UVSSA

Summary

UVSSA (UV stimulated scaffold protein A, HGNC:29304) is a protein-coding gene on chromosome 4p16.3, encoding UV-stimulated scaffold protein A (Q2YD98). Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.

The protein encoded by this gene appears to be involved in ubiquitination and dephosphorylation of RNA polymerase II subunits that stall after UV irradiation. The encoded protein interacts with several members of the nucleotide excision repair complex, and is thought to be involved in the transcription-coupled nucleotide excision repair (TC-NER) pathway to help remove lesions in the DNA that block transcription. Defects in this gene can cause UV-sensitive syndrome 3. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 57654 — RefSeq curated summary.

At a glance

• Gene–disease (curated): UV-sensitive syndrome 3 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 226 total — 6 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 7
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
• MANE Select transcript: NM_020894

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29304
Approved symbol	UVSSA
Name	UV stimulated scaffold protein A
Location	4p16.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163945
Ensembl biotype	protein_coding
OMIM	614632
Entrez	57654

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 17 protein_coding, 4 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000389851, ENST00000503548, ENST00000505716, ENST00000507422, ENST00000507531, ENST00000511216, ENST00000511563, ENST00000512728, ENST00000677286, ENST00000677428, ENST00000678994, ENST00000679192, ENST00000679242, ENST00000879149, ENST00000879150, ENST00000879151, ENST00000934789, ENST00000934790, ENST00000934791, ENST00000934792, ENST00000934793, ENST00000934794, ENST00000934795, ENST00000946603

RefSeq mRNA: 3 — MANE Select: NM_020894 NM_001317934, NM_001317935, NM_020894

CCDS: CCDS33938

Canonical transcript exons

ENST00000389851 — 14 exons

Exon	Start	End
ENSE00001199667	1383766	1383940
ENSE00001199675	1380047	1380230
ENSE00001199681	1376034	1376168
ENSE00001493969	1385868	1388049
ENSE00001533108	1347208	1347760
ENSE00001680079	1366320	1366431
ENSE00001683285	1349524	1349854
ENSE00001712443	1353030	1353413
ENSE00001713804	1354735	1354847
ENSE00001793449	1351715	1351835
ENSE00001793973	1355117	1355245
ENSE00002689177	1348090	1348189
ENSE00003570276	1375364	1375508
ENSE00003645049	1380880	1380988

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 98.95.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.6263 / max 223.1221, expressed in 1619 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
46553	4.1595	1582
46552	0.4668	202

Top tissues by expression

256 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oviduct epithelium	UBERON:0004804	98.95	gold quality
pancreatic ductal cell	CL:0002079	98.05	gold quality
corpus epididymis	UBERON:0004359	96.79	gold quality
caput epididymis	UBERON:0004358	95.98	gold quality
ileal mucosa	UBERON:0000331	95.92	gold quality
cauda epididymis	UBERON:0004360	95.33	gold quality
buccal mucosa cell	CL:0002336	95.32	gold quality
right uterine tube	UBERON:0001302	95.20	gold quality
sperm	CL:0000019	95.01	gold quality
upper arm skin	UBERON:0004263	94.81	gold quality
tibia	UBERON:0000979	94.61	gold quality
skin of hip	UBERON:0001554	94.58	gold quality
nipple	UBERON:0002030	94.20	gold quality
sural nerve	UBERON:0015488	94.17	gold quality
visceral pleura	UBERON:0002401	93.97	gold quality
parietal pleura	UBERON:0002400	93.04	gold quality
esophagus squamous epithelium	UBERON:0006920	93.04	gold quality
tibialis anterior	UBERON:0001385	92.82	gold quality
upper leg skin	UBERON:0004262	92.61	gold quality
endothelial cell	CL:0000115	92.13	gold quality
pylorus	UBERON:0001166	92.04	gold quality
pituitary gland	UBERON:0000007	91.59	gold quality
nasal cavity epithelium	UBERON:0005384	91.21	gold quality
adult organism	UBERON:0007023	90.80	gold quality
kidney epithelium	UBERON:0004819	90.56	gold quality
trabecular bone tissue	UBERON:0002483	90.55	gold quality
adenohypophysis	UBERON:0002196	90.40	gold quality
seminal vesicle	UBERON:0000998	90.21	gold quality
trachea	UBERON:0003126	89.76	gold quality
layer of synovial tissue	UBERON:0007616	89.59	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

79 targeting UVSSA, 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-3613-3P	100.00	76.36	7965
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-557	99.96	70.01	1640
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-1305	99.91	71.43	3443
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798
HSA-MIR-16-5P	99.90	72.80	2780
HSA-MIR-195-5P	99.90	72.81	2805
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-579-3P	99.86	71.66	3628
HSA-MIR-664B-3P	99.84	71.65	3590
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AJ-5P	99.78	71.12	3085

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 17)

• Mutations in the UVSSA gene is associated with UV-sensitive syndrome. (PMID:22466610)
• Mutations in UVSSA cause UV-sensitive syndrome and recruits USP7 to regulate transcription-coupled repair. (PMID:22466611)
• Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PMID:22466612)
• KIAA1530 is an important player in TCR but also lead to a better understanding of the molecular mechanism underlying UV(s)S syndrome. (PMID:22902626)
• Human UVSSA protein is required for the ubiquitination of RNA polymerase and DNA repair after light-induced DNA damage [review]. (PMID:23631307)
• UVSSA together with USP7 is implicated in regulating transcription-coupled DNA repair.[review] (PMID:23760561)
• stabilization of UVSSA by interaction with USP7 is essential for Transcription-coupled Nucleotide Excision Repair (PMID:27129218)
• Data suggest that a common TFIIH subunit p62 recruitment mechanism is shared by UV-stimulated scaffold protein A (UVSSA) in transcription-coupled repair (TCR) and xeroderma pigmentosum, complementation group C protein (XPC) in global genome repair (GGR). (PMID:29069470)
• UVSSA is mono-ubiquitinated in vitro. Lys(414) is the target of ubiquitination. Lys(414) was also modified by poly-ubiquitin chains in vivo. The substitution of Lys(414) by Arg of UVSSA inhibited its degradation and thereby suppressed the deficiency in transcription-coupled nucleotide excision repair. (PMID:29323787)
• FACT subunit Spt16 controls UVSSA recruitment to lesion-stalled RNA Pol II and stimulates transcription-coupled nucleotide excision repair. (PMID:30715484)
• Study reports nine UV-sensitive syndrome cases from two Pakistani families with a novel homozygous nonsense mutation, (c.1040 G > A [p.(Trp347*)]) in exon 6 of the UVSSA gene. (PMID:31421932)
• USP7-mediated deubiquitination differentially regulates CSB but not UVSSA upon UV radiation-induced DNA damage. (PMID:31775559)
• TCR is initiated by RNAPIIo-bound CSB, which recruits CSA through a newly identified CSA-interaction motif (CIM); once recruited, CSA facilitates the association of UVSSA with stalled RNAPIIo; in addition, UVSSA is the key factor that recruits the TFIIH complex in a manner that is stimulated by CSB and CSA (PMID:32355176)
• The UVSSA complex alleviates MYC-driven transcription stress. (PMID:33404608)
• The UVSSA protein is part of a genome integrity homeostasis network with links to transcription-coupled DNA repair and ATM signaling. (PMID:35254895)
• Transcription coupled DNA repair protein UVSSA binds to DNA and RNA: Mapping of nucleic acid interaction sites on human UVSSA. (PMID:36623745)
• Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein. (PMID:37442507)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Uvssa	ENSMUSG00000037355
rattus_norvegicus	Uvssa	ENSRNOG00000005122

Protein

Protein identifiers

UV-stimulated scaffold protein A — Q2YD98 (reviewed: Q2YD98)

All UniProt accessions (5): A0A7I2V3L2, A0A7I2V4K1, A0A7I2V554, Q2YD98, H0Y924

UniProt curated annotations — full annotation on UniProt →

Function. Factor involved in transcription-coupled nucleotide excision repair (TC-NER), a mechanism that rapidly removes RNA polymerase II-blocking lesions from the transcribed strand of active genes. Acts as a key adapter that promotes recruitment of factors involved in TC-NER. Facilitates the ubiquitination of the elongating form of RNA polymerase II (RNA pol IIo) at DNA damage sites, thereby promoting RNA pol IIo backtracking and access by the TC-NER machinery to lesion sites. Also promotes stabilization of ERCC6/CSB by recruiting deubiquitinating enzyme USP7 to TC-NER complexes, preventing UV-induced degradation of ERCC6 by the proteasome. Mediates the recruitment of the TFIIH complex and other factors that are required for nucleotide excision repair to RNA polymerase II. Also required to inactivate stalled RNA polymerase II by blocking the access of TCEA1/TFIIS, thereby preventing reactivation of RNA polymerase II. Not involved in processing oxidative damage.

Subunit / interactions. Interacts with the elongating form of RNA polymerase II (RNA pol IIo) during transcription stress. Interacts with the TFIIH complex during transcription stress. Interacts with ERCC6. Interacts with ERCC8. Interacts with USP7.

Subcellular location. Chromosome.

Post-translational modifications. Monoubiquitinated at Lys-414 in response to transcription stress; this promotes efficient transfer of TFIIH to stalled RNA polymerase II.

Disease relevance. UV-sensitive syndrome 3 (UVSS3) [MIM:614640] An autosomal recessive disorder characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the UVSSA family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q2YD98-1	1	yes
Q2YD98-2	2

RefSeq proteins (3): NP_001304863, NP_001304864, NP_065945* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008942	ENTH_VHS	Homologous_superfamily
IPR018610	UVSSA	Family
IPR049408	UVSSA_N_a-solenoid_rpt	Repeat
IPR049431	UVSSA_C	Domain

Pfam: PF09740, PF20867

UniProt features (60 total): helix 12, mutagenesis site 9, compositionally biased region 7, strand 7, region of interest 6, sequence variant 5, binding site 4, turn 3, modified residue 2, chain 1, zinc finger region 1, cross-link 1, splice variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

12 structures.

PDB	Method	Resolution (Å)
9BZ0	ELECTRON MICROSCOPY	1.9
8B3D	ELECTRON MICROSCOPY	2.6
7OO3	ELECTRON MICROSCOPY	2.8
7OOP	ELECTRON MICROSCOPY	2.9
7OPC	ELECTRON MICROSCOPY	3
7OPD	ELECTRON MICROSCOPY	3
9ER2	ELECTRON MICROSCOPY	3.3
8QH5	ELECTRON MICROSCOPY	3.4
9FD2	ELECTRON MICROSCOPY	3.4
9HWG	ELECTRON MICROSCOPY	3.5
8B3G	ELECTRON MICROSCOPY	4.4
5XV8	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q2YD98-F1	74.50	0.29

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 567; 577; 585; 588

Post-translational modifications (3): 281, 287, 414

Mutagenesis-validated functional residues (9):

Position	Phenotype
120	impairs transcription-coupled nucleotide excision repair ability.
157–159	impairs transcription-coupled nucleotide excision repair ability.
408	impairs interaction with the tfiih complex.
411	impairs interaction with the tfiih complex.
567	defects in transcription-coupled nucleotide excision repair (tc-ner); when associated witha-577, a-585 and a-588.
577	defects in transcription-coupled nucleotide excision repair (tc-ner); when associated with a-567, a-585 and a-588.
585	defects in transcription-coupled nucleotide excision repair (tc-ner); when associated with a-567, a-577 and a-588.
588	defects in transcription-coupled nucleotide excision repair (tc-ner); when associated with a-567, a-577 and a-585.
679–683	does not affect transcription-coupled nucleotide excision repair (tc-ner).

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
R-HSA-6782135	Dual incision in TC-NER
R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER

MSigDB gene sets: 118 (showing top): GOBP_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR, GOBP_NUCLEOTIDE_EXCISION_REPAIR, GOBP_RESPONSE_TO_UV, GOBP_DNA_DAMAGE_RESPONSE, GOBP_RESPONSE_TO_RADIATION, chr4p16, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, REACTOME_DNA_REPAIR, GOBP_RESPONSE_TO_LIGHT_STIMULUS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GARY_CD5_TARGETS_UP, GOBP_DNA_METABOLIC_PROCESS

GO Biological Process (6): transcription-coupled nucleotide-excision repair (GO:0006283), response to UV (GO:0009411), protein ubiquitination (GO:0016567), DNA repair (GO:0006281), chromatin organization (GO:0006325), DNA damage response (GO:0006974)

GO Molecular Function (6): RNA polymerase II complex binding (GO:0000993), zinc ion binding (GO:0008270), chromatin-protein adaptor activity (GO:0140463), RNA polymerase inhibitor activity (GO:0140870), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), site of DNA damage (GO:0090734)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	3
Nucleotide Excision Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
nucleotide-excision repair	1
response to light stimulus	1
protein modification by small protein conjugation	1
DNA metabolic process	1
DNA damage response	1
cellular component organization	1
cellular response to stress	1
RNA polymerase core enzyme binding	1
transition metal ion binding	1
chromatin binding	1
chromatin organization	1
protein-macromolecule adaptor activity	1
enzyme inhibitor activity	1
RNA polymerase activity	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular membraneless organelle	1
chromosome	1

Protein interactions and networks

STRING

870 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UVSSA	USP7	Q93009	981
UVSSA	ERCC8	Q13216	917
UVSSA	ERCC6	Q03468	910
UVSSA	HMGN1	P05114	790
UVSSA	XPA	P23025	767
UVSSA	ERCC3	P19447	763
UVSSA	ERCC2	P18074	763
UVSSA	XAB2	Q9HCS7	715
UVSSA	GTF2H1	P32780	675
UVSSA	ELOF1	P60002	657
UVSSA	RAD23B	P54727	640
UVSSA	ERCC1	P07992	639
UVSSA	DDB1	Q16531	603
UVSSA	DDB2	Q92466	602
UVSSA	CUL4A	Q13619	570

IntAct

10 interactions, top by confidence:

A	B	Type	Score
MAGEA4	UVSSA	psi-mi:“MI:0915”(physical association)	0.560
KPNA3	UVSSA	psi-mi:“MI:0915”(physical association)	0.560
UVSSA	E6	psi-mi:“MI:0915”(physical association)	0.370
SYNCRIP	ARHGAP32	psi-mi:“MI:0914”(association)	0.350
BAG6	CNOT1	psi-mi:“MI:0914”(association)	0.350
UVSSA	KPNA3	psi-mi:“MI:0915”(physical association)	0.000
UVSSA	MAGEA4	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (69): UVSSA (Affinity Capture-MS), UVSSA (Affinity Capture-MS), USP7 (Affinity Capture-Western), UVSSA (Affinity Capture-Western), USP7 (Reconstituted Complex), UVSSA (Affinity Capture-RNA), UVSSA (Biochemical Activity), UVSSA (Biochemical Activity), UVSSA (Biochemical Activity), UVSSA (Biochemical Activity), UVSSA (Biochemical Activity), USP7 (Affinity Capture-Western), ERCC8 (Affinity Capture-Western), UVSSA (Affinity Capture-MS), UVSSA (Two-hybrid)

ESM2 similar proteins: A0A1S4D1D3, A0A1W2PR95, A0A8I6ASZ5, A8WE67, D2K8N5, D3Z8X7, D3ZND0, E1C760, E7EXT2, F6Y9J3, F7AEX0, O08836, O60308, P27641, P54729, P78318, Q0P4W3, Q14CX7, Q15021, Q2QY04, Q2YD98, Q3ZC62, Q4V8E4, Q5EAU9, Q61249, Q68FJ0, Q6NY52, Q6PBQ2, Q6PGY6, Q6QI44, Q7ZXA8, Q80V31, Q86VS3, Q8BWZ3, Q8C6E0, Q8C9J3, Q8IYW2, Q8K2Z4, Q8LDQ4, Q8LNU5

Diamond homologs: A8XY47, D3ZND0, E1C760, E7EXT2, F1MX48, F7AEX0, Q23088, Q2YD98, Q9D479, Q9M358

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

226 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	4
Uncertain significance	158
Likely benign	31
Benign	5

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1072563	NM_020894.4(UVSSA):c.1748del (p.Leu583fs)	Pathogenic
31569	NM_020894.4(UVSSA):c.367A>T (p.Lys123Ter)	Pathogenic
31570	NM_020894.4(UVSSA):c.87del (p.Ile31fs)	Pathogenic
31571	NM_020894.4(UVSSA):c.94T>C (p.Cys32Arg)	Pathogenic
3778561	NM_020894.4(UVSSA):c.430-1G>C	Pathogenic
4530689	NM_020894.4(UVSSA):c.250C>T (p.Gln84Ter)	Pathogenic
3383367	NM_020894.4(UVSSA):c.-2_12dup (p.Leu5fs)	Likely pathogenic
4534801	NM_020894.4(UVSSA):c.1471A>T (p.Lys491Ter)	Likely pathogenic
4845707	NM_020894.4(UVSSA):c.707_713del (p.Gly236fs)	Likely pathogenic
4849428	NM_020894.4(UVSSA):c.909C>G (p.Tyr303Ter)	Likely pathogenic

SpliceAI

4522 predictions. Top by Δscore:

Variant	Effect	Δscore
4:1348190:G:GG	donor_gain	1.0000
4:1353409:CTCAG:C	donor_loss	1.0000
4:1353410:TCAG:T	donor_loss	1.0000
4:1353411:CAGGT:C	donor_loss	1.0000
4:1353413:GG:G	donor_loss	1.0000
4:1353414:G:C	donor_loss	1.0000
4:1354731:CCA:C	acceptor_loss	1.0000
4:1354733:A:AG	acceptor_gain	1.0000
4:1354733:A:T	acceptor_loss	1.0000
4:1354733:AGAG:A	acceptor_gain	1.0000
4:1354733:AGAGG:A	acceptor_gain	1.0000
4:1354734:G:GA	acceptor_gain	1.0000
4:1354734:GA:G	acceptor_gain	1.0000
4:1354734:GAGG:G	acceptor_gain	1.0000
4:1354734:GAGGG:G	acceptor_gain	1.0000
4:1354845:CAGGT:C	donor_loss	1.0000
4:1354848:G:GG	donor_gain	1.0000
4:1354848:GTGA:G	donor_loss	1.0000
4:1355228:G:GT	donor_gain	1.0000
4:1355229:G:T	donor_gain	1.0000
4:1366421:GCC:G	donor_gain	1.0000
4:1366427:GTATG:G	donor_gain	1.0000
4:1376169:G:GG	donor_gain	1.0000
4:1380228:AAGG:A	donor_loss	1.0000
4:1380229:AGG:A	donor_loss	1.0000
4:1380230:GGTG:G	donor_loss	1.0000
4:1380231:G:GA	donor_loss	1.0000
4:1380878:A:AG	acceptor_gain	1.0000
4:1380879:G:GA	acceptor_gain	1.0000
4:1380879:GT:G	acceptor_gain	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS10000012 (4:1363537 C>G), RS1000006719 (4:1363607 C>T), RS10000797 (4:1351859 G>A), RS1000100739 (4:1387190 G>C,T), RS1000138163 (4:1367842 C>T), RS1000158457 (4:1354567 A>G), RS1000170966 (4:1379471 C>T), RS1000220791 (4:1351222 C>T), RS1000286524 (4:1353251 C>T), RS1000330303 (4:1356376 C>A,T), RS1000382406 (4:1371789 C>G), RS1000398019 (4:1375674 T>G), RS1000408212 (4:1349034 C>T), RS1000416466 (4:1349465 C>T), RS10004411 (4:1360518 T>G)

Disease associations

OMIM: gene MIM:614632 | disease phenotypes: MIM:614640

GenCC curated gene-disease

Disease	Classification	Inheritance
UV-sensitive syndrome 3	Definitive	Autosomal recessive
UV-sensitive syndrome	Supportive	Autosomal recessive

Mondo (2): UV-sensitive syndrome 3 (MONDO:0013834), UV-sensitive syndrome (MONDO:0015797)

Orphanet (1): UV-sensitive syndrome (Orphanet:178338)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000958	Dry skin
HP:0000992	Cutaneous photosensitivity
HP:0001009	Telangiectasia
HP:0001480	Freckling
HP:0003224	Increased cellular sensitivity to UV light
HP:0003593	Infantile onset

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST001762_858	Obesity-related traits	2.000000e-06
GCST003670_13	Systolic blood pressure	7.000000e-06
GCST007576_142	Chronotype	1.000000e-08
GCST90000025_253	Appendicular lean mass	4.000000e-14

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006335	systolic blood pressure
EFO:0008328	chronotype measurement
EFO:0004980	appendicular lean mass

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563466	UV-Sensitive Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, increases expression	2
Methotrexate	increases expression	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
2,5,2’,5’-tetrachlorobiphenyl	increases expression	1
sodium arsenite	decreases expression	1
benzo(e)pyrene	increases methylation	1
aflatoxin B2	decreases methylation	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
2-palmitoylglycerol	increases expression	1
abrine	increases expression	1
Sunitinib	increases expression	1
Acetaminophen	decreases expression	1
Arsenic	increases methylation	1
Benzo(a)pyrene	affects methylation	1
Cisplatin	decreases expression	1
Methapyrilene	increases methylation	1
Ozone	affects expression, increases abundance	1
Smoke	decreases expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	increases methylation	1
Aflatoxin B1	increases methylation	1
Gold Compounds	increases expression	1
Cadmium Chloride	increases expression	1

Cellosaurus cell lines

8 cell lines: 7 finite cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_F513	XP70TO	Finite cell line	Female
CVCL_F514	XP24KO	Finite cell line	Female
CVCL_TX22	HAP1 UVSSA (-)	Cancer cell line	Male
CVCL_ZP13	UVSS24TA	Finite cell line
CVCL_ZP15	Kps3	Finite cell line	Female
CVCL_ZP16	Kps2	Finite cell line	Male
CVCL_ZT07	Kps23F	Finite cell line	Male
CVCL_ZT08	Kps23M	Finite cell line	Female

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.