XAB2

Summary

XAB2 (XPA binding protein 2, HGNC:14089) is a protein-coding gene on chromosome 19p13.2, encoding Pre-mRNA-splicing factor SYF1 (Q9HCS7). Involved in pre-mRNA splicing as component of the spliceosome. It is a common-essential gene (DepMap: required in 100.0% of cancer cell lines).

Involved in DNA-templated transcription; mRNA splicing, via spliceosome; and transcription-coupled nucleotide-excision repair. Located in nucleoplasm. Part of U2-type catalytic step 2 spliceosome.

Source: NCBI Gene 56949 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 169 total
• Cancer dependency (DepMap): dependent in 100.0% of screened cell lines (common-essential)
• MANE Select transcript: NM_020196

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14089
Approved symbol	XAB2
Name	XPA binding protein 2
Location	19p13.2
Locus type	gene with protein product
Status	Approved
Aliases	HCNP, HCRN, SYF1, NTC90
Ensembl gene	ENSG00000076924
Ensembl biotype	protein_coding
OMIM	610850
Entrez	56949

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 14 protein_coding, 3 retained_intron

ENST00000358368, ENST00000595288, ENST00000596134, ENST00000600230, ENST00000855696, ENST00000855697, ENST00000855698, ENST00000855699, ENST00000855700, ENST00000855701, ENST00000925815, ENST00000925816, ENST00000925817, ENST00000925818, ENST00000925819, ENST00000925820, ENST00000925821

RefSeq mRNA: 1 — MANE Select: NM_020196 NM_020196

CCDS: CCDS32892

Canonical transcript exons

ENST00000358368 — 19 exons

Exon	Start	End
ENSE00000671288	7620275	7620446
ENSE00000671328	7622331	7622444
ENSE00000671403	7626136	7626270
ENSE00000671405	7627728	7627851
ENSE00000671406	7628150	7628298
ENSE00001249041	7619747	7619856
ENSE00001249055	7620547	7620669
ENSE00001249089	7627243	7627440
ENSE00001249150	7625880	7626044
ENSE00001425529	7619525	7619647
ENSE00002248287	7629477	7629545
ENSE00003467479	7623170	7623289
ENSE00003483512	7622762	7622893
ENSE00003510487	7623731	7623882
ENSE00003570978	7619946	7620075
ENSE00003577369	7621135	7621297
ENSE00003611322	7622530	7622661
ENSE00003641694	7624301	7624445
ENSE00003664722	7620846	7621036

Expression profiles

Bgee: expression breadth ubiquitous, 191 present calls, max score 93.68.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2549 / max 160.0755, expressed in 1805 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178852	24.2549	1805

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ovary	UBERON:0002119	93.68	gold quality
granulocyte	CL:0000094	93.42	gold quality
right ovary	UBERON:0002118	93.38	gold quality
skin of leg	UBERON:0001511	92.65	gold quality
body of uterus	UBERON:0009853	92.52	gold quality
right uterine tube	UBERON:0001302	92.46	gold quality
endocervix	UBERON:0000458	92.42	gold quality
right lobe of thyroid gland	UBERON:0001119	92.29	gold quality
left lobe of thyroid gland	UBERON:0001120	92.10	gold quality
skin of abdomen	UBERON:0001416	92.05	gold quality
right testis	UBERON:0004534	91.81	gold quality
left testis	UBERON:0004533	91.75	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.74	gold quality
body of stomach	UBERON:0001161	91.70	gold quality
mucosa of stomach	UBERON:0001199	91.41	gold quality
left uterine tube	UBERON:0001303	91.41	gold quality
ectocervix	UBERON:0012249	91.41	gold quality
tibial nerve	UBERON:0001323	91.39	gold quality
popliteal artery	UBERON:0002250	91.32	gold quality
tibial artery	UBERON:0007610	91.31	gold quality
right lung	UBERON:0002167	91.09	gold quality
right hemisphere of cerebellum	UBERON:0014890	91.07	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.04	gold quality
muscle layer of sigmoid colon	UBERON:0035805	90.86	gold quality
adenohypophysis	UBERON:0002196	90.78	gold quality
cerebellar hemisphere	UBERON:0002245	90.71	gold quality
aorta	UBERON:0000947	90.69	gold quality
minor salivary gland	UBERON:0001830	90.68	gold quality
lower esophagus muscularis layer	UBERON:0035833	90.65	gold quality
lower esophagus	UBERON:0013473	90.63	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.90
E-GEOD-36552	no	41.86

Regulation

Is transcription factor: no

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 100.0% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 9)

• XAB2 complex is a multifunctional factor involved in pre-mRNA splicing, transcription, and transcription-coupled DNA repair. (PMID:17981804)
• Hematopoietic myeloid cell differentiation diminishes nucleotide excision repair and XAB2 expression. (PMID:25027282)
• Results of protein-protein interaction between human Dbr1 and factors found in the Intron Large complex identify Xab2 and a novel protein CWF19L1 as specific interactors of DBR1. (PMID:25671812)
• Study identifies XAB2 tagSNPs (rs794078 and rs4134816) significantly associated with the risk of non-small cell lung cancer (NSCLC) in Chinese population, which supports XAB2 playing significant role in the development of NSCLC. (PMID:26228655)
• we suggest that the XAB2 complex mediates DNA damage response events important for the end resection step of homologous recombination , and speculate that its adjacent-localization relative to double-strand break marked by gH2AX is important for this function (PMID:27084940)
• these results support a novel function of XAB2 in mitotic cell cycle regulation, which is partially mediated by transcription regulation on CENPE. (PMID:27735937)
• Data suggest that XPA-binding protein 2 (XAB2) serves as a guardian of RNA polymerase II subunit A (POLR2A) expression to ensure global gene expression and antagonize cell senescence. (PMID:31216022)
• XAB2 TagSNP Is Associated with the Risk of Gastric Cancer in Chinese Population: A Case-Control Study. (PMID:33557438)
• XAB2 promotes Ku eviction from single-ended DNA double-strand breaks independently of the ATM kinase. (PMID:34500463)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	xab2	ENSDARG00000007092
mus_musculus	Xab2	ENSMUSG00000019470
rattus_norvegicus	Xab2	ENSRNOG00000000988
drosophila_melanogaster	fand	FBGN0033859
caenorhabditis_elegans	syf-1	WBGENE00016837

Paralogs (2): PRPF6 (ENSG00000101161), CRNKL1 (ENSG00000101343)

Protein

Protein identifiers

Pre-mRNA-splicing factor SYF1 — Q9HCS7 (reviewed: Q9HCS7)

Alternative names: Protein HCNP, XPA-binding protein 2

All UniProt accessions (1): Q9HCS7

UniProt curated annotations — full annotation on UniProt →

Function. Involved in pre-mRNA splicing as component of the spliceosome. Involved in transcription-coupled repair (TCR), transcription and pre-mRNA splicing.

Subunit / interactions. Associates with RNA polymerase II, the TCR-specific proteins CKN1/CSA and ERCC6/CSB, and XPA. Identified in the spliceosome C complex. Component of the XAB2 complex, a multimeric protein complex composed of XAB2, PRPF19, AQR, ZNF830, ISY1, and PPIE. Identified in a pentameric intron-binding (IB) complex composed of AQR, XAB2, ISY1, ZNF830 and PPIE that is incorporated into the spliceosome as a preassembled complex. The IB complex does not contain PRPF19.

Subcellular location. Nucleus.

Similarity. Belongs to the crooked-neck family.

RefSeq proteins (1): NP_064581* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003107	HAT	Repeat
IPR011990	TPR-like_helical_dom_sf	Homologous_superfamily
IPR019734	TPR_rpt	Repeat
IPR045075	Syf1-like	Family
IPR055430	HAT_Syf1_CNRKL1_C	Domain
IPR055433	HAT_Syf1-like_N	Domain
IPR056350	HAT_Syf1_central	Domain

Pfam: PF23220, PF23231, PF23233

UniProt features (67 total): helix 36, repeat 14, sequence conflict 6, sequence variant 3, modified residue 2, turn 2, chain 1, region of interest 1, compositionally biased region 1, strand 1

Structure

Experimental structures (PDB)

26 structures.

PDB	Method	Resolution (Å)
8C6J	ELECTRON MICROSCOPY	2.8
6ID1	ELECTRON MICROSCOPY	2.86
6ID0	ELECTRON MICROSCOPY	2.9
6ICZ	ELECTRON MICROSCOPY	3
8I0R	ELECTRON MICROSCOPY	3
8I0T	ELECTRON MICROSCOPY	3
8I0V	ELECTRON MICROSCOPY	3
6QDV	ELECTRON MICROSCOPY	3.3
8I0U	ELECTRON MICROSCOPY	3.3
9FMD	ELECTRON MICROSCOPY	3.3
8I0P	ELECTRON MICROSCOPY	3.4
8I0W	ELECTRON MICROSCOPY	3.4
8RO2	ELECTRON MICROSCOPY	3.5
5XJC	ELECTRON MICROSCOPY	3.6
7W59	ELECTRON MICROSCOPY	3.6
7W5A	ELECTRON MICROSCOPY	3.6
5YZG	ELECTRON MICROSCOPY	4.1
8I0S	ELECTRON MICROSCOPY	4.2
7W5B	ELECTRON MICROSCOPY	4.3
6FF7	ELECTRON MICROSCOPY	4.5
7A5P	ELECTRON MICROSCOPY	5
5Z56	ELECTRON MICROSCOPY	5.1
5MQF	ELECTRON MICROSCOPY	5.9
8CH6	ELECTRON MICROSCOPY	5.9
5Z57	ELECTRON MICROSCOPY	6.5
7ABI	ELECTRON MICROSCOPY	8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9HCS7-F1	73.62	0.01

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 (2): 420, 851

Function

Pathways and Gene Ontology

Reactome pathways

11 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
R-HSA-72163	mRNA Splicing - Major Pathway
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-5696398	Nucleotide Excision Repair
R-HSA-72172	mRNA Splicing
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA
R-HSA-73894	DNA Repair
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 118 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_TRANSCRIPTION_COUPLED_NUCLEOTIDE_EXCISION_REPAIR, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, KAUFFMANN_DNA_REPAIR_GENES, CHANDRAN_METASTASIS_DN, GOBP_FOREBRAIN_DEVELOPMENT, SHEDDEN_LUNG_CANCER_GOOD_SURVIVAL_A5, GOBP_NUCLEOTIDE_EXCISION_REPAIR, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CEREBRAL_CORTEX_DEVELOPMENT, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, GOBP_PALLIUM_DEVELOPMENT, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_BLASTOCYST_DEVELOPMENT

GO Biological Process (11): generation of catalytic spliceosome for first transesterification step (GO:0000349), mRNA splicing, via spliceosome (GO:0000398), blastocyst development (GO:0001824), transcription-coupled nucleotide-excision repair (GO:0006283), DNA-templated transcription (GO:0006351), cerebral cortex development (GO:0021987), DNA repair (GO:0006281), RNA processing (GO:0006396), mRNA processing (GO:0006397), DNA damage response (GO:0006974), RNA splicing (GO:0008380)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (8): Prp19 complex (GO:0000974), nucleus (GO:0005634), nucleoplasm (GO:0005654), membrane (GO:0016020), U2-type catalytic step 2 spliceosome (GO:0071007), catalytic step 2 spliceosome (GO:0071013), post-mRNA release spliceosomal complex (GO:0071014), spliceosomal complex (GO:0005681)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	3
Nucleotide Excision Repair	1
mRNA Splicing	1
Dengue Virus Infection	1
DNA Repair	1
Processing of Capped Intron-Containing Pre-mRNA	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
anatomical structure development	2
gene expression	2
RNA biosynthetic process	2
RNA processing	2
cellular anatomical structure	2
spliceosomal complex	2
U5 snRNP	2
spliceosomal conformational changes to generate catalytic conformation	1
protein-RNA complex assembly	1
RNA splicing, via transesterification reactions with bulged adenosine as nucleophile	1
mRNA processing	1
in utero embryonic development	1
nucleotide-excision repair	1
pallium development	1
DNA metabolic process	1
DNA damage response	1
primary metabolic process	1
mRNA metabolic process	1
cellular response to stress	1
binding	1
protein-containing complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
U2-type spliceosomal complex	1
U2 snRNP	1
U6 snRNP	1
catalytic step 2 spliceosome	1
Prp19 complex	1
catalytic complex	1
nuclear protein-containing complex	1
ribonucleoprotein complex	1

Protein interactions and networks

STRING

2709 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
XAB2	CDC5L	Q99459	981
XAB2	XPA	P23025	972
XAB2	HMGN1	P05114	936
XAB2	ERCC8	Q13216	897
XAB2	TCEA1	P23193	896
XAB2	SYF2	O95926	887
XAB2	BCAS2	O75934	870
XAB2	ERCC6	Q03468	852
XAB2	PRPF19	Q9UMS4	830
XAB2	CDC40	O60508	814
XAB2	AQR	O60306	799
XAB2	RBM22	Q9NW64	786
XAB2	ZNF830	Q96NB3	785
XAB2	DHX15	O43143	772
XAB2	SNRPA1	P09661	746

IntAct

232 interactions, top by confidence:

A	B	Type	Score
XAB2	PPIE	psi-mi:“MI:0915”(physical association)	0.910
PPIE	XAB2	psi-mi:“MI:0915”(physical association)	0.910
SNRPF	GEMIN2	psi-mi:“MI:0914”(association)	0.910
CDK8	MED19	psi-mi:“MI:2364”(proximity)	0.850
PPIE	AQR	psi-mi:“MI:0914”(association)	0.810
PRPF19	AQR	psi-mi:“MI:0914”(association)	0.790
XAB2	ISY1	psi-mi:“MI:0915”(physical association)	0.770
PRPF19	PLRG1	psi-mi:“MI:0914”(association)	0.770
SNRPE	GEMIN2	psi-mi:“MI:0914”(association)	0.770
AQR	ZNF830	psi-mi:“MI:0915”(physical association)	0.760
AQR	ZNF830	psi-mi:“MI:0914”(association)	0.760
AQR	XAB2	psi-mi:“MI:0407”(direct interaction)	0.740
ISY1	AQR	psi-mi:“MI:0914”(association)	0.740
SYF2	AQR	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
SNRPG	GEMIN2	psi-mi:“MI:0914”(association)	0.710
SNRPA1	XAB2	psi-mi:“MI:0407”(direct interaction)	0.690
SNRPB	PRMT5	psi-mi:“MI:0914”(association)	0.670

BioGRID (296): XAB2 (Two-hybrid), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Affinity Capture-MS), XAB2 (Two-hybrid), AQR (Co-fractionation), CDC40 (Co-fractionation)

ESM2 similar proteins: A1A5S1, A1Z9G2, B3DJT0, B3MIF1, O01422, O74970, O94906, P0CO10, P0CO11, P17886, P25991, P63154, P63155, P87312, Q12309, Q12381, Q15020, Q2KJJ0, Q4KLU2, Q4PB37, Q4WT84, Q4WVF4, Q527H0, Q52DF3, Q54XP4, Q54Z08, Q5B3U7, Q5BDX1, Q5BH69, Q5K654, Q5RCC2, Q5REG1, Q6BSP7, Q6C186, Q6CAR6, Q750X3, Q7SAK5, Q7SGD2, Q7SI58, Q86UA1

Diamond homologs: A1Z9G2, P0CO08, P0CO09, Q4P7S1, Q4WVF4, Q52DF3, Q54Z08, Q5BH69, Q6BQ23, Q6CAR6, Q7SAK5, Q99PK0, Q9DCD2, Q9HCS7, Q9P7R9, Q75EF0

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
DNA_damage	up-regulates	XAB2
XAB2	“up-regulates activity”	RAD23B

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 165 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
Metabolism of non-coding RNA	6	34.9×	3e-07
mRNA Splicing	27	27.2×	5e-30
mRNA Splicing - Major Pathway	48	24.1×	6e-53
mRNA Splicing - Minor Pathway	11	22.6×	8e-11
RNA Polymerase II Transcription Termination	11	22.2×	9e-11
Processing of Capped Intron-Containing Pre-mRNA	29	21.9×	2e-29
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	8	19.5×	2e-07
mRNA Polyadenylation	24	19.3×	7e-23

GO biological processes:

GO term	Partners	Fold	FDR
U2-type prespliceosome assembly	9	41.0×	1e-10
spliceosomal snRNP assembly	9	38.2×	2e-10
negative regulation of mRNA splicing, via spliceosome	5	28.0×	8e-05
mRNA splicing, via spliceosome	40	26.7×	7e-44
RNA splicing, via transesterification reactions	5	22.8×	2e-04
spliceosomal complex assembly	5	22.0×	2e-04
RNA splicing	24	15.5×	2e-19
RNA processing	7	11.2×	2e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	139
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2680 predictions. Top by Δscore:

Variant	Effect	Δscore
19:7619741:CCTCA:C	donor_loss	1.0000
19:7619742:CTCA:C	donor_loss	1.0000
19:7619743:TCA:T	donor_loss	1.0000
19:7619744:CA:C	donor_loss	1.0000
19:7619745:A:C	donor_loss	1.0000
19:7619852:CACTC:C	acceptor_gain	1.0000
19:7619854:CTC:C	acceptor_gain	1.0000
19:7619857:C:CC	acceptor_gain	1.0000
19:7619858:T:C	acceptor_loss	1.0000
19:7619942:TCACC:T	donor_loss	1.0000
19:7619943:CACCT:C	donor_loss	1.0000
19:7619945:C:CG	donor_loss	1.0000
19:7619945:CCT:C	donor_gain	1.0000
19:7620071:AGACA:A	acceptor_gain	1.0000
19:7620072:GACA:G	acceptor_gain	1.0000
19:7620073:ACA:A	acceptor_gain	1.0000
19:7620073:ACAC:A	acceptor_loss	1.0000
19:7620074:CA:C	acceptor_gain	1.0000
19:7620074:CAC:C	acceptor_gain	1.0000
19:7620075:ACTAG:A	acceptor_loss	1.0000
19:7620076:C:A	acceptor_loss	1.0000
19:7620076:C:CC	acceptor_gain	1.0000
19:7620446:TCT:T	acceptor_loss	1.0000
19:7620545:A:AT	donor_loss	1.0000
19:7620545:AC:A	donor_gain	1.0000
19:7620546:CC:C	donor_gain	1.0000
19:7620561:T:C	donor_gain	1.0000
19:7620668:ACCTG:A	acceptor_loss	1.0000
19:7620678:C:CT	acceptor_gain	1.0000
19:7620679:G:T	acceptor_gain	1.0000

AlphaMissense

5608 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:7621179:A:G	L579P	1.000
19:7625949:G:C	F251L	1.000
19:7625949:G:T	F251L	1.000
19:7625951:A:G	F251L	1.000
19:7620397:C:A	G715V	0.999
19:7620397:C:T	G715D	0.999
19:7620422:A:G	W707R	0.999
19:7620422:A:T	W707R	0.999
19:7620429:C:A	W704C	0.999
19:7620429:C:G	W704C	0.999
19:7620431:A:G	W704R	0.999
19:7620431:A:T	W704R	0.999
19:7620618:C:T	E675K	0.999
19:7620854:C:G	A655P	0.999
19:7620886:C:T	G644E	0.999
19:7620902:C:G	A639P	0.999
19:7620961:G:T	A619D	0.999
19:7620962:C:G	A619P	0.999
19:7621185:C:G	R577P	0.999
19:7621267:A:G	W550R	0.999
19:7621267:A:T	W550R	0.999
19:7621271:G:C	F548L	0.999
19:7621271:G:T	F548L	0.999
19:7621273:A:G	F548L	0.999
19:7621285:C:G	G544R	0.999
19:7622386:A:T	V521D	0.999
19:7622555:A:G	L493P	0.999
19:7622574:A:G	W487R	0.999
19:7622574:A:T	W487R	0.999
19:7622597:C:G	R479P	0.999

dbSNP variants (sampled 300 via entrez): RS1000498679 (19:7627552 C>A,T), RS1000550851 (19:7627312 C>A,T), RS1000794029 (19:7623257 C>A,T), RS1000826676 (19:7623345 G>A), RS1001255865 (19:7630096 C>G), RS1001489694 (19:7625373 G>T), RS1001503774 (19:7628944 G>A), RS1001554440 (19:7628678 C>T), RS1001603852 (19:7629831 G>A), RS1001852438 (19:7624248 C>T), RS1002452108 (19:7625123 G>A), RS1002509734 (19:7630086 G>A), RS1002562020 (19:7629760 A>C), RS1002667430 (19:7629212 C>T), RS1002868048 (19:7631300 C>A,G,T)

Disease associations

OMIM: gene MIM:610850 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects cotreatment, increases abundance, increases expression, decreases expression	3
Benzo(a)pyrene	affects methylation, decreases expression	3
Arsenic	decreases expression, affects cotreatment, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
GSK-J4	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
manganese chloride	increases expression, affects cotreatment, increases abundance	1
ochratoxin A	affects cotreatment, increases expression	1
cylindrospermopsin	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Decitabine	increases expression	1
Atrazine	increases expression	1
Citrinin	affects cotreatment, increases expression	1
Dichlorvos	affects response to substance	1
Ivermectin	decreases expression	1
Manganese	affects cotreatment, increases abundance, increases expression	1
Mustard Gas	decreases expression	1
Smoke	decreases expression	1
Tretinoin	decreases response to substance	1
Urethane	increases expression	1
Cyclosporine	increases expression	1
Uranium Compounds	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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