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FLASH GENE

Symbol

ERCC6L2

contributors: mct - updated : 11-03-2014

HGNC name	excision repair cross-complementation group 6-like 2
HGNC id	26922

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	BMFND bone marrow failure and neurological dysfunction
Location	9q22.32      Physical location : -
Synonym name	putative repair and recombination helicase RAD26L
	stretch responsive protein 278
	chromosome 9 open reading frame 102
Synonym symbol(s)	FLJ37706, RAD26L, MGC30192, MGC43364, SR278, C9orf102
EC.number	3.6.1.-

DNA

TYPE	functioning gene
STRUCTURE	93.22 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_001010895 14 - 4666 NP_001010895 80.9 712 - 2014 24507776

EXPRESSION

Type	ubiquitous

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 mouth         Endocrine adrenal gland           parathyroid       highly Lymphoid/Immune lymph node

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal DEAH ATP-helicase domain, and a distinct 13 amino acid N-terminal sequence that harbors a putative mitochondrial targeting sequence
	a catalytic helicase C-terminal domain

HOMOLOGY

Homologene

FAMILY

SNF2/RAD54 helicase family

CATEGORY

enzyme , DNA associated

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus
text	translocate to the mitochondria and the nucleus in response to DNA damage

basic FUNCTION	implicated in DNA repair and mitochondrial function
	plays a role in the DNA-damage-response pathway
	traffics to the mitochondria and nucleus in a ROS-dependent fashion in response to DNA damage

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

BMFND

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS