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FLASH GENE

Symbol

ERCC2

contributors: mct/npt/shn/pgu - updated : 03-12-2011

HGNC name	excision repair cross-complementing rodent repair deficiency, complementation group 2
HGNC id	3434

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000400 23 splicing 2568 NP_000391 - 760 - 1990 2184031 NM_001130867 12 splicing 1753 NP_001124339 60 405 - 1990 2184031

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 Endocrine neuroendocrine pituitary     highly   pancreas       highly Nervous brain       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Lymphoid/Immune lymphocyte Lymphoid/Immune natural killer

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an ATP binding site motif A (P loop)
	a catalytic domain
	an essential FeS cluster-binding domain

HOMOLOGY

interspecies	ortholog to Ercc2, Mus musculus
	ortholog to Ercc2, Rattus norvegicus
	ortholog to ercc2, Danio rerio

Homologene

FAMILY	helicase family
	RAD3/XPD subfamily

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	excision repair ATP dependent DNA helicase playing a role as a subunit of the basal transcription factor BT2/ERCC3
	involved in transcription-coupled repair (TCR) of oxidative lesions
	RNA polymerase 2 transcription factor
	plays a critical role in nucleotide excision repair (NER) and basal transcription
	with ERCC3, are central genome caretakers involved in nucleotide excision repair (NER), although their respective role within this DNA repair pathway remains difficult to delineate
	ERCC3 and ERCC2 are part of the TFIIH complex which mediates basal transcription and DNA nucleotide excision repair

CELLULAR PROCESS	nucleotide, repair, nucleotide excision repair
	nucleotide, transcription, initiation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

nucleotide-excision repair

a component	component of transcription factor IIH (TFIIH), which functions in transcription initiation and Nucleotide Excision Repair (NER)
	MMXD (MMS19-FAM96B-ERCC2) complex, is required for proper chromosome segregation, an abnormality of which could contribute to the pathogenesis in some cases of XP-D and XP-D/CS

INTERACTION

DNA

binding

RNA

small molecule	metal binding, nucleotide,
	Mg2+
	ATP binding

protein	p44 (
	Cdk-activating kinase (CAK) complex (
	Rad51 (
	RAD52 (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

XPD , COFS2

Susceptibility

to melanoma to lung cancer in light smokers to squamous cell carcinoma of the head and neck cutaneous basal cell carcinoma to acute myeloid leukemia (AML) to sporadic breast carcinomas may be associated with the progression of primary open-angle glaucoma in male patients of Pakistani origin (

Variant & Polymorphism other	exon 23 Lys increased in the melanoma
	Asp 312 Asn increase the risk of lung cancer
	SNP increasing the risk of cutaneous basal cell carcinoma
	increased risk of AML was found in individuals heterozygous for XPD 2251A>C (rs13181), and the increased risk could be attributed to C allele
	association of the XPD-Lys751Gln polymorphism with low histological grade, which is the most frequent pattern of sporadic breast carcinomas

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	TTD mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities (
	TTD mice were found to exhibit many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early greying, cachexia, infertility, and reduced life-span (