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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2071
Gene name Gene Name - the full gene name approved by the HGNC.	ERCC excision repair 3, TFIIH core complex helicase subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERCC3
Synonyms (NCBI Gene) Gene synonyms aliases	BTF2, GTF2H, RAD25, Ssl2, TFIIH, TTD2, XPB
Disease Acronyms (UniProt) Disease acronyms from UniProt database	TTD2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q14.3
Summary Summary of gene provided in NCBI Entrez 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 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 assay, qRT-PCR	19074876
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western blot	21672525
MIRT004849	hsa-miR-192-5p	Luciferase reporter assay, qRT-PCR, Western 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(59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000112	Component	Nucleotide-excision repair factor 3 complex	IBA	21873635
GO:0000439	Component	Transcription factor TFIIH core complex	IDA	8692841, 8692842
GO:0000717	Process	Nucleotide-excision repair, DNA duplex unwinding	IMP	17466626
GO:0000717	Process	Nucleotide-excision repair, DNA duplex unwinding	TAS
GO:0003677	Function	DNA binding	TAS	8663148
GO:0003684	Function	Damaged DNA binding	NAS	2167179
GO:0004386	Function	Helicase activity	TAS
GO:0005515	Function	Protein binding	IPI	7663514, 7926747, 8652557, 8692842, 9173976, 10734143, 16669699, 17438371, 19172752, 19934020, 21988832, 25416956, 26496610, 27193682, 28514442, 31515488, 32296183
GO:0005524	Function	ATP binding	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	21873635
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	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	IMP	17509950
GO:0006293	Process	Nucleotide-excision repair, preincision complex stabilization	TAS
GO:0006294	Process	Nucleotide-excision repair, preincision complex assembly	TAS
GO:0006295	Process	Nucleotide-excision repair, DNA incision, 3'-to lesion	TAS
GO:0006296	Process	Nucleotide-excision repair, DNA incision, 5'-to lesion	TAS
GO:0006361	Process	Transcription initiation from RNA polymerase I promoter	TAS
GO:0006362	Process	Transcription elongation from RNA polymerase I promoter	TAS
GO:0006363	Process	Termination of RNA polymerase I transcription	TAS
GO:0006366	Process	Transcription by RNA polymerase II	IDA	8692841, 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 from RNA polymerase II promoter	IBA	21873635
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0006368	Process	Transcription elongation from RNA polymerase II promoter	TAS
GO:0006370	Process	7-methylguanosine mRNA capping	TAS
GO:0006915	Process	Apoptotic process	IMP	8675009
GO:0006979	Process	Response to oxidative stress	IMP	17614221
GO:0008022	Function	Protein C-terminus binding	IPI	10801852, 17466626
GO:0008104	Process	Protein localization	IMP	17509950
GO:0008134	Function	Transcription factor binding	IBA	21873635
GO:0008134	Function	Transcription factor binding	IDA	9173976
GO:0009411	Process	Response to UV	IBA	21873635
GO:0009411	Process	Response to UV	IMP	17509950
GO:0016032	Process	Viral process	IEA
GO:0016887	Function	ATPase activity	IDA	17466626
GO:0033683	Process	Nucleotide-excision repair, DNA incision	IBA	21873635
GO:0033683	Process	Nucleotide-excision repair, DNA incision	IMP	8692841, 17466626
GO:0033683	Process	Nucleotide-excision repair, DNA incision	TAS
GO:0035315	Process	Hair cell differentiation	IBA	21873635
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	21873635
GO:0043138	Function	3'-5' DNA helicase activity	IDA	17466626
GO:0043138	Function	3'-5' DNA helicase activity	IMP	8663148
GO:0047485	Function	Protein N-terminus binding	IPI	8652557
GO:0048568	Process	Embryonic organ development	IBA	21873635
GO:0070911	Process	Global genome nucleotide-excision repair	TAS
GO:0097550	Component	Transcription preinitiation complex	IBA	21873635
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560

MIM	HGNC	e!Ensembl
133510	3435	ENSG00000163161

Protein

UniProt ID

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

Show/Hide Causal Diseases (28)

Disease term	Disease name	dbSNP ID	References
Causal
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966 View all (89 more)
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Carcinoma	Basal cell carcinoma, Squamous cell carcinoma, Carcinoma, Basal Cell	rs121912654, rs555607708, rs786202962, rs1564055259
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377 View all (900 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Developmental regression	Developmental regression	rs1224421127
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Ichthyosis	Ichthyoses	rs199766569, rs587776996, rs587777262, rs863223405, rs370031870, rs1569044747, rs200806519
Keratitis	Keratitis	rs587776571
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)
Melanoma	melanoma, Cutaneous Melanoma	rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340 View all (64 more)
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Microphthalmos	Microphthalmos, Bilateral microphthalmos	rs794726862, rs1329285216
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)
Seizure	Generalized seizures	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061 View all (179 more)
Trichothiodystrophy	Trichothiodystrophy, Trichothiodystrophy Syndromes, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE	rs137853117, rs587776531, rs587776532, rs878854339, rs121434364, rs121434365, rs121913046, rs121913047, rs121913018, rs121913020, rs121913021, rs121913026, rs144564120, rs794726863, rs768342562 View all (10 more)	12393803, 9012405
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775
Xeroderma pigmentosum	Xeroderma pigmentosum, group B, Xeroderma pigmentosum	rs794729654, rs794729655, rs752088918, rs121965088, rs794729656, rs794729657, rs754532049, rs1200172747, rs104894132, rs104894133, rs104894134, rs1587755557, rs2127773185, rs2127773120, rs121908562 View all (169 more)	16947863, 8304337, 24105368, 2167179, 26884178, 19114557, 8408834, 10447254
Xeroderma pigmentosum-cockayne syndrome complex	Xeroderma pigmentosum-Cockayne syndrome complex	rs1242579404

Show/Hide Unknown Diseases (3)

Disease term	Disease name	Source
Unknown
Xeroderma Pigmentosum	xeroderma pigmentosum group B, xeroderma pigmentosum	GenCC
Breast Carcinoma	hereditary breast carcinoma	GenCC
Xeroderma Pigmentosum-Cockayne Syndrome Complex	xeroderma pigmentosum-Cockayne syndrome complex	GenCC

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining
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)