BOP1

Summary

BOP1 (BOP1 ribosomal biogenesis factor, HGNC:15519) is a protein-coding gene on chromosome 8q24.3, encoding Ribosome biogenesis protein BOP1 (Q14137). Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome. It is a common-essential gene (DepMap: required in 99.1% of cancer cell lines).

Enables RNA binding activity. Involved in regulation of cell cycle; regulation of signal transduction by p53 class mediator; and ribosomal large subunit biogenesis. Located in chromosome; nucleolus; and nucleoplasm. Part of PeBoW complex.

Source: NCBI Gene 23246 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 38 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 99.1% of screened cell lines (common-essential)
• MANE Select transcript: NM_015201

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:15519
Approved symbol	BOP1
Name	BOP1 ribosomal biogenesis factor
Location	8q24.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0124
Ensembl gene	ENSG00000261236
Ensembl biotype	protein_coding
OMIM	610596
Entrez	23246

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000563210, ENST00000568812, ENST00000569160, ENST00000569403, ENST00000569669, ENST00000569712, ENST00000866219, ENST00000866220, ENST00000866221, ENST00000866222, ENST00000866223, ENST00000866224, ENST00000933802, ENST00000933803, ENST00000933804, ENST00000933805, ENST00000933806, ENST00000942715, ENST00000942716, ENST00000942717

RefSeq mRNA: 1 — MANE Select: NM_015201 NM_015201

CCDS: CCDS6418

Canonical transcript exons

ENST00000569669 — 16 exons

Exon	Start	End
ENSE00002579027	144264225	144264437
ENSE00002584016	144276224	144276304
ENSE00002586858	144263981	144264142
ENSE00002588242	144262396	144262503
ENSE00002590060	144263478	144263610
ENSE00002607743	144264515	144264616
ENSE00002607888	144263831	144263911
ENSE00002608514	144263692	144263761
ENSE00002611023	144262588	144262672
ENSE00002625494	144262045	144262317
ENSE00002625647	144262853	144263141
ENSE00002628433	144263221	144263401
ENSE00002629254	144264917	144265071
ENSE00003476491	144264714	144264831
ENSE00003626227	144289095	144289304
ENSE00003842068	144291272	144291438

Expression profiles

Bgee: expression breadth ubiquitous, 134 present calls, max score 98.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 41.0376 / max 393.9392, expressed in 1805 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
95625	41.0376	1805

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right lobe of thyroid gland	UBERON:0001119	98.20	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.86	gold quality
left lobe of thyroid gland	UBERON:0001120	97.75	gold quality
cerebellar hemisphere	UBERON:0002245	97.45	gold quality
cerebellar cortex	UBERON:0002129	97.41	gold quality
cerebellum	UBERON:0002037	97.39	gold quality
thyroid gland	UBERON:0002046	97.01	gold quality
pituitary gland	UBERON:0000007	96.42	gold quality
adenohypophysis	UBERON:0002196	95.63	gold quality
right uterine tube	UBERON:0001302	94.29	gold quality
gastrocnemius	UBERON:0001388	94.05	gold quality
right frontal lobe	UBERON:0002810	93.76	gold quality
lower esophagus mucosa	UBERON:0035834	93.47	gold quality
metanephros cortex	UBERON:0010533	93.34	gold quality
muscle of leg	UBERON:0001383	92.89	gold quality
mucosa of transverse colon	UBERON:0004991	92.82	gold quality
apex of heart	UBERON:0002098	92.72	gold quality
primary visual cortex	UBERON:0002436	92.03	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.86	gold quality
anterior cingulate cortex	UBERON:0009835	91.77	gold quality
body of pancreas	UBERON:0001150	91.56	gold quality
brain	UBERON:0000955	91.52	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.49	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.22	gold quality
frontal cortex	UBERON:0001870	91.09	gold quality
cortical plate	UBERON:0005343	91.08	gold quality
hypothalamus	UBERON:0001898	90.87	gold quality
cerebral cortex	UBERON:0000956	90.86	gold quality
esophagus mucosa	UBERON:0002469	90.86	gold quality
heart left ventricle	UBERON:0002084	90.79	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.19
E-MTAB-6911	no	249.24
E-GEOD-75367	no	100.27

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

1 targeting BOP1, 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-92A-2-5P	99.75	67.01	2164

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 99.1% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 12)

• Deregulation of the BOP1 pathway contributes to chromosomal instability in colorectal tumorigenesis. (PMID:16804918)
• Block of proliferation 1 (BOP1) plays an oncogenic role in hepatocellular carcinoma by promoting epithelial-to-mesenchymal transition. (PMID:21520196)
• The DDX27 can interact specifically with the Pes1 and Bop1 but fulfils critical function(s) for proper 3’ end formation of 47S rRNA independently of the PeBoW-complex. (PMID:25825154)
• Loss of which results in resistance to BRAF kinase inhibitors both in cell culture and in mice. (PMID:30782837)
• Block of proliferation 1 promotes cell migration and invasion in human colorectal cancer cells via the JNK pathway. (PMID:32167616)
• The Long Noncoding RNA CCAT2 Induces Chromosomal Instability Through BOP1-AURKB Signaling. (PMID:32805281)
• Expression, Localization, and Function of the Nucleolar Protein BOP1 in Prostate Cancer Progression. (PMID:33039351)
• BOP1 Knockdown Attenuates Neointimal Hyperplasia by Activating p53 and Inhibiting Nascent Protein Synthesis. (PMID:33510838)
• BOP1 confers chemoresistance of triple-negative breast cancer by promoting CBP-mediated beta-catenin acetylation. (PMID:33797754)
• BOP1 Silencing Suppresses Gastric Cancer Proliferation through p53 Modulation. (PMID:33877544)
• PDGF-C promotes cell proliferation partially via downregulating BOP1. (PMID:37615370)
• BOP1 Promotes Prostate Cancer through the DUSP6/MAPK Pathway. (PMID:37681336)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	bop1	ENSDARG00000063627
mus_musculus	Bop1	ENSMUSG00000022557
rattus_norvegicus	Bop1	ENSRNOG00000021773
drosophila_melanogaster	CG5033	FBGN0028744
caenorhabditis_elegans		WBGENE00012978

Protein

Protein identifiers

Ribosome biogenesis protein BOP1 — Q14137 (reviewed: Q14137)

Alternative names: Block of proliferation 1 protein

All UniProt accessions (2): Q14137, A0A075B729

UniProt curated annotations — full annotation on UniProt →

Function. Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.

Subunit / interactions. Component of the PeBoW complex, composed of BOP1, PES1 and WDR12. The complex is held together by BOP1, which interacts with PES1 via its N-terminal domain and with WDR12 via a high-affinity interaction between the seven-bladed beta-propeller domains of the 2 proteins. The NOP7 complex associates with the 66S pre-ribosome. The PeBoW complex associates with DDX27, BOP1 interacts directly with DDX27.

Subcellular location. Nucleus. Nucleolus. Nucleoplasm.

Induction. By MYC.

Similarity. Belongs to the WD repeat BOP1/ERB1 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q14137-1	1	yes
Q14137-2	2

RefSeq proteins (1): NP_056016* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR012953	BOP1_N_dom	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR028598	BOP1/Erb1	Family
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily

Pfam: PF00400, PF08145

UniProt features (19 total): repeat 7, modified residue 4, compositionally biased region 3, region of interest 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

10 structures.

PDB	Method	Resolution (Å)
8FKV	ELECTRON MICROSCOPY	2.47
8FKW	ELECTRON MICROSCOPY	2.5
8FKX	ELECTRON MICROSCOPY	2.59
8FKY	ELECTRON MICROSCOPY	2.67
8FKQ	ELECTRON MICROSCOPY	2.76
8FKT	ELECTRON MICROSCOPY	2.81
8FKU	ELECTRON MICROSCOPY	2.82
8FKP	ELECTRON MICROSCOPY	2.85
8FKS	ELECTRON MICROSCOPY	2.88
8FKR	ELECTRON MICROSCOPY	2.89

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14137-F1	80.32	0.49

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 (4): 106, 122, 126, 127

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-6791226	Major pathway of rRNA processing in the nucleolus and cytosol
R-HSA-72312	rRNA processing
R-HSA-8868773	rRNA processing in the nucleus and cytosol
R-HSA-8953854	Metabolism of RNA

MSigDB gene sets: 152 (showing top): ELVIDGE_HYPOXIA_DN, MODULE_52, GOBP_RIBOSOME_BIOGENESIS, SWEET_KRAS_ONCOGENIC_SIGNATURE, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GOBP_RIBOSOME_ASSEMBLY, MODULE_16, YY1_Q6, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, PUJANA_CHEK2_PCC_NETWORK, SCHUHMACHER_MYC_TARGETS_UP, ONKEN_UVEAL_MELANOMA_UP, GOBP_RIBOSOMAL_LARGE_SUBUNIT_ASSEMBLY, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOBP_MATURATION_OF_LSU_RRNA

GO Biological Process (11): ribosomal large subunit assembly (GO:0000027), cleavage in ITS2 between 5.8S rRNA and LSU-rRNA of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000448), maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000463), cell population proliferation (GO:0008283), ribosome biogenesis (GO:0042254), regulation of cell cycle (GO:0051726), regulation of signal transduction by p53 class mediator (GO:1901796), maturation of 5.8S rRNA (GO:0000460), maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000466), rRNA processing (GO:0006364), ribosomal large subunit biogenesis (GO:0042273)

GO Molecular Function (3): RNA binding (GO:0003723), ribonucleoprotein complex binding (GO:0043021), protein binding (GO:0005515)

GO Cellular Component (7): nucleoplasm (GO:0005654), chromosome (GO:0005694), nucleolus (GO:0005730), preribosome, large subunit precursor (GO:0030687), PeBoW complex (GO:0070545), ribonucleoprotein complex (GO:1990904), nucleus (GO:0005634)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
rRNA processing in the nucleus and cytosol	1
Metabolism of RNA	1
rRNA processing	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
ribonucleoprotein complex biogenesis	2
ribosome biogenesis	2
nuclear lumen	2
intracellular membraneless organelle	2
protein-RNA complex assembly	1
ribosome assembly	1
ribosomal large subunit biogenesis	1
maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
maturation of LSU-rRNA	1
cellular process	1
cell cycle	1
regulation of cellular process	1
signal transduction by p53 class mediator	1
regulation of intracellular signal transduction	1
rRNA processing	1
maturation of 5.8S rRNA	1
RNA processing	1
rRNA metabolic process	1
nucleic acid binding	1
protein-containing complex binding	1
binding	1
cellular anatomical structure	1
preribosome	1
nucleolus	1
90S preribosome	1
nuclear protein-containing complex	1
protein-containing complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

3184 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BOP1	WDR12	Q9GZL7	997
BOP1	PES1	O00541	992
BOP1	GRWD1	Q9BQ67	945
BOP1	RRS1	Q15050	705
BOP1	HSF1	Q00613	655
BOP1	NOL12	Q9UGY1	615
BOP1	GNL3	Q9BVP2	600
BOP1	RPL5	P46777	587
BOP1	EBNA1BP2	Q99848	578
BOP1	UTP18	Q9Y5J1	575
BOP1	DDX27	Q96GQ7	570
BOP1	NIFK	Q9BYG3	561
BOP1	DCAF13	Q9NV06	532
BOP1	GNL1	P36915	532
BOP1	RBM28	Q9NW13	526

IntAct

138 interactions, top by confidence:

A	B	Type	Score
WDR12	PES1	psi-mi:“MI:0914”(association)	0.850
BOP1	PES1	psi-mi:“MI:0914”(association)	0.810
PES1	BOP1	psi-mi:“MI:0914”(association)	0.810
BOP1	NPM1	psi-mi:“MI:0403”(colocalization)	0.710
PTK2	TGFB1I1	psi-mi:“MI:0914”(association)	0.680
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
BOP1	WDR12	psi-mi:“MI:0914”(association)	0.600
RPS6	IPO7	psi-mi:“MI:0914”(association)	0.530
PES1	AP3B1	psi-mi:“MI:0914”(association)	0.530
WDR55	PES1	psi-mi:“MI:0914”(association)	0.530
PRR11	NVL	psi-mi:“MI:0914”(association)	0.530
N	NOP56	psi-mi:“MI:0914”(association)	0.530
N	RBM47	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
CASQ2	PES1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
ZNRD2	MYO9A	psi-mi:“MI:0914”(association)	0.530
ABT1	ZNF316	psi-mi:“MI:0914”(association)	0.530
BOP1	PDIA4	psi-mi:“MI:0915”(physical association)	0.400
MAP3K4	BOP1	psi-mi:“MI:0915”(physical association)	0.400
	BOP1	psi-mi:“MI:0915”(physical association)	0.400
BOP1	NUDC	psi-mi:“MI:0915”(physical association)	0.400
BOP1	KLF10	psi-mi:“MI:0915”(physical association)	0.370
NP	KPNA4	psi-mi:“MI:0914”(association)	0.350

BioGRID (265): BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Affinity Capture-MS), BOP1 (Proximity Label-MS), WDR12 (Affinity Capture-Western), MDN1 (Affinity Capture-Western), PES1 (Affinity Capture-Western), BOP1 (Affinity Capture-Western), DDX27 (Affinity Capture-Western), BOP1 (Affinity Capture-Western), PES1 (Affinity Capture-Western)

ESM2 similar proteins: A0A1D5PJB7, A0A1L8HX76, A6QR40, O08764, O60294, O95382, P10938, P70218, P97452, Q12851, Q14137, Q15334, Q16586, Q28686, Q32P44, Q3TJ91, Q499N3, Q499U2, Q4KLI9, Q561R2, Q562C2, Q5RBH8, Q5RCX2, Q61161, Q6AY79, Q6F5E8, Q6P1M3, Q6V7V2, Q7SZE3, Q7TMC8, Q80Y17, Q8BYZ7, Q8C3I8, Q8C6B2, Q8CHW4, Q8K4K5, Q8MKF0, Q8N0W3, Q8VC03, Q91WI7

Diamond homologs: A0A1L8HX76, A4IHS2, A9UZS7, B3MHX6, B3NLK7, B4GIU9, B4HN85, B4J9K1, B4KQU8, B4MYI5, B4P528, O94411, P97412, P97452, Q14137, Q1DJF7, Q28XF0, Q3SZD4, Q499N3, Q4PHV3, Q4VBE8, Q54MZ3, Q54TD8, Q562C2, Q68EI0, Q7K0Y1, Q7PTC5, Q7T0W1, Q7ZXX9, Q86JF2, Q8C0J2, Q99698, Q9BV38, Q9M3B4, A0JMQ0, A1CQI9, A1D3F5, A2QPZ4, A3LXF0, A4H6F7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 139 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
Peptide chain elongation	15	23.5×	6e-15
Viral mRNA Translation	15	23.5×	6e-15
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	15	23.2×	6e-15
Selenocysteine synthesis	15	22.3×	7e-15
Eukaryotic Translation Termination	15	22.3×	7e-15
Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)	15	21.8×	7e-15
ZNF598 and the Ribosome-associated Quality Trigger (RQT) complex dissociate a ribosome stalled on a no-go mRNA	15	21.8×	7e-15
Formation of a pool of free 40S subunits	15	20.7×	1e-14

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	16	24.5×	2e-15
ribosomal large subunit biogenesis	6	22.0×	4e-05
ribosomal small subunit biogenesis	9	16.9×	6e-07
rRNA processing	13	15.2×	8e-10
translation	17	14.4×	1e-12
negative regulation of translation	7	11.3×	4e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	28
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
60411	GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1	Pathogenic

SpliceAI

3910 predictions. Top by Δscore:

Variant	Effect	Δscore
8:144262388:GCACT:G	donor_loss	1.0000
8:144262389:CACT:C	donor_loss	1.0000
8:144262390:ACTC:A	donor_loss	1.0000
8:144262391:CT:C	donor_loss	1.0000
8:144262392:T:TC	donor_loss	1.0000
8:144262393:CACT:C	donor_loss	1.0000
8:144262394:A:AC	donor_gain	1.0000
8:144262394:A:T	donor_loss	1.0000
8:144262395:C:CA	donor_gain	1.0000
8:144262395:C:T	donor_loss	1.0000
8:144262396:TTGTA:T	donor_gain	1.0000
8:144262397:TGTAC:T	donor_gain	1.0000
8:144262499:GGTGT:G	acceptor_gain	1.0000
8:144262500:GTGT:G	acceptor_gain	1.0000
8:144262501:TGT:T	acceptor_gain	1.0000
8:144262501:TGTC:T	acceptor_loss	1.0000
8:144262502:GT:G	acceptor_gain	1.0000
8:144262503:TC:T	acceptor_loss	1.0000
8:144262504:C:CC	acceptor_gain	1.0000
8:144262505:T:C	acceptor_loss	1.0000
8:144262581:T:A	donor_gain	1.0000
8:144262582:CCTCA:C	donor_loss	1.0000
8:144262583:CTCA:C	donor_loss	1.0000
8:144262584:TCA:T	donor_loss	1.0000
8:144262586:A:C	donor_loss	1.0000
8:144262587:C:CG	donor_loss	1.0000
8:144262587:CCT:C	donor_gain	1.0000
8:144262591:AGCAT:A	donor_gain	1.0000
8:144262595:T:TA	donor_gain	1.0000
8:144262848:CTCAC:C	donor_loss	1.0000

AlphaMissense

4859 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:144262285:A:T	V707D	0.999
8:144262417:A:T	V689D	0.999
8:144262631:A:G	W646R	0.999
8:144262631:A:T	W646R	0.999
8:144262650:G:C	S639R	0.998
8:144262650:G:T	S639R	0.998
8:144262652:T:G	S639R	0.998
8:144262654:C:T	G638E	0.998
8:144263847:G:T	P402H	0.998
8:144263849:G:C	F401L	0.998
8:144263849:G:T	F401L	0.998
8:144263851:A:G	F401L	0.998
8:144264018:A:G	L368P	0.998
8:144262655:C:A	G638W	0.997
8:144262986:G:C	F587L	0.997
8:144262986:G:T	F587L	0.997
8:144262988:A:G	F587L	0.997
8:144263034:G:C	S571R	0.997
8:144263034:G:T	S571R	0.997
8:144263036:T:G	S571R	0.997
8:144263889:A:G	L388P	0.997
8:144264012:A:G	L370P	0.997
8:144264351:C:A	W284C	0.997
8:144264351:C:G	W284C	0.997
8:144264353:A:G	W284R	0.997
8:144264353:A:T	W284R	0.997
8:144264411:C:A	K264N	0.997
8:144264411:C:G	K264N	0.997
8:144264415:A:T	I263N	0.997
8:144264419:C:G	A262P	0.997

dbSNP variants (sampled 300 via entrez): RS1000043853 (8:144263436 A>C,G), RS1000071286 (8:144280623 C>A), RS1000071647 (8:144271387 G>A,C), RS1000166670 (8:144267636 G>A,T), RS1000211146 (8:144264802 C>T), RS1000294916 (8:144273087 G>A,C), RS1000321051 (8:144264977 G>A), RS1000488361 (8:144269460 G>C), RS1000537820 (8:144276852 C>G), RS1000670197 (8:144288881 G>A,C), RS1000839384 (8:144269345 G>A,T), RS1000907446 (8:144271936 G>A,T), RS1000997318 (8:144284448 C>T), RS1001022675 (8:144279408 C>T), RS1001074540 (8:144279632 C>G,T)

Disease associations

OMIM: gene MIM:610596 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST004858_12	Dupuytren’s disease	5.000000e-14
GCST007429_49	Lung function (FVC)	6.000000e-21
GCST007432_85	FEV1	2.000000e-18
GCST009379_121	Type 2 diabetes	9.000000e-14
GCST009379_122	Type 2 diabetes	5.000000e-09

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004229	Dupuytren Contracture
EFO:0004312	vital capacity
EFO:0004314	forced expiratory volume

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

58 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, decreases expression, affects expression, affects cotreatment	4
sodium arsenite	decreases expression, increases expression	3
cobaltous chloride	decreases reaction, decreases expression	3
Valproic Acid	increases methylation, decreases expression, increases expression	3
Nickel	increases expression	2
Smoke	increases abundance, increases expression, decreases expression	2
FR900359	decreases phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
deoxynivalenol	increases expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
afimoxifene	decreases reaction, increases expression	1
zinc chloride	decreases expression, decreases reaction	1
tetrabromobisphenol A	decreases expression	1
coumarin	affects phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
cylindrospermopsin	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
ICG 001	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
pentabrominated diphenyl ether 100	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
LDN 193189	affects cotreatment, decreases expression	1
MT19c compound	decreases expression	1
theaflavin-3,3’-digallate	affects expression	1
Temozolomide	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1

Clinical trials (associated diseases)

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