CD247 CD247 molecule [Homo sapiens] - Gene

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Summary

Official Symbol: CD247provided by HGNC
Official Full Name: CD247 moleculeprovided by HGNC
Primary source: HGNC:1677
Locus tag: RP11-104L21.1
See related: Ensembl:ENSG00000198821; HPRD:01729; MIM:186780; Vega:OTTHUMG00000034593
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: T3Z; CD3H; CD3Q; CD3Z; TCRZ; CD3-ZETA
Summary: 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]

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Genomic context

Location :: 1q22-q23

Sequence :: Chromosome: 1; NC_000001.10 (167399877..167487847, complement)

See CD247 in Epigenomics, MapViewer

Chromosome 1 - NC_000001.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

Data show a significant association between variants in CD247 and systemic lupus erythematosus in Asian populations.
Title: Association of CD247 with systemic lupus erythematosus in Asian populations.
CD247 as an systemic sclerosis susceptibility gene
Title: Independent replication establishes the CD247 gene as a genetic systemic sclerosis susceptibility factor.
Study characterized the expression pattern of CD3-gamma, -delta, -epsilon and -zeta chain genes from placenta, which contributes to further understanding of the features of T-cell immune status in placenta.
Title: The expression pattern of CD3 chain genes in fetal/maternal interface.
Data show that the expression pattern of the four CD3 chains was epsilon>zeta>delta>gamma in peripheral blood mononuclear cells from MM, while a gamma>epsilon>zeta>delta expression pattern was found in healthy controls.
Title: Change in expression pattern of TCR-CD3 complex in patients with multiple myeloma.
The expression level of CD3zeta in chronic myeloid leukemia patients was lower than in controls.
Title: [Change of expression pattern of CD3 genes in peripheral blood T-cells from CML patients].
Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
CD247 is a new susceptibility locus for systemic sclerosis
Title: Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
ASF/SF2 as a novel factor in the regulation of alternative splicing of the 3'-UTR of CD3zeta and protein expression in human T cells.
Title: Alternative splicing factor/splicing factor 2 regulates the expression of the zeta subunit of the human T cell receptor-associated CD3 complex.
Blockade of B7-H1 greatly promoted the proliferation of CD3AK cells and extended the survival time of CD3AK cells in vitro.
Title: [Effects of B7-H1 blockade on biologic activity of CD3AK cells in vitro].
CD3zeta transcripts and protein were found to be absent from most solid tumor-TILs from patients with ovarian cancer, whereas they were expressed in ASC-TILs and PBMCs from such patients.
Title: Differential expression of CD3zeta message and protein in tumor infiltrating lymphocytes from solid tumor specimens and malignant ascites from patients with ovarian carcinoma.

Submit: New GeneRIF Correction See all (64)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.

Immunodeficiency due to defect in CD3-zeta

MIM: 610163

Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.

Multiple common variants for celiac disease influencing immune gene expression.

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HIV-1 protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	HIV-1 Nef increases the association of the src family tyrosine kinase, Lck, and TCRzeta with rafts in human T cells, suggesting Nef primes resting T cells for activation by increasing the levels of signaling molecules within rafts	PubMed
	nef	HIV-1 Nef directly interacts with TCR-zeta; this interaction is mediated through amino acids 73-82 in Nef and is required for HIV-mediated upregulation of Fas ligand expression	PubMed
	nef	An HIV-1 Nef isoform (R-Nef) efficiently interacts with signaling molecules of the T cell receptor (TCR) in primary T cells, including TCR-zeta, Lck, and Vav; the PxxP motif in Nef is involved in the interactions	PubMed
Tat	tat	HIV-1 Tat interacts with CD3 and CD28 to co-stimulate IL-2 and IL-8 expression	PubMed
capsid	gag	Interferon-gamma can counteract the inhibitory effect of HIV-1 Capsid based peptides on antibody response to SRC	PubMed
	gag	Peptides corresponding to amino acids 218-238 of HIV-1 Capsid inhibited anti-CD3-induced lymphoproliferation but did not directly affect anti-CD2 activation	PubMed
	gag	Synthetic peptides corresponding to amino acids 218-238 of HIV-1 Capsid have been shown to inhibit in a dose dependent manner the induction of a specific antibody response to the sheep red cell (SRC) antigen through the T3-Ti complex	PubMed

Go to the HIV-1, Human Protein Interaction Database

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Products	Interactant	Other Gene	Source	Pubs	Description
P20963	P06729	CD2	HPRD	PubMed
P20963	Q9BZW8	CD244	HPRD	PubMed
P20963	P20963	CD247	HPRD	PubMed
P20963	P10747	CD28	HPRD	PubMed
P20963	P04234	CD3D	HPRD	PubMed
P20963	P09326	CD48	HPRD	PubMed
P20963	P06127	CD5	HPRD	PubMed
P20963	P41240	CSK	HPRD	PubMed
P20963	Q92608	DOCK2	HPRD	PubMed
P20963	P08637	FCGR3A	HPRD	PubMed
P20963	P06241	FYN	HPRD	PubMed
P20963	Q9UQC2	GAB2	HPRD	PubMed
P20963	P62993	GRB2	HPRD	PubMed
P20963	P52333	JAK3	HPRD	PubMed
P20963	P06239	LCK	HPRD	PubMed
P20963	Q16553	LY6E	HPRD	PubMed
P20963	O76036	NCR1	HPRD	PubMed
P20963	O14931	NCR3	HPRD	PubMed
P20963	Phosphatidylinositol 4 kinase type II beta	PI4K2B	HPRD	PubMed
P20963	Q9Y2R2	PTPN22	HPRD	PubMed
P20963	P26045	PTPN3	HPRD	PubMed
P20963	P29350	PTPN6	HPRD	PubMed
P20963	P08575	PTPRC	HPRD	PubMed
P20963	Q9UQQ2	SH2B3	HPRD	PubMed
P20963	P29353	SHC1	HPRD	PubMed
P20963	Q13239	SLA	HPRD	PubMed
P20963	Q9H6Q3	SLA2	HPRD	PubMed
P20963	P42229	STAT5A	HPRD	PubMed
P20963	P51692	STAT5B	HPRD	PubMed
P20963	P02786	TFRC	HPRD	PubMed
P20963	P58753	TIRAP	HPRD	PubMed
P20963	Q6PIZ9	TRAT1	HPRD	PubMed
P20963	Q13432	UNC119	HPRD	PubMed
P20963	P43403	ZAP70	HPRD	PubMed
P20963	T cell antigen receptor, alpha		HPRD	PubMed
P20963	T cell antigen receptor, beta		HPRD	PubMed
BioGRID:107357	BioGRID:112218	ATXN2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:107315	CBL	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:108129	DOCK2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:115181	GAB2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:109921	JAK3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107357	BioGRID:114828	NCR1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:111752	PTPRC	BioGRID	PubMed	Reconstituted Complex
BioGRID:107357	BioGRID:112394	SLA	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:123928	SLA2	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:112653	STAT5A	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:112654	STAT5B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:119154	TRAT1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:115651	TUBA1B	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:114548	UNC119	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:107357	BioGRID:113367	ZAP70	BioGRID	PubMed	Affinity Capture-Western
BioGRID:107357	BioGRID:1205545	nef	BioGRID	PubMed	FRET
BioGRID:107357	BioGRID:1205543	vpu	BioGRID	PubMed	FRET

Function	Evidence Code	Pubs
identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein binding	IPI Inferred from Physical Interaction more info	PubMed
protein homodimerization activity	NAS Non-traceable Author Statement more info	PubMed
receptor activity	IEA Inferred from Electronic Annotation more info
transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
T cell costimulation	TAS Traceable Author Statement more info
T cell receptor signaling pathway	TAS Traceable Author Statement more info
cell surface receptor signaling pathway	IEA Inferred from Electronic Annotation more info
interspecies interaction between organisms	IEA Inferred from Electronic Annotation more info
regulation of defense response to virus by virus	TAS Traceable Author Statement more info
regulation of immune response	TAS Traceable Author Statement more info
viral reproduction	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
T cell receptor complex	IDA Inferred from Direct Assay more info	PubMed
alpha-beta T cell receptor complex	IEA Inferred from Electronic Annotation more info
cytoplasm	IDA Inferred from Direct Assay more info	PubMed
integral to membrane	IEA Inferred from Electronic Annotation more info
plasma membrane	IDA Inferred from Direct Assay more info	PubMed
plasma membrane	TAS Traceable Author Statement more info

General protein information

Preferred Names: T-cell surface glycoprotein CD3 zeta chain

Names: T-cell surface glycoprotein CD3 zeta chain; CD3zeta chain; TCR zeta chain; CD247 antigen, zeta subunit; T-cell receptor T3 zeta chain; CD3Z antigen, zeta polypeptide (TiT3 complex); T-cell antigen receptor complex, zeta subunit of CD3

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_007384.1 RefSeqGene

Range

5000..92970

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_36

mRNA and Protein(s)

NM_000734.3 → NP_000725.1 T-cell surface glycoprotein CD3 zeta chain isoform 2 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the mid-coding region, which results in a missing in-frame codon, as compared to variant 1. The encoded isoform (2) is thus missing an internal amino acid, as compared to isoform 1.

Source sequence(s)

AI420774, AK223325, AK313946, AL557555, BC025703

Consensus CDS

CCDS1260.1

UniProtKB/Swiss-Prot

P20963

Related

ENSP00000375969, OTTHUMP00000032543, ENST00000392122, OTTHUMT00000083706

Conserved Domains (2) summary

pfam02189
Location:69 – 89
Blast Score: 81

ITAM; Immunoreceptor tyrosine-based activation motif

pfam11628
Location:28 – 60
Blast Score: 164

TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain
NM_198053.2 → NP_932170.1 T-cell surface glycoprotein CD3 zeta chain isoform 1 precursor

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AI420774, AK223325, AL557555, BC025703

Consensus CDS

CCDS1261.1

UniProtKB/Swiss-Prot

P20963

Related

ENSP00000354782, OTTHUMP00000032544, ENST00000362089, OTTHUMT00000083707

Conserved Domains (2) summary

pfam02189
Location:69 – 89
Blast Score: 80

ITAM; Immunoreceptor tyrosine-based activation motif

pfam11628
Location:28 – 60
Blast Score: 165

TCR_zetazeta; T-cell surface glycoprotein CD3 zeta chain

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000001.10 Reference GRCh37.p5 Primary Assembly

Range

167399877..167487847, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000133.1 Alternate HuRef

Range

138645985..138733880, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL031733.3	CAI21380.1
		CAI21381.1
genomic	AL031733.3	CAI21380.1
		CAI21381.1
genomic	AL359962.15	CAH69974.1
		CAH69975.1
genomic	CH471067.1	EAW90790.1
		EAW90791.1
		EAW90792.1
genomic	DQ072717.1	AAY57330.1
genomic	S51397.1	AAB24602.1
genomic	S94400.1	None
genomic	S94404.1	None
genomic	S94414.1	None
genomic	S94421.1	AAB22030.1
mRNA	AF228312.1	AAF34793.1
mRNA	AI420774.1	None
mRNA	AK128376.1	BAC87407.1
mRNA	AK223325.1	BAD97045.1
mRNA	AK313946.1	BAG36664.1
mRNA	AL557555.3	None
mRNA	BC025703.1	AAH25703.1
mRNA	BI819937.1	None
mRNA	EF364119.1	ABQ28690.1
mRNA	EU117371.1	ABW06577.1
mRNA	EU117372.1	ABW06578.1
mRNA	EU117373.1	ABW06579.1
mRNA	EU118788.1	ABW96174.1
mRNA	EU118789.1	ABW96175.1
mRNA	EU118790.1	ABW96176.1
mRNA	EU118791.1	ABW96177.1
mRNA	EU118792.1	ABW96178.1
mRNA	EU118793.1	ABW96179.1
mRNA	EU597245.1	ACC61185.1
mRNA	J04132.1	AAA60394.1
mRNA	X55510.1	None
mRNA	X55511.1	None
mRNA	X55512.1	None
other-genetic	DQ893778.2	ABM84704.1
other-genetic	EU176191.1	ABW03642.1

Protein Accession	Links
Protein Accession	GenPept Link	UniProtKB Link
A46461	GenPept
P20963.2	GenPept	UniProtKB/Swiss-Prot:P20963
Q6KAV0	GenPept	UniProtKB/TrEMBL:Q6KAV0

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Additional Links

Epigenomics
MIM 186780
CD247base: Mutation registry for Autosomal recessive CD3Zeta deficiency CD247base/
PharmGKB PA26219
Resource of Asian Primary Immunodeficiency Diseases (RAPID) AGID_29
UCSC UCSC
UniGene Hs.156445