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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

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 (