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FLASH GENE

Symbol

CD247

contributors: mct/pgu - updated : 01-09-2017

HGNC name	CD247 molecule
HGNC id	1677

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IMD25 Immunodeficiency 25
Location	1q24.2      Physical location : 167.399.877 - 167.487.847
Synonym name	cell differentiation antigen CD3Z, zeta polypeptide
	T-cell receptor T3 zeta chain
	CD3Z antigen, zeta polypeptide (TiT3 complex)
	CD247 antigen
	T-cell surface glycoprotein CD3 zeta chain
	T-cell antigen receptor complex, zeta subunit of CD3
Synonym symbol(s)	CD3H, CD3Q, TCRZ, CD3-ZETA, CD3Z, T3Z

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	87.97 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000734 8 - 1687 NP_000725 - 163 - 2006 16337488 NM_198053 8 - 1690 NP_932170 - 164 - 2006 16337488

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       moderately Lymphoid/Immune spleen       highly   thymus       highly Reproductive male system prostate     moderately

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune T cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a short extracellular domain
	a cytoplasmic tail with three immunoreceptor tyrosine based activation motifs (ITAM)
	three ITAM domains
	highly evolutionarily conserved CXXC motif
	a short extracellular stalk connecting its Ig-like domains to its transmembrane regions

HOMOLOGY

interspecies	ortholog to murine Cd3z
	homolog to rattus Cd3z
	homolog to C.elegans C32E8.3

Homologene

FAMILY

CD3Z/FCER1G family

CATEGORY

antigen , receptor membrane

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	type I membrane protein

basic FUNCTION	playing an important role in coupling antigen recognition to several intracellular signal-transduction pathways
	playing a role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering
	playing a necessary role for the development and function of T cells, and participating in intrathymic T-cell differentiation
	functions as an amplification module in the TCR signaling cascade and is essential for assembly and surface expression of the TCR/CD3 complex
	the stalks of the CD3G, CD3E, CD3D, CD247 may be critical in transmitting part of the activation signal directly through the membrane
	modulates blood pressure by altering T-lymphocyte infiltration in the kidney
	CD247 and FCER1G are integral membrane proteins that have subsequently been found to be obligate signaling adaptors for many immunoreceptors in different cell types
	association of the adaptor modules FCER1G or CD247 with FCGR3A not only is required for progression of this receptor through the secretory pathway and cell surface expression but also protects the FCGR3A protein from degradation
	LAT, like CD247 and ZAP70, plays likely a role in neurogenesis and that perturbation of this pathway may lead to neurodevelopmental phenotypes

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

immunity/defense

PATHWAY

metabolism

signaling

signal transduction

a component	constituent after pre T cell antigen receptor complex
	component of the T-cell receptor-CD3 complex

INTERACTION

DNA

RNA

small molecule

protein	binding to LY95 and LY94
	interacting with ZAP70
	interacting with LAPTM5 involved in CD247 degradation, illustrating a unique mechanism for the control of surface TCR expression and T cell activation
	binding SHC1 (nonphosphorylated CD247 can recruit SHC1 in advance to prepare for the instant needs for SHC1 on TCR stimulation)
	expression of the FCGR3A depends on a noncovalent association with the signaling dimers FCER1G and/or CD247
	FCGR3A requires association with adaptor modules for cell surface expression but shows no preference for assembly with either CD247 or FCER1G

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMD25

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       in primary T-cells immunodeficiency tumoral germinal mutation       in primary T-cells immunodeficiency constitutional     --over   in patients with aplastic anemia (AA)

Susceptibility

to systemic lupus erythematosus to systemic sclerosis to type 1 diabetes mellitus (T1D) and autoimmune thyroid disease (AITD)

Variant & Polymorphism SNP , other	polymorphisms in the CD3Z gene influence risk of systemic lupus erythematosus
	SNP rs2056626 increasing the risk of systemic sclerosis
	association between T1D/AITD and several variants in CD247

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS