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FLASH GENE

Symbol

EFHC2

contributors: npt - updated : 30-06-2010

HGNC name	EF-hand domain (C-terminal) containing 2
HGNC id	26233

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	Xp11.3      Physical location : 44.007.128 - 44.202.923
Synonym name	C-terminal containing 2
	EF-hand domain
Synonym symbol(s)	FLJ22843, FLJ22601, dJ1158H2.1, DKFZp686G08235

DNA

TYPE	functioning gene
STRUCTURE	195.80 kb     15 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_025184 15 - 3269 NP_079460 - 749 - Gu (2005)

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 pharynx       highly Endocrine neuroendocrine pituitary     highly Nervous brain         Respiratory respiratory tract trachea     highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a calcium-binding domain as well as conserved domains of unknown function
	three putative EF-hand domain (Gu 2005)

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

may influence a specific measure of social cognition in women with Turner syndrome and might impact the development or function of brain structures critical for functional social competence in adulthood

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

Variant & Polymorphism SNP	QTL for social cognition in Turner syndrome

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS