ERCC3 Gene
protein-coding GIFtS: 70
GCID: GC02M128014
|
|
excision repair cross-complementing rodent repair deficiency,...
| |
Aliases
for ERCC3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Excision Repair Cross-Complementing Rodent Repair Deficiency,Complementation Group 31 2 | | DNA Repair Protein Complementing XP-B Cells2 3 | | XPB1 2 3 5 | | TFIIH 89 KDa Subunit2 3 | | BTF21 2 | | TFIIH Basal Transcription Factor Complex 89 KDa Subunit2 3 | | GTF2H1 2 | | TFIIH P892 3 | | RAD251 2 | | TFIIH Basal Transcription Factor Complex Helicase XPB Subunit2 | | TFIIH1 2 | | Xeroderma Pigmentosum, Complementation Group B2 | | Basic Transcription Factor 2 89 KDa Subunit2 3 | | EC 3.6.4.123 | | Xeroderma Pigmentosum Group B-Complementing Protein2 3 | | XPBC3 | | BTF2 P892 3 | | EC 3.6.18 | | DNA Excision Repair Protein ERCC-32 3 | | |
Export aliases for ERCC3 gene to outside databasesPrevious GC identifers: GC02M125313 GC02M125941 GC02M127919 GC02M128108 GC02M127731 GC02M120322 |
Summaries
for ERCC3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ERCC3:
ERCC3 is an ATP-dependent DNA helicase that functions in nucleotide excision repair and complements xerodermapigmentosum group B mutations. It also is the 89 kDa subunit of basal transcription factor 2 (TFIIH) and thusfunctions in class II transcription. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved innucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts byopening DNA either around the RNA transcription start site or the DNA damage
Gene Wiki entry for ERCC3 (XPB)
|
Genomic Views
for ERCC3 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022135.16
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ERCC3 gene promoter:
E2F-4 E2F-3a Spz1 E2F-5 p53 E2F-2 CREB E2F-1 E2F deltaCREB
Other transcription factors
Search SABiosciences Chromatin IP Primers for ERCC3
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC3 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2q21 Ensembl cytogenetic band: 2q14.3 HGNC cytogenetic band: 2q21ERCC3 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M128014: view genomic region
(about GC identifiers)
Start:
|
128,014,866 bp from pter |
End:
|
128,051,752 bp from pter |
Size:
|
36,887 bases |
Orientation:
|
minus strand |
|
Proteins
for ERCC3 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447 (See
protein sequence)Recommended Name: TFIIH basal transcription factor complex helicase XPB subunit Size: 782 amino acids; 89278 Da
Subunit: One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complexcomposed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. Interacts with PUF60.Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2
Subcellular location: Nucleus
1 PDB 3D structure from  and Proteopedia  for ERCC3:4ERN (3D)
Secondary accessions: Q53QM0Explore the universe of human proteins at neXtProt for ERCC3: NX_P19447
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P19447
4/29 DME Specific Peptides for ERCC3 (P19447) (see all 29)
ERCC3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_000113.1
ENSEMBL proteins: ENSP00000415335 ENSP00000285398 ENSP00000390888 ENSP00000408901 ENSP00000444796 Reactome Protein details: P19447
Human Recombinant Protein Products:
Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table
ERCC3 for ontologies About GeneDecksing
ERCC3 Antibody Products:
Assay Products for ERCC3: |
Protein
Domains /
Families
for ERCC3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ERCC3 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P19447ProtoNet protein and cluster: P19447 1 Blocks protein family: IPB001161 Xeroderma pigmentosum group B protein signature
UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447Similarity: Belongs to the helicase family. RAD25/XPB subfamilySimilarity: Contains 1 helicase ATP-binding domainSimilarity: Contains 1 helicase C-terminal domain |
Function
for ERCC3 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447Function: ATP-dependent 3'-5' DNA helicase, component of the core-TFIIH basal transcription factor, involved innucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts byopening DNA either around the RNA transcription start site or the DNA damageCatalytic activity: ATP + H(2)O = ADP + phosphate Genatlas biochemistry entry for ERCC3:excision repair cross-complementing rodent repair defect in CHO cells (DNA repair helicase),complementation group3,yeast RAD25 homolog,D discoidum REPB homolog,with mutations decreasing GTF2H activity in XPB patients
Enzyme Numbers (IUBMB): EC 3.6.12 EC 3.6.4.121
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: ERCC3 (NM_000122) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3 |
Gene Ontology (GO): 5/16 molecular function terms (GO ID links to tree view) (see all 16): About this table
ERCC3 for ontologies About GeneDecksing
3 GenomeRNAi human phenotypes for ERCC3:
Animal Models:
11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Ercc3):
ERCC3 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ERCC3 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Formation of RNA Pol II elongation complex | | | 2 | RNA Polymerase I Chain Elongation | | | 3 | Global Genomic NER (GG-NER) | | | 4 | HIV Infection | | | 5 | Nucleotide Excision Repair | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for ERCC3
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ERCC3
3 
Cell Signaling Technology (CST) Pathways for ERCC3
2  GeneGo (Thomson Reuters) Pathways for ERCC3
1  BioSystems Pathway for ERCC3
5/46 
Reactome Pathways for ERCC3 (see all 46)
2 
Kegg Pathways (Kegg details for ERCC3):
ERCC3 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ERCC3
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/138 Interacting proteins for ERCC3 (P194471, 2, 3 ENSP000002853984) via UniProtKB, MINT, STRING, and/or I2D (see all 138)About this table
Gene Ontology (GO): 5/31 biological process terms (GO ID links to tree view) (see all 31): About this table
ERCC3 for ontologies About GeneDecksing
|
Drugs & Compounds
for ERCC3 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
ERCC3 for compounds About GeneDecksing
 Browse Tocris compounds for ERCC3
6 Novoseek chemical compound relationships for ERCC3 gene About this table
Search CenterWatch for drugs/clinical trials and news about ERCC3
|
Transcripts
for ERCC3 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ERCC3 gene: NM_000122.1 Unigene Cluster for ERCC3: Excision repair cross-complementing rodent repair deficiency, complementation group 3 Hs.469872 [show with all ESTs]Unigene Representative Sequence: AK12746910 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000426778(uc002tof.1) ENST00000285398(uc002toe.1 uc002toh.1 uc010yzh.1)
ENST00000491292 ENST00000445889 ENST00000494464(uc010flx.1) ENST00000456257
ENST00000460485 ENST00000462306(uc010fly.3) ENST00000490062 ENST00000493187(uc002tog.1)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ERCC3 (NM_000122) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ERCC3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC3 |
Additional cDNA sequence: AK091500.1 AK095557.1 AK126697.1 AK127469.1 AK222465.1 AK290474.1 AK300250.1 AK307338.1 AK309405.1 BC008820.2 M31899.1 20 DOTS entries: DT.100798024 DT.316961 DT.92440532 DT.100798012 DT.100697311 DT.121016666 DT.100798025 DT.121016641 DT.100798014 DT.100720316 DT.100798023 DT.121016588 DT.121016643 DT.95305911 DT.121016637 DT.95150136 DT.95173028 DT.97852982 DT.86850901 DT.91750167 24/323 AceView cDNA sequences (see all 323): NM_000122 BM783775 BM552465 AI076193 CF125280 BM711174 BM783073 BM761907 CB129030 AK091500 BX345504 CA487487 BM835385 AI222871 CO247173 BP379549 AL527680 BM910389 BX324539 BM839876 BG394618 CR612390 CD369543 BP351207
GeneLoc Exon Structure
5/25 Alternative Splicing Database (ASD) splice patterns (SP) for ERCC3 (see all 25) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | · | 6d | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | - | | - | | - | | | | | | | | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | - | | - | | - | | | | - | | - | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | - | | - | | - | | - | | | | | | - | | - | | | | | | | | - | | - | | - | | | | - | | - | | | | | |
| ExUns: | 9c | · | 9d | · | 9e | · | 9f | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19a | · | 19b | · | 19c | ^ | 20 | ^ | 21a | · | 21b |
|---|
|
| SP1: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | - | | | | | | | | |
| SP2: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | - | | | | | | | | |
| SP3: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | - | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | - | | | | - | | | | | | | | |
| SP5: | | | | | - | | - | | - | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for ERCC3
|
Expression
for ERCC3 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ERCC3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TACACCCGCT
About this image
See ERCC3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ERCC3
SOURCE GeneReport for Unigene cluster: Hs.469872
SABiosciences Expression via Pathway-Focused PCR Arrays including ERCC3:
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ERCC3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3 |
Orthologs
for ERCC3 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ERCC3 gene from 10/39 species (see all 39) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Ercc31 , 5 |
excision repair cross-complementing rodent repair deficiency, more1, 5 |
87.43(n)1
95.91(a)1 |
|
18 (17.97 cM)5
138721 NM_133658.11 NP_598419.11
322403005 |
chicken
(Gallus gallus) |
Aves |
ERCC31 |
excision repair cross-complementing rodent repair deficiency, more |
78.69(n)
91.7(a) |
|
424226 NM_001006523.1 NP_001006523.1 |
lizard
(Anolis carolinensis) |
Reptilia |
ERCC36 |
-- |
91(a) |
1 ↔ 1 |
GL343344.1(819032-841705) |
African clawed frog
(Xenopus laevis) |
Amphibia |
BJ085418.12 |
-- |
83.41(n) |
|
BJ085418.1 |
zebrafish
(Danio rerio) |
Actinopterygii |
BC045400.12 |
-- |
77.56(n) |
|
BC045400.1 |
fruit fly
(Drosophila melanogaster) |
Insecta |
hay1 , 3 |
transcription initiation from Pol II
promoter more3
haywire1 |
68(a)3
64.64(n)1
71.02(a)1 |
|
3 67E53
392021 NM_001144459.21 NP_001137931.11 |
worm
(Caenorhabditis elegans) |
Secernentea |
Y66D12A.151 , 3 |
Protein Y66D12A.151 |
63(a)3
62.89(n)1
66.8(a)1 |
|
III(11598328-11606086)3
1765841 NM_067086.21 NP_499487.11 |
baker's yeast
(Saccharomyces cerevisiae) |
Saccharomycetes |
SSL2(YIL143C)4
SSL21 |
Component of the holoenzyme form of RNA polymerase more4
Ssl2p1 |
58.32(n)1
59.14(a)1 |
|
9(83041-80510)4
8546631, 4 NP_012123.11, 4 |
thale cress
(Arabidopsis thaliana) |
eudicotyledons |
XPB21 |
DNA repair helicase XPB2 |
56.94(n)
57.81(a) |
|
834138 NM_123501.2 NP_568591.1 |
rice
(Oryza sativa) |
Liliopsida |
Os.326722 |
Oryza sativa (japonica cultivar-group) cDNA cloneJ more |
76.01(n) |
|
AK103297.1 |
ENSEMBL Gene Tree for ERCC3 (if available)
TreeFam Gene Tree for ERCC3 (if available) |
Paralogs
for ERCC3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ERCC3 gene
ERCC3 for paralogs About GeneDecksing
2 Pseudogenes.org Pseudogenes for ERCC3
PGOHUM00000238419 PGOHUM00000245280
|
Genomic Variants
for ERCC3 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ERCC3 (128014866 - 128051752 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ERCC3: --
Human Gene Mutation Database (HGMD): ERCC3
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC3 |
|
Disorders
/ Diseases
for ERCC3 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ERCC3 for disorders About GeneDecksing
OMIM gene information: 133510
OMIM disorders: 610651 601675
UniProtKB/Swiss-Prot: ERCC3_HUMAN, P19447
Defects in ERCC3 are the cause of xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]; alsoknown as xeroderma pigmentosum II (XP2) or XP group B (XPB) or xeroderma pigmentosum group B combined with Cockaynesyndrome (XP-B/CS). Xeroderma pigmentosum is an autosomal recessive pigmentary skin disorder characterized by solarhypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in somecases, neurological abnormalities. Some XP-B patients present features of Cockayne syndrome, including dwarfism,sensorineural deafness, microcephaly, mental retardation, pigmentary retinopathy, ataxia, decreased nerve conductionvelocities Defects in ERCC3 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:601675]. TTDP is an autosomalrecessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impairedsexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER)defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity ofthe ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype.There are no reports of skin cancer associated with TTDP
20/34  diseases for ERCC3 (see all 34): About MalaCardsxeroderma pigmentosum, group b xeroderma pigmentosum xeroderma pigmentosum, group c photosensitive trichthiodystrophy
cockayne syndrome pigmentary retinopathy autosomal recessive disease sporadic breast cancer
bloom syndrome epithelial ovarian cancer hepatitis b skin cancer
ovarian cancer dwarfism ichthyosis down syndrome
multiple sclerosis hepatitis c microcephaly lung cancer
3 diseases from the University of Copenhagen DISEASES database for ERCC3:Cockayne syndrome Xeroderma pigmentosum Photosensitive trichothiodystrophy 10/19 Novoseek disease relationships for ERCC3 gene (see all 19) About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| trichothiodystrophy |
96.6 |
21 |
11062469 (1), 12221129 (1), 19008953 (1), 9422774 (1) (see all 17) |
| cockayne syndrome |
95.3 |
26 |
16947863 (2), 12221129 (1), 1916809 (1), 8663148 (1) (see all 22) |
| xeroderma pigmentosum |
94.5 |
63 |
16947863 (3), 1454518 (2), 11027286 (2), 11077043 (2) (see all 47) |
| group b cockayne syndrome |
80.6 |
1 |
11077043 (1) |
| group a cockayne syndrome |
75.5 |
1 |
9774388 (1) |
| xeroderma pigmentosum, complementation group d |
70.3 |
1 |
15982307 (1) |
| genetic disorder |
64.8 |
8 |
20429618 (3), 15354295 (1), 17156731 (1), 7613092 (1) (see all 6) |
| hair disorder |
54.9 |
1 |
9651581 (1) |
| skin cancer |
53.1 |
6 |
18470933 (2), 18817897 (1) |
| skin tumor |
14.7 |
1 |
9427533 (1) |
GeneTests: ERCC3
Xeroderma Pigmentosum
Genetic Association Database (GAD): ERCC3
Human Genome Epidemiology (HuGE) Navigator: ERCC3 (19 documents)
Export disorders for ERCC3 gene to outside databases
|
Publications
for ERCC3 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ERCC3 gene, integrated from 9 sources (see all 289):
(articles sorted by number of sources associating them with ERCC3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (PubMed id 8304337)1, 2, 4, 9 Vermeulen W.... Weeda G. (1994)
- RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PubMed id 8202161)1, 3, 9 Guzder S.N....Prakash S. (1994)
- Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. (PubMed id 10862089)1, 2, 9 Butkiewicz D.... Chorazy M. (2000)
- Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PubMed id 2111438)1, 2, 9 Weeda G.... Hoeijmakers J.H.J. (1990)
- A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PubMed id 9012405)1, 2, 9 Weeda G.... Sarasin A. (1997)
- Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). (PubMed id 8157004)1, 2, 9 van Vuuren A.J.... Egly J.-M. (1994)
- MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity. (PubMed id 19106100)1, 2 Liu L....Nakao M. (2009)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer. (PubMed id 12865926)1, 4 Mort R....Melton D.W. (2003)
- Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. (PubMed id 10024882)1, 2 Tirode F.... Egly J.-M. (1999)
|
External Searches for ERCC3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ERCC3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ERCC3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ERCC3 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ERCC3 | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for ERCC3 | Genetics and Cytogenetics in Oncology and Haematology | | Allelic variations of the XP genes | http://www.xpmutations.org/ | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ERCC3 | | NIEHS-SNPs | http://egp.gs.washington.edu/data/ercc3/ |
|
| | |
About This Section
| Patent Information for ERCC3 gene:
Search GeneIP for patents involving ERCC3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ERCC3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
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 | |
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| | |  | OriGene Antibodies for ERCC3 | | OriGene shRNA RFP for ERCC3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ERCC3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ERCC3 | | | OriGene Protein Over-expression Lysate for ERCC3 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ERCC3 | | OriGene 3'-UTR Clone for ERCC3 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ERCC3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for ERCC3 | | OriGene Custom Protein Services for ERCC3 | | | OriGene Custom Immunoassay Development | | |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ERCC3 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ERCC3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ERCC3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ERCC3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ERCC3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ERCC3 |
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| | Antibodies & Assays for ERCC3 (XPB) |
| | | | Search Tocris compounds for ERCC3 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ERCC3 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ERCC3 |
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