XPC
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Also known as XPCCRAD4
Summary
XPC (XPC complex subunit, DNA damage recognition and repair factor, HGNC:12816) is a protein-coding gene on chromosome 3p25.1, encoding DNA repair protein complementing XP-C cells (Q01831). Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex.
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 preference for single-stranded DNA. Mutations in this gene or some other NER components can result in Xeroderma pigmentosum, a rare autosomal recessive disorder characterized by increased sensitivity to sunlight with the development of carcinomas at an early age. Alternatively spliced transcript variants have been found for this gene.
Source: NCBI Gene 7508 — RefSeq curated summary.
At a glance
- Gene–disease (curated): xeroderma pigmentosum group C (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 1,097 total — 109 pathogenic, 82 likely-pathogenic
- Phenotypes (HPO): 68
- Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
- MANE Select transcript:
NM_004628
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:12816 |
| Approved symbol | XPC |
| Name | XPC complex subunit, DNA damage recognition and repair factor |
| Location | 3p25.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | XPCC, RAD4 |
| Ensembl gene | ENSG00000154767 |
| Ensembl biotype | protein_coding |
| OMIM | 613208 |
| Entrez | 7508 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 4 retained_intron, 3 nonsense_mediated_decay
ENST00000285021, ENST00000427795, ENST00000452172, ENST00000455144, ENST00000476581, ENST00000477324, ENST00000511155, ENST00000850573, ENST00000850574, ENST00000850575, ENST00000887849, ENST00000887850, ENST00000887851, ENST00000887852, ENST00000887853, ENST00000933890, ENST00000933891, ENST00000933892
RefSeq mRNA: 5 — MANE Select: NM_004628
NM_001354726, NM_001354727, NM_001354729, NM_001354730, NM_004628
CCDS: CCDS46763
Canonical transcript exons
ENST00000285021 — 16 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001160407 | 14170438 | 14170550 |
| ENSE00001160413 | 14172867 | 14173062 |
| ENSE00003656671 | 14168257 | 14168380 |
| ENSE00004282168 | 14148562 | 14148731 |
| ENSE00004282170 | 14167169 | 14167253 |
| ENSE00004282171 | 14148814 | 14148948 |
| ENSE00004282173 | 14159741 | 14159830 |
| ENSE00004282174 | 14158011 | 14158892 |
| ENSE00004282176 | 14164813 | 14164933 |
| ENSE00004282177 | 14152335 | 14152416 |
| ENSE00004282180 | 14165428 | 14165585 |
| ENSE00004282181 | 14147290 | 14147379 |
| ENSE00004282182 | 14147908 | 14148001 |
| ENSE00004282183 | 14156335 | 14156495 |
| ENSE00004282184 | 14178466 | 14178601 |
| ENSE00004282186 | 14145147 | 14146159 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 97.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 32.5264 / max 629.6482, expressed in 1817 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 41217 | 31.5001 | 1815 |
| 41218 | 0.8807 | 560 |
| 41216 | 0.1456 | 72 |
Top tissues by expression
302 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 97.30 | gold quality |
| calcaneal tendon | UBERON:0003701 | 96.16 | gold quality |
| mucosa of stomach | UBERON:0001199 | 93.12 | gold quality |
| skin of leg | UBERON:0001511 | 93.03 | gold quality |
| left ovary | UBERON:0002119 | 92.97 | gold quality |
| endocervix | UBERON:0000458 | 92.79 | gold quality |
| nerve | UBERON:0001021 | 92.66 | gold quality |
| tibial nerve | UBERON:0001323 | 92.66 | gold quality |
| right ovary | UBERON:0002118 | 92.59 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 92.46 | gold quality |
| body of uterus | UBERON:0009853 | 92.39 | gold quality |
| right uterine tube | UBERON:0001302 | 92.29 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.29 | gold quality |
| thyroid gland | UBERON:0002046 | 92.20 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 92.04 | gold quality |
| popliteal artery | UBERON:0002250 | 91.95 | gold quality |
| tibial artery | UBERON:0007610 | 91.94 | gold quality |
| pituitary gland | UBERON:0000007 | 91.82 | gold quality |
| adenohypophysis | UBERON:0002196 | 91.69 | gold quality |
| right lung | UBERON:0002167 | 91.68 | gold quality |
| zone of skin | UBERON:0000014 | 91.62 | gold quality |
| artery | UBERON:0001637 | 91.62 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 91.51 | gold quality |
| aorta | UBERON:0000947 | 91.42 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 91.41 | gold quality |
| ectocervix | UBERON:0012249 | 91.25 | gold quality |
| body of pancreas | UBERON:0001150 | 90.91 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 90.90 | gold quality |
| ascending aorta | UBERON:0001496 | 90.78 | gold quality |
| thoracic aorta | UBERON:0001515 | 90.78 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.13 |
| E-HCAD-5 | no | 2.21 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
4 targets.
| Target | Regulation |
|---|---|
| CASP2 | Repression |
| CPD | Unknown |
| KIN | Activation |
| RNF111 | Repression |
Upstream regulators (CollecTRI, top): BRCA1, CREB1, E2F1, E2F4, FOXC1, HIF1A, NR1H2, SIRT1, SP1, TFDP1, TP53, TP63
miRNA regulators (miRDB)
34 targeting XPC, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4745-5P | 99.98 | 65.95 | 1028 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4698 | 99.84 | 71.41 | 4303 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-4498 | 99.47 | 67.42 | 2360 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4695-5P | 99.06 | 64.87 | 1151 |
| HSA-MIR-5001-5P | 99.05 | 66.76 | 1972 |
| HSA-MIR-628-3P | 99.04 | 68.37 | 814 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-4632-5P | 97.82 | 65.38 | 1470 |
| HSA-MIR-3620-3P | 97.78 | 64.88 | 772 |
| HSA-MIR-6879-5P | 97.77 | 65.52 | 1521 |
Functional genomics
ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map
Literature-anchored findings (GeneRIF, showing 40)
- we investigated the association between the repair phenotype of ultraviolet (UV)-induced damage and genotypes of three DNA repair genes, XPC and XPD [involved in nucleotide excision repair (NER)] and XRCC1 [involved in base excision repair (BER)]. (PMID:11872635)
- human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function (PMID:12177305)
- XPC is regulated by DNA damage and p53 (PMID:12242345)
- the multistep process of DNA damage recognition includes initiation by XPC-hHR23B, which is then replaced by the combined action of XPA and RPA (PMID:12486030)
- BRCA1 upregulates XPC, with some evidence that p53 is involved in its regulation. (PMID:12496474)
- interacts physically and functionally with thymine DNA glycosylase (PMID:12505994)
- XPC and TFIIH are recruited to DNA damage by TP53 (PMID:12713809)
- analysis of mHR23A/B double-mutant cells showed that HR23 proteins function in nucleotide excision repair by governing xeroderma pigmentosum group C protein stability via partial protection against proteasomal degradation (PMID:12815074)
- Analysis of the XPC sequence (940 residues), using a calmodulin target recognition software, enabled us to predict two putative binding sites for centrin-2 (PMID:12890685)
- DDB2p48 activates the recruitment of XPC to cyclobutane pyrimidine dimers and may be the initial recognition factor in the nucleotide excision repair pathway (PMID:12944386)
- important role of the XPC protein in the cancer prevention (PMID:15107491)
- XPC protein plays an important role in the cisplatin treatment-mediated cellular response and may suggest a possible mechanism of cancer cell drug resistance. (PMID:15353127)
- presence of nucleosomes in undamaged DNA regions may help specific binding of the XPC complex to damaged sites by excluding its non-specific binding to undamaged DNA regions (PMID:15661662)
- Genetic polymorphism in XPC gene is associated with lung cancer (PMID:15700316)
- XPC undergoes reversible ubiquitylation upon UV irradiation and this depends on the presence of functional UV-DDB activity. (PMID:15882621)
- Overexpression of XPC is associated with liver fibrogenesis and cancer and could be related to the well recognized resistance of HCC to chemotherapeutics. (PMID:15922480)
- Centrin 2 stimulates nucleotide excision repair by interacting with XPC. (PMID:15964821)
- Reduced XPC mRNA levels and mutations are associated with xeroderma pigmentosum risk (PMID:16081512)
- The findings support the hypothesis that these two XPC variants may contribute to the risk of developing lung cancer. (PMID:16086280)
- RAD23 homolog A regulates the function of XPC by its association with the nucleotide excision repair activator p53 (PMID:16105547)
- Three linked XPC alleles, 492R, 499A, and 939Q, were associated with increased risk of colorectal adenoma in smokers. (PMID:16492920)
- CUL-4A mediates the proteolytic degradation of DDB2 and this degradation event, initiated at the lesion sites, regulates damage recognition by XPC. (PMID:16527807)
- the crystal structure of calcium-loaded full-length centrin-2 complexed with a xeroderma pigmentosum group C peptide; a novel binding motif for centrin (PMID:16627479)
- A novel homozygous complex insertion/deletion mutation within exon 9 of the XPC gene in Iraqi family with xeroderma pigmentosum was reproted. (PMID:16794584)
- A complex formed by a Ca2+-bound human centrin 2 with a 17-mer peptide derived from the XPC sequence was crystallized. (PMID:16820684)
- This article summarizes our current knowledge of the properties of the XPC complex and UV-DDB and discusses possible roles for ubiquitylation in the molecular mechanisms that underlie the efficient recognition and repair of DNA damage. (PMID:16858626)
- XPC plays an unexpected and multifaceted role in cell protection from oxidative DNA damage. (PMID:16957781)
- In the high incidence region of Hebei Province, C/T genotype of XPC exon 8 may decrease the risk of developing gastsric cardiac adenocarcinoma. (PMID:16965652)
- sequence variants in the XPC gene may modulate the risk of bladder cancer. (PMID:17052994)
- Results show that hypermethylation of the XPC promoter may play a crucial role in XPC inactivation, which may partly contribute to the occurrence of p53 mutations during lung tumorigenesis, especially nonsmokers. (PMID:17325666)
- statistically significant interaction between the XPC Lys939Gln polymorphism and consumption of red meat, with a 3.7-fold increase in colorectal cancer risk per 100g red meat intake per day among carriers of the homozygous variant (PMID:17363013)
- XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer (PMID:17374967)
- XPC (K939Q) polymorphism either individually or in combination with the XPD (K751Q) polymorphism modulates the risk of death in patients with urinary bladder neoplasms (PMID:17438703)
- results suggest that inherited sequence variations in XPC may modulate risk of lung cancer, especially lung adenocarcinoma, in Chinese populations (PMID:17498315)
- Results suggest that reduced XPC mRNA level may constitute an independent prognostic factor for nonsmall cell lung cancer patients. (PMID:17508409)
- Single nucleotide polymorphisms of xeroderma pigmentosum group C is associated with esophageal squamous cell carcinoma (PMID:17653764)
- predictive value of DNA damage-induced XPC levels as a possible biomarker for radiosensitivity has to be further investigated (PMID:17657713)
- Results demonstrate the role of DNA binding by xeroderma pigmentosum C protein in the assembly of subsequent nucleotide excision repair intermediate complexes. (PMID:17682058)
- Only carriers of the XPC 499Val/Val genotype had a significantly increased SCCHN risk. (PMID:17684138)
- The XPC 499Val allele and its haplotype were strongly associated with nasopharyngeal carcinoma. This polymorphism may be a contributing factor in NPC development. (PMID:17882560)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | xpc | ENSDARG00000039754 |
| mus_musculus | Xpc | ENSMUSG00000030094 |
| rattus_norvegicus | Xpc | ENSRNOG00000008274 |
| drosophila_melanogaster | Xpc | FBGN0004698 |
| caenorhabditis_elegans | WBGENE00022296 |
Protein
Protein identifiers
DNA repair protein complementing XP-C cells — Q01831 (reviewed: Q01831)
Alternative names: Xeroderma pigmentosum group C-complementing protein, p125
All UniProt accessions (3): Q01831, E7EUB5, X5DRB1
UniProt curated annotations — full annotation on UniProt →
Function. Involved in global genome nucleotide excision repair (GG-NER) by acting as damage sensing and DNA-binding factor component of the XPC complex. Has only a low DNA repair activity by itself which is stimulated by RAD23B and RAD23A. Has a preference to bind DNA containing a short single-stranded segment but not to damaged oligonucleotides. This feature is proposed to be related to a dynamic sensor function: XPC can rapidly screen duplex DNA for non-hydrogen-bonded bases by forming a transient nucleoprotein intermediate complex which matures into a stable recognition complex through an intrinsic single-stranded DNA-binding activity. The XPC complex is proposed to represent the first factor bound at the sites of DNA damage and together with other core recognition factors, XPA, RPA and the TFIIH complex, is part of the pre-incision (or initial recognition) complex. The XPC complex recognizes a wide spectrum of damaged DNA characterized by distortions of the DNA helix such as single-stranded loops, mismatched bubbles or single-stranded overhangs. The orientation of XPC complex binding appears to be crucial for inducing a productive NER. XPC complex is proposed to recognize and to interact with unpaired bases on the undamaged DNA strand which is followed by recruitment of the TFIIH complex and subsequent scanning for lesions in the opposite strand in a 5’-to-3’ direction by the NER machinery. Cyclobutane pyrimidine dimers (CPDs) which are formed upon UV-induced DNA damage esacpe detection by the XPC complex due to a low degree of structural perurbation. Instead they are detected by the UV-DDB complex which in turn recruits and cooperates with the XPC complex in the respective DNA repair. In vitro, the XPC:RAD23B dimer is sufficient to initiate NER; it preferentially binds to cisplatin and UV-damaged double-stranded DNA and also binds to a variety of chemically and structurally diverse DNA adducts. XPC:RAD23B contacts DNA both 5’ and 3’ of a cisplatin lesion with a preference for the 5’ side. XPC:RAD23B induces a bend in DNA upon binding. XPC:RAD23B stimulates the activity of DNA glycosylases TDG and SMUG1. In absence of DNA repair, the XPC complex also acts as a transcription coactivator: XPC interacts with the DNA-binding transcription factor E2F1 at a subset of promoters to recruit KAT2A and histone acetyltransferase complexes (HAT). KAT2A recruitment specifically promotes acetylation of histone variant H2A.Z.1/H2A.Z, but not H2A.Z.2/H2A.V, thereby promoting expression of target genes.
Subunit / interactions. Component of the XPC complex composed of XPC, RAD23B and CETN2. Interacts with RAD23A; the interaction is suggesting the existence of a functional equivalent variant XPC complex. Interacts with TDG; the interaction is demonstrated using the XPC:RAD23B dimer. Interacts with SMUG1; the interaction is demonstrated using the XPC:RAD23B dimer. Interacts with DDB2. Interacts with CCNH, GTF2H1 and ERCC3. Interacts with E2F1 and KAT2A; leading to KAT2A recruitment to promoters and subsequent acetylation of histones.
Subcellular location. Nucleus. Chromosome. Cytoplasm.
Post-translational modifications. Ubiquitinated upon UV irradiation; the ubiquitination requires the UV-DDB complex, appears to be reversible and does not serve as a signal for degradation. Ubiquitinated by RNF11 via ‘Lys-63’-linked ubiquitination. Ubiquitination by RNF111 is polysumoylation-dependent and promotes nucleotide excision repair. Sumoylated; sumoylation promotes ubiquitination by RNF111.
Disease relevance. Xeroderma pigmentosum complementation group C (XP-C) [MIM:278720] 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. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the XPC family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q01831-1 | 1 | yes |
| Q01831-2 | 2 | |
| Q01831-3 | 3, B |
RefSeq proteins (5): NP_001341655, NP_001341656, NP_001341658, NP_001341659, NP_004619* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004583 | DNA_repair_Rad4 | Family |
| IPR018026 | DNA_repair_Rad4-like | Family |
| IPR018325 | Rad4/PNGase_transGLS-fold | Domain |
| IPR018326 | Rad4_beta-hairpin_dom1 | Domain |
| IPR018327 | BHD_2 | Domain |
| IPR018328 | Rad4_beta-hairpin_dom3 | Domain |
| IPR036985 | Transglutaminase-like_sf | Homologous_superfamily |
| IPR038765 | Papain-like_cys_pep_sf | Homologous_superfamily |
| IPR042488 | Rad4_BHD3_sf | Homologous_superfamily |
Pfam: PF03835, PF10403, PF10404, PF10405
UniProt features (79 total): sequence variant 18, modified residue 14, mutagenesis site 11, region of interest 10, compositionally biased region 5, helix 5, cross-link 4, splice variant 3, sequence conflict 2, turn 2, strand 2, initiator methionine 1, chain 1, short sequence motif 1
Structure
Experimental structures (PDB)
18 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2OBH | X-RAY DIFFRACTION | 1.8 |
| 2GGM | X-RAY DIFFRACTION | 2.35 |
| 28JM | ELECTRON MICROSCOPY | 3.29 |
| 8EBU | ELECTRON MICROSCOPY | 3.3 |
| 9PD3 | ELECTRON MICROSCOPY | 3.3 |
| 28JS | ELECTRON MICROSCOPY | 3.32 |
| 9XYU | ELECTRON MICROSCOPY | 3.5 |
| 28KE | ELECTRON MICROSCOPY | 3.6 |
| 8EBX | ELECTRON MICROSCOPY | 3.6 |
| 8EBY | ELECTRON MICROSCOPY | 3.6 |
| 8EBT | ELECTRON MICROSCOPY | 3.9 |
| 28JV | ELECTRON MICROSCOPY | 3.91 |
| 8EBS | ELECTRON MICROSCOPY | 4 |
| 9PCP | ELECTRON MICROSCOPY | 4.3 |
| 8EBW | ELECTRON MICROSCOPY | 5.6 |
| 8EBV | ELECTRON MICROSCOPY | 7.1 |
| 2A4J | SOLUTION NMR | |
| 2RVB | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q01831-F1 | 67.67 | 0.40 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (18): 94, 129, 140, 169, 397, 398, 399, 453, 460, 876, 883, 884, 891, 903, 41, 81, 89, 161
Mutagenesis-validated functional residues (11):
| Position | Phenotype |
|---|---|
| 531 | slightly diminishes repair activity and slightly impairs dna binding. |
| 542 | slightly diminishes repair activity and slightly impairs dna binding. |
| 733 | diminishes repair activity and impairs dna binding. |
| 754 | reduces dna repair activity; abolishes single-stranded dna binding; reduces binding to homoduplex dna; reduces localizat |
| 755 | reduces nuclear mobility and impairs repair activity. |
| 756 | reduces dna repair activity; abolishes single-stranded dna binding; reduces binding to homoduplex dna; reduces localizat |
| 797 | reduces dna repair activity; abolishes single-stranded dna binding; reduces binding to homoduplex dna; reduces localizat |
| 799 | reduces dna repair activity; abolishes single-stranded dna binding; reduces binding to homoduplex dna; greatly reduces l |
| 848 | reduces ner activity and abolishes interaction with cetn2; when associated with a-851 and a-855. |
| 851 | reduces ner activity and abolishes interaction with cetn2; when associated with a-848 and a-855. |
| 855 | reduces ner activity and abolishes interaction with cetn2; when associated with a-848 and a-851. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
| R-HSA-5696394 | DNA Damage Recognition in GG-NER |
| R-HSA-5696395 | Formation of Incision Complex in GG-NER |
MSigDB gene sets: 375 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, REACTOME_FORMATION_OF_INCISION_COMPLEX_IN_GG_NER, MULLIGHAN_NPM1_SIGNATURE_3_UP, JI_RESPONSE_TO_FSH_UP, GOBP_CELLULAR_RESPONSE_TO_UV, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_CELL_CYCLE_PHASE_TRANSITION, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, DARWICHE_PAPILLOMA_PROGRESSION_RISK, KAUFFMANN_DNA_REPAIR_GENES, MORF_PSMC2, GOBP_MITOTIC_INTRA_S_DNA_DAMAGE_CHECKPOINT_SIGNALING, HINATA_NFKB_TARGETS_KERATINOCYTE_UP, GOBP_NUCLEOTIDE_EXCISION_REPAIR, MORF_RAF1
GO Biological Process (14): pyrimidine dimer repair by nucleotide-excision repair (GO:0000720), DNA repair (GO:0006281), nucleotide-excision repair (GO:0006289), mismatch repair (GO:0006298), response to xenobiotic stimulus (GO:0009410), response to UV-B (GO:0010224), response to auditory stimulus (GO:0010996), mitotic intra-S DNA damage checkpoint signaling (GO:0031573), positive regulation of DNA-templated transcription (GO:0045893), UV-damage excision repair (GO:0070914), regulation of mitotic cell cycle phase transition (GO:1901990), DNA damage response (GO:0006974), regulation of mitotic cell cycle (GO:0007346), regulation of cell cycle phase transition (GO:1901987)
GO Molecular Function (10): heteroduplex DNA loop binding (GO:0000404), bubble DNA binding (GO:0000405), damaged DNA binding (GO:0003684), single-stranded DNA binding (GO:0003697), transcription coactivator activity (GO:0003713), protein-containing complex binding (GO:0044877), RNA polymerase II-specific DNA-binding transcription factor binding (GO:0061629), DNA damage sensor activity (GO:0140612), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (13): nucleotide-excision repair complex (GO:0000109), nucleotide-excision repair factor 2 complex (GO:0000111), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), plasma membrane (GO:0005886), XPC complex (GO:0071942), site of DNA damage (GO:0090734), chromosome (GO:0005694)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Global Genome Nucleotide Excision Repair (GG-NER) | 2 |
| SUMO E3 ligases SUMOylate target proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 5 |
| DNA repair | 3 |
| DNA secondary structure binding | 2 |
| DNA binding | 2 |
| binding | 2 |
| nucleotide-excision repair complex | 2 |
| chromosome | 2 |
| intracellular membrane-bounded organelle | 2 |
| nuclear lumen | 2 |
| intracellular membraneless organelle | 2 |
| cytoplasm | 2 |
| nucleotide-excision repair | 1 |
| pyrimidine dimer repair | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| response to chemical | 1 |
| response to UV | 1 |
| response to mechanical stimulus | 1 |
| mitotic S phase | 1 |
| mitotic DNA damage checkpoint signaling | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cellular response to UV | 1 |
| regulation of mitotic cell cycle | 1 |
| mitotic cell cycle phase transition | 1 |
| regulation of cell cycle phase transition | 1 |
| cellular response to stress | 1 |
| mitotic cell cycle | 1 |
| regulation of cell cycle | 1 |
| regulation of cell cycle process | 1 |
| cell cycle phase transition | 1 |
| DNA insertion or deletion binding | 1 |
| transcription coregulator activity | 1 |
| positive regulation of DNA-templated transcription | 1 |
| DNA-binding transcription factor binding | 1 |
| damaged DNA binding | 1 |
| molecular sensor activity | 1 |
| nucleic acid binding | 1 |
| nuclear protein-containing complex | 1 |
Protein interactions and networks
STRING
1435 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| XPC | RAD23B | P54727 | 999 |
| XPC | CETN2 | P41208 | 992 |
| XPC | SMARCB1 | Q12824 | 957 |
| XPC | RAD23A | P54725 | 950 |
| XPC | ERCC1 | P07992 | 945 |
| XPC | XPA | P23025 | 918 |
| XPC | FEN1 | P39748 | 910 |
| XPC | ERCC4 | Q92889 | 798 |
| XPC | DDB2 | Q92466 | 797 |
| XPC | DDB1 | Q16531 | 791 |
| XPC | TDG | Q13569 | 766 |
| XPC | TOPBP1 | Q92547 | 760 |
| XPC | ERCC3 | P19447 | 737 |
| XPC | ERCC6 | Q03468 | 718 |
| XPC | ERCC2 | P18074 | 715 |
IntAct
170 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| XPC | RAD23B | psi-mi:“MI:0915”(physical association) | 0.900 |
| XPC | CETN2 | psi-mi:“MI:0407”(direct interaction) | 0.900 |
| CCNH | ERCC3 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| CETN2 | SFI1 | psi-mi:“MI:0914”(association) | 0.740 |
| RPA4 | RPA1 | psi-mi:“MI:0914”(association) | 0.740 |
| H2AX | PPM1G | psi-mi:“MI:0914”(association) | 0.730 |
| XPC | CETN3 | psi-mi:“MI:0914”(association) | 0.730 |
| XPC | PARP1 | psi-mi:“MI:0914”(association) | 0.730 |
| CETN2 | RAD23B | psi-mi:“MI:0914”(association) | 0.670 |
| RAD23B | CETN2 | psi-mi:“MI:0914”(association) | 0.670 |
| H2AC4 | PPM1G | psi-mi:“MI:0914”(association) | 0.670 |
| XPC | psi-mi:“MI:0915”(physical association) | 0.640 |
BioGRID (311): RAD23B (Co-fractionation), RAD23B (Affinity Capture-Western), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), XPC (Affinity Capture-MS), TDG (Two-hybrid), XPC (Two-hybrid), XPC (Reconstituted Complex), XPC (Proximity Label-MS)
ESM2 similar proteins: A4FV97, D4ACP5, O09130, O35144, O76021, P38432, P51612, Q01831, Q05CL8, Q08288, Q14684, Q15554, Q28G87, Q32LC1, Q58CQ0, Q58CQ5, Q5I0E6, Q5NC05, Q5NVA9, Q5R8S0, Q5RCE6, Q5RDL2, Q5SU73, Q5SXM2, Q5XI01, Q5ZJJ1, Q66H19, Q66H85, Q6AYK5, Q6IRU7, Q7TSG2, Q80UU1, Q8BJW7, Q8BVY0, Q8N163, Q8VDP4, Q8VID5, Q91VE6, Q91YK2, Q96AY2
Diamond homologs: P51612, P87235, Q01831, Q10445, Q24595, Q8W489
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| ATR | up-regulates | XPC | binding |
| CSNK2A1 | “up-regulates activity” | XPC | phosphorylation |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 154 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Formation of Incision Complex in GG-NER | 14 | 34.2× | 9e-16 |
| Dual Incision in GG-NER | 10 | 25.0× | 4e-10 |
| PCNA-Dependent Long Patch Base Excision Repair | 5 | 25.0× | 1e-05 |
| RNA Polymerase I Transcription Termination | 7 | 22.0× | 3e-07 |
| RNA Polymerase I Promoter Escape | 16 | 18.7× | 4e-14 |
| FXIIa activates plasma kallikrein-kinin system | 11 | 18.3× | 1e-09 |
| SIRT1 negatively regulates rRNA expression | 11 | 18.0× | 1e-09 |
| Recognition and association of DNA glycosylase with site containing an affected pyrimidine | 10 | 17.7× | 8e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| base-excision repair | 10 | 34.2× | 9e-11 |
| nucleotide-excision repair | 12 | 33.5× | 8e-13 |
| double-strand break repair via nonhomologous end joining | 5 | 15.4× | 2e-03 |
| heterochromatin formation | 8 | 14.9× | 1e-05 |
| response to UV | 5 | 13.4× | 3e-03 |
| telomere maintenance | 6 | 11.7× | 1e-03 |
| nucleosome assembly | 11 | 11.3× | 9e-07 |
| cytoplasmic translation | 7 | 9.5× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
1097 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 109 |
| Likely pathogenic | 82 |
| Uncertain significance | 195 |
| Likely benign | 567 |
| Benign | 47 |
Top pathogenic / likely-pathogenic (30)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1074604 | NM_004628.5(XPC):c.2224C>T (p.Gln742Ter) | Pathogenic |
| 1074884 | NM_004628.5(XPC):c.1452dup (p.Arg485fs) | Pathogenic |
| 1076552 | NM_004628.5(XPC):c.875_882dup (p.Asp295fs) | Pathogenic |
| 1319091 | NM_004628.5(XPC):c.299+2T>G | Pathogenic |
| 1342722 | NM_004628.5(XPC):c.2250+1G>A | Pathogenic |
| 1354436 | NM_004628.5(XPC):c.803dup (p.Asn268fs) | Pathogenic |
| 1366319 | NM_004628.5(XPC):c.1527del (p.Gly510fs) | Pathogenic |
| 1380921 | NM_004628.5(XPC):c.1988_1989del (p.Thr663fs) | Pathogenic |
| 1413330 | NM_004628.5(XPC):c.1681dup (p.Tyr561fs) | Pathogenic |
| 1451431 | NM_004628.5(XPC):c.529_530del (p.Glu177fs) | Pathogenic |
| 1453010 | NM_004628.5(XPC):c.826C>T (p.Gln276Ter) | Pathogenic |
| 1453188 | NM_004628.5(XPC):c.220A>T (p.Lys74Ter) | Pathogenic |
| 1455403 | NM_004628.5(XPC):c.2028C>G (p.Tyr676Ter) | Pathogenic |
| 1455510 | NM_004628.5(XPC):c.2473dup (p.Trp825fs) | Pathogenic |
| 1455531 | NM_004628.5(XPC):c.1302_1303del (p.Ser434fs) | Pathogenic |
| 1456131 | NM_004628.5(XPC):c.1182del (p.Ser394fs) | Pathogenic |
| 1458152 | NM_004628.5(XPC):c.570del (p.Arg191fs) | Pathogenic |
| 1675906 | NM_004628.5(XPC):c.1024del (p.Asp342fs) | Pathogenic |
| 1701453 | NM_004628.5(XPC):c.2451_2461delinsT (p.Lys818fs) | Pathogenic |
| 190208 | NM_004628.5(XPC):c.2262del (p.Asn754fs) | Pathogenic |
| 190209 | NM_004628.5(XPC):c.622-2A>C | Pathogenic |
| 190211 | NM_004628.5(XPC):c.1677C>A (p.Tyr559Ter) | Pathogenic |
| 190213 | NM_004628.5(XPC):c.2251-1G>C | Pathogenic |
| 1951736 | NM_004628.5(XPC):c.2368dup (p.Cys790fs) | Pathogenic |
| 1968545 | NM_004628.5(XPC):c.2474G>A (p.Trp825Ter) | Pathogenic |
| 2007576 | NM_004628.5(XPC):c.553dup (p.Glu185fs) | Pathogenic |
| 2078189 | NM_004628.5(XPC):c.1919_1923dup (p.Lys642fs) | Pathogenic |
| 2124748 | NM_004628.5(XPC):c.2226del (p.Gln742fs) | Pathogenic |
| 2425189 | NC_000003.11:g.(?14206293)(14209904_?)del | Pathogenic |
| 254 | NM_004628.4(XPC):c.621_622ins83 (p.?) | Pathogenic |
SpliceAI
2634 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:14146168:G:GC | acceptor_gain | 1.0000 |
| 3:14146172:CAG:C | acceptor_gain | 1.0000 |
| 3:14146173:A:T | acceptor_gain | 1.0000 |
| 3:14146174:G:C | acceptor_gain | 1.0000 |
| 3:14146174:G:GC | acceptor_gain | 1.0000 |
| 3:14146177:G:C | acceptor_gain | 1.0000 |
| 3:14146177:G:GC | acceptor_gain | 1.0000 |
| 3:14147285:CTGA:C | donor_loss | 1.0000 |
| 3:14147286:TGAC:T | donor_loss | 1.0000 |
| 3:14147287:GACCT:G | donor_loss | 1.0000 |
| 3:14147289:C:G | donor_loss | 1.0000 |
| 3:14147375:TTTTT:T | acceptor_gain | 1.0000 |
| 3:14147376:TTTT:T | acceptor_gain | 1.0000 |
| 3:14147377:TTT:T | acceptor_gain | 1.0000 |
| 3:14147378:TT:T | acceptor_gain | 1.0000 |
| 3:14147379:TC:T | acceptor_loss | 1.0000 |
| 3:14147380:C:CC | acceptor_gain | 1.0000 |
| 3:14147381:T:A | acceptor_loss | 1.0000 |
| 3:14147387:C:CT | acceptor_gain | 1.0000 |
| 3:14147388:A:T | acceptor_gain | 1.0000 |
| 3:14147392:A:AC | acceptor_gain | 1.0000 |
| 3:14147392:A:C | acceptor_gain | 1.0000 |
| 3:14147903:CTTA:C | donor_loss | 1.0000 |
| 3:14147904:TTA:T | donor_loss | 1.0000 |
| 3:14147905:TACC:T | donor_loss | 1.0000 |
| 3:14147906:A:AC | donor_gain | 1.0000 |
| 3:14147906:ACCT:A | donor_gain | 1.0000 |
| 3:14147907:C:CC | donor_gain | 1.0000 |
| 3:14147907:CCT:C | donor_gain | 1.0000 |
| 3:14147907:CCTC:C | donor_gain | 1.0000 |
AlphaMissense
6165 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:14148591:A:C | F797L | 0.999 |
| 3:14148591:A:T | F797L | 0.999 |
| 3:14148593:A:G | F797L | 0.999 |
| 3:14147984:A:T | V813D | 0.998 |
| 3:14148634:G:T | A783D | 0.998 |
| 3:14148679:G:T | P768H | 0.998 |
| 3:14152382:A:G | W690R | 0.998 |
| 3:14152382:A:T | W690R | 0.998 |
| 3:14156344:A:T | V675D | 0.998 |
| 3:14147960:A:T | L821H | 0.997 |
| 3:14148669:A:C | C771W | 0.997 |
| 3:14148679:G:C | P768R | 0.997 |
| 3:14148720:G:C | N754K | 0.997 |
| 3:14148720:G:T | N754K | 0.997 |
| 3:14148827:G:T | A746D | 0.997 |
| 3:14148712:C:A | G757V | 0.996 |
| 3:14148730:A:T | V751E | 0.996 |
| 3:14156396:C:G | A658P | 0.996 |
| 3:14148671:A:G | C771R | 0.995 |
| 3:14148680:G:A | P768S | 0.995 |
| 3:14148712:C:T | G757E | 0.995 |
| 3:14148714:A:C | F756L | 0.995 |
| 3:14148714:A:T | F756L | 0.995 |
| 3:14148716:A:G | F756L | 0.995 |
| 3:14148853:C:A | Q737H | 0.995 |
| 3:14148853:C:G | Q737H | 0.995 |
| 3:14148865:A:C | F733L | 0.995 |
| 3:14148865:A:T | F733L | 0.995 |
| 3:14148867:A:G | F733L | 0.995 |
| 3:14147352:A:G | W848R | 0.994 |
dbSNP variants (sampled 300 via entrez): RS1000007221 (3:14169361 G>A), RS1000012162 (3:14146326 C>G,T), RS1000179716 (3:14151537 G>A), RS1000212459 (3:14166611 C>A), RS1000245836 (3:14147830 G>A,T), RS1000329584 (3:14157572 C>T), RS1000381937 (3:14157281 A>C,G), RS1000409652 (3:14179791 A>G), RS1000543405 (3:14163519 T>C), RS1000549110 (3:14169894 G>A,C), RS1000602863 (3:14169503 A>G), RS1000621206 (3:14151580 C>T), RS1000669774 (3:14158893 C>T), RS1000809363 (3:14175950 C>T), RS1000971305 (3:14165105 T>A,C)
Disease associations
OMIM: gene MIM:613208 | disease phenotypes: MIM:278720, MIM:278700, MIM:167000, MIM:176807
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group C | Definitive | Autosomal recessive |
| xeroderma pigmentosum | Supportive | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| xeroderma pigmentosum group C | Definitive | AR |
Mondo (6): xeroderma pigmentosum group C (MONDO:0010211), xeroderma pigmentosum (MONDO:0019600), ovarian cancer (MONDO:0008170), xeroderma pigmentosum group A (MONDO:0010210), prostate cancer, hereditary (MONDO:0700275), hereditary neoplastic syndrome (MONDO:0015356)
Orphanet (6): Xeroderma pigmentosum (Orphanet:910), Rare ovarian cancer (Orphanet:213500), Familial prostate cancer (Orphanet:1331), Inherited cancer-predisposing syndrome (Orphanet:140162), OBSOLETE: Xeroderma pigmentosum complementation group C (Orphanet:276255), OBSOLETE: Xeroderma pigmentosum complementation group A (Orphanet:276249)
HPO phenotypes
68 total (30 of 68 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000135 | Hypogonadism |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000365 | Hearing impairment |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000486 | Strabismus |
| HP:0000491 | Keratitis |
| HP:0000498 | Blepharitis |
| HP:0000509 | Conjunctivitis |
| HP:0000518 | Cataract |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0000613 | Photophobia |
| HP:0000621 | Entropion |
| HP:0000648 | Optic atrophy |
| HP:0000656 | Ectropion |
| HP:0000958 | Dry skin |
| HP:0000962 | Hyperkeratosis |
| HP:0000963 | Thin skin |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0000995 | Melanocytic nevus |
| HP:0001009 | Telangiectasia |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0001029 | Poikiloderma |
| HP:0001034 | Hypermelanotic macule |
| HP:0001053 | Hypopigmented skin patches |
| HP:0001059 | Pterygium |
| HP:0001072 | Thickened skin |
| HP:0001249 | Intellectual disability |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90020028_790 | Hip circumference adjusted for BMI | 2.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008039 | BMI-adjusted hip circumference |
MeSH disease descriptors (5)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D009386 | Neoplastic Syndromes, Hereditary | C04.700; C16.320.700 |
| D010051 | Ovarian Neoplasms | C04.588.322.455; C12.050.351.500.056.630.705; C12.050.351.937.418.685; C12.100.250.056.630.705; C12.900.418.685; C19.344.410; C19.391.630.705 |
| D014983 | Xeroderma Pigmentosum | C04.834.867; C16.131.831.936; C16.320.850.970; C17.800.600.925; C17.800.621.936; C17.800.804.936; C17.800.827.970; C18.452.284.975 |
| C537243 | Prostate cancer, familial (supp.) | |
| C567886 | Xeroderma Pigmentosum, Complementation Group C (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
5 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs2228000 | Toxicity | 3 | Platinum compounds | Gastrointestinal toxicity;Hematologic Disorder;Leukopenia;Non-Small Cell Lung Carcinoma |
| rs2228001 | Toxicity | 3 | cisplatin | Neutropenia;Urinary Bladder Neoplasms |
| rs2228001 | Toxicity | 3 | cisplatin | Drug Toxicity;Urinary Bladder Neoplasms |
| rs2228001 | Toxicity | 3 | doxorubicin | Infectious disease;Osteosarcoma |
| rs2228001 | Toxicity | 3 | cisplatin | Neoplasms;Osteosarcoma;Ototoxicity;Testicular Neoplasms |
PharmGKB variants
3 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs2228001 | TMEM43, XPC | 3 | 2.75 | 4 | cisplatin;doxorubicin |
| rs1870134 | LSM3, XPC | 0.00 | 0 | ||
| rs2228000 | XPC | 3 | 1.50 | 1 | Platinum compounds |
CTD chemical–gene interactions
86 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases response to substance, decreases expression, decreases reaction, increases abundance, increases expression (+2 more) | 12 |
| Cisplatin | decreases expression, decreases reaction, increases expression, increases response to substance, affects reaction (+2 more) | 9 |
| Benzo(a)pyrene | decreases reaction, affects response to substance, affects cotreatment, decreases expression, increases expression | 7 |
| Aflatoxin B1 | affects expression, affects cotreatment, increases expression | 5 |
| Arsenic | affects expression, decreases expression, decreases reaction, increases abundance, affects response to substance | 4 |
| Tobacco Smoke Pollution | decreases expression, increases expression | 4 |
| Doxorubicin | affects reaction, affects response to substance, affects expression, increases expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Arsenic Trioxide | affects response to substance | 2 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation, affects response to substance | 2 |
| Benzene | decreases expression, increases expression | 2 |
| Ozone | affects cotreatment, increases oxidation, increases abundance, increases expression | 2 |
| Pesticides | decreases expression, affects response to substance | 2 |
| Quercetin | increases expression, affects response to substance | 2 |
| Valproic Acid | affects expression, affects binding, increases reaction, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Zidovudine | decreases response to substance, increases expression | 2 |
| Cadmium Chloride | decreases expression | 2 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| pradimicin-IRD | increases expression | 1 |
| 2,4,6-tribromophenol | decreases expression | 1 |
| chloroacetaldehyde | decreases expression | 1 |
| alpha-pinene | increases oxidation, increases abundance, affects cotreatment | 1 |
| pirinixic acid | increases activity, increases expression, affects binding | 1 |
| Nonidet P-40 | decreases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| 3,4,5,3’,4’-pentachlorobiphenyl | affects cotreatment, decreases expression | 1 |
| 4-hydroxy-2-nonenal | decreases expression | 1 |
| coumarin | decreases phosphorylation | 1 |
Cellosaurus cell lines
170 cell lines: 108 finite cell line, 52 transformed cell line, 8 cancer cell line, 2 induced pluripotent stem cell
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_1F18 | XPH310BE LCL | Transformed cell line | Female |
| CVCL_1F27 | XPH206BE LCL | Transformed cell line | Male |
| CVCL_1F32 | XPH207BE LCL | Transformed cell line | Female |
| CVCL_1F33 | XP67TMA | Finite cell line | Male |
| CVCL_1F34 | XP68TMA | Finite cell line | Female |
| CVCL_1F35 | XP69TMA LCL | Transformed cell line | Male |
| CVCL_1F36 | XP69TMA | Finite cell line | Male |
| CVCL_1F37 | XP72TMA LCL | Transformed cell line | Female |
| CVCL_1F38 | XP72TMA | Finite cell line | Female |
| CVCL_1F39 | XP73TMA LCL | Transformed cell line | Female |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00190697 | PHASE4 | COMPLETED | A Study of LY353381 (Arzoxifene) for Patients Who Benefitted From This Drug in Other Oncology Trials and Wished to Continue Treatment |
| NCT00277160 | PHASE4 | COMPLETED | A Study of Primary Prophylaxis With Neulasta (Pegfilgrastim) Versus Secondary Prophylaxis After Chemotherapy in Elderly Subjects (>/= 65 Years Old) With Cancer |
| NCT00727961 | PHASE4 | COMPLETED | A Study to Evaluate Efficacy and Tolerance of Caelyx in Patients With Epithelial Ovarian Cancer. (Study P04072)(COMPLETED) |
| NCT00740116 | PHASE4 | COMPLETED | Tranexamic Acid in Surgery of Advanced Ovarian Cancer |
| NCT00817479 | PHASE4 | COMPLETED | Tumor Gene Expression in Women With Ovarian Cancer |
| NCT01432015 | PHASE4 | COMPLETED | Fosaprepitant Versus Aprepitant in the Prevention of Chemotherapy Induced Nausea and Vomiting |
| NCT01706120 | PHASE4 | UNKNOWN | Study of Clinical and Biological Prognostic Factors in Patients With Ovarian Cancer Receiving Carboplatin +Paclitaxel With Bevacizumab |
| NCT01932125 | PHASE4 | COMPLETED | An Interventional Study of Avastin (Bevacizumab) in Patients With Advanced/Metastatic Epithelial Ovarian Cancer, Fallopian Tube Cancer or Primary Peritoneal Cancer |
| NCT01953107 | PHASE4 | COMPLETED | Oral Iron vs. Placebo in Newly Diagnosed Gynecologic Oncology Patients Who Are Surgical Candidates. |
| NCT02035345 | PHASE4 | TERMINATED | Slowed Carboplatin Infusion for Ovarian Cancer Patients Receiving Carboplatin Re-Treatment |
| NCT02243059 | PHASE4 | WITHDRAWN | Magnetic Resonance Imaging for Lymph Node Staging in Ovarian Cancer |
| NCT03164980 | PHASE4 | TERMINATED | QoL-Comparison Between Trabectedin/PLD and Pt-based Therapy in Patients With Pt-sensitive Recurrent Ovarian Cancer |
| NCT03384511 | PHASE4 | COMPLETED | The Use of 18F-ALF-NOTA-PRGD2 PET/CT Scan to Predict the Efficacy and Adverse Events of Apatinib in Malignancies. |
| NCT03543462 | PHASE4 | COMPLETED | Diaphragmatic Resection And Gynecological Ovarian Neoplasm |
| NCT03752216 | PHASE4 | COMPLETED | NIraparib and Quality of LifE is a Longitudinal Study Evaluating in Real Life the Tolerability of Niraparib. |
| NCT03858166 | PHASE4 | TERMINATED | Efficacy and Safety of PEG-rhG-CSF Secondary Prophylaxis vs. Therapeutic Administration in Patients With Ovarian Cancer |
| NCT04024254 | PHASE4 | COMPLETED | A Study of Serum Folate Levels in Patients Treated With Olaparib |
| NCT04330040 | PHASE4 | COMPLETED | Prospective Multicentre Phase-IV Clinical Trial of Olaparib in Indian Patients With Ovarian and Metastatic Breast Cancer |
| NCT04352439 | PHASE4 | COMPLETED | Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy |
| NCT05187208 | PHASE4 | UNKNOWN | PARP Inhibitor Oral Maintenance in Low-Risk Ovarian Cancer |
| NCT05606692 | PHASE4 | RECRUITING | Influences of Propofol and Sevoflurane Anesthesia in Ovarian Cancer (Anesthetics) |
| NCT05926336 | PHASE4 | RECRUITING | The Effects of Using Different Anesthetics on the Prognosis of Primary Tumors and Its Mechanism of Action |
| NCT06412120 | PHASE4 | RECRUITING | Study Evaluating Safety, Tolerability, and Metabolism of Niraparib |
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Related Atlas pages
- Associated diseases: xeroderma pigmentosum group C, xeroderma pigmentosum
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): hereditary neoplastic syndrome, ovarian cancer, prostate cancer, hereditary, xeroderma pigmentosum, xeroderma pigmentosum group A, xeroderma pigmentosum group C