| Gene ID | 2068 |
| Symbol | ERCC2 |
| Synonymous | COFS2|EM9|TFIIH|TTD|XPD |
| Full name | excision repair cross-complementation group 2 |
| Gene description | BTF2 p80|CXPD|DNA excision repair protein ERCC-2|DNA repair protein complementing XP-D cells|TFIIH 80 kDa subunit|TFIIH basal transcription factor complex 80 kDa subunit|TFIIH basal transcription factor complex helicase XPB subunit|TFIIH basal transcripti |
| Cytoband | 19q13.3 |
| Gene type | protein-coding |
| Synonymous | MIM:126340; HGNC:HGNC:3434; Ensembl:ENSG00000104884; HPRD:00530; Vega:OTTHUMG00000048190 |
Pathways and Diseases | Detail |
|---|---|
Pathway | Nucleotide excision repair;KEGG PATHWAY;hsa03420 |
Pathway | mRNA Processing;Reactome;REACT:1675 |
Pathway | DNA Repair;Reactome;REACT:216 |
Pathway | Transcription;Reactome;REACT:1788 |
Pathway | HIV Infection;Reactome;REACT:6185 |
Pathway | Gene Expression;Reactome;REACT:71 |
Disease | Carcinoma, Hepatocellular;GAD |
Disease | thyroid cancer;GAD |
Disease | Cancer;FunDO |
Disease | meningioma;GAD |
Disease | Multiple Myeloma;GAD |
Disease | Xeroderma pigmentosum, group D;OMIM |
Disease | hepatitis B;GAD |
Disease | Hemolytic anemia;FunDO |
Disease | lung cancer;GAD |
Disease | brain cancer;GAD |
Disease | prostate cancer;GAD |
Disease | PHARMACOGENOMIC;GAD |
Disease | Cockayne syndrome;FunDO |
Disease | chromosomal damage;GAD |
Disease | Stroke;FunDO |
Disease | Neoplasms;GAD |
Disease | benzene toxicity;GAD |
Disease | Disorders of nucleotide excision repair;KEGG DISEASE;H00403 |
Disease | Cerebrooculofacioskeletal syndrome 2;OMIM |
Disease | colorectal cancer;GAD |
Disease | esophageal cancer;GAD |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Inherited disorders of DNA repair systems;KEGG DISEASE |
Disease | CANCER;GAD |
Disease | Trichothiodystrophy;OMIM |
Disease | Liver Neoplasms;GAD |
Disease | hepatitis C;GAD |
Disease | liver cancer;GAD |
Disease | Azoospermia;FunDO |
Disease | Barrett's esophagus;FunDO |
Disease | smoking;GAD |
Disease | Xeroderma pigmentosum and trichothiodystrophy;GAD |
Disease | Peptic esophagitis;FunDO |
Sequence Information | |
|---|---|
Nucleotide Sequence | >2068 : length: 2568 TTCATGAGGGAGGCGGGTCGACCCCGCTGCACAGTCCGGCCGGCGCCATGAAGCTCAACGTGGACGGGCTCCTGGTCTACTTCCCGTACGACTACATCTACCCCGAGCAGTTCTCCTACA TGCGGGAGCTCAAACGCACGCTGGACGCCAAGGGTCATGGAGTCCTGGAGATGCCCTCAGGCACCGGGAAGACAGTATCCCTGTTGGCCCTGATCATGGCATACCAGAGAGCATATCCGC TGGAGGTGACCAAACTCATCTACTGCTCAAGAACTGTGCCAGAGATTGAGAAGGTGATTGAAGAGCTTCGAAAGTTGCTCAACTTCTATGAGAAGCAGGAGGGCGAGAAGCTGCCGTTTC TGGGACTGGCTCTGAGCTCCCGCAAAAACTTGTGTATTCACCCTGAGGTGACACCCCTGCGCTTTGGGAAGGACGTCGATGGGAAATGCCACAGCCTCACAGCCTCCTATGTGCGGGCGC AGTACCAGCATGACACCAGCCTGCCCCACTGCCGATTCTATGAGGAATTTGATGCCCATGGGCGTGAGGTGCCCCTCCCCGCTGGCATCTACAACCTGGATGACCTGAAGGCCCTGGGGC GGCGCCAGGGCTGGTGCCCATACTTCCTTGCTCGATACTCAATCCTGCATGCCAATGTGGTGGTTTATAGCTACCACTACCTCCTGGACCCCAAGATTGCAGACCTGGTGTCCAAGGAAC TGGCCCGCAAGGCCGTCGTGGTCTTCGACGAGGCCCACAACATTGACAACGTCTGCATCGACTCCATGAGCGTCAACCTCACCCGCCGGACCCTTGACCGGTGCCAGGGCAACCTGGAGA CCCTGCAGAAGACGGTGCTCAGGATCAAAGAGACAGACGAGCAGCGCCTGCGGGACGAGTACCGGCGTCTGGTGGAGGGGCTGCGGGAGGCCAGCGCCGCCCGGGAGACGGACGCCCACC TGGCCAACCCCGTGCTGCCCGACGAAGTGCTGCAGGAGGCAGTGCCTGGCTCCATCCGCACGGCCGAGCATTTCCTGGGCTTCCTGAGGCGGCTGCTGGAGTACGTGAAGTGGCGGCTGC GTGTGCAGCATGTGGTGCAGGAGAGCCCGCCCGCCTTCCTGAGCGGCCTGGCCCAGCGCGTGTGCATCCAGCGCAAGCCCCTCAGATTCTGTGCTGAACGCCTCCGGTCCCTGCTGCATA CTCTGGAGATCACCGACCTTGCTGACTTCTCCCCGCTCACCCTCCTTGCTAACTTTGCCACCCTTGTCAGCACCTACGCCAAAGGCTTCACCATCATCATCGAGCCCTTTGACGACAGAA CCCCGACCATTGCCAACCCCATCCTGCACTTCAGCTGCATGGACGCCTCGCTGGCCATCAAACCCGTATTTGAGCGTTTCCAGTCTGTCATCATCACATCTGGGACACTGTCCCCGCTGG ACATCTACCCCAAGATCCTGGACTTCCACCCCGTCACCATGGCAACCTTCACCATGACGCTGGCACGGGTCTGCCTCTGCCCTATGATCATCGGCCGTGGCAATGACCAGGTGGCCATCA GCTCCAAATTTGAGACCCGGGAGGATATTGCTGTGATCCGGAACTATGGGAACCTCCTGCTGGAGATGTCCGCTGTGGTCCCTGATGGCATCGTGGCCTTCTTCACCAGCTACCAGTACA TGGAGAGCACCGTGGCCTCCTGGTATGAGCAGGGGATCCTTGAGAACATCCAGAGGAACAAGCTGCTCTTTATTGAGACCCAGGATGGTGCCGAAACCAGTGTCGCCCTGGAGAAGTACC AGGAGGCCTGCGAGAATGGCCGCGGGGCCATCCTGCTGTCAGTGGCCCGGGGCAAAGTGTCCGAGGGAATCGACTTTGTGCACCACTACGGGCGGGCCGTCATCATGTTTGGCGTCCCCT ACGTCTACACACAGAGCCGCATTCTCAAGGCGCGGCTGGAATACCTGCGGGACCAGTTCCAGATTCGTGAGAATGACTTTCTTACCTTCGATGCCATGCGCCACGCGGCCCAGTGTGTGG GTCGGGCCATCAGGGGCAAGACGGACTACGGCCTCATGGTCTTTGCCGACAAGCGGTTTGCCCGTGGGGACAAGCGGGGGAAGCTGCCCCGCTGGATCCAGGAGCACCTCACAGATGCCA ACCTCAACCTGACCGTGGACGAGGGTGTCCAGGTGGCCAAGTACTTCCTGCGGCAGATGGCACAGCCCTTCCACCGGGAGGATCAGCTGGGCCTGTCCCTGCTCAGCCTGGAGCAGCTAG AATCAGAGGAGACGCTGAAGAGGATAGAGCAGATTGCTCAGCAGCTCTGAGTGGGGCGGGTGGGGCCATAAACGGTTCCTGGTGACTCCTGAGTCTTGCCTGGCCCTGGTTCCCAGCGGC GGTGGTGCTAGAAGGTCTTATGAAGTCAGGTGACATTTCTCACTGTCACGTCCACAGCCTTTAATCGCAGGAGAAGGCAGCTATCCACCAGGTACCCAGAGGCAAGGGGGGGCCAGGAGA TGATAGACCCCCTCTCACCCCACCAGCCCATCCCTCCTGCACTGTTCC |
Protein Sequence | >2068 : length: 760 MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEPFDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL |