OIP5

Summary

OIP5 (Opa interacting protein 5, HGNC:20300) is a protein-coding gene on chromosome 15q15.1, encoding Protein Mis18-beta (O43482). Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis. It is a selective cancer dependency (DepMap: 89.2% of cell lines).

The protein encoded by this gene localizes to centromeres, where it is essential for recruitment of CENP-A through the mediator Holliday junction recognition protein. Expression of this gene is upregulated in several cancers, making it a putative therapeutic target. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 11339 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 27 total
• Cancer dependency (DepMap): dependent in 89.2% of screened cell lines
• MANE Select transcript: NM_007280

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20300
Approved symbol	OIP5
Name	Opa interacting protein 5
Location	15q15.1
Locus type	gene with protein product
Status	Approved
Aliases	MIS18B, hMIS18beta, CT86
Ensembl gene	ENSG00000104147
Ensembl biotype	protein_coding
OMIM	606020
Entrez	11339

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000220514, ENST00000560640, ENST00000911289

RefSeq mRNA: 2 — MANE Select: NM_007280 NM_001317860, NM_007280

CCDS: CCDS10074

Canonical transcript exons

ENST00000220514 — 5 exons

Exon	Start	End
ENSE00000884003	41309273	41309849
ENSE00000930989	41331915	41331981
ENSE00000930990	41332240	41332591
ENSE00000942405	41319658	41319780
ENSE00000942406	41313273	41313354

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 97.20.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2969 / max 104.1038, expressed in 1214 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
149523	7.2969	1214

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.20	gold quality
secondary oocyte	CL:0000655	95.21	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	94.76	gold quality
ventricular zone	UBERON:0003053	90.68	gold quality
adult organism	UBERON:0007023	85.62	gold quality
right testis	UBERON:0004534	85.48	gold quality
left testis	UBERON:0004533	85.00	gold quality
testis	UBERON:0000473	84.31	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.66	gold quality
ganglionic eminence	UBERON:0004023	83.12	gold quality
sperm	CL:0000019	82.26	gold quality
embryo	UBERON:0000922	82.12	gold quality
mucosa of transverse colon	UBERON:0004991	81.22	gold quality
male germ cell	CL:0000015	80.66	gold quality
gastrocnemius	UBERON:0001388	78.75	gold quality
muscle of leg	UBERON:0001383	78.36	gold quality
bone marrow	UBERON:0002371	77.36	gold quality
muscle organ	UBERON:0001630	74.99	gold quality
hindlimb stylopod muscle	UBERON:0004252	74.87	gold quality
endometrium epithelium	UBERON:0004811	74.68	silver quality
stromal cell of endometrium	CL:0002255	73.96	gold quality
trabecular bone tissue	UBERON:0002483	73.03	gold quality
rectum	UBERON:0001052	72.57	gold quality
esophagus mucosa	UBERON:0002469	71.11	gold quality
adrenal tissue	UBERON:0018303	69.49	gold quality
vermiform appendix	UBERON:0001154	69.10	gold quality
right adrenal gland cortex	UBERON:0035827	68.80	gold quality
lower esophagus mucosa	UBERON:0035834	68.77	gold quality
esophagus squamous epithelium	UBERON:0006920	68.62	silver quality
tibialis anterior	UBERON:0001385	68.45	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.87

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F4

miRNA regulators (miRDB)

31 targeting OIP5, 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-656-3P	100.00	72.15	2788
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-548AG	99.77	69.25	1492
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-548M	99.70	68.87	1749
HSA-MIR-548AI	99.69	69.24	1494
HSA-MIR-548BA	99.69	69.14	1514
HSA-MIR-570-5P	99.69	69.24	1494
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-4756-3P	99.62	66.30	1319
HSA-MIR-891B	99.59	69.81	1083
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-3171	99.49	69.06	776
HSA-MIR-5009-3P	99.45	69.43	1341
HSA-MIR-4786-3P	99.36	68.35	1390
HSA-MIR-148A-5P	99.30	68.27	1141
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-6895-3P	98.79	65.69	996
HSA-MIR-4742-3P	98.73	69.82	1803
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-7843-3P	98.31	67.94	803
HSA-MIR-6826-3P	98.19	66.32	1153
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-4433A-3P	97.75	62.82	1435

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 89.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 38)

• Three human proteins essential for centromere/kinetochore structure and function, hMis18alpha, hMis18beta, and M18BP1, the complex of which is accumulated specifically at the telophase-G1 centromere, are identified.[Mis18alpha, Mis18beta, M18BP1] (PMID:17199038)
• These results indicate that knockdown of OIP5 may induce apoptosis in cancer cells. (PMID:20510019)
• OIP5 expression was significantly associated with poor prognosis of lung and esophageal cancer patients (PMID:22129094)
• expression of AURKC, OIP5, PIWIL2 and TAF7L differed between patients with Acute myeloid leukemia, myelodysplastic syndrome and healthy controls in a gender-dependent manner (PMID:23292864)
• this study showed betaTrCP-mediated regulation of Mis18beta stability is a mechanism to restrict centromere function of Mis18 complex from late mitosis to early G1 phase. (PMID:24269809)
• Mis18beta binds with and specifies the centromere localization of HJURP. (PMID:24519934)
• Over-expression of OIP5 was observed in breast tumors. (PMID:26107214)
• Stable binding of Mis18alpha-Mis18beta heterotetramer to centromeres in telophase licenses them for CENP-A deposition. (PMID:26942680)
• the Mis18 complex contains dual CENP-C recognition motifs that are combinatorially required to generate robust centromeric localization that leads to CENP-A deposition (PMID:27239045)
• OIP5 over-expression inhibited hsa-miR-139-5p expression, antagonized its functions and led to the de-repression of its endogenous target NOTCH1, which was a core oncogene in promoting breast cancer progression. (PMID:27916718)
• The authors demonstrate that CDK1 controls Mis18 complex recruitment to centromeres by regulating oligomerization of M18BP1 through the Mis18alpha:Mis18beta scaffold. (PMID:28059702)
• These findings suggest that OIP5 may be involved in hepatocellular carcinoma (HCC) growth and metastasis and that miR-15b-5p inhibits OIP5-mediated oncogenic signaling in HCC. (PMID:28184024)
• High OIP5 expression is associated with bladder cancer. (PMID:28752236)
• interaction network might function as an oncogene in bladder cancer progression (PMID:28843748)
• Mitofusin 2 knockdown altered Neisseria gonorrhoeae opacity-associated-interacting protein 5 (OIP5) expression. (PMID:29034772)
• LncRNA OIP5-AS1 modulated the expression of Bcl-2 by targeting miR-448 in lung adenocarcinoma cells. (PMID:29247949)
• E3 ubiquitin ligase RNF123 targets LMNB1, Rb protein and LAP2alpha for proteasomal degradation. (PMID:29676528)
• LncRNA OIP5-AS1 suppressed cell viability, promoted radio-induced apoptosis, and enhanced the radiosensitivity of CRC cells by regulating DYRK1A expression through miR-369-3p. (PMID:29773344)
• FN1 expression was regulated by the oncogenic long noncoding RNA (lncRNA) OIP5-AS1 through sponging miR-200b-3p. (PMID:30204936)
• OIP5 knockdown rescues glioma cells following lomustine treatment. (PMID:30284228)
• This study showed the role of Lactobacilli in down-regulation of TSGA10, AURKC, OIP5 and AKAP4 genes. Such expression change might be involved in the anticancer effects of these Lactobacilli. The underlying mechanisms of these observations are not clear but epigenetic modulatory mechanisms may participate in this process. (PMID:30545223)
• The upregulation of OIP5 mRNA was observed in nasopharyngeal carcinoma (NPC) tissues from two Gene Expression Omnibus datasets. Expression of OIP5 mRNA was significantly upregulated in several NPC cell lines compared to normal nasopharyngeal cells. Knockdown of OIP5 remarkably decreased the expression of p-JAK2 and p-STAT3 protein in NPC cells. Data indicated that OIP5 promoted NPC progression by modulating JAK2/STAT3. (PMID:30720169)
• the overall results demonstrated the involvement of OIP5 in the progression of liver cancer and its mechanism of action. (PMID:30816485)
• Long non-coding RNA OIP5-AS1 promotes the growth of gastric cancer through the miR-367-3p/HMGA2 axis. (PMID:31959478)
• OIP5-AS1 promotes the progression of gastric cancer cells via the miR-153-3p/ZBTB2 axis. (PMID:32196594)
• Inhibitory role of long non-coding RNA OIP5-AS1 in rheumatoid arthritis progression through the microRNA-448-paraoxonase 1-toll-like receptor 3-nuclear factor kappaB axis. (PMID:32770578)
• LncRNA OIP5-AS1 facilitates ox-LDL-induced endothelial cell injury through the miR-98-5p/HMGB1 axis. (PMID:32990894)
• Opa-Interacting Protein 5 Expression in Human Glioma Tissues Is Essential to the Biological Function of U251 Human Malignant Glioma Cells. (PMID:33153318)
• OIP5-AS1 specifies p53-driven POX transcription regulated by TRPC6 in glioma. (PMID:33508123)
• Lnc-OIP5-AS1 exacerbates aorta wall injury during the development of aortic dissection through upregulating TUB via sponging miR-143-3p. (PMID:33577845)
• LncRNA OIP5-AS1 affects the biological behaviors of chondrocytes of patients with osteoarthritis by regulating micro-30a-5p. (PMID:33629291)
• Long Non-Coding RNA OIP5-AS1 Inhibits the Proliferation and Migration of Esophageal Squamous Carcinoma Cells by Targeting FOXD1/miR-30a-5p Axis and the Effect of Micro- and Nano-Particles on Targeting Transfection System. (PMID:34446141)
• Characterization of Opa interacting protein 5 as a new biomarker and therapeutic target for oral cancer. (PMID:35103287)
• Long non-coding RNA Opa interacting protein 5-antisense RNA 1 binds to micorRNA-34a to upregulate oncogenic PD-L1 in non-small cell lung cancer. (PMID:35411833)
• Opa interacting protein 5 promotes proliferation and migration of trophoblast cells via activating STAT3 pathway. (PMID:35429809)
• The role of OIP5 in the carcinogenesis and progression of ovarian cancer. (PMID:37660035)
• [H3K27 acetylation promotes lncRNA OIP5-AS1 transcription and induces apoptosis of nasal epithelial cells in allergic rhinitis through up-regulation of TLR4]. (PMID:38790098)
• beta-TrCP-Mediated Proteolysis of Mis18beta Prevents Mislocalization of CENP-A and Chromosomal Instability. (PMID:39135477)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	oip5	ENSDARG00000093597
mus_musculus	Oip5	ENSMUSG00000072980
rattus_norvegicus	Oip5	ENSRNOG00000057458

Paralogs (1): MIS18A (ENSG00000159055)

Protein

Protein identifiers

Protein Mis18-beta — O43482 (reviewed: O43482)

Alternative names: Cancer/testis antigen 86, Opa-interacting protein 5

All UniProt accessions (2): O43482, H0YKL4

UniProt curated annotations — full annotation on UniProt →

Function. Required for recruitment of CENPA to centromeres and normal chromosome segregation during mitosis.

Subunit / interactions. Homodimer, and heterodimer with MIS18A. Identified in a complex containing MIS18A, OIP5/MIS18B, MIS18BP1, RBBP7 and RBBP4. Binds outer membrane protein OpaP from Neisseria gonorrhoeae (in vitro).

Subcellular location. Nucleus. Chromosome. Centromere.

Similarity. Belongs to the mis18 family.

RefSeq proteins (2): NP_001304789, NP_009211* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004910	Yippee/Mis18/Cereblon	Domain
IPR034752	Mis18	Domain

Pfam: PF03226

UniProt features (13 total): binding site 4, modified residue 4, mutagenesis site 2, chain 1, domain 1, helix 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
7SFY	X-RAY DIFFRACTION	2.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O43482-F1	75.60	0.46

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): 80; 83; 137; 140

Post-translational modifications (4): 14, 48, 221, 225

Mutagenesis-validated functional residues (2):

Position	Phenotype
77	abolishes interaction with mis18a; when associated with d-172.
172	abolishes interaction with mis18a; when associated with e-77.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-606279	Deposition of new CENPA-containing nucleosomes at the centromere
R-HSA-1640170	Cell Cycle
R-HSA-73886	Chromosome Maintenance
R-HSA-774815	Nucleosome assembly

MSigDB gene sets: 205 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_MCMV_INFECTION_DN, GOBP_CHROMOSOME_ORGANIZATION, HORIUCHI_WTAP_TARGETS_DN, KANG_DOXORUBICIN_RESISTANCE_UP, YAGI_AML_WITH_INV_16_TRANSLOCATION, CROONQUIST_NRAS_SIGNALING_DN, PUJANA_CHEK2_PCC_NETWORK, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, CADWELL_ATG16L1_TARGETS_DN, FISCHER_G2_M_CELL_CYCLE, GOBP_ORGANELLE_ASSEMBLY, GARY_CD5_TARGETS_DN, FUJII_YBX1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, FISCHER_DREAM_TARGETS

GO Biological Process (5): chromosome segregation (GO:0007059), cell communication (GO:0007154), CENP-A containing chromatin assembly (GO:0034080), cell division (GO:0051301), obsolete pericentric heterochromatin organization (GO:0140462)

GO Molecular Function (3): identical protein binding (GO:0042802), metal ion binding (GO:0046872), protein binding (GO:0005515)

GO Cellular Component (9): chromosome, centromeric region (GO:0000775), chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromocenter (GO:0010369), Cajal body (GO:0015030), nuclear speck (GO:0016607), CENP-A recruiting complex (GO:0098654), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Nucleosome assembly	1
Cell Cycle	1
Chromosome Maintenance	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular process	2
cellular anatomical structure	2
intracellular membraneless organelle	2
nuclear ribonucleoprotein granule	2
cell cycle process	1
chromatin organization	1
kinetochore assembly	1
protein localization to CENP-A containing chromatin	1
protein binding	1
cation binding	1
binding	1
chromosomal region	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

1270 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OIP5	MIS18BP1	Q6P0N0	996
OIP5	MIS18A	Q9NYP9	996
OIP5	TRIP6	Q15654	853
OIP5	CENPC	Q03188	817
OIP5	EXOSC8	Q96B26	811
OIP5	PRAME	P78395	799
OIP5	PKM	P14618	768
OIP5	CENPA	P49450	734
OIP5	HJURP	Q8NCD3	663
OIP5	RACGAP1	Q9H0H5	552
OIP5	BUB1	O43683	530
OIP5	HMMR	O75330	530
OIP5	NASP	P49321	513
OIP5	XAGE3	Q8WTP9	506
OIP5	CCNB1	P14635	502

IntAct

581 interactions, top by confidence:

A	B	Type	Score
OIP5	MIS18A	psi-mi:“MI:0915”(physical association)	0.950
MIS18A	OIP5	psi-mi:“MI:0915”(physical association)	0.950
TPM3	OIP5	psi-mi:“MI:0915”(physical association)	0.850
EZH2	EPOP	psi-mi:“MI:0914”(association)	0.730
OIP5	NUP62	psi-mi:“MI:0915”(physical association)	0.720
C1orf94	OIP5	psi-mi:“MI:0915”(physical association)	0.720
TFIP11	OIP5	psi-mi:“MI:0915”(physical association)	0.720
OIP5	C1orf94	psi-mi:“MI:0915”(physical association)	0.720
NUP62	OIP5	psi-mi:“MI:0915”(physical association)	0.720
KRT15	OIP5	psi-mi:“MI:0915”(physical association)	0.670
OIP5	TRIP6	psi-mi:“MI:0915”(physical association)	0.670
CEP170P1	OIP5	psi-mi:“MI:0915”(physical association)	0.670
OIP5	CEP170P1	psi-mi:“MI:0915”(physical association)	0.670
OIP5	KRT15	psi-mi:“MI:0915”(physical association)	0.670

BioGRID (279): OIP5 (Two-hybrid), OIP5 (Two-hybrid), OIP5 (Two-hybrid), OIP5 (Two-hybrid), NUP62 (Two-hybrid), TFIP11 (Two-hybrid), MIS18A (Two-hybrid), EIF4ENIF1 (Two-hybrid), GCC1 (Two-hybrid), C1orf94 (Two-hybrid), CEP170P1 (Two-hybrid), CEP170 (Affinity Capture-MS), UBE2T (Affinity Capture-MS), RNF40 (Affinity Capture-MS), QKI (Affinity Capture-MS)

ESM2 similar proteins: A0A8M9QN10, A2AQ14, A2ARM1, A2CI97, A2CI98, A2CJ06, A5D7N9, B1MT51, B2RZC4, B5SNH4, O43147, O43482, O70173, P0C6P5, P59729, P70371, P97433, Q3UHA3, Q5BIW4, Q5BK24, Q5EB20, Q5I0F1, Q5PQS0, Q5SSH7, Q5U3H9, Q68UT5, Q6GR31, Q6IRN0, Q6NV72, Q6P4K6, Q6ZUJ8, Q7TSI1, Q7Z2Z1, Q7Z4M0, Q80VA5, Q8BPZ8, Q8BQ33, Q8IUY3, Q8ND61, Q8WYP3

Diamond homologs: A2AQ14, O43482

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
OIP5	“form complex”	“CENP-A recruiting complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 123 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 the cornified envelope	9	10.3×	4e-05
Keratinization	12	8.7×	4e-06

GO biological processes:

GO term	Partners	Fold	FDR
intermediate filament organization	9	19.5×	5e-07
morphogenesis of an epithelium	6	18.6×	2e-04
endocytic recycling	7	16.9×	6e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	22
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

810 predictions. Top by Δscore:

Variant	Effect	Δscore
15:41313272:CCT:C	donor_gain	1.0000
15:41331910:CGTA:C	donor_loss	1.0000
15:41331911:GTAC:G	donor_loss	1.0000
15:41331912:TACC:T	donor_loss	1.0000
15:41331914:CCTG:C	donor_gain	1.0000
15:41331979:CTC:C	acceptor_gain	1.0000
15:41332238:A:AC	donor_gain	1.0000
15:41332239:C:CC	donor_gain	1.0000
15:41309847:CAG:C	acceptor_gain	0.9900
15:41309850:C:CC	acceptor_gain	0.9900
15:41313268:TTTAC:T	donor_loss	0.9900
15:41313269:TTA:T	donor_loss	0.9900
15:41313272:CCTC:C	donor_loss	0.9900
15:41313352:TAG:T	acceptor_gain	0.9900
15:41319781:C:CC	acceptor_gain	0.9900
15:41331913:A:AC	donor_gain	0.9900
15:41331913:ACCTG:A	donor_gain	0.9900
15:41331914:C:CC	donor_gain	0.9900
15:41331914:CCTGC:C	donor_gain	0.9900
15:41331980:TCCTA:T	acceptor_loss	0.9900
15:41331981:CCT:C	acceptor_loss	0.9900
15:41331982:C:A	acceptor_loss	0.9900
15:41331982:C:CC	acceptor_gain	0.9900
15:41331983:T:A	acceptor_loss	0.9900
15:41332126:T:TA	donor_gain	0.9900
15:41332149:T:TA	donor_gain	0.9900
15:41332216:T:A	donor_gain	0.9900
15:41313273:C:A	donor_loss	0.9800
15:41313350:GATAG:G	acceptor_gain	0.9800
15:41313354:GC:G	acceptor_loss	0.9800

AlphaMissense

1469 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:41332329:A:G	F78S	0.979
15:41319684:G:C	F162L	0.977
15:41319684:G:T	F162L	0.977
15:41319686:A:G	F162L	0.977
15:41319737:C:G	G145R	0.975
15:41319732:G:C	F146L	0.972
15:41319732:G:T	F146L	0.972
15:41319734:A:G	F146L	0.972
15:41319736:C:T	G145D	0.972
15:41332328:G:C	F78L	0.970
15:41332328:G:T	F78L	0.970
15:41332330:A:G	F78L	0.970
15:41319776:A:C	Y132D	0.968
15:41313346:A:G	L174S	0.966
15:41319780:A:C	S130R	0.956
15:41319780:A:T	S130R	0.956
15:41331916:T:G	S130R	0.956
15:41319761:A:G	C137R	0.953
15:41332300:C:G	A88P	0.952
15:41332329:A:C	F78C	0.951
15:41319733:A:G	F146S	0.950
15:41319683:A:G	C163R	0.949
15:41319727:A:T	L148Q	0.948
15:41319760:C:T	C137Y	0.947
15:41319766:A:G	L135S	0.945
15:41331975:G:A	T110I	0.945
15:41332297:C:G	D89H	0.945
15:41332299:G:T	A88D	0.945
15:41332447:A:G	W39R	0.943
15:41332447:A:T	W39R	0.943

dbSNP variants (sampled 300 via entrez): RS1000030820 (15:41332748 T>A,C), RS1000065734 (15:41330863 A>G), RS1000135518 (15:41333171 G>C,T), RS1000258415 (15:41310291 A>G), RS1000308565 (15:41323488 T>G), RS1000333354 (15:41331122 C>T), RS1000338941 (15:41316940 A>C), RS1000371366 (15:41317225 T>G), RS1000453604 (15:41310079 GC>G), RS1000512822 (15:41316597 T>C), RS1000631579 (15:41333936 A>C), RS1000635847 (15:41321340 G>A,C), RS1000680180 (15:41323186 C>T), RS1000688110 (15:41321526 T>C), RS1000767554 (15:41328919 A>G)

Disease associations

OMIM: gene MIM:606020 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004133_26	Ulcerative colitis	3.000000e-07
GCST007563_20	Allergic disease (asthma, hay fever or eczema)	4.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	4
Tetrachlorodibenzodioxin	decreases expression	3
bisphenol A	decreases expression, affects cotreatment	2
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
cobaltous chloride	decreases expression	2
Benzo(a)pyrene	decreases expression	2
Silicon Dioxide	decreases expression	2
Valproic Acid	decreases expression, increases expression	2
Aflatoxin B1	affects expression, decreases methylation	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
propionaldehyde	decreases expression	1
deoxynivalenol	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
perfluorooctanoic acid	decreases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
aflatoxin B2	decreases methylation	1
coumarin	decreases phosphorylation	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
azoxystrobin	increases expression	1
deguelin	increases expression	1
K 7174	decreases expression	1
erucylphospho-N,N,N-trimethylpropylammonium	decreases expression	1
pyrimidifen	increases expression	1
abrine	decreases expression	1

Clinical trials (associated diseases)

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