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ERCC2

GENERAL INFORMATION

Gene name

 ERCC2

Gene description

 Excision repair cross-complementation group 2

Protein class

 Cancer-related genes
Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 6
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Mixed

Protein evidence

 Evidence at protein level

Protein expression

 Nuclear and cytoplasmic expression in most tissues.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data.

Reliability score

 Approved based on 2 antibodies.
HPA038057 , CAB005375
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed

GENE INFORMATION

Gene name

 ERCC2 (HGNC Symbol)

Synonyms

 EM9, MAG, MGC102762, MGC126218, MGC126219, TFIIH, XPD

Description

 Excision repair cross-complementation group 2 (HGNC Symbol)

Entrez gene summary

 The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]

Chromosome

 19

Cytoband

 q13.32

Chromosome location (bp)

 45349837 - 45370918

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000104884 (version 83.38)

Entrez gene

 2068

UniProt

 P18074 (UniProt - Evidence at protein level)

neXtProt

 NX_P18074

Antibodypedia

 ERCC2 antibodies

PROTEIN BROWSER
ERCC2-001
ERCC2-002
ERCC2-003
ERCC2-005
ERCC2-006
ERCC2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
ERCC2-001
ENSP00000375809
ENST00000391945
P18074 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000439 [core TFIIH complex]
GO:0001666 [response to hypoxia]
GO:0001701 [in utero embryonic development]
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0004672 [protein kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005675 [holo TFIIH complex]
GO:0005737 [cytoplasm]
GO:0005819 [spindle]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006360 [transcription from RNA polymerase I promoter]
GO:0006361 [transcription initiation from RNA polymerase I promoter]
GO:0006362 [transcription elongation from RNA polymerase I promoter]
GO:0006363 [termination of RNA polymerase I transcription]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006368 [transcription elongation from RNA polymerase II promoter]
GO:0006370 [7-methylguanosine mRNA capping]
GO:0006468 [protein phosphorylation]
GO:0006915 [apoptotic process]
GO:0006979 [response to oxidative stress]
GO:0007059 [chromosome segregation]
GO:0007568 [aging]
GO:0008022 [protein C-terminus binding]
GO:0008026 [ATP-dependent helicase activity]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008283 [cell proliferation]
GO:0008353 [RNA polymerase II carboxy-terminal domain kinase activity]
GO:0009411 [response to UV]
GO:0009650 [UV protection]
GO:0009791 [post-embryonic development]
GO:0010467 [gene expression]
GO:0016032 [viral process]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0019907 [cyclin-dependent protein kinase activating kinase holoenzyme complex]
GO:0021510 [spinal cord development]
GO:0022405 [hair cycle process]
GO:0030198 [extracellular matrix organization]
GO:0030282 [bone mineralization]
GO:0032289 [central nervous system myelin formation]
GO:0032508 [DNA duplex unwinding]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0035264 [multicellular organism growth]
GO:0035315 [hair cell differentiation]
GO:0040016 [embryonic cleavage]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0043139 [5'-3' DNA helicase activity]
GO:0043249 [erythrocyte maturation]
GO:0043388 [positive regulation of DNA binding]
GO:0043588 [skin development]
GO:0044281 [small molecule metabolic process]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0048820 [hair follicle maturation]
GO:0050434 [positive regulation of viral transcription]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0060218 [hematopoietic stem cell differentiation]
GO:0070911 [global genome nucleotide-excision repair]
GO:0071817 [MMXD complex]
GO:1901990 [regulation of mitotic cell cycle phase transition]
Show all
 760 aa
86.9 kDa 		No 0
ERCC2-002
ENSP00000464887
ENST00000586131
K7EIT8 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0008026 [ATP-dependent helicase activity]
GO:0008152 [metabolic process]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0032508 [DNA duplex unwinding]
Show all
 292 aa
33.4 kDa 		No 0
ERCC2-003
ENSP00000466998
ENST00000586856
K7ENL1 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005524 [ATP binding]
GO:0032508 [DNA duplex unwinding]
Show all
 109 aa
12.7 kDa 		No 0
ERCC2-005
ENSP00000375805
ENST00000391941
A8MX75 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0006289 [nucleotide-excision repair]
GO:0008026 [ATP-dependent helicase activity]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0032508 [DNA duplex unwinding]
Show all
 706 aa
80.5 kDa 		No 0
ERCC2-006
ENSP00000431229
ENST00000485403
P18074 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
Enzymes
   ENZYME proteins
   Hydrolases
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0004672 [protein kinase activity]
GO:0005515 [protein binding]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005675 [holo TFIIH complex]
GO:0005737 [cytoplasm]
GO:0005819 [spindle]
GO:0006281 [DNA repair]
GO:0006283 [transcription-coupled nucleotide-excision repair]
GO:0006289 [nucleotide-excision repair]
GO:0006360 [transcription from RNA polymerase I promoter]
GO:0006361 [transcription initiation from RNA polymerase I promoter]
GO:0006362 [transcription elongation from RNA polymerase I promoter]
GO:0006363 [termination of RNA polymerase I transcription]
GO:0006366 [transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006368 [transcription elongation from RNA polymerase II promoter]
GO:0006370 [7-methylguanosine mRNA capping]
GO:0006468 [protein phosphorylation]
GO:0006915 [apoptotic process]
GO:0006979 [response to oxidative stress]
GO:0007059 [chromosome segregation]
GO:0008022 [protein C-terminus binding]
GO:0008026 [ATP-dependent helicase activity]
GO:0008094 [DNA-dependent ATPase activity]
GO:0008353 [RNA polymerase II carboxy-terminal domain kinase activity]
GO:0009650 [UV protection]
GO:0010467 [gene expression]
GO:0016032 [viral process]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0019907 [cyclin-dependent protein kinase activating kinase holoenzyme complex]
GO:0032508 [DNA duplex unwinding]
GO:0033683 [nucleotide-excision repair, DNA incision]
GO:0035315 [hair cell differentiation]
GO:0040029 [regulation of gene expression, epigenetic]
GO:0043139 [5'-3' DNA helicase activity]
GO:0044281 [small molecule metabolic process]
GO:0045814 [negative regulation of gene expression, epigenetic]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0047485 [protein N-terminus binding]
GO:0050434 [positive regulation of viral transcription]
GO:0051539 [4 iron, 4 sulfur cluster binding]
GO:0070911 [global genome nucleotide-excision repair]
GO:0071817 [MMXD complex]
GO:1901990 [regulation of mitotic cell cycle phase transition]
Show all
 405 aa
46.3 kDa 		No 0
ERCC2-201
ENSP00000375808
ENST00000391944
E7EVE9 [Direct mapping]
TFIIH basal transcription factor complex helicase XPD subunit
Show all
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Splicing Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003676 [nucleic acid binding]
GO:0003677 [DNA binding]
GO:0004003 [ATP-dependent DNA helicase activity]
GO:0005524 [ATP binding]
GO:0005634 [nucleus]
GO:0006139 [nucleobase-containing compound metabolic process]
GO:0008026 [ATP-dependent helicase activity]
GO:0016818 [hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides]
GO:0032508 [DNA duplex unwinding]
Show all
 682 aa
77.9 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.