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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	7508
Gene name Gene Name - the full gene name approved by the HGNC.	XPC complex subunit, DNA damage recognition and repair factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	XPC
Synonyms (NCBI Gene) Gene synonyms aliases	RAD4, XP3, XPCC, p125
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p25.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a key component of the XPC complex, which plays an important role in the early steps of global genome nucleotide excision repair (NER). The encoded protein is important for damage sensing and DNA binding, and shows a pr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs2228001	G>C,T	Benign, likely-benign, drug-response	Non coding transcript variant, coding sequence variant, missense variant
rs121965088	G>A	Pathogenic	Non coding transcript variant, stop gained, intron variant, coding sequence variant
rs201940931	T>C,G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs373519125	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, non coding transcript variant, stop gained
rs374117852	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs745679643	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs746250060	T>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs752030576	CT>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs752088918	AT>-	Conflicting-interpretations-of-pathogenicity, pathogenic	5 prime UTR variant, non coding transcript variant, coding sequence variant, frameshift variant
rs754197041	C>A,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs754532049	CA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant
rs755825264	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant, stop gained
rs757958943	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs764321665	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs764480429	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs767569346	G>A,C,T	Pathogenic	Synonymous variant, non coding transcript variant, intron variant, stop gained, coding sequence variant
rs794729654	TT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs794729655	A>C	Pathogenic	Splice donor variant, intron variant
rs794729656	A>G,T	Pathogenic	Intron variant
rs794729657	T>C,G	Pathogenic	Intron variant
rs867461743	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869025275	C>T	Likely-pathogenic	Splice acceptor variant, non coding transcript variant
rs975121308	C>A,T	Likely-pathogenic	Splice donor variant
rs1208223013	->C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1228981894	CT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs1260189637	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs1326646197	C>G	Likely-pathogenic	Splice acceptor variant
rs1330667099	CACT>-	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, frameshift variant
rs1402162002	TC>-	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, frameshift variant
rs1450238352	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1553605023	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605497	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553605655	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553605761	->T	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553605795	AG>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605805	->A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605813	TTTAT>-	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553605871	->G	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553605894	T>C	Likely-pathogenic	Splice acceptor variant
rs1553605973	->A	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553606767	->A	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553606979	GT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553607144	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs1553607419	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1553607744	C>T	Likely-pathogenic	Splice donor variant
rs1553607773	G>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1559374923	C>G	Pathogenic	Splice donor variant, intron variant
rs1574963068	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1574972784	AA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, intron variant

Show/Hide all(255)

miRTarBase ID	miRNA	Experiments	Reference
MIRT020495	hsa-miR-155-5p	Proteomics	18668040
MIRT050279	hsa-miR-25-3p	CLASH	23622248
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496097	hsa-miR-141	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT1496105	hsa-miR-200a	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT1496108	hsa-miR-298	CLIP-seq
MIRT1496109	hsa-miR-3143	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT1496113	hsa-miR-325	CLIP-seq
MIRT1496114	hsa-miR-3612	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT1496123	hsa-miR-4266	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496128	hsa-miR-4456	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT1496131	hsa-miR-4637	CLIP-seq
MIRT1496132	hsa-miR-4666-3p	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT1496134	hsa-miR-4695-5p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496138	hsa-miR-4775	CLIP-seq
MIRT1496139	hsa-miR-4779	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT1496143	hsa-miR-541	CLIP-seq
MIRT1496144	hsa-miR-543	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496146	hsa-miR-590-3p	CLIP-seq
MIRT1496147	hsa-miR-601	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT1496149	hsa-miR-628-3p	CLIP-seq
MIRT1496150	hsa-miR-650	CLIP-seq
MIRT1496151	hsa-miR-654-5p	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT1496154	hsa-miR-1262	CLIP-seq
MIRT1496097	hsa-miR-141	CLIP-seq
MIRT1496105	hsa-miR-200a	CLIP-seq
MIRT1496155	hsa-miR-3660	CLIP-seq
MIRT1496156	hsa-miR-4292	CLIP-seq
MIRT1496157	hsa-miR-4526	CLIP-seq
MIRT1496132	hsa-miR-4666-3p	CLIP-seq
MIRT1496158	hsa-miR-4701-3p	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2149360	hsa-miR-501-3p	CLIP-seq
MIRT2149361	hsa-miR-502-3p	CLIP-seq
MIRT2149362	hsa-miR-767-5p	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496108	hsa-miR-298	CLIP-seq
MIRT1496114	hsa-miR-3612	CLIP-seq
MIRT1496123	hsa-miR-4266	CLIP-seq
MIRT1496134	hsa-miR-4695-5p	CLIP-seq
MIRT1496139	hsa-miR-4779	CLIP-seq
MIRT1496147	hsa-miR-601	CLIP-seq
MIRT1496150	hsa-miR-650	CLIP-seq
MIRT1496095	hsa-miR-103a	CLIP-seq
MIRT2663408	hsa-miR-1245b-3p	CLIP-seq
MIRT2663409	hsa-miR-1266	CLIP-seq
MIRT2663410	hsa-miR-1281	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496102	hsa-miR-1827	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT2663411	hsa-miR-197	CLIP-seq
MIRT2663412	hsa-miR-1973	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT2663413	hsa-miR-217	CLIP-seq
MIRT2663414	hsa-miR-2467-3p	CLIP-seq
MIRT2663415	hsa-miR-2682	CLIP-seq
MIRT2663416	hsa-miR-28-3p	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT2663417	hsa-miR-3148	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT2663418	hsa-miR-3158-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT2663419	hsa-miR-34a	CLIP-seq
MIRT2663420	hsa-miR-34c-5p	CLIP-seq
MIRT2663421	hsa-miR-3605-3p	CLIP-seq
MIRT2663422	hsa-miR-3616-3p	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT2663423	hsa-miR-3655	CLIP-seq
MIRT2663424	hsa-miR-3661	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT2663425	hsa-miR-3677-5p	CLIP-seq
MIRT2663426	hsa-miR-3678-3p	CLIP-seq
MIRT2663427	hsa-miR-3682-5p	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT2663428	hsa-miR-3978	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT2663429	hsa-miR-4271	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT2663430	hsa-miR-4310	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2663431	hsa-miR-4418	CLIP-seq
MIRT2663432	hsa-miR-4432	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT2663433	hsa-miR-449a	CLIP-seq
MIRT2663434	hsa-miR-449b	CLIP-seq
MIRT2663435	hsa-miR-449c	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT2663436	hsa-miR-4518	CLIP-seq
MIRT2663437	hsa-miR-4530	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT2663438	hsa-miR-4698	CLIP-seq
MIRT2663439	hsa-miR-4721	CLIP-seq
MIRT2663440	hsa-miR-4725-3p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT2663441	hsa-miR-4733-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT2663442	hsa-miR-4747-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT2663443	hsa-miR-486-5p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT2663444	hsa-miR-509-3-5p	CLIP-seq
MIRT2663445	hsa-miR-509-5p	CLIP-seq
MIRT2663446	hsa-miR-510	CLIP-seq
MIRT2663447	hsa-miR-517b	CLIP-seq
MIRT2663448	hsa-miR-518a-5p	CLIP-seq
MIRT2663449	hsa-miR-522	CLIP-seq
MIRT2663450	hsa-miR-527	CLIP-seq
MIRT2663451	hsa-miR-539	CLIP-seq
MIRT2663452	hsa-miR-548ag	CLIP-seq
MIRT2663453	hsa-miR-548ai	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT2663454	hsa-miR-583	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT2663455	hsa-miR-631	CLIP-seq
MIRT2663456	hsa-miR-7	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT2663457	hsa-miR-767-3p	CLIP-seq
MIRT2663458	hsa-miR-890	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT2663459	hsa-miR-942	CLIP-seq
MIRT2663408	hsa-miR-1245b-3p	CLIP-seq
MIRT2663409	hsa-miR-1266	CLIP-seq
MIRT2663410	hsa-miR-1281	CLIP-seq
MIRT1496096	hsa-miR-1285	CLIP-seq
MIRT1496098	hsa-miR-142-3p	CLIP-seq
MIRT1496099	hsa-miR-15a	CLIP-seq
MIRT1496100	hsa-miR-15b	CLIP-seq
MIRT1496101	hsa-miR-16	CLIP-seq
MIRT1496103	hsa-miR-1915	CLIP-seq
MIRT1496104	hsa-miR-195	CLIP-seq
MIRT2663411	hsa-miR-197	CLIP-seq
MIRT2663412	hsa-miR-1973	CLIP-seq
MIRT1496106	hsa-miR-214	CLIP-seq
MIRT2663414	hsa-miR-2467-3p	CLIP-seq
MIRT2663416	hsa-miR-28-3p	CLIP-seq
MIRT1496107	hsa-miR-2861	CLIP-seq
MIRT2663417	hsa-miR-3148	CLIP-seq
MIRT1496110	hsa-miR-3151	CLIP-seq
MIRT1496111	hsa-miR-3152-5p	CLIP-seq
MIRT2663418	hsa-miR-3158-5p	CLIP-seq
MIRT1496112	hsa-miR-3187-5p	CLIP-seq
MIRT2663421	hsa-miR-3605-3p	CLIP-seq
MIRT1496115	hsa-miR-3619-5p	CLIP-seq
MIRT2663423	hsa-miR-3655	CLIP-seq
MIRT2663424	hsa-miR-3661	CLIP-seq
MIRT1496116	hsa-miR-3665	CLIP-seq
MIRT2663425	hsa-miR-3677-5p	CLIP-seq
MIRT2663426	hsa-miR-3678-3p	CLIP-seq
MIRT2663427	hsa-miR-3682-5p	CLIP-seq
MIRT1496117	hsa-miR-3919	CLIP-seq
MIRT1496118	hsa-miR-3934	CLIP-seq
MIRT1496119	hsa-miR-3943	CLIP-seq
MIRT1496120	hsa-miR-3945	CLIP-seq
MIRT2663428	hsa-miR-3978	CLIP-seq
MIRT1496121	hsa-miR-424	CLIP-seq
MIRT1496122	hsa-miR-4253	CLIP-seq
MIRT2663429	hsa-miR-4271	CLIP-seq
MIRT1496124	hsa-miR-4291	CLIP-seq
MIRT1496125	hsa-miR-4297	CLIP-seq
MIRT2149359	hsa-miR-4328	CLIP-seq
MIRT2663432	hsa-miR-4432	CLIP-seq
MIRT1496126	hsa-miR-4436b-3p	CLIP-seq
MIRT1496127	hsa-miR-4447	CLIP-seq
MIRT1496128	hsa-miR-4456	CLIP-seq
MIRT1496129	hsa-miR-4472	CLIP-seq
MIRT1496130	hsa-miR-4505	CLIP-seq
MIRT2663436	hsa-miR-4518	CLIP-seq
MIRT2663437	hsa-miR-4530	CLIP-seq
MIRT1496133	hsa-miR-4685-5p	CLIP-seq
MIRT2663438	hsa-miR-4698	CLIP-seq
MIRT2663440	hsa-miR-4725-3p	CLIP-seq
MIRT1496135	hsa-miR-4727-3p	CLIP-seq
MIRT2663441	hsa-miR-4733-3p	CLIP-seq
MIRT1496136	hsa-miR-4736	CLIP-seq
MIRT2663442	hsa-miR-4747-5p	CLIP-seq
MIRT1496137	hsa-miR-4774-3p	CLIP-seq
MIRT1496140	hsa-miR-486-3p	CLIP-seq
MIRT2663443	hsa-miR-486-5p	CLIP-seq
MIRT1496141	hsa-miR-491-5p	CLIP-seq
MIRT1496142	hsa-miR-497	CLIP-seq
MIRT2663446	hsa-miR-510	CLIP-seq
MIRT2663447	hsa-miR-517b	CLIP-seq
MIRT2663449	hsa-miR-522	CLIP-seq
MIRT2663451	hsa-miR-539	CLIP-seq
MIRT1496143	hsa-miR-541	CLIP-seq
MIRT2663452	hsa-miR-548ag	CLIP-seq
MIRT2663453	hsa-miR-548ai	CLIP-seq
MIRT1496145	hsa-miR-582-3p	CLIP-seq
MIRT1496148	hsa-miR-612	CLIP-seq
MIRT2663455	hsa-miR-631	CLIP-seq
MIRT1496151	hsa-miR-654-5p	CLIP-seq
MIRT1496152	hsa-miR-761	CLIP-seq
MIRT2663457	hsa-miR-767-3p	CLIP-seq
MIRT2663458	hsa-miR-890	CLIP-seq
MIRT1496153	hsa-miR-922	CLIP-seq
MIRT2663459	hsa-miR-942	CLIP-seq

Transcription factors

Show/Hide all(7)

Transcription factor	Regulation	Reference
BRCA1	Unknown	12647291
CREB1	Unknown	21507255
HIF1A	Activation	19934262
SIRT1	Repression	21149730
SP1	Unknown	19934262;21507255
TP53	Unknown	12771027;12967652;15927209;16357511;22336944
TP63	Unknown	17984111

Show/Hide all(56)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000109	Component	Nucleotide-excision repair complex	IDA	11259578
GO:0000111	Component	Nucleotide-excision repair factor 2 complex	IBA
GO:0000404	Function	Heteroduplex DNA loop binding	TAS	19941824
GO:0000405	Function	Bubble DNA binding	TAS	19941824
GO:0000720	Process	Pyrimidine dimer repair by nucleotide-excision repair	IEA
GO:0000785	Component	Chromatin	ISS	33937266
GO:0003677	Function	DNA binding	IEA
GO:0003684	Function	Damaged DNA binding	IBA
GO:0003684	Function	Damaged DNA binding	IDA	12509299
GO:0003684	Function	Damaged DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IBA
GO:0003697	Function	Single-stranded DNA binding	IDA	12509299
GO:0003697	Function	Single-stranded DNA binding	TAS	8168482
GO:0003713	Function	Transcription coactivator activity	IDA	29973595, 31527837
GO:0005515	Function	Protein binding	IPI	10488153, 10734143, 17693435, 18024891, 21962512, 22039351, 26278177, 26638075, 28514442, 29973595, 31527837, 33961781, 34591612, 34591642, 35271311
GO:0005634	Component	Nucleus	IDA	18682493
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	18682493
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	TAS	1522891
GO:0006289	Process	Nucleotide-excision repair	IBA
GO:0006289	Process	Nucleotide-excision repair	IDA	8168482, 9734359, 11259578, 19941824
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	IEA
GO:0006289	Process	Nucleotide-excision repair	ISS	33937266
GO:0006289	Process	Nucleotide-excision repair	TAS	10873465
GO:0006298	Process	Mismatch repair	IBA
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0010224	Process	Response to UV-B	IEA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0031573	Process	Mitotic intra-S DNA damage checkpoint signaling	IEA
GO:0044877	Function	Protein-containing complex binding	IDA	11259578
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	29973595, 31527837
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0070914	Process	UV-damage excision repair	IDA	8077226
GO:0070914	Process	UV-damage excision repair	IEA
GO:0071942	Component	XPC complex	IBA
GO:0071942	Component	XPC complex	IDA	11279143, 31527837
GO:0090734	Component	Site of DNA damage	IEA
GO:0140612	Function	DNA damage sensor activity	IDA	10873465, 19941824
GO:0140612	Function	DNA damage sensor activity	ISS	33937266
GO:1901987	Process	Regulation of cell cycle phase transition	IEA
GO:1901990	Process	Regulation of mitotic cell cycle phase transition	IMP	17088560

MIM	HGNC	e!Ensembl
613208	12816	ENSG00000154767

Protein

UniProt ID

Q01831

Protein name

DNA repair protein complementing XP-C cells (Xeroderma pigmentosum group C-complementing protein) (p125)

Protein function

Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex (PubMed:10734143, PubMed:10873465, PubMed:12509299, PubMed:12547395, PubMed:19609301, PubMed:19941824,

PDB

2A4J , 2GGM , 2OBH , 2RVB , 8EBS , 8EBT , 8EBU , 8EBV , 8EBW , 8EBX , 8EBY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03835	Rad4	494 → 627	Rad4 transglutaminase-like domain	Domain
PF10403	BHD_1	631 → 681	Rad4 beta-hairpin domain 1	Domain
PF10404	BHD_2	685 → 744	Rad4 beta-hairpin domain 2	Domain
PF10405	BHD_3	751 → 824	Rad4 beta-hairpin domain 3	Domain

Sequence

MARKRAAGGEPRGRELRSQKSKAKSKARREEEEEDAFEDEKPPKKSLLSKVSQGKRKRGC
SHPGGSADGPAKKKVAKVTVKSENLKVIKDEALSDGDDLRDFPSDLKKAHHLKRGATMNE
DSNEEEEESENDWEEVEELSEPVLGDVRESTAFSRSLLPVKPVEIEIETPEQAKTRERSE
KIKLEFETYLRRAMKRFNKGVHEDTHKVHLLCLLANGFYRNNICSQPDLHAIGLSIIPAR
FTRVLPRDVDTYYLSNLVKWFIGTFTVNAELSASEQDNLQTTLERRFAIYSARDDEELVH
IFLLILRALQLLTRLVLSLQPIPLKSATAKGKKPSKERLTADPGGSSETSSQVLENHTKP
KTSKGTKQEETFAKGTCRPSAKGKRNKGGRKKRSKPSSSEEDEGPGDKQEKATQRRPHGR
ERRVASRVSYKEESGSDEAGSGSDFELSSGEASDPSDEDSEPGPPKQRKAPAPQRTKAGS
KSASRTHRGSHRKDPSLPAASSSSSSSKRGKKMCSDGEKAEKRSIAGIDQWLEVFCEQEE
KWVCVDCVHGVVGQPLTCYKYATKPMTYVVGIDSDGWVRDVTQRYDPVWMTVTRKCRVDA
EWWAETLRPYQSPFMDREKKEDLEFQAKHMDQPLPTAIGLYKNHPLYALKRHLLKYEAIY
PETAAILGYCRGEAVYSRDCVHTLHSRDTWLKKARVVRLGEVPYKMVKGFSNRARKARLA
EPQLREENDLGLFGYWQTEEYQPPVAVDGKVPRNEFGNVYLFLPSMMPIGCVQLNLPNLH
RVARKLDIDCVQAITGFDFHGGYSHPVTDGYIVCEEFKDVLLTAWENEQAVIERKEKEKK
EKRALGNWKLLAKGLLIRERLKRRYGPKSEAAAPHTDAGGGLSSDEEEGTSSQAEAARIL
AASWPQNREDEEKQKLKGGPKKTKREKKAAASHLFPFEQL

Sequence length

940

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair		SUMOylation of DNA damage response and repair proteins DNA Damage Recognition in GG-NER Formation of Incision Complex in GG-NER

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Xeroderma Pigmentosum	Xeroderma pigmentosum, group C, xeroderma pigmentosum, Xeroderma pigmentosum group A	rs752088918, rs1553608616, rs1553604620, rs1553604570, rs767569346, rs1574950526, rs1326646197, rs755825264, rs1553605805, rs1553605023, rs1309116467, rs201940931, rs1574972784, rs1553607144, rs374117852 View all (50 more)	N/A

Show/Hide Text Mining Associations (98)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma	Associate	17705814, 24252196, 27246533, 28878296, 32664151, 37006075
Adenocarcinoma of Lung	Associate	17498315, 17508409
Alzheimer Disease	Associate	26263968
Autistic Disorder	Associate	9804340
Bovine Respiratory Disease Complex	Associate	28273955
Breast Neoplasms	Associate	18053706, 18701435, 21622940, 21700777, 22519360, 23776089, 23852586, 25501155, 27571987, 27768589
Breast Neoplasms	Inhibit	23852586
Carcinogenesis	Associate	12505994, 17508409, 24382701, 25871391, 26604426, 33994366
Carcinoma Hepatocellular	Associate	25337275, 26967386
Carcinoma Hepatocellular	Stimulate	26967386
Carcinoma Merkel Cell	Associate	22261839
Carcinoma Non Small Cell Lung	Inhibit	17508409, 25871391
Carcinoma Non Small Cell Lung	Associate	28878296
Carcinoma Ovarian Epithelial	Associate	23621265
Carcinoma Small Cell	Associate	17498315, 25374063
Carcinoma Squamous Cell	Associate	17705814, 23335232, 27246533, 28878296
Cataract	Associate	27248495
Cataract Age Related Nuclear	Associate	30315181
Central Nervous System Neoplasms	Associate	35246173
Chromosome Aberrations	Associate	24770583
Clinical Deterioration	Associate	25651777
Colorectal Neoplasms	Associate	23801864, 23803084, 24939416, 25355595, 25391773, 29568775, 31988591, 36356413
Colorectal Neoplasms	Inhibit	25391773
Colorectal Neoplasms	Stimulate	31988591
Crohn Disease	Associate	29893334
Cyclic neutropenia	Associate	38013655
Death	Associate	11121128, 11511294, 23407396, 37798436
Death	Stimulate	23407396
DNA Repair Deficiency Disorders	Stimulate	27543334
Endometrial Neoplasms	Associate	21750170
Esophageal Neoplasms	Inhibit	19270000
Esophageal Squamous Cell Carcinoma	Associate	17653764, 26831662
Fever	Inhibit	22331493
Gastritis Atrophic	Associate	26760766
Gastrointestinal Stromal Tumors	Associate	27460091
Genital Neoplasms Female	Associate	35246173
Glioblastoma	Associate	24252196
Head and Neck Neoplasms	Associate	24338715, 24487794
Hearing Disorders	Associate	26918827
Hematologic Diseases	Associate	28472728
Hematologic Neoplasms	Associate	35246173
Hereditary Sensory and Autonomic Neuropathies	Associate	25340731
Hodgkin Disease	Associate	19280628, 21374732, 22902050
Ichthyosis	Associate	17355181
Intestinal Polyposis	Associate	36356413
Laryngitis	Associate	22126485
Leiomyoma	Associate	31428994
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20575039
Leukemia Myeloid Acute	Associate	20141440, 26779634
Lung Neoplasms	Associate	17498315, 17705814, 28540485, 37006075
Lung Neoplasms	Inhibit	17508409, 25871391
Lupus Erythematosus Systemic	Associate	27492607
Melanoma	Associate	23407396, 23659246, 27487145, 29373959, 33077847
Melanoma Cutaneous Malignant	Associate	26427666
Mesothelioma Malignant	Associate	28687356
Mitochondrial complex I deficiency	Associate	28273955
Mitral Valve Stenosis	Associate	26604426
Mouth Neoplasms	Associate	33994366
Muscular dystrophy congenital with central nervous system involvement	Associate	38040034
Myelodysplastic Syndromes	Associate	28472728
Nausea	Associate	26918827
Neoplasms	Associate	12170774, 12177305, 15107491, 16957781, 17498315, 18567921, 18955168, 20388771, 22174370, 23776089, 24252196, 24258024, 24366067, 24770583, 25501155 View all (9 more)
Neoplasms	Inhibit	21507255, 25927440
Neoplasms Squamous Cell	Associate	27246611
Neoplastic Syndromes Hereditary	Associate	24770583, 33827469
Neurodegenerative Diseases	Associate	24252196
Neurologic Manifestations	Associate	18955168
Neuroma Acoustic	Associate	31309113
Neutropenia	Associate	25340731, 38013655
Ovarian Neoplasms	Associate	21751198, 29669843
Ovarian Neoplasms	Stimulate	29669843
Personality Disorders	Stimulate	30777372
Pre Eclampsia	Associate	34802422
Prodromal Symptoms	Associate	34862210
Prostatic Neoplasms	Stimulate	22382185
Prostatic Neoplasms	Associate	26745975, 27974699, 30777372, 32300177, 32488882
Prostatic Neoplasms	Inhibit	27974699
Rectal Neoplasms	Associate	29568775
Rhinitis Allergic	Associate	35693108
Rupture	Associate	26604426
Skin Diseases	Associate	25759212
Skin Neoplasms	Associate	11121128, 11511294, 19953607, 20463673, 23244095, 24218596, 25759212, 27543334, 32843428, 8168482
Skin Neoplasms	Stimulate	24252196, 26884178
Smoke Inhalation Injury	Associate	26760766
Spinocerebellar Ataxia Autosomal Recessive 2	Associate	17984111
Squamous Cell Carcinoma of Head and Neck	Associate	22126485, 26505394, 26918827, 29893334, 33714009, 37798436
Stomach Neoplasms	Associate	26760766
Tertiary Lymphoid Structures	Associate	27768589
Thyroiditis	Associate	35246173
Trichothiodystrophy Syndromes	Associate	18470933
Urinary Bladder Diseases	Associate	21426550
Urinary Bladder Neoplasms	Associate	15886698, 18630471, 19924443, 21273643, 21426550, 21689419, 22927776, 24382701, 25535740, 25927440, 34068981
Urinary Bladder Neoplasms	Inhibit	21507255
Xeroderma Pigmentosum	Associate	11121128, 12177305, 15654957, 17498315, 18809580, 18955168, 19953607, 20054342, 20463673, 22068429, 24218596, 24366067, 24770583, 26874523, 27413738 View all (8 more)
Xeroderma Pigmentosum	Inhibit	24252196
Xeroderma Pigmentosum Complementation Group C	Inhibit	11511294
Xeroderma Pigmentosum Complementation Group C	Associate	12505994, 18809580, 20054342, 24236034, 25759212, 26681190, 28273955, 32843428, 37109656
Xeroderma Pigmentosum Complementation Group F	Associate	26681190

XPC (XPC complex subunit, DNA damage recognition and repair factor)