Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2071
Gene name	ERCC excision repair 3, TFIIH core complex helicase subunit
Gene symbol	ERCC3
Synonyms (NCBI Gene)	BTF2GTF2HRAD25Ssl2TFIIHTTD2XPB
Chromosome	2
Chromosome location	2q14.3
Summary	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 ass

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs4150521	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, not-provided	Coding sequence variant, missense variant
rs34295337	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, intron variant
rs121913045	A>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121913046	T>G	Pathogenic	Intron variant, coding sequence variant, missense variant
rs121913047	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs121913048	G>A	Pathogenic	Stop gained, coding sequence variant
rs138385061	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs587778281	->T	Pathogenic, not-provided	Coding sequence variant, frameshift variant
rs866379139	AA>-	Pathogenic	Coding sequence variant, stop gained
rs1302552127	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1404157087	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1404293670	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1558964705	C>T	Pathogenic	Splice donor variant

Show/Hide all (33)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCR	19074876
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assayqRT-PCRWestern blot	21672525
MIRT024493	hsa-miR-215-5p	Microarray	19074876
MIRT004849	hsa-miR-192-5p	Reporter assay;Microarray;Other	19074876
MIRT045169	hsa-miR-186-5p	CLASH	23622248
MIRT968386	hsa-miR-10a	CLIP-seq
MIRT968387	hsa-miR-10b	CLIP-seq
MIRT968388	hsa-miR-1252	CLIP-seq
MIRT968389	hsa-miR-204	CLIP-seq
MIRT968390	hsa-miR-211	CLIP-seq
MIRT968391	hsa-miR-3065-3p	CLIP-seq
MIRT968392	hsa-miR-3190	CLIP-seq
MIRT968393	hsa-miR-3195	CLIP-seq
MIRT968394	hsa-miR-3202	CLIP-seq
MIRT968395	hsa-miR-4480	CLIP-seq
MIRT968396	hsa-miR-4533	CLIP-seq
MIRT968397	hsa-miR-4635	CLIP-seq
MIRT968398	hsa-miR-583	CLIP-seq
MIRT968399	hsa-miR-887	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525064	hsa-miR-3163	CLIP-seq
MIRT2525065	hsa-miR-340	CLIP-seq
MIRT2525066	hsa-miR-4279	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525067	hsa-miR-548aa	CLIP-seq
MIRT2525068	hsa-miR-561	CLIP-seq
MIRT1987029	hsa-miR-4286	CLIP-seq
MIRT2525068	hsa-miR-561	CLIP-seq

Show/Hide all (53)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000112	Component	Nucleotide-excision repair factor 3 complex	IBA
GO:0000166	Function	Nucleotide binding	IEA
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841, 8692842
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8663148
GO:0003678	Function	DNA helicase activity	IEA
GO:0003684	Function	Damaged DNA binding	NAS	2167179
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 7926747, 8652557, 8692842, 9173976, 10734143, 10801852, 16669699, 17438371, 17466626, 19172752, 19934020, 21988832, 25416956, 26496610, 27193682, 28514442, 31515488, 32296183, 33961781, 34591642
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	8663148
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005669	Component	Transcription factor TFIID complex	IDA	27193682
GO:0005675	Component	Transcription factor TFIIH holo complex	IBA
GO:0005675	Component	Transcription factor TFIIH holo complex	IDA	9852112
GO:0005675	Component	Transcription factor TFIIH holo complex	TAS	7663514
GO:0006265	Process	DNA topological change	IMP	8663148
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	2167179
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	8663148
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	TAS
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IMP	8692841, 17466626, 17509950
GO:0006366	Process	Transcription by RNA polymerase II	IDA	9852112
GO:0006366	Process	Transcription by RNA polymerase II	IMP	8663148
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IBA
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IDA	8692841
GO:0006367	Process	Transcription initiation at RNA polymerase II promoter	IEA
GO:0006368	Process	Transcription elongation by RNA polymerase II	TAS
GO:0006915	Process	Apoptotic process	IMP	8675009
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IMP	17614221
GO:0008104	Process	Intracellular protein localization	IMP	17509950
GO:0009411	Process	Response to UV	IMP	17509950
GO:0009650	Process	UV protection	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	17466626
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0035315	Process	Hair cell differentiation	IBA
GO:0035315	Process	Hair cell differentiation	IMP	11335038
GO:0043065	Process	Positive regulation of apoptotic process	IDA	16914395
GO:0043138	Function	3'-5' DNA helicase activity	IBA
GO:0043138	Function	3'-5' DNA helicase activity	IDA	17466626
GO:0043138	Function	3'-5' DNA helicase activity	IMP	8663148
GO:0043138	Function	3'-5' DNA helicase activity	TAS
GO:0048568	Process	Embryonic organ development	IBA
GO:0097550	Component	Transcription preinitiation complex	IBA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560
GO:1990841	Function	Promoter-specific chromatin binding	IEA

MIM	HGNC	e!Ensembl
133510	3435	ENSG00000163161

P19447

Protein name

General transcription and DNA repair factor IIH helicase/translocase subunit XPB (TFIIH subunit XPB) (EC 5.6.2.4) (Basic transcription factor 2 89 kDa subunit) (BTF2 p89) (DNA 3'-5' helicase/translocase XPB) (DNA excision repair protein ERCC-3) (DNA repai

Protein function

ATP-dependent 3'-5' DNA helicase/translocase (PubMed:17466626, PubMed:27193682, PubMed:33902107, PubMed:8465201, PubMed:8663148). Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity (PubMed:271936

PDB

4ERN , 5IVW , 5IY6 , 5IY7 , 5IY8 , 5IY9 , 5OF4 , 6NMI , 6O9L , 6O9M , 6RO4 , 7AD8 , 7EGB , 7EGC , 7ENA , 7ENC , 7LBM , 7NVR , 7NVV , 7NVW , 7NVX , 7NVY , 7NVZ , 7NW0 , 8BVW , 8BYQ , 8EBS , 8EBT , 8EBU , 8EBV , 8EBW , 8EBX , 8EBY , 8GXQ , 8GXS , 8WAK , 8WAL , 8WAN , 8WAO , 8WAP , 8WAQ , 8WAR , 8WAS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13625	Helicase_C_3	76 → 203	Helicase conserved C-terminal domain	Domain
PF04851	ResIII	313 → 472	Type III restriction enzyme, res subunit	Family
PF16203	ERCC3_RAD25_C	496 → 742	ERCC3/RAD25/XPB C-terminal helicase	Domain

Sequence

MGKRDRADRDKKKSRKRHYEDEEDDEEDAPGNDPQEAVPSAAGKQVDESGTKVDEYGAKD
YRLQMPLKDDHTSRPLWVAPDGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKLTA
YSLYAAVSVGLQTSDITEYLRKLSKTGVPDGIMQFIKLCTVSYGKVKLVLKHNRYFVESC
HPDVIQHLLQDPVIRECRLRNSEGEATELITETFTSKSAISKTAESSGGPSTSRVTDPQG
KSDIPMDLFDFYEQMDKDEEEEEETQTVSFEVKQEMIEELQKRCIHLEYPLLAEYDFRND
SVNPDINIDLKPTAVLRPYQEKSLRKMFGNGRARSGVIVLPCGAGKSLVGVTAACTVRKR
CLVLGNSAVSVEQWKAQFKMWSTIDDSQICRFTSDAKDKPIGCSVAISTYSMLGHTTKRS
WEAERVMEWLKTQEWGLMILDEVHTIPAKMFRRVLTIVQAHCKLGLTATLVREDDKIVDL
NFLIGPKLYEANWMELQNNGYIAKVQCAEVWCPMSPEFYREYVAIKTKKRILLYTMNPNK
FRACQFLIKFHERRNDKIIVFADNVFALKEYAIRLNKPYIYGPTSQGERMQILQNFKHNP
KINTIFISKVGDTSFDLPEANVLIQISSHGGSRRQEAQRLGRVLRAKKGMVAEEYNAFFY
SLVSQDTQEMAYSTKRQRFLVDQGYSFKVITKLAGMEEEDLAFSTKEEQQQLLQKVLAAT
DLDAEEEVVAGEFGSRSSQASRRFGTMSSMSGADDTVYMEYHSSRSKAPSKHVHPLFKRF
RK

Sequence length

782

Interactions

View interactions

	KEGG		Reactome
	Basal transcription factors Nucleotide excision repair		Formation of RNA Pol II elongation complex Formation of the Early Elongation Complex Formation of Incision Complex in GG-NER Dual Incision in GG-NER RNA Polymerase II Pre-transcription Events Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER TP53 Regulates Transcription of DNA Repair Genes mRNA Capping RNA Polymerase I Transcription Initiation RNA Polymerase I Promoter Escape RNA Polymerase II Promoter Escape RNA Polymerase II Transcription Pre-Initiation And Promoter Opening RNA Polymerase I Transcription Termination RNA Polymerase II Transcription Initiation RNA Polymerase II Transcription Elongation RNA Polymerase II Transcription Initiation And Promoter Clearance RNA Pol II CTD phosphorylation and interaction with CE

272

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ERCC3-related disorder	Likely pathogenic; Pathogenic	rs587778281, rs34295337, rs774261851	RCV004757130 RCV004757184 RCV004757280
Hereditary cancer-predisposing syndrome	Likely pathogenic; Pathogenic	rs34295337	RCV005251109
Ovarian cancer	Likely pathogenic	rs1237725504	RCV003154789
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs56116802	RCV005925406
Trichothiodystrophy 2, photosensitive	Likely pathogenic; Pathogenic	rs753182861, rs1055129064, rs778865255, rs56116802, rs587778281, rs768687646, rs763315862, rs1434876636, rs755760603, rs34295337, rs121913045, rs121913046, rs121913047, rs774261851, rs1302552127, rs150954655 View all (1 more)	RCV002476722 RCV002478003 RCV002489864 RCV005025553 RCV002477310 RCV002507014 RCV005025533 RCV005019216 RCV005025908 RCV002487171 RCV005025066 RCV000018052 RCV004541009 RCV005029432 RCV005029555 RCV005014332
Xeroderma pigmentosum	Likely pathogenic; Pathogenic	rs753182861, rs778865255, rs56116802, rs587778281, rs1420747225, rs1434876636, rs34295337, rs1558964705, rs138385061	RCV002256755 RCV003226493 RCV002266076 RCV002255296 RCV002257080 RCV003317611 RCV001175535 RCV003226162 RCV004800578
Xeroderma pigmentosum group B	Likely pathogenic; Pathogenic	rs753182861, rs1055129064, rs778865255, rs56116802, rs587778281, rs768687646, rs763315862, rs1434876636, rs755760603, rs34295337, rs200733704, rs121913045, rs121913047, rs866379139, rs121913048 View all (8 more)	RCV002476722 RCV002478003 RCV002489864 RCV005025553 RCV000018055 RCV002507014 RCV003136379 RCV002472162 RCV005025908 RCV000986812 RCV000018050 RCV000018051 RCV000018053 RCV000018054 RCV000018056 RCV000018057 RCV004595407 RCV000770819 RCV005029432 RCV000986806 RCV000986811 RCV005029555 RCV001523810

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs4150413	RCV005917334
Cervical cancer	Benign; -	rs4150413, rs1341969763	RCV005917335 RCV005931749
Cholangiocarcinoma	Benign	rs4150403	RCV005918265
Familial cancer of breast	Uncertain significance	rs1191350523	RCV005923986
Gastric cancer	Benign	rs4150403, rs4150413	RCV005918263 RCV005917336
Lung cancer	Benign	rs4150413	RCV005917339
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs4150413, rs200653729	RCV005917337 RCV005930443
Uterine carcinosarcoma	Benign	rs4150403	RCV005918264
Uterine corpus endometrial carcinoma	Uncertain significance	rs115481013	RCV005924082
Uveal melanoma	Benign	rs4150403	RCV005918262

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenomatous Polyposis Coli	Associate	39519399
Adrenoleukodystrophy	Associate	9012405
Bloom Syndrome	Associate	16288211
Breast Neoplasms	Associate	27655433, 32427313, 39742368
Carcinogenesis	Associate	19840190
Carcinoma Hepatocellular	Associate	26967386
Carcinoma Pancreatic Ductal	Associate	35819261
Cockayne Syndrome	Associate	10064601, 10786832, 11443545, 16246722, 19840190, 21965540, 27004399, 28902838, 34096589, 8294433, 8663148, 9012405, 9422774, 9774388
Colorectal Neoplasms	Associate	29568775
DNA Virus Infections	Associate	10064601
Drug Related Side Effects and Adverse Reactions	Associate	19840190, 35247903
Embolic Stroke	Associate	37248226
Fanconi Anemia	Associate	28423363
Hamartoma Syndrome Multiple	Associate	30894545
Head and Neck Neoplasms	Associate	23720401
Helicobacter Infections	Stimulate	11302954
Hereditary Breast and Ovarian Cancer Syndrome	Associate	30306255
HIV Infections	Associate	27681137
Immunologic Deficiency Syndromes	Associate	8194528
Inflammation	Associate	32024775
Lymphoma B Cell Marginal Zone	Associate	15507668
Lymphoma Follicular	Associate	17255358
Lymphoma Large B Cell Diffuse	Associate	17255358
Lymphoma Non Hodgkin	Associate	20813000
Margins of Excision	Associate	17466626, 27004399, 39523403
Melanoma	Associate	23940574
Multiple Myeloma	Associate	28588253
Neoplasms	Associate	28902838, 30894545, 31794323, 32427313, 32543350, 33199492, 39742368
Neoplastic Syndromes Hereditary	Associate	20208140, 28050010
Non Muscle Invasive Bladder Neoplasms	Associate	35833951
Pancreatic Neoplasms	Associate	35819261
Persistent Mullerian duct syndrome	Associate	39742368
Placenta Diseases	Associate	22234153
Pregnancy Complications	Associate	22234153
Skin Neoplasms	Associate	8194528, 9427533
Smoke Inhalation Injury	Associate	23720401
Squamous Cell Carcinoma of Head and Neck	Inhibit	11900225, 29528139
Squamous Cell Carcinoma of Head and Neck	Associate	36118674
Stomach Neoplasms	Associate	27340861
Trichothiodystrophy Syndromes	Associate	10064601, 18579452, 22234153, 25290684, 25620205, 28902838, 30580289, 9012405, 9422774
Urticaria Solar	Associate	23940574
UV Sensitive Syndrome	Associate	11443545, 27004399
Williams Syndrome	Associate	16288211
Xeroderma Pigmentosum	Associate	10064601, 11027286, 17466626, 17509950, 18579452, 20208140, 21388382, 23623389, 25620205, 26874523, 27004399, 28902838, 31838380, 8194528, 8663148, 8675009, 9351836, 9422774, 9557707 View all (4 more)
Xeroderma Pigmentosum B Cockayne Syndrome	Associate	25620205, 30894545
Xeroderma Pigmentosum Complementation Group B	Associate	26681190, 8294433, 8663148
Xeroderma Pigmentosum Complementation Group F	Associate	26681190

ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit)