ERCC2 report

I. Expression across cell types

Insufficient scRNA-seq data for expression of ERCC2 at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of ERCC2 at tissue level.

III. Associated gene sets

GO_0032508Biological processDNA duplex unwinding
GO_0006366Biological processtranscription by RNA polymerase II
GO_0048568Biological processembryonic organ development
GO_0009791Biological processpost-embryonic development
GO_0021510Biological processspinal cord development
GO_0001701Biological processin utero embryonic development
GO_0048820Biological processhair follicle maturation
GO_0043249Biological processerythrocyte maturation
GO_0007059Biological processchromosome segregation
GO_0009650Biological processUV protection
GO_0008340Biological processdetermination of adult lifespan
GO_0006357Biological processregulation of transcription by RNA polymerase II
GO_0048009Biological processinsulin-like growth factor receptor signaling pathway
GO_0006289Biological processnucleotide-excision repair
GO_0006362Biological processtranscription elongation by RNA polymerase I
GO_0030198Biological processextracellular matrix organization
GO_0035264Biological processmulticellular organism growth
GO_0035315Biological processhair cell differentiation
GO_0032289Biological processcentral nervous system myelin formation
GO_0071425Biological processhematopoietic stem cell proliferation
GO_0060218Biological processhematopoietic stem cell differentiation
GO_0001666Biological processresponse to hypoxia
GO_0072332Biological processintrinsic apoptotic signaling pathway by p53 class mediator
GO_0030282Biological processbone mineralization
GO_0006915Biological processapoptotic process
GO_0040016Biological processembryonic cleavage
GO_0006367Biological processtranscription initiation at RNA polymerase II promoter
GO_0045951Biological processpositive regulation of mitotic recombination
GO_1901990Biological processregulation of mitotic cell cycle phase transition
GO_0006979Biological processresponse to oxidative stress
GO_0000462Biological processmaturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)
GO_0006283Biological processtranscription-coupled nucleotide-excision repair
GO_0005675Cellular componenttranscription factor TFIIH holo complex
GO_0005669Cellular componenttranscription factor TFIID complex
GO_0005654Cellular componentnucleoplasm
GO_0000439Cellular componenttranscription factor TFIIH core complex
GO_0071817Cellular componentMMXD complex
GO_0070516Cellular componentCAK-ERCC2 complex
GO_0005829Cellular componentcytosol
GO_0005737Cellular componentcytoplasm
GO_0005819Cellular componentspindle
GO_0005634Cellular componentnucleus
GO_0003678Molecular functionDNA helicase activity
GO_0030674Molecular functionprotein-macromolecule adaptor activity
GO_0043139Molecular function5'-3' DNA helicase activity
GO_0046872Molecular functionmetal ion binding
GO_0005524Molecular functionATP binding
GO_0005515Molecular functionprotein binding
GO_0016887Molecular functionATP hydrolysis activity
GO_0051539Molecular function4 iron, 4 sulfur cluster binding
GO_0003684Molecular functiondamaged DNA binding

IV. Literature review

[source]
Gene nameERCC2
Protein nameGeneral transcription and DNA repair factor IIH helicase subunit XPD (EC 3.6.4.12)
TFIIH basal transcription factor complex helicase XPD subunit
ERCC excision repair 2, TFIIH core complex helicase subunit (cDNA FLJ57462, highly similar to TFIIH basal transcription factor complex helicase subunit)
ERCC excision repair 2, TFIIH core complex helicase subunit
General transcription and DNA repair factor IIH helicase subunit XPD (TFIIH subunit XPD) (EC 3.6.4.12) (Basic transcription factor 2 80 kDa subunit) (BTF2 p80) (CXPD) (DNA excision repair protein ERCC-2) (DNA repair protein complementing XP-D cells) (TFIIH basal transcription factor complex 80 kDa subunit) (TFIIH 80 kDa subunit) (TFIIH p80) (Xeroderma pigmentosum group D-complementing protein)
DNA helicase (EC 3.6.4.12)
SynonymsXPD
XPDC
DescriptionFUNCTION: ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. .

AccessionsENST00000684218.1
K7ENL1
ENST00000591309.5
A0A804HK53
B4E0F6
ENST00000682414.1 [P18074-1]
A0A1B1PFW1
A0A804HK75
ENST00000485403.6 [P18074-2]
ENST00000684458.1
ENST00000586131.6
P18074
ENST00000391945.10 [P18074-1]
A8MX75
K7EKF3
ENST00000391944.8
E7EVE9
A0A804HL97
Q2TB79
ENST00000586856.1
ENST00000391941.6
ENST00000587376.6
ENST00000684407.1
K7EIT8