Home
GeneCards Guide
Suite
- MalaCards
- GeneALaCart
- GeneDecks
- GeneIP
- GeneLoc
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

Search By

Section (entire)

for

All GeneCards Within gene subset (to enable gene prioritization):
or upload a file of gene symbols

Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CD247 Gene

protein-coding GIFtS: 66
GCID: GC01M167399

CD247 molecule

(Previous names: CD3z antigen, zeta polypeptide (TiT3 complex), CD247 antigen...)
(Previous symbol: CD3Z)

Explore 56 diseases affiliated with
CD247 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
CD247 Molecule¹ ²		T-Cell Receptor T3 Zeta Chain² ³
CD3Z¹ ² ³ ⁵		CD3-ZETA²
TCRZ² ³ ⁵		CD247 Antigen, Zeta Subunit²
CD3H¹ ²		CD3zeta Chain²
CD3Q¹ ²		T-Cell Antigen Receptor Complex, Zeta Subunit Of CD3²
CD247 Antigen¹ ³		T-Cell Surface Glycoprotein CD3 Zeta Chain²
CD3z Antigen, Zeta Polypeptide (TiT3 Complex)¹ ²		TCR Zeta Chain²
T3Z² ³

External Ids:	HGNC: 1677¹	Entrez Gene: 919²	Ensembl: ENSG00000198821⁷	OMIM: 186780⁵	UniProtKB: P20963³

Export aliases for CD247 gene to outside databases

Previous GC identifers: GC01M165666 GC01M138645

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CD247:

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)

UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963

Function: Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen

triggering

Gene Wiki entry for CD247

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CD247 gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 4 AP-2alpha isoform 2 STAT5A AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CD247 promoter sequence

Search SABiosciences Chromatin IP Primers for CD247

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD247

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

Entrez Gene cytogenetic band: 1q24.2 Ensembl cytogenetic band: 1q24.2 HGNC cytogenetic band: 1q24.2

CD247 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD247 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M167399: view genomic region (about GC identifiers)

Start:	167,399,877 bp from pter	End:	167,487,847 bp from pter
Size:	87,971 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963 (See protein sequence)

Recommended Name: T-cell surface glycoprotein CD3 zeta chain precursor

Size: 164 amino acids; 18696 Da

Subunit: The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer

coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta.

CD3-zeta forms either homodimers or heterodimers with CD3-eta. Interacts with SLA and SLA2. Interacts with DOCK2 and

TRAT1. Interacts with HIV-1; this interaction up-regulates the expression of the Fas ligand (FASLG) at the cell

surface. Interacts with HIV-2 Nef protein; this interaction induces down-regulation of cell surface TCR/CD3 complexes.

Interacts with SHB. Interacts with ZAP70. Interacts (tyrosine phosphorylated) with SHC1 (via SH2 domain). Interacts

with PTPRC

Subcellular location: Membrane; Single-pass type I membrane protein

6 PDB 3D structures from and Proteopedia for CD247:

1TCE (3D)

1YGR (3D)

2HAC (3D)

2OQ1 (3D)

3IK5 (3D)

3IOZ (3D)

Secondary accessions: B1AK49 Q5VX13 Q8TAX4

Alternative splicing: 3 isoforms: P20963-1 P20963-2 P20963-3

Explore the universe of human proteins at neXtProt for CD247: NX_P20963

Post-translational modifications:

Phosphorylated on Tyr residues after T-cell receptor triggering (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P20963

CD247 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000725.1 NP_932170.1

ENSEMBL proteins:

ENSP00000354782 ENSP00000375969

Reactome Protein details: P20963
Human Recombinant Protein Products:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): CD247 OriGene Protein Over-expression Lysate (see all 2): CD247 OriGene Custom Protein Services for CD247
	GenScript Custom Purified and Recombinant Proteins Services for CD247
	Novus Biologicals CD247 Proteins Novus Biologicals CD247 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CD247

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	11390434
GO:0005886	plasma membrane	TAS	--
GO:0016021	integral to membrane	IEA	--
GO:0042101	T cell receptor complex	IDA	8176201
GO:0042105	alpha-beta T cell receptor complex	IEA	--

CD247 for ontologies About GeneDecksing

CD247 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CD247
	Browse R&D Systems for Antibodies
	OriGene Antibodies (see all 5): CD247 OriGene Custom Antibody Services for CD247
	GenScript Custom Superior Antibodies Services for CD247
	Novus Biologicals CD247 Antibodies
	Abcam antibodies for CD247
	Uscn Antibodies for CD247
	ThermoFisher Antibody for CD247

Assay Products for CD247:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for CD247
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CD247

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CD247 for domains About GeneDecksing

3 InterPro domains/families:

IPR003110 Phos_immunorcpt_sig_ITAM

IPR021663 CR3_zeta/IgE_Fc_rcpt_gamma

IPR024128 T-cell_CD3_zeta/eta

Graphical View of Domain Structure for InterPro Entry P20963

ProtoNet protein and cluster: P20963

1 Blocks protein family: IPB003110 Phosphorylated immunoreceptor signaling ITAM

UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963

Domain: The ITAM domains mediate interaction with SHB

Similarity: Belongs to the CD3Z/FCER1G family

Similarity: Contains 3 ITAM domains

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963

Function: Probable role in assembly and expression of the TCR complex as well as signal transduction upon antigen

triggering

miRNA Products:		miRTarBase miRNAs that target CD247: hsa-mir-346 (MIRT004233)

		OriGene 3'-UTR Clone (see all 2): CD247 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD247
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CD247:
		hsa-miR-214 hsa-miR-330-5p hsa-miR-326 hsa-miR-193a-5p hsa-miR-3120-3p hsa-miR-491-3p hsa-miR-761 hsa-miR-1205

		SwitchGear 3'UTR luciferase reporter plasmid: CD247 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD247 (see all 7) OriGene shRNA RFP: CD247 OriGene siRNA: CD247
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD247

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for CD247

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD247 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD247 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CD247 (NM_198053)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD247
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD247

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CD247
		Search LifeMap BioReagents cell lines for CD247

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD247

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane signaling receptor activity	IEA	--
GO:0005515	protein binding	IPI	16461343
GO:0042802	identical protein binding	IPI	17055436
GO:0042803	protein homodimerization activity	NAS	12110186

CD247 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for CD247:

Wnt reporter upregulated

Animal Models:
Mouse knock-outs for CD247: Cd247/Pou2f1^Cd247/tm1Tks Cd247^tm1Mhu Cd247^tm1Lov Cd247^tm1Mal Cd247^tm1Tks
7 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Cd247):

cellular	embryogenesis	hematopoietic system	immune system	mortality/aging
nervous system	reproductive system

CD247 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/32 super-pathways (see all 32) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Translocation of ZAP-70 to Immunological synapse

	Translocation of ZAP-70 to Immunological synapse	1.00			PD-1 signaling	0.76
	Phosphorylation of CD3 and TCR zeta chains	0.85			Generation of second messenger molecules	0.64

Cleavage of Alpha-1-Microglobulin

	Sequestering and phosphorylation Fc gamma receptors in the lipid rafts	0.66			Role of phospholipids in phagocytosis	0.53
	FCGR activation	0.65			Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell	0.30

Immune response IL-12-induced IFN-gamma production

	Immune response IL-12-induced IFN-gamma production	1.00			IL12-mediated signaling events	0.33
	Immune response_IL-12-induced IFN-gamma production	0.88

Immune System

	Immune System	1.00			Innate Immune System	0.46
	Adaptive Immune System	0.59

Regulation of actin dynamics for phagocytic cup formation

	Regulation of actin dynamics for phagocytic cup formation	1.00			Fcgamma receptor (FCGR) dependent phagocytosis	0.80
	Role of myosins in phagosome formation	0.80

Pathway sources
See GeneCards unified pathways
Show all pathways

5/14 EMD Millipore Pathways for CD247 (see all 14)

	Immune response Antigen presentation by MHC class II
	Immune response CD16 signaling in NK cells
	Signal transduction IP3 signaling
	Immune response NFAT in immune response
	Immune response Antigen presentation by MHC class I

5/14 GeneGo (Thomson Reuters) Pathways for CD247 (see all 14)

	G-protein signaling Regulation of RAC1 activity
	Immune response Antigen presentation by MHC class II
	Immune response CD28 signaling
	Immune response CD16 signaling in NK cells
	Immune response IL-12-induced IFN-gamma production

5/8 BioSystems Pathways for CD247 (see all 8)

	TCR Signaling Pathway
	IL12 signaling mediated by STAT4
	IL12-mediated signaling events
	CXCR4-mediated signaling events
	HIV-1 Nef- Negative effector of Fas and TNF-alpha

5/22 Reactome Pathways for CD247 (see all 22)

	Role of myosins in phagosome formation
	Costimulation by the CD28 family
	FCGR activation
	The role of Nef in HIV-1 replication and disease pathogenesis
	Disease

3 Kegg Pathways (Kegg details for CD247):

	Natural killer cell mediated cytotoxicity
	T cell receptor signaling pathway
	Chagas disease (American trypanosomiasis)

CD247 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CD247

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/92 Interacting proteins for CD247 (P20963^{1, 2, 3} ENSP00000354782⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 92)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ZAP70	P43403²^,³, ENSP00000264972⁴	MINT-8027153 MINT-8033018 MINT-8036100 MINT-8036025 MINT-8027168 MINT-8036085 MINT-8036010 MINT-8031499 MINT-8034584 MINT-8034599 MINT-8031468 MINT-8032988 MINT-8033003 MINT-8036055 MINT-8031453 MINT-8034614 MINT-8032973 MINT-8033033 MINT-8032943 MINT-8036070 MINT-8032958 MINT-8036040 I2D: score=5 STRING: ENSP00000264972
LCK	P06239²^,³, ENSP00000337825⁴	MINT-60782 I2D: score=4 STRING: ENSP00000337825
PTPN22	Q9Y2R2¹^,³, ENSP00000352833⁴	EBI-1165705,EBI-1211241 I2D: score=3 STRING: ENSP00000352833
SHC1	P29353²^,³, ENSP00000401303⁴	MINT-8031484 I2D: score=3 STRING: ENSP00000401303
NCK1	P16333²^,³, ENSP00000288986⁴	MINT-7301967 MINT-7301953 I2D: score=1 STRING: ENSP00000288986

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007166	cell surface receptor signaling pathway	--	--
GO:0016032	viral reproduction	TAS	--
GO:0019048	virus-host interaction	IEA	--
GO:0031295	T cell costimulation	TAS	--
GO:0044419	interspecies interaction between organisms	--	--

CD247 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

CD247 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CD247

1 DrugBank Compound for CD247 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Muromonab	AntiCD3 (see all 2)	140608-64-6	target	--	2503348 8861551

10 Novoseek chemical compound relationships for CD247 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	64.7	63	1531339 (4), 10400695 (3), 15944285 (3), 9531350 (2) (see all 40)
gdp	25	5	7721329 (4), 1547789 (1)
calcium	18.4	9	1532798 (1), 16116236 (1), 10958781 (1), 15307176 (1) (see all 8)
phosphatidylinositol	11.9	1	8195151 (1)
arginine	10.2	15	15922712 (4), 12874210 (4), 18817562 (2), 11300497 (2) (see all 5)
gtp	9.61	7	7721329 (5), 1386076 (1), 1547789 (1)
lipid	0.347	6	16116236 (1), 17410622 (1), 11851345 (1), 11062556 (1) (see all 5)
estradiol	0	4	19265538 (1), 19086989 (1)
leucine	0	1	9295038 (1)
estrogen	0	4	19086989 (1)

Search CenterWatch for drugs/clinical trials and news about CD247 / CD3Z

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for CD247 gene (2 alternative transcripts):

NM_000734.3 NM_198053.2

Unigene Cluster for CD247:

CD247 molecule

Hs.156445 [show with all ESTs]

Unigene Representative Sequence: AK223325

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000485089 ENST00000483825(uc001gek.2) ENST00000362089 ENST00000392122(uc001gei.4 uc001gej.4)

ENST00000476733 ENST00000470379 ENST00000479979

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CD247 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD247
		8 QIAGEN miScript miRNA Assays for microRNAs that regulate CD247:
		hsa-miR-214 hsa-miR-330-5p hsa-miR-326 hsa-miR-193a-5p hsa-miR-3120-3p hsa-miR-491-3p hsa-miR-761 hsa-miR-1205

		SwitchGear 3'UTR luciferase reporter plasmid: CD247 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD247 (see all 7) OriGene shRNA RFP: CD247 OriGene siRNA: CD247
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD247

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD247 (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD247 (see all 2) OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 2): CD247 (NM_198053)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD247
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD247

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD247 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CD247
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD247
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD247

Additional cDNA sequence:

AF228312.1 AK223325.1 AK313946.1 BC025703.1 EF079882.1 EF364117.1 EF364119.1 EU117371.1

EU117372.1 EU117373.1 J04132.1 X55510.1 X55511.1 X55512.1

8 DOTS entries:

DT.454181 DT.101963675 DT.101959157 DT.92421892 DT.121331152 DT.121331129 DT.121331134 DT.121331140

24/59 AceView cDNA sequences (see all 59):

AL532484 BM925225 BI838213 BQ051777 AL554350 CR619292 BM921412 CR614814

BX464301 BI819937 BP366840 BM988222 AA371606 AL577089 CR601423 T29531

BF836073 AW028320 AL557554 BI832527 AI271609 AL524754 AI420774 NM_000734

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for CD247 (see all 9) About this scheme

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:											-

ECgene alternative splicing isoforms for CD247

(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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CD247 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTAAAGCCTT

About this image
See CD247 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CD247

SOURCE GeneReport for Unigene cluster: Hs.156445

SABiosciences Expression via Pathway-Focused PCR Arrays including CD247:

HIV Host Response in human mouse rat

Cell Surface Markers in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD247 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat CD247
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD247
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD247

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD247

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for CD247 gene from 5/9 species (see all 9) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cd247^{1 , 5}	CD247 antigen^{1, 5}	81.71(n)¹ 81.1(a)¹		1 (73.14 cM)⁵ 12503¹ NM_001113391.2¹ NP_001106862.1¹ 165788681⁵
chicken (Gallus gallus)	Aves	CD247¹	CD247 molecule	69.12(n) 63.19(a)		395911 NM_206879.1 NP_996762.1
lizard (Anolis carolinensis)	Reptilia	CD247⁶	--	50(a)	1 ↔ 1	3(163683508-163689097)
African clawed frog (Xenopus laevis)	Amphibia	AF499688.1²	--	77.66(n)		AF499688.1
zebrafish (Danio rerio)	Actinopterygii	cd247l⁶	CD247 antigen like	27(a)	1 ↔ 1	9(35328199-35340150)

ENSEMBL Gene Tree for CD247 (if available)
TreeFam Gene Tree for CD247 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs193922740^1,2	C	other	141348182(-)	`GAACCA/TGCTCT`	4	Q L	mis¹		0	--	--	--	--
rs34839625^1,2	C,	--	138645540(-)	`TGCACA/CGCAGC`	2	--	ds500¹		5		NS	190
rs59432973^1,2		--	138645555(+)	`TTCCGG/TACACC`	2	--	ds500¹		2		CSA WA	120
rs35675808^1,2	C,F,	--	138645749(-)	`GCTGTG/CCCTTA`	2	--	ds500¹		9		NS NA	192
rs34771846^1,2	C,	--	138645764(-)	`CATCCC/TGGCTG`	2	--	ds500¹		6		NS WA	302
rs34157712^1,2	C,F,	--	138645804(-)	`CGGCAA/-TATGG`	2	--	ds500¹		6		NS CSA	188
rs870874^1,2	C,F,H,	--	138645809(+)	`TTGCCG/ACATTC`	2	--	ds500¹		9		NS EA WA	604
rs71632311^1,2	C,F,	--	138646100(+)	`TGTGCC/TCTGTA`	2	--	ut3¹		5		NA CSA WA	126
rs34279957^1,2	C,	--	138646318(-)	`TGCACA/GAAGTG`	2	--	ut3¹		5		NS	190
rs3738212^1,2	C,F,H,	--	138646408(-)	`CCTCCC/GTGCCT`	2	--	ut3¹ ese³		12		NS EA WA NA	958

HapMap Linkage Disequilibrium report for CD247 (167399877 - 167487847 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CD247
1 Indel: 23993
Human Gene Mutation Database (HGMD): CD247

Locus Specific Mutation Databases (LSDB): CD247

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD247

DNA2.0 Custom Variant and Variant Library Synthesis for CD247

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CD247 for disorders           About GeneDecksing

OMIM gene information: 186780
OMIM disorders: 610163
UniProtKB/Swiss-Prot: CD3Z_HUMAN, P20963

Defects in CD247 are the cause of immunodeficiency due to defect in CD3-zeta (CD3ZID) [MIM:610163]. An

immunological deficiency characterized by T-cells impaired immune response to alloantigens, tetanus toxoid and

mitogens

20/56 diseases for CD247 (see all 56): About MalaCards

common variable immunodeficiency severe combined immunodeficiency skin conditions lupus erythematosus

mycobacterial infection combined immunodeficiency lymphoblastic leukemia systemic lupus erythematosus

esophageal squamous cell carcinoma squamous cell carcinoma acute lymphoblastic leukemia essential hypertension

renal cell carcinoma immunodeficiency myeloid malignancy cervical carcinoma

carcinoma nephrotic syndrome chagas disease celiac disease

1 disease from the University of Copenhagen DISEASES database for CD247:

Cancer

10/24 Novoseek disease relationships for CD247 gene (see all 24) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
lupus erythematosus systemic	56.9	13	11352243 (2), 12587826 (1), 16116236 (1), 18177736 (1) (see all 12)
tumors	28.2	21	17332357 (2), 17867605 (1), 11753365 (1), 15313928 (1) (see all 18)
metastatic melanoma	26.4	1	9816296 (1)
ovarian carcinoma	24	3	20032419 (2), 9616229 (1)
cancer	24	14	15274412 (2), 16616055 (2), 10438351 (1), 17054067 (1) (see all 11)
autoimmune diseases	20.6	3	10910918 (1), 11389026 (1)
melanoma	14.2	3	9815928 (1), 9816296 (1), 18245524 (1)
ovarian cancer	13.2	4	15262119 (2), 16386781 (1), 15655551 (1)
immunodeficiency	12.6	7	9427713 (2), 10609792 (1), 10910918 (1), 16672702 (1) (see all 5)
ascites	5.76	2	15655551 (1), 20032419 (1)

Human Genome Epidemiology (HuGE) Navigator: CD247 (9 documents)

Export disorders for CD247 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)
About This Section

PubMed articles for CD247 gene, integrated from 9 sources (see all 353):
(articles sorted by number of sources associating them with CD247)

Utopia: connect your pdf to the dynamic
world of online information

Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex. (PubMed id 2974162)^{1, 2, 3} Weissman A.M.... Klausner R.D. (1988)
Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. (PubMed id 16672702)^{1, 2, 9} Rieux-Laucat F.... Le Deist F. (2006)
The structure of the zetazeta transmembrane dimer reveals features essential for its assembly with the T cell receptor. (PubMed id 17055436)^{1, 2} Call M.E....Wucherpfennig K.W. (2006)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)^{1, 2} Rush J.... Comb M.J. (2005)
Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)^{1, 2} Brill L.M....Peters E.C. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Profiling of tyrosine phosphorylation pathways in human cells using mass spectrometry. (PubMed id 12522270)^{1, 2} Salomon A.R.... Peters E.C. (2003)
DOCK2 mediates T cell receptor-induced activation of Rac2 and IL-2 transcription. (PubMed id 12176041)^{1, 2} Nishihara H....Tanaka S. (2002)
The transmembrane adaptor protein TRIM regulates T-cell receptor (TCR) expression and TCR-mediated signaling via an association with the TCR zeta chain. (PubMed id 11390434)^{1, 2} Kirchgessner H.... Schraven B. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 919	HGNC: 1677	AceView: CD3Z	Ensembl:ENSG00000198821	euGenes: HUgn919
ECgene: CD247	Kegg: 919	H-InvDB: CD247

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for CD247	Pharmacogenomics, SNPs, Pathways
CD247base	http://bioinf.uta.fi/CD247base/
NIEHS-SNPs	http://egp.gs.washington.edu/data/cd3z/

Intellectual Property for CD247 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for CD247 gene:
Search GeneIP for patents involving CD247

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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

	Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
	Browse Small Molecules at EMD Millipore
	Browse for Gene Knock-down Tools from EMD Millipore
	Browse Kits and Assays available from EMD Millipore
	EMD Millipore Mono- and Polyclonal Antibodies for the study of CD247
	Browse Purified and Recombinant Proteins at EMD Millipore

	EMD Millipore Custom Antibody & Bulk Services
	EMD Millipore Preclinical / Clinical Development Services
	EMD Millipore Immunoassay Services
	EMD Millipore Target Screening & Profiling Services

	Browse Antibodies		Browse Cell Culture Products
	Browse ELISAs		Browse Flow Cytometry Kits
	Browse Primer Pairs		Browse Kinase Activity Assays/Reagents
	Browse ELISpot Kits/Development Modules		Browse TFB/Immunoprecipitation Assays
	Browse Apoptosis Detection Kits/Reagents		Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents
	Browse DNA Damage/Repair Kits/Reagents		Browse Multiplex/Array Assay Kits/Reagents
	Browse Cell Selection/Detection Kits/Reagents		Browse Secondary Antibodies/Controls/Staining Reagents
	Browse Phosphatase Activity Assays/Reagents		Browse Recombinant/Natural Proteins

	OriGene Antibodies for CD247		OriGene shRNA RFP for CD247
	OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD247		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD247
	OriGene Protein Over-expression Lysate for CD247		Browse OriGene Fluorogenic Cell Assay Kits
	OriGene siRNA for CD247		OriGene 3'-UTR Clone for CD247
	OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD247		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD247
	Browse OriGene GFP tagged cDNA clones in CMV expression vector		Browse OriGene MicroRNA Expression Plasmids
	Browse OriGene basic RS shRNAs		Browse OriGene validated miRNA SYBR primer pairs
	OriGene Purified Protein for CD247		OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
	OriGene Custom Antibody Services for CD247		OriGene Custom Protein Services for CD247
	OriGene Custom Immunoassay Development

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CD247
	QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD247
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD247
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD247
	QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD247
	QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD247

	GenScript Custom Purified and Recombinant Proteins Services for CD247		GenScript cDNA clones with any tag delivered in your preferred vector for CD247
	GenScript Custom Assay Services for CD247		GenScript Custom Superior Antibodies Services for CD247
	GenScript Custom overexpressing Cell Line Services for CD247		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
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in CD247 promoter
	Search Chromatin IP Primers for CD247
	RT² qPCR Primer Assay in human, mouse, rat CD247
	GNC Network for CD247
	SABiosciences PCR Arrays including human, mouse, rat CD247

Search Tocris compounds for CD247

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	CD247 antibodies
	CD247 proteins
	CD247 lysates

	Antibodies for CD247
	See all of Abcam's Antibodies, Kits and Proteins for CD247
	Custom Antibody / Protein Production Service
	Bulk Purchasing
	Advantages of Rabbit Monoclonal antibodies
	Abcam protocols and scientific support

Browse ProSpec Recombinant Proteins

CD247 Proteins, Antibodies, CLIAs, and ELISAs

Search LifeMap BioReagents cell lines for CD247

	Gene Synthesis
	Protein Engineering
	Variant Library Synthesis
	Codon Optimization
	Protein Production and Purification

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD247

	SwitchGear 3'UTR luciferase reporter plasmids for CD247
	SwitchGear Promoter luciferase reporter plasmids for CD247

ThermoFisher Antibody for CD247

Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD247

GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

View Random Gene

Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes CD247 gene at Home site.

hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4

Advanced Search

Export list of displayed genes

CD247 Gene

CD247 molecule

Aliases
for CD247 gene

Summaries
for CD247 gene

Genomic Views
for CD247 gene

Proteins
for CD247 gene

Protein Domains /
Families
for CD247 gene

Function
for CD247 gene

Pathways & Interactions
for CD247 gene

Drugs & Compounds
for CD247 gene

Transcripts
for CD247 gene

Expression
for CD247 gene

Orthologs
for CD247 gene

Paralogs
for CD247 gene

Genomic Variants
for CD247 gene

Disorders / Diseases
for CD247 gene

Publications
for CD247 gene

External Searches for CD247 gene

Genome Databases showing CD247 gene

Other Databases showing CD247 gene

Specialized Databases showing CD247 gene

Intellectual Property
for CD247 gene

Products
for CD247 gene

View Random Gene

Gastric Cancer
Autoimmune Diseases
Melanoma
Ovarian Cancer
Tuberculosis Pulmonary
Ascites
Colorectal Cancer
OVARIAN CARCINOMA
Carcinoma
Hodgkin Disease
Carcinoma Squamous Cell
immunodeficiency
Infectious disease
Leukemia
Tumors
Metastasis
Lymphoblastic Leukemia Acute
CERVICAL CARCINOMA
Necrosis
metastatic melanoma
Carcinoma Renal Cell
Cancer
virus infection
Lupus Erythematosus Systemic

Advanced Search

Export list of displayed genes

CD247 Gene

CD247 molecule

Aliasesfor CD247 gene

Summariesfor CD247 gene

Genomic Viewsfor CD247 gene

Proteinsfor CD247 gene

Protein Domains /Familiesfor CD247 gene

Functionfor CD247 gene

Pathways & Interactionsfor CD247 gene

Drugs & Compoundsfor CD247 gene

Transcriptsfor CD247 gene

Expression for CD247 gene

Orthologsfor CD247 gene

Paralogsfor CD247 gene

Genomic Variantsfor CD247 gene

Disorders / Diseasesfor CD247 gene

Publicationsfor CD247 gene

External Searches for CD247 gene

Genome Databases showing CD247 gene

Other Databases showing CD247 gene

Specialized Databases showing CD247 gene

Intellectual Propertyfor CD247 gene

Productsfor CD247 gene

View Random Gene

Aliases
for CD247 gene

Summaries
for CD247 gene

Genomic Views
for CD247 gene

Proteins
for CD247 gene

Protein Domains /
Families
for CD247 gene

Function
for CD247 gene

Pathways & Interactions
for CD247 gene

Drugs & Compounds
for CD247 gene

Transcripts
for CD247 gene

Expression
for CD247 gene

Orthologs
for CD247 gene

Paralogs
for CD247 gene

Genomic Variants
for CD247 gene

Disorders / Diseases
for CD247 gene

Publications
for CD247 gene

Intellectual Property
for CD247 gene

Products
for CD247 gene