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Aliases for ERCC3 Gene

Aliases for ERCC3 Gene

  • ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 3 2 3
  • TFIIH Basal Transcription Factor Complex 89 KDa Subunit 3 4
  • Xeroderma Pigmentosum Group B-Complementing Protein 3 4
  • Excision Repair Cross-Complementation Group 3 2 3
  • Basic Transcription Factor 2 89 KDa Subunit 3 4
  • DNA Repair Protein Complementing XP-B Cells 3 4
  • DNA Excision Repair Protein ERCC-3 3 4
  • TFIIH 89 KDa Subunit 3 4
  • TFIIH P89 3 4
  • BTF2 P89 3 4
  • XPB 3 4
  • TFIIH Basal Transcription Factor Complex Helicase XPB Subunit 3
  • Xeroderma Pigmentosum, Complementation Group B 3
  • Xeroderma Pigmentosum Group B Complementing 2
  • DNA Repair Helicase 3
  • EC 3.6.4.12 4
  • EC 3.6.1 56
  • TFIIH 3
  • GTF2H 3
  • RAD25 3
  • BTF2 3
  • TTD2 3
  • XPBC 4

External Ids for ERCC3 Gene

Previous GeneCards Identifiers for ERCC3 Gene

  • GC02M125313
  • GC02M125941
  • GC02M127919
  • GC02M128108
  • GC02M127731
  • GC02M128014
  • GC02M120322

Summaries for ERCC3 Gene

Entrez Gene Summary for ERCC3 Gene

  • This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

GeneCards Summary for ERCC3 Gene

ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit) is a Protein Coding gene. Diseases associated with ERCC3 include Xeroderma Pigmentosum, Complementation Group B and Trichothiodystrophy 2, Photosensitive. Among its related pathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and Formation of HIV elongation complex in the absence of HIV Tat. Gene Ontology (GO) annotations related to this gene include protein kinase activity and hydrolase activity.

UniProtKB/Swiss-Prot for ERCC3 Gene

  • ATP-dependent 3-5 DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage.

Gene Wiki entry for ERCC3 Gene

Additional gene information for ERCC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC3 Gene

Genomics for ERCC3 Gene

GeneHancer (GH) Regulatory Elements for ERCC3 Gene

Promoters and enhancers for ERCC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02I127293 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 562.8 -0.1 -81 2.2 PKNOX1 SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ERCC3 POLR2D SAP130 AMMECR1L WDR33 GC02M127297
GH02I127385 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE dbSUPER 48.5 -94.3 -94251 5.4 HDGF PKNOX1 FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZNF2 ZBTB7B ENSG00000236682 MAP3K2 ERCC3 AMMECR1L GPR17 WDR33 ENSG00000231731 SFT2D3 GC02P127390 GC02P127379
GH02I127413 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 36.9 -121.1 -121068 4.3 HDGF CLOCK FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ERCC3 MAP3K2 SFT2D3 ENSG00000236682 AMMECR1L IWS1 PROC GC02P127390 GC02P127379
GH02I127770 Enhancer 1 Ensembl ENCODE 58 -477.5 -477505 2 ZFP64 ZNF213 ZNF354C ZNF138 KLF7 FOS ZNF202 ZNF654 ZBTB11 ZC3H11A AMMECR1L WDR33 ERCC3 ENSG00000231731 MAP3K2 UGGT1 ENSG00000260634 SAP130 POLR2D PIR38298
GH02I127215 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 34.1 +75.5 75508 5.7 MAX SIN3A ZNF384 ZNF507 ZNF335 CTBP1 GATA3 GLIS2 POLR2A PATZ1 ENSG00000236682 ERCC3 WDR33 AMMECR1L MAP3K2 ENSG00000231731 SAP130 CYP27C1 GC02P127197
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ERCC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERCC3 gene promoter:

Genomic Locations for ERCC3 Gene

Genomic Locations for ERCC3 Gene
chr2:127,257,290-127,294,176
(GRCh38/hg38)
Size:
36,887 bases
Orientation:
Minus strand
chr2:128,014,866-128,051,752
(GRCh37/hg19)

Genomic View for ERCC3 Gene

Genes around ERCC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC3 Gene

Proteins for ERCC3 Gene

  • Protein details for ERCC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19447-ERCC3_HUMAN
    Recommended name:
    TFIIH basal transcription factor complex helicase XPB subunit
    Protein Accession:
    P19447
    Secondary Accessions:
    • Q53QM0

    Protein attributes for ERCC3 Gene

    Size:
    782 amino acids
    Molecular mass:
    89278 Da
    Quaternary structure:
    • One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed 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.

    Three dimensional structures from OCA and Proteopedia for ERCC3 Gene

neXtProt entry for ERCC3 Gene

Selected DME Specific Peptides for ERCC3 Gene

P19447:
  • DQGYSFKVI
  • NPDINIDLKP
  • QFKMWST
  • KPYIYGPT
  • DKIIVFADN
  • KMFGNGRARSG
  • NAFFYSLVS
  • QEAVPSAAGKQV
  • DLDAEEEVV
  • EEEEEETQTVSFE
  • CTVSYGKVKLVLK
  • SRPLWVAPDGHIFLEAFSPVYKYAQDFLVAI
  • DLNFLIGPK
  • HEYKLTAYSLYAAVSVGLQT
  • EYDFRND
  • TELITET
  • RPYQEKSL
  • VQCAEVWCPMSPEFYREY
  • IVLPCGAGK
  • QEMIEELQKRCI
  • QICRFTSD
  • VSVEQWK
  • KLSKTGVP
  • KRHYEDEE
  • SGADDTVYMEYHSSR
  • GSRRQEAQRLGR
  • GTMSSMSGADD
  • TIFISKVGDTS
  • MNPNKFRAC

Post-translational modifications for ERCC3 Gene

  • Ubiquitination at Lys222 and Lys601
  • Modification sites at PhosphoSitePlus

Domains & Families for ERCC3 Gene

Gene Families for ERCC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ERCC3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P19447

UniProtKB/Swiss-Prot:

ERCC3_HUMAN :
  • Belongs to the helicase family. RAD25/XPB subfamily.
Family:
  • Belongs to the helicase family. RAD25/XPB subfamily.
genes like me logo Genes that share domains with ERCC3: view

Function for ERCC3 Gene

Molecular function for ERCC3 Gene

GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells (DNA repair helicase),complementation group 3,yeast RAD25 homolog,D discoidum REPB homolog,with mutations decreasing GTF2H activity in XPB patients
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + H(2)O = ADP + phosphate.
UniProtKB/Swiss-Prot Function:
ATP-dependent 3-5 DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage.

Enzyme Numbers (IUBMB) for ERCC3 Gene

Phenotypes From GWAS Catalog for ERCC3 Gene

Gene Ontology (GO) - Molecular Function for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding TAS 8663148
GO:0003684 damaged DNA binding NAS 2167179
GO:0004003 ATP-dependent DNA helicase activity IEA --
GO:0004386 helicase activity TAS --
GO:0004672 contributes_to protein kinase activity IDA 9852112
genes like me logo Genes that share ontologies with ERCC3: view
genes like me logo Genes that share phenotypes with ERCC3: view

Human Phenotype Ontology for ERCC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC3 Gene

MGI Knock Outs for ERCC3:

Animal Model Products

CRISPR Products

miRNA for ERCC3 Gene

miRTarBase miRNAs that target ERCC3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERCC3

No data available for Transcription Factor Targets and HOMER Transcription for ERCC3 Gene

Localization for ERCC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC3 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC3 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000439 core TFIIH complex IEA --
GO:0005634 nucleus TAS 8663148
GO:0005654 nucleoplasm IDA,TAS --
GO:0005669 transcription factor TFIID complex IDA 27193682
GO:0005675 holo TFIIH complex TAS 7663514
genes like me logo Genes that share ontologies with ERCC3: view

Pathways & Interactions for ERCC3 Gene

SuperPathways for ERCC3 Gene

SuperPathway Contained pathways
1 Formation of HIV elongation complex in the absence of HIV Tat
2 RNA Polymerase II Transcription Initiation And Promoter Clearance
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
5 HIV Life Cycle
.45
genes like me logo Genes that share pathways with ERCC3: view

Pathways by source for ERCC3 Gene

1 Qiagen pathway for ERCC3 Gene
2 Cell Signaling Technology pathways for ERCC3 Gene

SIGNOR curated interactions for ERCC3 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ERCC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000717 nucleotide-excision repair, DNA duplex unwinding TAS,IMP --
GO:0001666 response to hypoxia IEA --
GO:0006265 DNA topological change IMP 8663148
GO:0006281 DNA repair IMP 2167179
GO:0006283 transcription-coupled nucleotide-excision repair TAS,IDA --
genes like me logo Genes that share ontologies with ERCC3: view

Drugs & Compounds for ERCC3 Gene

(7) Drugs for ERCC3 Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
ATP Investigational Nutra Agonist 0
Platinum compounds Pharma 0

(3) Additional Compounds for ERCC3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with ERCC3: view

Transcripts for ERCC3 Gene

Unigene Clusters for ERCC3 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for ERCC3

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC3 Gene

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: - - - - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13:
SP14:
SP15: - - - - - - - - -
SP16: - - - - - - - - - - - - -
SP17: - - - - - -
SP18: - - - - - -
SP19:
SP20: - - - - - -
SP21: - - -
SP22: - -
SP23:
SP24: - -
SP25:

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: - - -
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - - -
SP12:
SP13: - -
SP14: - -
SP15:
SP16: - - - - - - -
SP17:
SP18:
SP19:
SP20:
SP21:
SP22: - -
SP23:
SP24:
SP25: - - -

Relevant External Links for ERCC3 Gene

GeneLoc Exon Structure for
ERCC3
ECgene alternative splicing isoforms for
ERCC3

Expression for ERCC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ERCC3 Gene

Protein differential expression in normal tissues from HIPED for ERCC3 Gene

This gene is overexpressed in Plasma (21.5), Breast (14.1), Spleen (6.2), and Prostate (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC3 Gene



Protein tissue co-expression partners for ERCC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERCC3 Gene:

ERCC3

SOURCE GeneReport for Unigene cluster for ERCC3 Gene:

Hs.469872

Evidence on tissue expression from TISSUES for ERCC3 Gene

  • Nervous system(4.7)
  • Liver(4.2)
  • Kidney(2.3)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • bronchus
  • chest wall
  • lung
Abdomen:
  • intestine
  • large intestine
  • small intestine
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
  • white blood cell
genes like me logo Genes that share expression patterns with ERCC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC3 Gene

Orthologs for ERCC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC3 33
  • 97.83 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC3 34
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC3 33 34
  • 90.75 (n)
dog
(Canis familiaris)
Mammalia ERCC3 33 34
  • 90.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC3 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc3 33 16 34
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Ercc3 33
  • 87.3 (n)
chicken
(Gallus gallus)
Aves ERCC3 33 34
  • 78.67 (n)
lizard
(Anolis carolinensis)
Reptilia ERCC3 34
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc3 33
  • 77.32 (n)
zebrafish
(Danio rerio)
Actinopterygii ercc3 33 34
  • 76.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta hay 35 33 34
  • 65.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012169 33
  • 64.63 (n)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.15 35 33 34
  • 63.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR280W 33
  • 57.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL2 33 34 36
  • 57.89 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13025g 33
  • 57.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons XPB2 33
  • 58.14 (n)
soybean
(Glycine max)
eudicotyledons Gma.7265 33
rice
(Oryza sativa)
Liliopsida Os01g0691600 33
  • 59.3 (n)
Os.32672 33
barley
(Hordeum vulgare)
Liliopsida Hv.2761 33
wheat
(Triticum aestivum)
Liliopsida Ta.8806 33
bread mold
(Neurospora crassa)
Ascomycetes NCU06438 33
  • 57.43 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr8 33
  • 56.83 (n)
Species where no ortholog for ERCC3 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for ERCC3 Gene

ENSEMBL:
Gene Tree for ERCC3 (if available)
TreeFam:
Gene Tree for ERCC3 (if available)

Paralogs for ERCC3 Gene

Pseudogenes.org Pseudogenes for ERCC3 Gene

genes like me logo Genes that share paralogs with ERCC3: view

No data available for Paralogs for ERCC3 Gene

Variants for ERCC3 Gene

Sequence variations from dbSNP and Humsavar for ERCC3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs114508982 uncertain-significance, Xeroderma pigmentosum 127,259,407(-) C/T coding_sequence_variant, synonymous_variant
rs114710997 uncertain-significance, Xeroderma pigmentosum 127,259,401(-) C/A/T coding_sequence_variant, synonymous_variant
rs121913045 pathogenic, Xeroderma pigmentosum, complementation group b, Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] 127,292,785(-) A/G coding_sequence_variant, intron_variant, missense_variant
rs121913046 pathogenic, Trichothiodystrophy 2, photosensitive, Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390] 127,292,726(-) T/G coding_sequence_variant, intron_variant, missense_variant
rs121913047 pathogenic, Xeroderma pigmentosum, complementation group b 127,286,772(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ERCC3 Gene

Variant ID Type Subtype PubMed ID
dgv4066n100 CNV gain 25217958
esv2762811 CNV loss 21179565
esv3592356 CNV gain 21293372

Variation tolerance for ERCC3 Gene

Residual Variation Intolerance Score: 2.25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.00; 36.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ERCC3 Gene

Human Gene Mutation Database (HGMD)
ERCC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC3 Gene

Disorders for ERCC3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ERCC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

ERCC3_HUMAN
  • Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. {ECO:0000269 PubMed:9012405}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269 PubMed:10447254, ECO:0000269 PubMed:16947863, ECO:0000269 PubMed:8304337}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ERCC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ERCC3: view

No data available for Genatlas for ERCC3 Gene

Publications for ERCC3 Gene

  1. Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3. (PMID: 8304337) Vermeulen W … Weeda G (American journal of human genetics 1994) 3 4 22 44 58
  2. Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. (PMID: 10862089) Butkiewicz D … Chorazy M (Human mutation 2000) 3 4 22 58
  3. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PMID: 9012405) Weeda G … Sarasin A (American journal of human genetics 1997) 3 4 22 58
  4. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PMID: 8202161) Guzder SN … Prakash S (Nature 1994) 2 3 22 58
  5. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PMID: 2111438) Weeda G … Hoeijmakers JH (Molecular and cellular biology 1990) 3 4 22 58

Products for ERCC3 Gene

  • Addgene plasmids for ERCC3

Sources for ERCC3 Gene

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