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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 61
  • 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, Group B and Trichothiodystrophy 2, Photosensitive. Among its related pathways are Nucleotide excision repair and RNA Polymerase I Promoter Escape. 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

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

Genomics for ERCC3 Gene

Regulatory Elements for ERCC3 Gene

Enhancers for ERCC3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G127413 1.9 FANTOM5 Ensembl ENCODE dbSUPER 36.9 -121.1 -121068 4.3 HDGF HNRNPUL1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 FOS ERCC3 MAP3K2 SFT2D3 ENSG00000236682 AMMECR1L IWS1 PROC GC02P127390
GH02G127385 1.8 FANTOM5 ENCODE dbSUPER 38.6 -94.3 -94251 5.4 HDGF HNRNPUL1 PKNOX1 FOXA2 MLX CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ENSG00000236682 ERCC3 MAP3K2 GPR17 SFT2D3 WDR33 AMMECR1L GC02P127380
GH02G127224 1.3 Ensembl ENCODE 33.1 +67.9 67883 2.7 PKNOX1 FOXA2 SIN3A FEZF1 GATA2 CBX5 KLF7 FOS ZNF263 ZHX2 ERCC3 MAP3K2 ENSG00000236682 CYP27C1 GC02P127197
GH02G127400 1.3 Ensembl ENCODE dbSUPER 28.6 -107.7 -107669 2.8 INSM2 ARID4B GLIS2 EGR1 ZNF366 SCRT2 FOS SSRP1 SMARCA4 ZBTB33 ERCC3 MAP3K2 GC02P127390 PROC
GH02G127354 0.7 dbSUPER 48.2 -60.6 -60606 1.3 SOX5 SOX13 GATAD2A CTCF REST KLF4 RAD21 GATA3 GATA2 BCL6 ERCC3 ENSG00000236682 MAP3K2 RNU4-48P LOC105373606 LOC100506922
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERCC3 on UCSC Golden Path with GeneCards custom track

Promoters for ERCC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000122836 -24 1201 PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 SLC30A9 ZNF143

Genomic Location for ERCC3 Gene

Chromosome:
2
Start:
127,257,290 bp from pter
End:
127,294,176 bp from pter
Size:
36,887 bases
Orientation:
Minus strand

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

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERCC3 (XPB)

Domains & Families for ERCC3 Gene

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

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

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

2 Cell Signaling Technology pathways for ERCC3 Gene
1 BioSystems pathway for ERCC3 Gene
1 PharmGKB pathway for ERCC3 Gene
1 Qiagen pathway 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 --
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 --
genes like me logo Genes that share ontologies with ERCC3: view

Drugs & Compounds for ERCC3 Gene

(8) 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
Adenosine triphosphate Approved Nutra 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(2.1)

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
Organs:
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

Primer Products

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 34
  • 97.83 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC3 35
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC3 34 35
  • 90.75 (n)
dog
(Canis familiaris)
Mammalia ERCC3 34 35
  • 90.49 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC3 35
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc3 34 16 35
  • 87.43 (n)
rat
(Rattus norvegicus)
Mammalia Ercc3 34
  • 87.3 (n)
chicken
(Gallus gallus)
Aves ERCC3 34 35
  • 78.67 (n)
lizard
(Anolis carolinensis)
Reptilia ERCC3 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc3 34
  • 77.32 (n)
zebrafish
(Danio rerio)
Actinopterygii ercc3 34 35
  • 76.12 (n)
fruit fly
(Drosophila melanogaster)
Insecta hay 36 34 35
  • 65.41 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012169 34
  • 64.63 (n)
worm
(Caenorhabditis elegans)
Secernentea Y66D12A.15 36 34 35
  • 63.1 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR280W 34
  • 57.89 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSL2 34 35 37
  • 57.89 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E13025g 34
  • 57.8 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons XPB2 34
  • 58.14 (n)
soybean
(Glycine max)
eudicotyledons Gma.7265 34
rice
(Oryza sativa)
Liliopsida Os01g0691600 34
  • 59.3 (n)
Os.32672 34
barley
(Hordeum vulgare)
Liliopsida Hv.2761 34
wheat
(Triticum aestivum)
Liliopsida Ta.8806 34
bread mold
(Neurospora crassa)
Ascomycetes NCU06438 34
  • 57.43 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ptr8 34
  • 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 Sequence Context AA Info Type
rs121913045 Pathogenic, Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] 127,292,785(-) AGACT(C/T)CTTGG intron-variant, reference, missense
rs121913046 Pathogenic, Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390] 127,292,726(-) AACTA(A/C)CTGCC intron-variant, reference, missense
VAR_035942 A breast cancer sample
rs121913047 Pathogenic 127,286,772(-) CCGAG(A/C/T)GAGTC reference, synonymous-codon, stop-gained
rs121913048 Pathogenic 127,279,270(-) CTTGC(C/T)AGTTT reference, stop-gained

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)

Relevant External Links for ERCC3 Gene

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

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

Disorders for ERCC3 Gene

MalaCards: The human disease database

(18) MalaCards diseases for ERCC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ERCC3 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ERCC3

Genetic Association Database (GAD)
ERCC3
Human Genome Epidemiology (HuGE) Navigator
ERCC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC3
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. (Am. J. Hum. Genet. 1994) 3 4 22 46 64
  2. Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. (PMID: 10862089) Butkiewicz D. … Chorazy M. (Hum. Mutat. 2000) 3 4 22 64
  3. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. (PMID: 9012405) Weeda G. … Sarasin A. (Am. J. Hum. Genet. 1997) 3 4 22 64
  4. RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription. (PMID: 8202161) Guzder S.N. … Prakash S. (Nature 1994) 2 3 22 64
  5. Molecular cloning and biological characterization of the human excision repair gene ERCC-3. (PMID: 2111438) Weeda G. … Hoeijmakers J.H.J. (Mol. Cell. Biol. 1990) 3 4 22 64

Products for ERCC3 Gene

  • Addgene plasmids for ERCC3

Sources for ERCC3 Gene

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