| Name | excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome)) |
| Symbol | ERCC5 |
| Aliases | XPG; XPGC; ERCM2; xeroderma pigmentosum complementation group G; Excision-repair, complementing defective, in Chinese hamster,; excision repair cross-complementing rodent repair deficiency, complementation group 5 |
| Gene Product | - XPG-complementing protein
|
| Category | - Gross deletion in Prostate cancer
|
| UniGene | Hs.48576 |
| OMIM | 133530 |
| Locus | 2073 |
| Summary | Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. |
| Gene Ontology | |
| Expression | | EST (214 ESTs, 126 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| b cells (1/1) |  | 2/16734 |
| bone marrow (2/263) | | 2/38555 |
| brain (8/204) | | 17/362011 |
| cartilage (1/5) | | 1/11018 |
| colon (10/853) | | 11/165626 |
| eye (4/33) | | 6/93836 |
| germ cell (2/7) | | 4/57383 |
| head and neck (2/990) | | 4/79796 |
| heart (3/22) | | 6/55494 |
| kidney (5/86) | | 7/132968 |
| liver (1/38) | | 2/46472 |
| lung (5/312) | | 5/245386 |
| muscle (1/21) | | 2/71297 |
| nervous (3/475) | | 4/43438 |
| oral cavity (1/18) | | 4/44567 |
| ovary (2/144) | | 5/81880 |
| pancreas (3/33) | | 10/117255 |
| parathyroid (1/4) | | 2/19377 |
| placenta (1/342) | | 2/157762 |
| prostate (5/291) |  | 10/109871 |
| skin (1/31) | | 1/100815 |
| stomach (9/312) | | 13/129930 |
| testis (6/171) | | 11/117531 |
| thyroid (1/24) | | 1/6853 |
| uncharacterized tissue (39/1773) | | 65/713325 |
| uterus (8/212) | | 16/155110 |
|
| SAGE (10356559 tags, 198 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 3/145569 |
| brain (19/19) | | 61/2345468 |
| cerebellum (1/1) | | 5/153840 |
| colon (8/8) | | 33/1383947 |
| eye (5/6) | | 14/966963 |
| foreskin (1/2) | | 2/19518 |
| heart (1/1) | | 1/84357 |
| kidney (1/2) | | 1/32078 |
| lung (1/1) | | 2/178286 |
| mammary gland (14/19) | | 37/1173911 |
| muscle (2/2) | | 3/107728 |
| ovary (5/10) | | 12/324164 |
| pancreas (6/8) | | 11/342543 |
| prostate (9/13) | | 18/756970 |
| skin (2/7) | | 6/80657 |
| stomach (3/3) | | 10/364264 |
| uncharacterized tissue (15/22) | | 35/1446626 |
| vascular (3/3) | | 10/449670 |
|
|
| SNP | rs1047769 (A/G:exception); rs1323697 (A/G:exception); rs1047778 (C/A:exception); rs2104301 (A/T:exception); rs751402 (C/T:locus-region); rs9676 (T/C:mrna-utr); rs1998874 (A/G:exception); rs2146988 (C/T:locus-region); rs943245 (A/G:locus-region); rs2227311 (C/A:exception); rs2016073 (A/G:locus-region); rs2296147 (C/T:mrna-utr); rs3138581 ((CA)/11/17/19/20/21/22/23/24/25/26/27:exception); rs873601 (A/G:mrna-utr); rs1887119 (A/C:exception); rs2020915 (A/G:exception); rs17655 (C/G:exception); rs1535729 (A/C:exception); rs2307491 (C/G:exception); rs768502 (T/G:exception); rs732321 (A/C:exception); rs2093754 (A/T:exception); rs1803542 (A/C:exception); rs2094258 (G/A:locus-region); |
| Evidence | Gross deletion in Prostate cancer
|
