
- genomics-online: cdna clones - Search results for available CD96 gene related products
- orf clones - Search results for available CD96 gene related products
- Applied Biological Materials (abm): Clones for CD96 - Select products 50% OFF >
- * CD96 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * CD96 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||||
| SP2: |
Expression for CD96 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Adipose (Muscoskeletal System)
-
Brain (Nervous System)
-
Spinal Cord (Nervous System)
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).
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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CD96 Gene:
CD96SOURCE GeneReport for Unigene cluster for CD96 Gene:
Hs.142023mRNA 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
Primer Products
-
OriGene qPCR primer pairs for CD96
-
OriGene qPCR primer pairs and template standards for CD96
- genomics-online: primer clones - Search results for available CD96 gene related products
Gene Expression Assay Products
Orthologs for CD96 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CD96 33 32 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CD96 33 32 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CD96 33 32 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cd96 32 |
|
||
| mouse (Mus musculus) |
Mammalia | Cd96 17 33 32 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CD96 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CD96 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CD96 33 |
|
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
No data available for Paralogs for CD96 Gene
Variants for CD96 Gene
| SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 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 | |
| rs140955483 | likely-benign, C syndrome | 111,638,142(+) | C/T | coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD96 Gene
Disorders for CD96 Gene
(2) MalaCards diseases for CD96 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| c syndrome |
|
|
| leukemia, acute myeloid |
|
|
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
No data available for Genatlas for CD96 Gene
Publications for CD96 Gene
- 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 23 43 56
- 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 23 56
- 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 56
- 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 23 56
- 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 23 56
ExternalLinks
Products for CD96 Gene
- Custom Antibody ServicesOriGene Antibodies for CD96
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CD96
- Search Origene for MassSpec and Protein Over-expression Lysates for CD96
- Origene Custom Protein Services for CD96
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CD96
- Browse OriGene Inhibitory RNA Products For CD96
- OriGene qPCR primer pairs for CD96
- OriGene qPCR primer pairs and template standards for CD96
- OriGene CRISPR knockouts for CD96
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CD96
- Sino Biological Human cDNA Clone for CD96
- Sino Biological Recombinant Proteins for CD96
- Sino Biological Cell Lysates for CD96
- Sino Biological Antibodies for CD96
- Browse Sino Biological Assays
- Browse Recombinant Proteins
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
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- Novus Biologicals Antibodies for CD96
- Novus Biologicals proteins and lysates for CD96
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- antibodies-online: Show 12 available CD96 Antibodies ranked by validation data
- Compare Top CD96 Antibodies
- antibodies-online: Show 6 available CD96 Elisa Kits ranked by validation data
- Compare Top CD96 Elisa Kits
- Quality Products:
- antibodies-online: Show 20 available CD96 Proteins ranked by validation data
- Compare Top CD96 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for CD96
- Search Santa Cruz Biotechnology (SCBT) for CD96 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CD96
- Horizon Cell Lines for CD96
- genomics-online: cdna clones - Search results for available CD96 gene related products
- orf clones - Search results for available CD96 gene related products
- genomics-online: gRNA clones - Search results for available CD96 gene related products
- genomics-online: primer clones - Search results for available CD96 gene related products
- genomics-online: shRNA clones - Search results for available CD96 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD96
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD96
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CD96
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD96
- Biorbyt antibodies for CD96
Sources for CD96 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) CGAP SAGE
- (31) SOURCE
- (32) HomoloGene
- (33) PanEnsembl
- (34) euGenes
- (35) SGD
- (36) FlyBase
- (37) WormBase
- (38) Pseudogene
- (39) DGV
- (40) dbSNP
- (41) GenAtlas
- (42) HGMD
- (43) GAD
- (44) BGMUT
- (45) HuGE
- (46) Atlas
- (47) GenBank
- (48) H-invDB
- (49) HORDE
- (50) HUGE
- (51) IMGT
- (52) Leiden
- (53) miRBase
- (54) DME
- (55) OriGene
- (56) PubMed
- (57) R&D Systems
- (58) TGDB
- (59) Tocris
- (60) Abcam
- (61) Novus Biologicals
- (62) ProSpec
- (63) Sino Biological
- (64) GenScript
- (65) Qiagen
- (66) OCA
- (67) Proteopedia
- (68) MOPED
- (69) neXtProt
- (70) Reactome
- (71) GeneGo (Thomson Reuters)
- (72) DISEASES
- (73) SIMAP
- (74) GenomeRNAi
- (75) LifeMap
- (76) miRTarBase
- (77) MalaCards
- (78) Invitrogen
- (79) BitterDB
- (80) ESI-BIO
- (81) RefSeq
- (82) BioSystems
- (83) MaxQB
- (84) IUPHAR
- (85) BioGPS
- (86) Illumina
- (87) COMPARTMENTS
- (88) HOMER
- (89) PaxDb
- (90) ApexBio
- (91) Addgene
- (92) antibodies-online
- (93) CYP
- (94) NONCODE
- (95) TreeFam
- (96) PathCards
- (97) GeneReviews
- (98) GeneTex
- (99) Taconic Biosciences
- (100) GTEx
- (101) ProteomicsDB
- (102) SCBT
- (103) DGIdb
- (104) ClinicalTrials
- (105) RVIS
- (106) SIGNOR
- (107) diseasecard
- (108) NIH Rare Diseases
- (109) Orphanet
- (110) UMLS
- (111) GTR
- (112) Disease Ontology
- (113) Genetics Home Reference
- (114) MeSH
- (115) MedlinePlus
- (116) CDC
- (117) NINDS
- (118) NCBI Bookshelf
- (119) ClinVar
- (120) Gene Damage Index
- (121) HPO
- (122) UDN
- (123) VISTA
- (124) FANTOM5
- (125) ENCODE
- (126) ProSci
- (127) Horizon
- (128) NURSA
- (129) IID
- (130) VectorBuilder
- (131) SNPedia
- (132) BRCA Exchange
- (133) CIViC
- (134) ProteoGenix
- (135) dbSUPER
- (136) TISSUES
- (137) Gene ORGANizer
- (138) abm
- (139) Human Protein Atlas
- (140) GWAS Catalog
- (141) Monarch Initiative
- (142) DataMed
- (143) HumanCyc
- (144) genomics-online
- (145) UCNEbase
- (146) EPDnew
- (147) Applied Biosystems
- (148) GlyConnect
- (149) Aminode
- (150) GeneCopoeia
- (151) GPS-Prot
- (152) RNACentral
- (153) LncRNADisease
- (154) LOVD
- (155) miR2Disease
- (156) DiseaseEnhancer
- (157) Boster Bio
- (158) Biorbyt
- (159) Biocompare
- (160) Mastermind
- (161) CTD^2 Dashboard
- (162) CraniofacialAtlas
- (163) GeneImprint
- (164) Synthego
- (165) Bio Basic
- (166) ENA
- (167) GtRNAdb
- (168) LncBase
- (169) LncBook
- (170) LNCipedia
- (171) LncRNAdb
- (172) Modomics
- (173) PDBe
- (174) Rfam
- (175) SILVA
- (176) snOPY
- (177) SRPDB
- (178) GENCODE
- (179) TarBase
- (180) MyBioSource