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FLASH GENE

Symbol

EFCAB7

contributors: mct - updated : 07-02-2020

HGNC name	EF-hand calcium binding domain 7
HGNC id	29379

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	1p31.3      Physical location : 63.989.012 - 64.038.363
Synonym name	KIAA1799 protein
Synonym symbol(s)	KIAA1799, RP4-534K7.1, DKFZp666D225

DNA

TYPE	functioning gene
STRUCTURE	62.08 kb     14 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_032437 14 - 2178 NP_115813 - 629 - 2014 24582806

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 Endocrine neuroendocrine pituitary       Nervous nerve       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

EF-hand domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton,microtubule

basic FUNCTION

EFCAB7 and IQCE are positive regulators of HH signaling

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

complex between two ciliary proteins, EFCAB7 and IQCE, which positively regulates the HH pathway

INTERACTION

DNA

RNA

small molecule

protein

EFCAB7 is a possible modifier gene in EVC and EVC2 and its related disorders

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS