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FLASH GENE

Symbol

SHC4

contributors: mct - updated : 19-03-2009

HGNC name	SHC (Src homology 2 domain containing) family, member 4
HGNC id	16743

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	139.71 kb     12 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_203349 12 - 4556 NP_976224 68.6 630 - 2007 17452444

EXPRESSION

Type

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 Nervous brain       highly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two phosphotyrosine-interaction modules,
	an N-terminal phosphotyrosine binding (PTB) domain
	a C-terminal Src homology 2 domain

HOMOLOGY

Homologene

FAMILY

SHC family proteins

CATEGORY

signaling

SUBCELLULAR LOCALIZATION	plasma membrane
text	coexpressed with MUSK in the postsynaptic region of the NMJ, neuromuscular junction

basic FUNCTION

may mediate a specific aspect of signaling downstream of the MUSK receptor

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

can associate via its PTB domain with the phosphorylated muscle-specific kinase (MUSK) receptor tyrosine kinase and undergo tyrosine phosphorylation downstream of activated MUSK

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   at the transition from radial growth phase to vertical growth phase and metastatic melanomas, when tumor cells acquire migratory competence and invasive potential

Susceptibility

Variant & Polymorphism

Candidate gene	specific marker of metastatic melanomas (Fagiani 2007)
	might represent a new drugable target for the treatment of metastatic disease
Marker
Therapy target

ANIMAL & CELL MODELS