EPCIP

Summary

EPCIP (exosomal polycystin 1 interacting protein, HGNC:1305) is a protein-coding gene on chromosome 21q22.11, encoding Exosomal polycystin-1-interacting protein (Q9NYP8). Likely to be involved with PKD1 in the detection, sequestration and exocytosis of senescent mitochondria.

Enables identical protein binding activity. Involved in mitocytosis. Located in extracellular exosome and migrasome.

Source: NCBI Gene 56245 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 13 total — 1 pathogenic
• GTEx eGene: eQTL in 13 tissues, sQTL in 3 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.65 (unconstrained)
• MANE Select transcript: NM_001162495

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1305
Approved symbol	EPCIP
Name	exosomal polycystin 1 interacting protein
Location	21q22.11
Locus type	gene with protein product
Status	Approved
Aliases	B37, PRED81, CU062
Ensembl gene	ENSG00000205929
Ensembl biotype	protein_coding
Entrez	56245

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 7 protein_coding

MANE Select: ENST00000479548

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 3, TSL 3: 1

ENST00000479548, ENST00000382373, ENST00000487113, ENST00000490358, ENST00000861348, ENST00000946954, ENST00001131806

RefSeq mRNA: 3 — MANE Select: NM_001162495 NM_001162495, NM_001162496, NM_019596

CCDS: CCDS42919

Canonical transcript exons

ENST00000479548 — 4 exons

Exon	Start	End
ENSE00001491871	32790673	32794485
ENSE00001817822	32807642	32807716
ENSE00001915744	32813592	32813703
ENSE00003634340	32810574	32810654

Expression profiles

Bgee: expression breadth ubiquitous, 110 present calls, max score 73.08.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5775 / max 135.3765, expressed in 120 samples.

Highest expression (Bgee): ovary, male germ line stem cell (sensu Vertebrata) in testis, adult mammalian kidney, adenohypophysis, pituitary gland.

Genetic regulation across tissues (GTEx eQTL / sQTL)

EPCIP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 13 tissues and its splicing (sQTL) in 3 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

16 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Pituitary	sqtl	7.4e-28	+1.13	21:32796871:A:G
Ovary	sqtl	8.4e-13	+1.01	21:32784619:G:A
Esophagus Muscularis	eqtl	8.4e-11	+0.39	21:32807134:G:A
Thyroid	eqtl	1.3e-04	+0.32	21:32776261:G:GTATAA
Esophagus Mucosa	eqtl	3.4e-04	+0.30	21:32808906:C:A
Colon Sigmoid	eqtl	4.7e-03	+0.33	21:32772234:A:G
Kidney Cortex	sqtl	6.6e-03	+0.93	21:32808906:C:A
Nerve Tibial	eqtl	1.2e-02	+0.20	21:32772234:A:G
Esophagus Gastroesophageal Junction	eqtl	1.3e-02	-0.24	21:32622424:A:G
Breast Mammary Tissue	eqtl	1.4e-02	+0.23	21:32784098:T:G
Brain Putamen basal ganglia	eqtl	1.4e-02	-0.48	21:32491338:G:A
Skin Sun Exposed Lower leg	eqtl	1.5e-02	+0.21	21:32782926:C:A
Skin Not Sun Exposed Suprapubic	eqtl	1.8e-02	+0.23	21:32782926:C:A
Testis	eqtl	2.3e-02	+0.79	21:32348582:T:C
Brain Frontal Cortex BA9	eqtl	3.8e-02	+0.76	21:32152539:T:C
Small Intestine Terminal Ileum	eqtl	4.4e-02	-0.23	21:33725717:G:C

FANTOM5 promoters

3 alternative TSS:

Promoter ID	TPM avg	Samples expressed
190215	0.2633	72
190216	0.2623	71
190214	0.0519	28

Top tissues by expression

showing 100 of 119 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
ovary	UBERON:0000992	73.08	gold quality
left ovary	UBERON:0002119	72.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	71.68	gold quality
right ovary	UBERON:0002118	70.02	gold quality
adult mammalian kidney	UBERON:0000082	69.91	gold quality
adenohypophysis	UBERON:0002196	69.84	gold quality
pituitary gland	UBERON:0000007	69.76	gold quality
corpus callosum	UBERON:0002336	68.58	gold quality
metanephros cortex	UBERON:0010533	68.27	gold quality
kidney	UBERON:0002113	67.80	gold quality
body of pancreas	UBERON:0001150	64.38	gold quality
pancreas	UBERON:0001264	63.89	gold quality
hypothalamus	UBERON:0001898	62.23	gold quality
islet of Langerhans	UBERON:0000006	62.06	gold quality
left uterine tube	UBERON:0001303	61.68	gold quality
cortex of kidney	UBERON:0001225	61.19	gold quality
substantia nigra	UBERON:0002038	57.98	gold quality
bone marrow cell	CL:0002092	56.34	gold quality
fallopian tube	UBERON:0003889	56.15	gold quality
calcaneal tendon	UBERON:0003701	55.59	gold quality
tonsil	UBERON:0002372	55.48	gold quality
omental fat pad	UBERON:0010414	55.47	gold quality
adrenal tissue	UBERON:0018303	55.38	gold quality
gall bladder	UBERON:0002110	54.91	gold quality
ganglionic eminence	UBERON:0004023	54.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	54.45	gold quality
colonic epithelium	UBERON:0000397	53.81	gold quality
bone marrow	UBERON:0002371	53.78	silver quality
vermiform appendix	UBERON:0001154	53.42	gold quality
Ammon’s horn	UBERON:0001954	53.26	gold quality
ventricular zone	UBERON:0003053	53.18	gold quality
skeletal muscle tissue	UBERON:0001134	52.48	gold quality
lower esophagus	UBERON:0013473	52.29	gold quality
lower esophagus muscularis layer	UBERON:0035833	52.28	gold quality
muscle tissue	UBERON:0002385	51.90	gold quality
lymph node	UBERON:0000029	50.98	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	49.96	gold quality
right uterine tube	UBERON:0001302	49.75	gold quality
smooth muscle tissue	UBERON:0001135	49.48	gold quality
right coronary artery	UBERON:0001625	49.44	gold quality
prostate gland	UBERON:0002367	49.25	gold quality
temporal lobe	UBERON:0001871	48.99	gold quality
cortical plate	UBERON:0005343	48.82	gold quality
brain	UBERON:0000955	48.74	gold quality
amygdala	UBERON:0001876	48.74	gold quality
fundus of stomach	UBERON:0001160	48.73	gold quality
liver	UBERON:0002107	47.77	silver quality
caudate nucleus	UBERON:0001873	47.08	gold quality
Brodmann (1909) area 9	UBERON:0013540	46.83	gold quality
prefrontal cortex	UBERON:0000451	46.78	gold quality
small intestine Peyer’s patch	UBERON:0003454	46.77	gold quality
small intestine	UBERON:0002108	46.55	gold quality
cerebral cortex	UBERON:0000956	46.35	gold quality
urinary bladder	UBERON:0001255	46.23	gold quality
anterior cingulate cortex	UBERON:0009835	45.88	gold quality
esophagus	UBERON:0001043	45.86	gold quality
superior frontal gyrus	UBERON:0002661	45.50	silver quality
stomach	UBERON:0000945	45.32	gold quality
uterine cervix	UBERON:0000002	45.05	silver quality
adipose tissue	UBERON:0001013	44.87	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	44.82	gold quality
frontal cortex	UBERON:0001870	44.79	gold quality
multicellular organism	UBERON:0000468	44.31	gold quality
adrenal gland	UBERON:0002369	44.16	gold quality
intestine	UBERON:0000160	43.95	gold quality
body of stomach	UBERON:0001161	43.94	gold quality
heart left ventricle	UBERON:0002084	43.62	gold quality
muscle layer of sigmoid colon	UBERON:0035805	43.62	gold quality
heart	UBERON:0000948	43.51	gold quality
putamen	UBERON:0001874	43.50	gold quality
lower esophagus mucosa	UBERON:0035834	43.47	silver quality
blood	UBERON:0000178	42.94	gold quality
colon	UBERON:0001155	42.89	gold quality
right atrium auricular region	UBERON:0006631	42.86	gold quality
placenta	UBERON:0001987	42.69	gold quality
nucleus accumbens	UBERON:0001882	42.50	gold quality
left adrenal gland cortex	UBERON:0035825	42.48	gold quality
endocervix	UBERON:0000458	42.32	silver quality
popliteal artery	UBERON:0002250	42.32	silver quality
tibial artery	UBERON:0007610	42.32	silver quality
left adrenal gland	UBERON:0001234	42.08	gold quality
myometrium	UBERON:0001296	42.02	silver quality
right frontal lobe	UBERON:0002810	41.90	gold quality
granulocyte	CL:0000094	41.62	silver quality
tibial nerve	UBERON:0001323	41.40	silver quality
spleen	UBERON:0002106	41.31	silver quality
right adrenal gland cortex	UBERON:0035827	41.11	silver quality
leukocyte	CL:0000738	40.96	silver quality
transverse colon	UBERON:0001157	40.86	silver quality
right adrenal gland	UBERON:0001233	40.84	silver quality
mucosa of stomach	UBERON:0001199	40.79	silver quality
apex of heart	UBERON:0002098	40.67	silver quality
ectocervix	UBERON:0012249	40.65	silver quality
muscle of leg	UBERON:0001383	40.63	gold quality
hindlimb stylopod muscle	UBERON:0004252	40.43	gold quality
body of uterus	UBERON:0009853	40.36	silver quality
olfactory segment of nasal mucosa	UBERON:0005386	40.27	silver quality
right lobe of thyroid gland	UBERON:0001119	39.76	silver quality
saliva-secreting gland	UBERON:0001044	39.68	silver quality
endometrium	UBERON:0001295	39.67	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	79.70
E-CURD-135	no	1111.35
E-HCAD-4	no	78.80
E-ANND-3	no	1.99

HPA expression

RNA tissue specificity: Tissue enhanced

showing 60 of 68 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Choroid plexus	tissue	42.3
Periaqueductal gray	tissue	22.7
Hippocampal formation	tissue	9.4
Corpus callosum	tissue	8.5
Ovary	tissue	8.4	not detected
Septum	tissue	8.1
Epididymis	tissue	7.9	medium
Hypothalamus	tissue	7.8
Thalamus	tissue	7.5
Medulla oblongata	tissue	7.0
Pons	tissue	6.9
Superior colliculi	tissue	6.6
Basal ganglia	tissue	6.5	low
Kidney	tissue	6.5	high
Locus coeruleus	tissue	6.3
Midbrain	tissue	5.9
Hippocampus	tissue	5.7	low
Nucleus accumbens	tissue	4.3
Pituitary gland	tissue	4.2
Amygdala	tissue	4.2
Pancreas	tissue	3.8	medium
Substantia nigra	tissue	3.7
Spinal cord	tissue	3.5
Olfactory bulb	tissue	3.5
Prostate	tissue	3.4	not detected
Ventral forebrain	tissue	3.0
Cerebral cortex	tissue	2.7	medium
Postcentral gyrus	tissue	2.7
Entorhinal cortex	tissue	2.7
Occipital cortex	tissue	2.7
Somatosensory cortex	tissue	2.6
Putamen	tissue	2.4
Motor cortex	tissue	2.3
Prefrontal cortex	tissue	2.2
Retrosplenial and cingulate cortex	tissue	2.2
Insular cortex	tissue	2.1
Temporal cortex	tissue	2.0
Retrosplenial cortex	tissue	1.9
Caudate putamen	tissue	1.7
Cerebellum	tissue	1.3	medium
Frontal cortex	tissue	1.0
Tonsil	tissue	1.0	medium
Retina	tissue	0.9
Bone marrow	tissue	0.4	not detected
Appendix	tissue	0.4	low
Testis	tissue	0.3	not detected
Gallbladder	tissue	0.3	not detected
Adrenal gland	tissue	0.3	medium
Lymph node	tissue	0.2	low
Stomach 1	tissue	0.2	not detected
Heart muscle	tissue	0.2	not detected
Seminal vesicle	tissue	0.2	medium
Esophagus	tissue	0.2	not detected
Liver	tissue	0.2	not detected
Fallopian tube	tissue	0.2	not detected
Skin 1	tissue	0.1	not detected
Vagina	tissue	0.1	not detected
Skeletal muscle	tissue	0.1	not detected
Smooth muscle	tissue	0.1	not detected
Tongue	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Periaquaductal grey, lateral (17.3), Corpus callosum, genu (white matter) (13.3), Dorsal raphe nucleus (13.0), Corpus callosum, splenium (white matter) (12.7), Median raphe nucleus (12.1).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting EPCIP by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 95 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6759-5P	99.99	66.54	785
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-30A-3P	99.87	69.74	2928
HSA-MIR-30D-3P	99.87	69.92	2917
HSA-MIR-30E-3P	99.87	69.68	2942
HSA-MIR-5010-3P	99.83	70.60	2357
HSA-MIR-548AZ-5P	99.83	69.94	3230
HSA-MIR-548T-5P	99.83	69.91	3220
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4694-3P	99.79	69.53	2640

Functional genomics

gnomAD constraint: pLI 1.66e-05, LOEUF 1.65, missense Z 1.37 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000479548 — one region, missense o/e 0.82.

Literature-anchored findings (GeneRIF, showing 2)

• The C21orf120 promoter is activated by serum depletion according to promoter reporter assays in HEK 293 cells. (PMID:20494980)
• Polycystin-1 Interacting Protein-1 (CU062) Interacts with the Ectodomain of Polycystin-1 (PC1). (PMID:37681898)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Epcip	ENSMUSG00000039851
rattus_norvegicus	Epcip	ENSRNOG00000028670

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1921637) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 1 distinct phenotype terms.

Mouse phenotype (MP)	Records
abnormal vertebral arch morphology	1

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
EPCIP-AS1	ncRNA	54067
SYNJ1	protein-coding	8867
PAXBP1	protein-coding	94104
LINC01690	ncRNA	102724502
PAXBP1-AS1	ncRNA	100506215
CFAP298-TCP10L	protein-coding	110091775
CFAP298	protein-coding	56683

Protein

Protein identifiers

Exosomal polycystin-1-interacting protein — Q9NYP8 (reviewed: Q9NYP8)

Alternative names: B37, Polycystin-1-interacting protein 1

All UniProt accessions (2): Q9NYP8, H7BYF8

UniProt curated annotations — full annotation on UniProt →

Function. Likely to be involved with PKD1 in the detection, sequestration and exocytosis of senescent mitochondria.

Subunit / interactions. Homooligomer. Interacts with PKD1 (via the PKD repeats in the N-terminal extracellular region); the interaction is not dependent on N-glycosylation of either protein.

Subcellular location. Vesicle. Secreted. Extracellular exosome.

Tissue specificity. Detected in the kidney and in the endothelium of large blood vessels (at protein level).

Post-translational modifications. N-glycosylated.

Similarity. Belongs to the EPCIP family.

RefSeq proteins (3): NP_001155967, NP_001155968, NP_062542 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR029250	ECPIP	Family

Pfam: PF15137

UniProt features (7 total): glycosylation site 5, signal peptide 1, chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NYP8-F1	76.98	0.35

Human Protein Atlas

Protein class: Predicted secreted proteins, Predicted intracellular proteins, UniProt - Evidence at transcript level

Protein evidence: Evidence at protein level

Antibody reliability (HPA): IH enhanced

Functional residue map

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

Glycosylation sites (5)

Type	Positions
N-linked (glcnac…) asparagine	29, 42, 95, 188, 210

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 93 (showing top): MODULE_255, MODULE_317, CAGCTG_AP4_Q5, BLALOCK_ALZHEIMERS_DISEASE_UP, MYOD_Q6, BROWN_MYELOID_CELL_DEVELOPMENT_DN, FREAC7_01, GOBP_MITOCHONDRION_LOCALIZATION, chr21q22, GOBP_ESTABLISHMENT_OF_MITOCHONDRION_LOCALIZATION, MODULE_95, GOBP_ORGANELLE_LOCALIZATION, GOBP_MITOCHONDRION_DISTRIBUTION, TGGAAA_NFAT_Q4_01, LEIN_CHOROID_PLEXUS_MARKERS

GO Biological Process (1): mitocytosis (GO:0160040)

GO Molecular Function (2): identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (4): extracellular exosome (GO:0070062), migrasome (GO:0140494), extracellular region (GO:0005576), vesicle (GO:0031982)

GO top-level categories

9 GO namespaces:

Category	Terms
mitochondrion distribution	1
establishment of mitochondrion localization	1
migracytosis	1
protein binding	1
binding	1
extracellular vesicle	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
membrane-bounded organelle	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 4 of 7 annotations. The rest are phylogenetic / computational / electronic (IEA).

4 experimentally-supported GO terms:

GO term	NS	Evidence
mitocytosis	BP	direct assay
extracellular exosome	CC	direct assay
migrasome	CC	direct assay
identical protein binding	MF	physical interaction

Protein interactions and networks

STRING

showing 15 of 528 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPCIP	C3orf22	Q8N5N4	470
EPCIP	C12orf56	Q8IXR9	440
EPCIP	SMIM17	P0DL12	436
EPCIP	FAM149B1	Q96BN6	435
EPCIP	C22orf42	Q6IC83	435
EPCIP	ITPRID2	P28290	430
EPCIP	C22orf15	Q8WYQ4	420
EPCIP	PTCD2	Q8WV60	420
EPCIP	SH2D7	A6NKC9	408
EPCIP	ITGBL1	O95965	406
EPCIP	FRRS1L	Q9P0K9	396
EPCIP	C19orf18	Q8NEA5	390
EPCIP	SPDYE4	A6NLX3	390
EPCIP	CLPSL1	A2RUU4	390
EPCIP	RNASE12	Q5GAN4	385

IntAct

Human interaction partners of EPCIP in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

1 partners by confidence:

Partner	Interaction type	MIscore	Records
PKD1	physical association	0.460	6

Disease & clinical

Genetic variants

Variant evidence for EPCIP: 13 ClinVar records (1 pathogenic / likely pathogenic); 1 GWAS association. Per-variant detail is on Sugi Variant.

ClinVar

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

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

Top pathogenic / likely-pathogenic (1)

Showing all 1 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
1526709	GRCh37/hg19 21q21.3-22.12(chr21:27185913-35853445)x1	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore EPCIP’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 17 predictions of 360):

Position(s)	Effect	Δscore	Sites
21:32806568	donor_gain	0.9900
21:32813590–32813591	donor_loss	0.9900	3
21:32813590	donor_loss	0.9800
21:32813591	donor_loss	0.9700
21:32794364	acceptor_gain	0.9600
21:32794486–32794487	acceptor_loss	0.9600	6
21:32813590	donor_gain	0.9400
21:32813588	donor_gain	0.9300
21:32794488	acceptor_loss	0.9000
21:32808537	donor_gain	0.9000

HPA cancer prognostics

RNA cancer specificity: Group enriched (Glioblastoma Multiforme, Kidney Renal Papillary Cell Carcinoma)

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Glioblastoma Multiforme (validation)	unfavorable	7.71e-06

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST008832_12	Gastroesophageal reflux disease	3e-8

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

8 total (human), top 8 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
propionaldehyde	decreases expression	1
arsenite	increases reaction, affects binding	1
fipronil	affects cotreatment, decreases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
DEET	affects cotreatment, decreases expression	1
Rotenone	decreases expression	1
Silicon Dioxide	increases expression	1
Tobacco Smoke Pollution	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.