Ercc2 ERCC excision repair 2, TFIIH core complex helicase subunit [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Ercc2provided by RGD
Official Full Name: ERCC excision repair 2, TFIIH core complex helicase subunitprovided by RGD
Primary source: RGD:1309109
See related: Ensembl:ENSRNOG00000017753 AllianceGenome:RGD:1309109
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: Predicted to enable several functions, including 5'-3' DNA helicase activity; protein C-terminus binding activity; and protein N-terminus binding activity. Involved in embryonic organ development and response to hypoxia. Part of transcription factor TFIIH core complex. Biomarker of asphyxia neonatorum. Human ortholog(s) of this gene implicated in several diseases, including acoustic neuroma; acquired immunodeficiency syndrome; carcinoma (multiple); hematologic cancer (multiple); and xeroderma pigmentosum (multiple). Orthologous to human ERCC2 (ERCC excision repair 2, TFIIH core complex helicase subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in Thymus (RPKM 72.5), Kidney (RPKM 61.6) and 9 other tissues See more
Orthologs: human mouse all
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Genomic context

Location:: 1q21

Exon count:: 23

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	1	NC_086019.1 (88161342..88175102)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	1	NC_051336.1 (79033342..79047102)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	1	NC_005100.4 (80293574..80307334)

Chromosome 1 - NC_086019.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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General gene information

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Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables 5'-3' DNA helicase activity	ISO Inferred from Sequence Orthology more info
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables DNA helicase activity	IBA Inferred from Biological aspect of Ancestor more info
enables damaged DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in DNA duplex unwinding	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within DNA repair	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within UV protection	ISO Inferred from Sequence Orthology more info
involved_in apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within bone mineralization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within central nervous system myelin formation	ISO Inferred from Sequence Orthology more info
involved_in chromosome segregation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of adult lifespan	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within embryonic cleavage	ISO Inferred from Sequence Orthology more info
involved_in embryonic organ development	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within erythrocyte maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within extracellular matrix organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair cell differentiation	ISO Inferred from Sequence Orthology more info
involved_in hair cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair cycle process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle maturation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hematopoietic stem cell proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within in utero embryonic development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within insulin-like growth factor receptor signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within intrinsic apoptotic signaling pathway by p53 class mediator	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within post-embryonic development	ISO Inferred from Sequence Orthology more info
involved_in regulation of mitotic cell cycle phase transition	ISO Inferred from Sequence Orthology more info
involved_in regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to UV	ISO Inferred from Sequence Orthology more info
involved_in response to hypoxia	IEP Inferred from Expression Pattern more info	PubMed
acts_upstream_of_or_within response to oxidative stress	ISO Inferred from Sequence Orthology more info
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within ribosomal small subunit biogenesis	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skin development	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within spinal cord development	ISO Inferred from Sequence Orthology more info
involved_in transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within transcription elongation by RNA polymerase I	ISO Inferred from Sequence Orthology more info
involved_in transcription initiation at RNA polymerase II promoter	IEA Inferred from Electronic Annotation more info
involved_in transcription initiation at RNA polymerase II promoter	ISO Inferred from Sequence Orthology more info
involved_in transcription-coupled nucleotide-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of CAK-ERCC2 complex	ISO Inferred from Sequence Orthology more info
part_of MMXD complex	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in spindle	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIID complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH core complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIH core complex	ISO Inferred from Sequence Orthology more info
part_of transcription factor TFIIH holo complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: general transcription and DNA repair factor IIH helicase subunit XPD

Names: TFIIH basal transcription factor complex helicase XPD subunit; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; rCG54110-like

NP_001166280.1

EC 3.6.4.12

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001172809.1 → NP_001166280.1 general transcription and DNA repair factor IIH helicase subunit XPD

See identical proteins and their annotated locations for NP_001166280.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000001

UniProtKB/TrEMBL

A0A8I6AH26, A6J8M9, D3ZEG9

Related

ENSRNOP00000024247.4, ENSRNOT00000024246.8

Conserved Domains (4) summary

smart00488
Location:8 → 280

DEXDc2; DEAD-like helicases superfamily

smart00491
Location:542 → 686

HELICc2; helicase superfamily c-terminal domain

TIGR00604
Location:7 → 708

rad3; DNA repair helicase (rad3)

pfam06777
Location:272 → 413

HBB; Helical and beta-bridge domain