CD247 Gene (Protein Coding)

CD247 Molecule

GC01M167399
GIFtS:
50
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 i... See more...

Aliases for CD247 Gene

Aliases for CD247 Gene

  • CD247 Molecule 2 3 5
  • T-Cell Surface Glycoprotein CD3 Zeta Chain 2 3 4
  • T-Cell Receptor T3 Zeta Chain 3 4
  • CD247 Antigen 2 4
  • CD3H 2 3
  • CD3Q 2 3
  • CD3Z 3 4
  • TCRZ 3 4
  • T3Z 3 4
  • T-Cell Antigen Receptor Complex, Zeta Subunit Of CD3 3
  • CD3z Antigen, Zeta Polypeptide (TiT3 Complex) 2
  • CD3Z Antigen, Zeta Polypeptide (TiT3 Complex) 3
  • CD247 Antigen, Zeta Subunit 3
  • TCR Zeta Chain 3
  • CD3zeta Chain 3
  • CD3-ZETA 3
  • IMD25 3
  • CD247 5

External Ids for CD247 Gene

Previous HGNC Symbols for CD247 Gene

  • CD3Z

Previous GeneCards Identifiers for CD247 Gene

  • GC01M165666
  • GC01M138645

Summaries for CD247 Gene

Entrez Gene Summary 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 TCR signaling in naive CD4+ T cells and ERK Signaling. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot Summary 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).

Gene Wiki entry for CD247 Gene

Additional gene information for CD247 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CD247 Gene

Genomics for CD247 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD247

Top Transcription factor binding sites by QIAGEN in the CD247 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • STAT5A

Genomic Locations for CD247 Gene

Latest Assembly
chr1:167,430,640-167,518,610
(GRCh38/hg38)
Size:
87,971 bases
Orientation:
Minus strand

Previous Assembly
chr1:167,399,877-167,487,766
(GRCh37/hg19 by Entrez Gene)
Size:
87,890 bases
Orientation:
Minus strand

chr1:167,399,877-167,487,847
(GRCh37/hg19 by Ensembl)
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:
CD247 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD247 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CD247 Gene

Proteins for CD247 Gene

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  • 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
    Secondary Accessions:
    • 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). Interacts (on T cell side) with CD81, ICAM1 and CD9 at immunological synapses between antigen-presenting cells and T cells (PubMed:23858057). Interacts with CD160 (PubMed:11978774). Interacts with LY6E (By similarity).
    • (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

    Alternative splice isoforms for CD247 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD247 Gene

Protein Expression for CD247 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CD247 Gene

  • Phosphorylated on Tyr residues after T-cell receptor triggering by LCK in association with CD4/CD8.
  • Ubiquitination at Lys88, Lys99, Lys104, Lys118, Lys129, Lys136, and Lys150
  • Modification sites at PhosphoSitePlus

Other Protein References for CD247 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

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

InterPro:
Blocks:
  • Phosphorylated immunoreceptor signaling ITAM
ProtoNet:

Suggested Antigen Peptide Sequences for CD247 Gene

GenScript: Design optimal peptide antigens:
  • CD247 (A9Y844_HUMAN)
  • CD247 transcript variant 2 (B2LYR2_HUMAN)
  • T-cell receptor T3 zeta chain (CD3Z_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20963

UniProtKB/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.
genes like me logo Genes that share domains with CD247: view

Function for CD247 Gene

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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 IDA,IPI 17055436
GO:1990782 protein tyrosine kinase binding IPI 8681956
genes like me logo Genes that share ontologies with CD247: view
genes like me logo Genes that share phenotypes with CD247: view

Human Phenotype Ontology for CD247 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CD247 Gene

MGI Knock Outs for CD247:

Animal Models for research

miRNA for CD247 Gene

miRTarBase miRNAs that target CD247

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD247

Clone products for research

  • Addgene plasmids 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

Cell 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 CD247 gene
Compartment Confidence
plasma membrane 5
extracellular 3
golgi apparatus 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CD247 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 11390434
GO:0005794 Golgi apparatus IEA --
GO:0005886 plasma membrane IDA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CD247: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CD247 Gene

Pathways & Interactions for CD247 Gene

PathCards logo

SuperPathways for CD247 Gene

SuperPathway Contained pathways
1 HIV Life Cycle
HIV Infection
.64
Infectious disease
.61
Host Interactions of HIV factors
.57
Disease
.45
2 Translocation of ZAP-70 to Immunological synapse
Phosphorylation of CD3 and TCR zeta chains
.81
Translocation of ZAP-70 to Immunological synapse
.81
PD-1 signaling
.71
Generation of second messenger molecules
.57
3 Immune response NFAT in immune response
Immune response ICOS pathway in T-helper cell
.56
Immune response NFAT in immune response
.56
Immune response T cell receptor signaling pathway
.52
Immune response CD28 signaling
.52
4 T cell receptor signaling pathway
T cell receptor signaling pathway
.50
PD-L1 expression and PD-1 checkpoint pathway in cancer
.39
T-Cell antigen Receptor (TCR) Signaling Pathway
.37
5 ICos-ICosL Pathway in T-Helper Cell
CD28 Signaling in T-Helper Cell
.66
ICos-ICosL Pathway in T-Helper Cell
.66
Calcium Mediated T-Cell Apoptosis
.31
genes like me logo Genes that share pathways with CD247: view

Pathways by source for CD247 Gene

14 GeneGo (Thomson Reuters) pathways for CD247 Gene
  • G-protein signaling N-RAS regulation pathway
  • G-protein signaling_Rap1A regulation pathway
  • G-protein signaling_Regulation of RAC1 activity
  • Immune response Antigen presentation by MHC class I
  • Immune response Antigen presentation by MHC class II
25 Qiagen pathways for CD247 Gene
  • Calcium Mediated T-Cell Apoptosis
  • CCR5 Pathway in Macrophages
  • CD28 Signaling in T-Helper Cell
  • CDC42 Pathway
  • CTL Mediated Apoptosis

SIGNOR curated interactions for CD247 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CD247 Gene

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:0038096 Fc-gamma receptor signaling pathway involved in phagocytosis TAS --
genes like me logo Genes that share ontologies with CD247: view

Drugs & Compounds for CD247 Gene

Products:

  1. Drug products for research

(8) Drugs for CD247 Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Muromonab Approved, Investigational Pharma Target, binder 0
MT-103 Pharma 0

(4) Additional Compounds for CD247 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD247: view

Transcripts for CD247 Gene

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mRNA/cDNA for CD247 Gene

4 REFSEQ mRNAs :
26 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD247

Clone products for research

  • Addgene plasmids for CD247

Alternative Splicing Database (ASD) splice patterns (SP) for CD247 Gene

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: - - -

Relevant External Links for CD247 Gene

GeneLoc Exon Structure for
CD247

Expression for CD247 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CD247 Gene

mRNA expression in normal human tissues for CD247 Gene
mRNA expression by GTEx for CD247 GenemRNA expression by BioGPS for CD247 Gene

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).

Protein differential expression in normal tissues from HIPED for CD247 Gene

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



Protein tissue co-expression partners for CD247 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD247

SOURCE GeneReport for Unigene cluster for CD247 Gene:

Hs.156445

mRNA 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(4.4)
  • Pancreas(4.3)
  • Muscle(4.2)
  • Spleen(3.7)
  • Lymph node(3.7)
  • Intestine(3.4)
  • Bone marrow(3.2)
  • Blood(3)
  • Lung(2.2)

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
genes like me logo Genes that share expression patterns with CD247: view

Orthologs for CD247 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD247 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CD247 30 31
  • 99.59 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CD247 30 31
  • 85.96 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cd247 30
  • 83.94 (n)
Cow
(Bos Taurus)
 Mammalia CD247 30 31
  • 83.33 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cd247 30 17 31
  • 81.71 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia CD247 31
  • 78 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CD247 30 31
  • 69.12 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CD247 31
  • 52 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cd247 30
  • 56.28 (n)
Zebrafish
(Danio rerio)
 Actinopterygii cd247l 31
  • 28 (a)
 OneToOne
Species where no ortholog for CD247 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
genes like me logo Genes that share paralogs with CD247: view

No data available for Paralogs for CD247 Gene

Variants for CD247 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD247 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
12750 Pathogenic: Immunodeficiency due to defect in cd3-zeta 167,439,354(-) TG/CA
NM_000734.4(CD247):c.208_209inv (p.Gln70Trp) 		MISSENSE
835176 Uncertain Significance: Immunodeficiency due to defect in cd3-zeta 167,440,714(-) T/C
NM_198053.3(CD247):c.112A>G (p.Ile38Val) 		MISSENSE
845328 Uncertain Significance: Immunodeficiency due to defect in cd3-zeta 167,434,082(-) G/T
NM_198053.3(CD247):c.337-6C>A 		INTRON
863731 Uncertain Significance: Immunodeficiency due to defect in cd3-zeta 167,518,429(-) G/T
NM_198053.3(CD247):c.37C>A (p.Gln13Lys) 		MISSENSE
935732 Uncertain Significance: Immunodeficiency due to defect in cd3-zeta 167,440,715(-) T/A
NM_198053.3(CD247):c.111A>T (p.Gly37=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CD247 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CD247 Gene

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

Variation tolerance for CD247 Gene

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

Human Gene Mutation Database (HGMD)
CD247
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CD247

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD247 Gene

Disorders for CD247 Gene

MalaCards: The human disease database

(21) MalaCards diseases for CD247 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
immunodeficiency 25
  • imd25
t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta
  • t-b+ scid due to cd3delta/cd3epsilon/cd3zeta
oligoarticular juvenile idiopathic arthritis
  • oligoarticular jia
rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
  • juvenile polyarthritis without rheumatoid factor
cd3zeta deficiency
- elite association - COSMIC cancer census association via MalaCards
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 variants affecting the gene represented in this entry.

Additional Disease Information for CD247

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CD247: view

No data available for Genatlas for CD247 Gene

Publications for CD247 Gene

  1. 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 23
  2. 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
  3. 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
  4. 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
  5. CD81 controls sustained T cell activation signaling and defines the maturation stages of cognate immunological synapses. (PMID: 23858057) Rocha-Perugini V … Sanchez-Madrid F (Molecular and cellular biology 2013) 3 4

ExternalLinks

View latest publications for CD247 gene in Mastermind

Products for CD247 Gene

  • Addgene plasmids for CD247

Sources for CD247 Gene