Aliases for CD247 Gene
Aliases for CD247 Gene
External Ids for CD247 Gene
- HGNC: 1677
- Entrez Gene: 919
- Ensembl: ENSG00000198821
- OMIM: 186780
- UniProtKB: P20963
Previous HGNC Symbols for CD247 Gene
- CD3Z
Previous GeneCards Identifiers for CD247 Gene
- GC01M165666
- GC01M138645
Summaries for CD247 Gene
-
The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
GeneCards Summary for CD247 Gene
CD247 (CD247 Molecule) is a Protein Coding gene. Diseases associated with CD247 include Immunodeficiency 25 and T-B+ Severe Combined Immunodeficiency Due To Cd3delta/Cd3epsilon/Cd3zeta. Among its related pathways are T cell receptor signaling pathway and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity.
UniProtKB/Swiss-Prot for CD247 Gene
-
Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity).
Additional gene information for CD247 Gene
- Monarch Initiative
- Search for CD247 at DataMed
- Search for CD247 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD247 Gene
Genomics for CD247 Gene
GeneHancer (GH) Regulatory Elements for CD247 Gene
Promoters and enhancers for CD247 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 CD247 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CD247 gene promoter:
-
- STAT5A
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
Regulatory Element Products
Genomic Locations for CD247 Gene
Genomic Locations for CD247 Gene
- chr1:167,430,640-167,518,616
- (GRCh38/hg38)
- Size:
- 87,977 bases
- Orientation:
- Minus strand
- chr1:167,399,877-167,487,847
- (GRCh37/hg19)
- Size:
- 87,971 bases
- Orientation:
- Minus strand
Genomic View for CD247 Gene
Genes around CD247 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1q24.2 by Entrez Gene
- 1q24.2 by HGNC
- 1q24.2 by Ensembl
CD247 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 CD247 Gene
Proteins for CD247 Gene
-
Protein details for CD247 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P20963-CD3Z_HUMAN
- Recommended name:
- T-cell surface glycoprotein CD3 zeta chain
- Protein Accession:
- P20963
- B1AK49
- Q5VX13
- Q8TAX4
Protein attributes for CD247 Gene
- Size:
- 164 amino acids
- Molecular mass:
- 18696 Da
- Quaternary structure:
-
- The TCR-CD3 complex is composed of a CD3D/CD3E and a CD3G/CD3E heterodimers that preferentially associate with TCRalpha and TCRbeta, respectively, to form TCRalpha/CD3E/CD3G and TCRbeta/CD3G/CD3E trimers. In turn, the hexamer interacts with CD3Z homodimer to form the TCR-CD3 complex. Alternatively, TCRalpha and TCRbeta can be replaced by TCRgamma and TCRdelta (PubMed:17055436). Interacts with SLA (PubMed:10449770). Interacts with TRAT1 (PubMed:11390434). Interacts with DOCK2 (PubMed:12176041). Interacts with SLA2. Interacts with SHB (PubMed:9484780). Interacts with ZAP70 (PubMed:26783323, PubMed:7659156). Interacts (tyrosine phosphorylated) with SHC1 (via SH2 domain) (PubMed:7544002). Interacts with PTPRC (PubMed:15684325). Interacts with CRK; this interaction regulates CD3Z phosphorylation (PubMed:28465009).
- (Microbial infection) Interacts with HIV-1 Nef; this interaction up-regulates the expression of the Fas ligand (FASLG) at the cell surface.
- (Microbial infection) Interacts with HIV-2 Nef protein; this interaction induces down-regulation of cell surface TCR/CD3 complexes.
Three dimensional structures from OCA and Proteopedia for CD247 Gene
Protein Expression for CD247 Gene
Post-translational modifications for CD247 Gene
- Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
- Ubiquitination at Lys150, Lys136, Lys129, posLast=118118, Lys104, posLast=9999, and Lys88
- Modification sites at PhosphoSitePlus
Other Protein References for CD247 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CD247
- Novus Biologicals Antibodies for CD247
-
Abcam antibodies for CD247
- Invitrogen Antibodies for CD247 (AFLGC-CD247)
- antibodies-online: Search results for 300 available CD247 Antibodies ranked by validation data
- Compare Top CD247 Antibodies
-
Recommended
- 110 WB Antibodies (anti-mouse)
- 35 FACS Antibodies (anti-mouse)
- 6 IP Antibodies (anti-mouse)
- 4 ICC Antibodies (anti-mouse)
- 3 ICS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 184 WB Antibodies (anti-human)
- 33 FACS Antibodies (anti-human)
- 18 IF Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
- 3 ICS Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 32 WB Antibodies (anti-rat)
- 3 ICS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 1 IP Antibody (anti-rat)
- GeneTex CD247 Antibody for CD247
-
Santa Cruz Biotechnology (SCBT) Antibodies for CD247
- Sino Biological Antibodies for CD247
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for CD247
- Origene Custom Protein Services for CD247
- Sino Biological Recombinant Proteins for CD247
- Browse Sino Biological Cell Lysates
- ProSpec Recombinant Proteins for CD247
- Search GeneTex for Proteins for CD247
-
Abcam proteins for CD247
Assay Products
No data available for DME Specific Peptides for CD247 Gene
Domains & Families for CD247 Gene
Gene Families for CD247 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Disease related genes
- FDA approved drug targets
- Predicted membrane proteins
Protein Domains for CD247 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for CD247 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P20963UniProtKB/Swiss-Prot:
CD3Z_HUMAN :- The ITAM domains mediate interaction with SHB.
- Belongs to the CD3Z/FCER1G family.
- Domain:
-
- The ITAM domains mediate interaction with SHB.
- Family:
-
- Belongs to the CD3Z/FCER1G family.
Function for CD247 Gene
Molecular function for CD247 Gene
- UniProtKB/Swiss-Prot Function:
- Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098, PubMed:7509083). CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity).
Phenotypes From GWAS Catalog for CD247 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 7509083 |
| GO:0042802 | identical protein binding | IPI | 17055436 |
| GO:0042803 | protein homodimerization activity | IMP,NAS | 12110186 |
| GO:1990782 | protein tyrosine kinase binding | IPI | 8681956 |
Phenotypes for CD247 Gene
- MGI mutant phenotypes for CD247:
- inferred from 8 alleles
- GenomeRNAi human phenotypes for CD247:
Animal Models for CD247 Gene
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CD247
-
CRISPR Products
-
OriGene CRISPR knockouts for CD247
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD247
- genomics-online: gRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- Applied Biological Materials CRISPR for CD247
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD247
- GenScript: Design CRISPR guide RNA sequences for CD247
miRNA for CD247 Gene
- miRTarBase miRNAs that target CD247
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD247
- Browse OriGene Inhibitory RNA Products For CD247
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD247
- genomics-online: shRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CD247
- Addgene plasmids for CD247
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD247
- Applied Biological Materials Clones for CD247
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD247 (CD3 zeta/CD247)
Cell Line Products
-
Horizon Cell Lines for CD247
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CD247 Gene
Localization for CD247 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CD247 Gene
- Membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IDA | 11390434 |
| GO:0005886 | plasma membrane | IDA,TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0042101 | T cell receptor complex | IDA,TAS | 8176201 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD247 Gene
Pathways & Interactions for CD247 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | HIV Life Cycle |
.64
|
.45
|
| 2 | Translocation of ZAP-70 to Immunological synapse |
.71
|
|
| 3 | Immune response NFAT in immune response | ||
| 4 | ICos-ICosL Pathway in T-Helper Cell | ||
| 5 | TCR Signaling (Qiagen) |
.68
|
|
Pathways by source for CD247 Gene
8 BioSystems pathways for CD247 Gene
21 Reactome pathways for CD247 Gene
14 GeneGo (Thomson Reuters) pathways for CD247 Gene
25 Qiagen pathways for CD247 Gene
Interacting Proteins for CD247 Gene
Selected Interacting proteins:
P20963-CD3Z_HUMAN
ENSP00000354782
for CD247 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for CD247
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002250 | adaptive immune response | IEA | -- |
| GO:0002376 | immune system process | IEA | -- |
| GO:0007166 | cell surface receptor signaling pathway | IEA | -- |
| GO:0016032 | viral process | IEA | -- |
| GO:0031295 | T cell costimulation | TAS | -- |
Transcripts for CD247 Gene
mRNA/cDNA for CD247 Gene
- (6) REFSEQ mRNAs :
- (15) Additional mRNA sequences :
- (59) Selected AceView cDNA sequences:
- (7) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000485089 627 bps (uc057nbn.1)
- ENST00000483825 2922 bps (uc057nbo.1)
- ENST00000362089 1609 bps (uc001gei.5)
- ENST00000392122 1678 bps (uc001gej.4)
- ENST00000476733 1074 bps (uc057nbp.1)
CRISPR Products
-
OriGene CRISPR knockouts for CD247
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD247
- genomics-online: gRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- Applied Biological Materials CRISPR for CD247
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CD247
- GenScript: Design CRISPR guide RNA sequences for CD247
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD247
- Browse OriGene Inhibitory RNA Products For CD247
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD247
- genomics-online: shRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
Clone Products
- Sino Biological Human cDNA Clone for CD247
- Addgene plasmids for CD247
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD247
- Applied Biological Materials Clones for CD247
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
- R&D Systems cDNA Clones for CD247 (CD3 zeta/CD247)
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8 | ^ | 9 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||
| SP4: | - | - | - | ||||||||||||||||||||||||||||||||||
| SP5: | - | ||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | |||||||||||||||||||||||||||||||
| SP7: | - | - | |||||||||||||||||||||||||||||||||||
| SP8: | - | - | |||||||||||||||||||||||||||||||||||
| SP9: | - | - | - |
Expression for CD247 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Blood (Cardiovascular System)
- Umbilical Cord (Extraembryonic Tissues)
-
Thymus (Hematopoietic System)
- Double Negative 2 Thymocytes Thymus
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for CD247 Gene
This gene is overexpressed in Whole Blood (x30.8) and Spleen (x5.7).
This gene is overexpressed in NK cells (27.9), Peripheral blood mononuclear cells (22.0), and CD8 Tcells (7.6).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CD247 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of CD247 Gene:
CD247SOURCE GeneReport for Unigene cluster for CD247 Gene:
Hs.156445mRNA Expression by UniProt/SwissProt for CD247 Gene:
P20963-CD3Z_HUMAN
Tissue specificity:
CD3Z is expressed in normal lymphoid tissue and in peripheral blood mononuclear cells (PBMCs) (PubMed:11722641).
Evidence on tissue expression from TISSUES for CD247 Gene
- Liver(4.1)
- Muscle(4)
- Pancreas(4)
- Lymph node(3.2)
- Spleen(3.2)
- Blood(2.9)
- Intestine(2.9)
- Bone marrow(2.4)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CD247 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeleton
Regions:
Head and neck:
- brain
- ear
- eye
- head
- jaw
- mandible
- maxilla
- middle ear
- mouth
- skull
- tooth
Abdomen:
- intestine
- large intestine
- liver
- small intestine
- spleen
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- bone marrow
- lymph node
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CD247
-
OriGene qPCR primer pairs and template standards for CD247
- genomics-online: primer clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
Gene Expression Assay Products
Orthologs for CD247 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CD247 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CD247 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cd247 33 |
|
||
| cow (Bos Taurus) |
Mammalia | CD247 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Cd247 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CD247 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CD247 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CD247 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cd247 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cd247l 34 |
|
OneToOne |
- Species where no ortholog for CD247 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)
- 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)
- platypus (Ornithorhynchus anatinus)
- 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)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for CD247 Gene
- ENSEMBL:
- Gene Tree for CD247 (if available)
- TreeFam:
- Gene Tree for CD247 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for CD247: view image
Paralogs for CD247 Gene
(2) SIMAP similar genes for CD247 Gene using alignment to 4 proteins:
- CD3Z_HUMAN
- B2LYR2_HUMAN
- H6QVQ5_HUMAN
- L8ECP7_HUMAN
No data available for Paralogs for CD247 Gene
Variants for CD247 Gene
| SNP ID | Clin | Chr 01 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs193922739 | pathogenic, Immunodeficiency due to defect in cd3-zeta | 167,439,354(-) | TG/CA | coding_sequence_variant, missense_variant | |
| rs193922740 | pathogenic, Immunodeficiency due to defect in cd3-zeta | 167,439,354(-) | T/A/G | coding_sequence_variant, missense_variant | |
| rs193922741 | pathogenic, Immunodeficiency due to defect in cd3-zeta | 167,439,353(-) | CTG/ATA | coding_sequence_variant, missense_variant | |
| rs33937946 | benign, Immunodeficiency due to defect in cd3-zeta | 167,438,621(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs34940956 | benign, Immunodeficiency due to defect in cd3-zeta | 167,438,624(-) | C/T | coding_sequence_variant, synonymous_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv1365494 | CNV | deletion | 17803354 |
| esv2665370 | CNV | deletion | 23128226 |
| esv2719206 | CNV | deletion | 23290073 |
| esv3587846 | CNV | loss | 21293372 |
| esv3890749 | CNV | gain | 25118596 |
| esv998064 | CNV | deletion | 20482838 |
| nsv1078878 | OTHER | inversion | 25765185 |
| nsv3432 | CNV | insertion | 18451855 |
| nsv528248 | CNV | loss | 19592680 |
| nsv528380 | CNV | loss | 19592680 |
| nsv528710 | CNV | gain | 19592680 |
| nsv831814 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
46.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.60;
12.96% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for CD247 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD247 Gene
Disorders for CD247 Gene
(7) MalaCards diseases for CD247 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| immunodeficiency 25 |
|
|
| t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta |
|
|
| oligoarticular juvenile idiopathic arthritis |
|
|
| t cell deficiency |
|
|
| cd3zeta deficiency |
|
|
Search CD247 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CD3Z_HUMAN- Immunodeficiency 25 (IMD25) [MIM:610163]: An immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and mitogens. {ECO:0000269 PubMed:16672702}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for CD247
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CD247 Gene
Publications for CD247 Gene
- Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. (PMID: 16672702) Rieux-Laucat F … Le Deist F (The New England journal of medicine 2006) 3 4 22 58
- Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex. (PMID: 2974162) Weissman AM … Klausner RD (Proceedings of the National Academy of Sciences of the United States of America 1988) 2 3 4 58
- Crk adaptor proteins regulate CD3ζ chain phosphorylation and TCR/CD3 down-modulation in activated T cells. (PMID: 28465009) Dong G … Isakov N (Cellular signalling 2017) 3 4 58
- A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70. (PMID: 26783323) Chan AY … Puck JM (The Journal of experimental medicine 2016) 3 4 58
- Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. (PMID: 21779181) Gorlova O … Martin J (PLoS genetics 2011) 3 44 58
Products for CD247 Gene
- Browse R&D Systems for Antibodies
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- R&D Systems cDNA Clones for CD247 (CD3 zeta/CD247)
- Browse Human Proteins and Enzymes
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- Custom Antibody ServicesOriGene Antibodies for CD247
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for MassSpec and Protein Over-expression Lysates for CD247
- Origene Custom Protein Services for CD247
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CD247
- Browse OriGene Inhibitory RNA Products For CD247
- OriGene qPCR primer pairs for CD247
- OriGene qPCR primer pairs and template standards for CD247
- OriGene CRISPR knockouts for CD247
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CD247
- GenScript: Next-day shipping of latest version cDNA ORF clones for CD247 in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CD247
- GenScript Custom Assay Services for CD247
- GenScript Custom overexpressing Cell Line Services for CD247
- GenScript: Design CRISPR guide RNA sequences for CD247
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CD247
- Sino Biological Human cDNA Clone for CD247
- Sino Biological Recombinant Proteins for CD247
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- Sino Biological Antibodies for CD247
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CD247
- Novus Biologicals lysates and proteins for CD247
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for CD247
- Abcam proteins for CD247
- Find your target
- Browse Primary Antibodies
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- Search Knockout (KO) Validated Antibodies
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- ProSpec Recombinant Proteins for CD247
- Invitrogen Antibodies for CD247 (AFLGC-CD247)
- Cyagen custom Knockout/knockin (KOKI) mouse models for CD247
- Addgene plasmids for CD247
- antibodies-online: Search results for 300 available CD247 Antibodies ranked by validation data
- Compare Top CD247 Antibodies
- Recommended
- 110 WB Antibodies (anti-mouse)
- 35 FACS Antibodies (anti-mouse)
- 6 IP Antibodies (anti-mouse)
- 4 ICC Antibodies (anti-mouse)
- 3 ICS Antibodies (anti-mouse)
- 2 IF Antibodies (anti-mouse)
- 184 WB Antibodies (anti-human)
- 33 FACS Antibodies (anti-human)
- 18 IF Antibodies (anti-human)
- 11 IHC (p) Antibodies (anti-human)
- 3 ICS Antibodies (anti-human)
- 1 ICC Antibody (anti-human)
- 1 IP Antibody (anti-human)
- 32 WB Antibodies (anti-rat)
- 3 ICS Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-rat)
- 1 IP Antibody (anti-rat)
- antibodies-online: Search results for 6 available CD247 Elisa Kits ranked by validation data
- Compare Top CD247 Elisa Kits
- antibodies-online: Search results for 13 available CD247 Proteins ranked by validation data
- Compare Top CD247 Proteins
- GeneTex CD247 Antibody for CD247
- Search GeneTex for Proteins for CD247
- Santa Cruz Biotechnology (SCBT) Antibodies for CD247
- Search Santa Cruz Biotechnology (SCBT) for CD247 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CD247
- Horizon Cell Lines for CD247
- genomics-online: cdna clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- orf clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- genomics-online: gRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- genomics-online: primer clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- genomics-online: shRNA clones - Search results for 175 available CD247 gene related products
- Overview of 175 available CD247 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CD247
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CD247
- GeneCopoeia miRNA 3'UTR Target clone products for CD247
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD247
Sources for CD247 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt