| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2068 |
Name | ERCC2 |
Synonym | COFS2|EM9|TTD|XPD;excision repair cross-complementing rodent repair deficiency, complementation group 2;ERCC2;excision repair cross-complementing rodent repair deficiency, complementation group 2 |
Definition | 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 XPD subunit|TFIIH basal transcripti |
Position | 19q13.3 |
Gene Type | protein-coding |
Pathways and Diseases | |
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 |
External Links | |
Links to Entrez Gene | 2068 |
Links to all GeneRIF Items | 2068 |
Links to iHOP | 2068 |
Sequence Information | |
Nucleotide Sequence | >2068 : length: 2283 atgaagctcaacgtggacgggctcctggtctacttcccgtacgactacatctaccccgag cagttctcctacatgcgggagctcaaacgcacgctggacgccaagggtcatggagtcctg gagatgccctcaggcaccgggaagacagtatccctgttggccctgatcatggcataccag agagcatatccgctggaggtgaccaaactcatctactgctcaagaactgtgccagagatt gagaaggtgattgaagagcttcgaaagttgctcaacttctatgagaagcaggagggcgag aagctgccgtttctgggactggctctgagctcccgcaaaaacttgtgtattcaccctgag gtgacacccctgcgctttgggaaggacgtcgatgggaaatgccacagcctcacagcctcc tatgtgcgggcgcagtaccagcatgacaccagcctgccccactgccgattctatgaggaa tttgatgcccatgggcgtgaggtgcccctccccgctggcatctacaacctggatgacctg aaggccctggggcggcgccagggctggtgcccatacttccttgctcgatactcaatcctg catgccaatgtggtggtttatagctaccactacctcctggaccccaagattgcagacctg gtgtccaaggaactggcccgcaaggccgtcgtggtcttcgacgaggcccacaacattgac aacgtctgcatcgactccatgagcgtcaacctcacccgccggacccttgaccggtgccag ggcaacctggagaccctgcagaagacggtgctcaggatcaaagagacagacgagcagcgc ctgcgggacgagtaccggcgtctggtggaggggctgcgggaggccagcgccgcccgggag acggacgcccacctggccaaccccgtgctgcccgacgaagtgctgcaggaggcagtgcct ggctccatccgcacggccgagcatttcctgggcttcctgaggcggctgctggagtacgtg aagtggcggctgcgtgtgcagcatgtggtgcaggagagcccgcccgccttcctgagcggc ctggcccagcgcgtgtgcatccagcgcaagcccctcagattctgtgctgaacgcctccgg tccctgctgcatactctggagatcaccgaccttgctgacttctccccgctcaccctcctt gctaactttgccacccttgtcagcacctacgccaaaggcttcaccatcatcatcgagccc tttgacgacagaaccccgaccattgccaaccccatcctgcacttcagctgcatggacgcc tcgctggccatcaaacccgtatttgagcgtttccagtctgtcatcatcacatctgggaca ctgtccccgctggacatctaccccaagatcctggacttccaccccgtcaccatggcaacc ttcaccatgacgctggcacgggtctgcctctgccctatgatcatcggccgtggcaatgac caggtggccatcagctccaaatttgagacccgggaggatattgctgtgatccggaactat gggaacctcctgctggagatgtccgctgtggtccctgatggcatcgtggccttcttcacc agctaccagtacatggagagcaccgtggcctcctggtatgagcaggggatccttgagaac atccagaggaacaagctgctctttattgagacccaggatggtgccgaaaccagtgtcgcc ctggagaagtaccaggaggcctgcgagaatggccgcggggccatcctgctgtcagtggcc cggggcaaagtgtccgagggaatcgactttgtgcaccactacgggcgggccgtcatcatg tttggcgtcccctacgtctacacacagagccgcattctcaaggcgcggctggaatacctg cgggaccagttccagattcgtgagaatgactttcttaccttcgatgccatgcgccacgcg gcccagtgtgtgggtcgggccatcaggggcaagacggactacggcctcatggtctttgcc gacaagcggtttgcccgtggggacaagcgggggaagctgccccgctggatccaggagcac ctcacagatgccaacctcaacctgaccgtggacgagggtgtccaggtggccaagtacttc ctgcggcagatggcacagcccttccaccgggaggatcagctgggcctgtccctgctcagc ctggagcagctagaatcagaggagacgctgaagaggatagagcagattgctcagcagctc tga |
Protein Sequence | >2068 : length: 760 MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQ RAYPLEVTKLIYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPE VTPLRFGKDVDGKCHSLTASYVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDL KALGRRQGWCPYFLARYSILHANVVVYSYHYLLDPKIADLVSKELARKAVVVFDEAHNID NVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQRLRDEYRRLVEGLREASAARE TDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVVQESPPAFLSG LAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMAT FTMTLARVCLCPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFT SYQYMESTVASWYEQGILENIQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVA RGKVSEGIDFVHHYGRAVIMFGVPYVYTQSRILKARLEYLRDQFQIRENDFLTFDAMRHA AQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEHLTDANLNLTVDEGVQVAKYF LRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL |