ERO1B

Summary

ERO1B (endoplasmic reticulum oxidoreductase 1 beta, HGNC:14355) is a protein-coding gene on chromosome 1q42.3, encoding ERO1-like protein beta (Q86YB8). Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum.

Enables protein-disulfide reductase activity and thiol oxidase activity. Involved in protein folding in endoplasmic reticulum. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum lumen and endoplasmic reticulum membrane.

Source: NCBI Gene 56605 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 104 total
• MANE Select transcript: NM_019891

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:14355
Approved symbol	ERO1B
Name	endoplasmic reticulum oxidoreductase 1 beta
Location	1q42.3
Locus type	gene with protein product
Status	Approved
Aliases	ERO1-L(beta), Ero1beta
Ensembl gene	ENSG00000086619
Ensembl biotype	protein_coding
OMIM	615437
Entrez	56605

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 8 retained_intron, 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000264181, ENST00000354619, ENST00000366589, ENST00000685201, ENST00000686625, ENST00000687487, ENST00000687604, ENST00000688164, ENST00000689343, ENST00000691519, ENST00000691874, ENST00000693072

RefSeq mRNA: 1 — MANE Select: NM_019891 NM_019891

CCDS: CCDS31064

Canonical transcript exons

ENST00000354619 — 16 exons

Exon	Start	End
ENSE00000908019	236236278	236236398
ENSE00000908020	236243422	236243495
ENSE00000908025	236281682	236281958
ENSE00000961539	236225070	236225139
ENSE00000961540	236221924	236222010
ENSE00000961541	236220832	236220965
ENSE00001022689	236235789	236235835
ENSE00001022692	236230224	236230250
ENSE00001069563	236226269	236226515
ENSE00001069564	236226647	236226739
ENSE00001319466	236215101	236218576
ENSE00002426368	236232828	236232839
ENSE00003463921	236269875	236269994
ENSE00003474863	236253422	236253505
ENSE00003547265	236252050	236252091
ENSE00003628652	236249885	236249967

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 98.65.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7431 / max 1002.5709, expressed in 1576 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18226	18.7431	1576

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	98.65	gold quality
islet of Langerhans	UBERON:0000006	98.18	gold quality
pancreas	UBERON:0001264	97.31	gold quality
secondary oocyte	CL:0000655	96.11	gold quality
oocyte	CL:0000023	96.02	gold quality
body of stomach	UBERON:0001161	90.00	gold quality
corpus epididymis	UBERON:0004359	89.41	gold quality
type B pancreatic cell	CL:0000169	89.29	gold quality
stomach	UBERON:0000945	87.79	gold quality
endothelial cell	CL:0000115	87.00	gold quality
fundus of stomach	UBERON:0001160	86.28	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.05	gold quality
right lobe of liver	UBERON:0001114	83.47	gold quality
right lobe of thyroid gland	UBERON:0001119	83.29	gold quality
left lobe of thyroid gland	UBERON:0001120	83.17	gold quality
thyroid gland	UBERON:0002046	82.99	gold quality
sural nerve	UBERON:0015488	82.87	gold quality
testis	UBERON:0000473	82.44	gold quality
liver	UBERON:0002107	82.23	gold quality
cerebellar hemisphere	UBERON:0002245	82.16	gold quality
cerebellar cortex	UBERON:0002129	82.09	gold quality
left testis	UBERON:0004533	81.97	gold quality
calcaneal tendon	UBERON:0003701	81.96	gold quality
parotid gland	UBERON:0001831	81.86	gold quality
right testis	UBERON:0004534	81.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	81.34	gold quality
seminal vesicle	UBERON:0000998	81.20	gold quality
gall bladder	UBERON:0002110	80.80	gold quality
adenohypophysis	UBERON:0002196	80.65	gold quality
cerebellum	UBERON:0002037	80.54	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 7.

Experiment	Marker?	Max mean expression
E-GEOD-83139	yes	2855.93
E-GEOD-81547	yes	2751.67
E-ENAD-27	yes	2667.29
E-HCAD-31	yes	1427.77
E-ANND-3	yes	23.64
E-MTAB-5061	yes	19.90
E-GEOD-93593	yes	14.61

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

204 targeting ERO1B, 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-340-5P	100.00	72.50	4437
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-223-3P	99.99	70.14	1140
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955

Literature-anchored findings (GeneRIF, showing 10)

• glutathione limits Ero1-dependent oxidation in the endoplasmic reticulum (PMID:15161913)
• analysis of Ero1beta tissue distribution and dimerization (PMID:16012172)
• Ero1alpha and Ero1beta are retained in the endoplasmic reticulum by interactions with PDI and ERp44 (PMID:16677073)
• the Ero FAD binding domain is critical for conformational stability, allowing Ero proteins to withstand stress conditions that cause client proteins to misfold (PMID:16822866)
• The lack of correlation between changes in SAT adiponectin gene and protein expression and its circulating levels suggests that adipose tissue synthesis and release of adiponectin are highly regulated pathways. (PMID:18996753)
• In the present work, it was shown that recombinant human Ero1beta is twice as active as Ero1alpha in enzymatic assays. (PMID:21091435)
• upregulated in pancreatic neuroendocrine tumors (PMID:26765469)
• This peptide, Ac-VDTTD-AFC, was efficiently cleaved by purified caspase-2 and auto-activating caspase-2 in mammalian cells, and exhibited better selectivity for caspase-2 relative to caspase-3 than reagents that are currently available. (PMID:27919037)
• GJB2 and ERO1LB are implicated in pancreatic cancer progression and can be used to predict patient survival (PMID:28177904)
• Pharmacologic inhibition or knock-down of downstream targets of ATF6a, protein disulfide isomerases (PDI) and ERO1b, a thiol oxidase that is involved in the re-oxidation of PDIs also independently induced pronounced killing of osteosarcoma (OS) cells following chemotherapy. (PMID:31029032)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ero1b	ENSDARG00000103915
mus_musculus	Ero1b	ENSMUSG00000057069
rattus_norvegicus	Ero1b	ENSRNOG00000002609
drosophila_melanogaster	Ero1L	FBGN0261274
caenorhabditis_elegans	ero-1	WBGENE00001334

Paralogs (1): ERO1A (ENSG00000197930)

Protein

Protein identifiers

ERO1-like protein beta — Q86YB8 (reviewed: Q86YB8)

Alternative names: Endoplasmic reticulum oxidoreductase beta, Endoplasmic reticulum oxidoreductin-1-like protein B, Oxidoreductin-1-L-beta

All UniProt accessions (2): Q86YB8, A0A8I5KWQ1

UniProt curated annotations — full annotation on UniProt →

Function. Oxidoreductase involved in disulfide bond formation in the endoplasmic reticulum. Efficiently reoxidizes P4HB/PDI, the enzyme catalyzing protein disulfide formation, in order to allow P4HB to sustain additional rounds of disulfide formation. Other protein disulfide isomerase family members can also be reoxidized, but at lower rates compared to P4HB, including PDIA2 (50% of P4HB reoxidation rate), as well as PDIA3, PDIA4, PDIA6 and NXNDC12 (<10%). Following P4HB reoxidation, passes its electrons to molecular oxygen via FAD, leading to the production of reactive oxygen species (ROS) in the cell. May be involved in oxidative proinsulin folding in pancreatic cells, hence may play a role in glucose homeostasis.

Subunit / interactions. Homodimer; disulfide-linked. Heterodimer with ERO1A; disulfide-linked. Also detected as monomer. Homodimers may be somewhat less active than monomers. Interacts with P4HB. Interacts with ERP44.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Highly expressed in the digestive tract, including the duodenum and lower digestive tract. In the stomach, highly expressed in enzyme-producing chief cells (at protein level). In the pancreas, expressed in islets of Langerhans and, at lower levels, in enzyme-secreting cells (at protein level). Detected at low level in many other tissues.

Post-translational modifications. N-glycosylated. The Cys-90/Cys-95 and Cys-393/Cys-396 disulfide bonds constitute the redox-active center. The Cys-90/Cys-95 disulfide bond accepts electron from P4HB and funnel them to the active site disulfide Cys-393/Cys-396. The Cys-81/Cys-390 disulfide bond may be critical for structural stability. Two long-range disulfide bonds participate in loose feedback regulation. The Cys-90/Cys-130 disulfide bond may be the predominant regulatory switch to modulate the catalytic activity, while the Cys-100/Cys-262 disulfide bond may play an auxiliary regulatory role.

Activity regulation. Glutathione may be required to regulate its activity in the endoplasmic reticulum.

Induction. Up-regulated by inducers of the unfolded protein response (UPR).

Similarity. Belongs to the EROs family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q86YB8-1	1	yes
Q86YB8-2	2

RefSeq proteins (1): NP_063944* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007266	Ero1	Family
IPR037192	ERO1-like_sf	Homologous_superfamily

Pfam: PF04137

Catalyzed reactions (Rhea), 2 shown:

• 2 R’C(R)SH + O2 = R’C(R)S-S(R)CR’ + H2O2 (RHEA:17357)
• [protein]-dithiol + O2 = [protein]-disulfide + H2O2 (RHEA:59116)

UniProt features (29 total): binding site 7, mutagenesis site 7, disulfide bond 6, glycosylation site 4, sequence variant 2, signal peptide 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q86YB8-F1	76.40	0.35

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 (7): 186; 188; 199; 251; 254; 286; 299

Disulfide bonds (6): 81–390, 90–130, 90–95, 100–262, 207–240, 393–396

Glycosylation sites (4): 140, 145, 383, 122

Mutagenesis-validated functional residues (7):

Position	Phenotype
90	no effect on thiol oxidase activity when dtt is used as an electron donor; when associated with a-95. loss of thiol oxid
95	no effect on thiol oxidase activity when dtt is used as an electron donor; when associated with a-90. loss of thiol oxid
100	slightly decreased thiol oxidase activity. significant increased thiol oxidase activity; when associated with a-130.
130	small increase in thiol oxidase activity. significant increased thiol oxidase activity; when associated with a-130.
390	strong decrease in p4hb-binding. efficient homodimerization with both wild-type and a-390 mutated protein.
393	some decrease in p4hb-binding. efficient homodimerization with wild-type protein. loss of thiol oxidase activity when dt
396	some decrease in p4hb-binding. efficient homodimerization with wild-type protein, but loss of homodimerization with a-39

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-264876	Insulin processing

MSigDB gene sets: 218 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, RRAGTTGT_UNKNOWN, BENPORATH_ES_WITH_H3K27ME3, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GOBP_REGULATION_OF_HORMONE_LEVELS, MORI_IMMATURE_B_LYMPHOCYTE_UP, CTATGCA_MIR153, SP1_Q2_01, GOBP_PROTEIN_MATURATION, GOBP_CELL_REDOX_HOMEOSTASIS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_PROTEIN_FOLDING, HELLER_HDAC_TARGETS_SILENCED_BY_METHYLATION_UP, SANSOM_APC_TARGETS_DN, GOBP_CARBOHYDRATE_HOMEOSTASIS

GO Biological Process (8): protein folding (GO:0006457), endoplasmic reticulum to Golgi vesicle-mediated transport (GO:0006888), insulin processing (GO:0030070), extracellular matrix organization (GO:0030198), protein folding in endoplasmic reticulum (GO:0034975), glucose homeostasis (GO:0042593), cell redox homeostasis (GO:0045454), protein maturation (GO:0051604)

GO Molecular Function (7): protein-disulfide reductase activity (GO:0015035), oxidoreductase activity (GO:0016491), thiol oxidase activity (GO:0016972), obsolete unfolded protein binding (GO:0051082), FAD binding (GO:0071949), protein binding (GO:0005515), disulfide oxidoreductase activity (GO:0015036)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum lumen (GO:0005788), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Peptide hormone metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
disulfide oxidoreductase activity	2
cellular process	1
protein maturation	1
intercellular transport	1
intracellular transport	1
Golgi vesicle transport	1
peptide hormone processing	1
insulin metabolic process	1
extracellular structure organization	1
external encapsulating structure organization	1
protein folding	1
carbohydrate homeostasis	1
cellular homeostasis	1
gene expression	1
protein metabolic process	1
catalytic activity, acting on a protein	1
catalytic activity	1
oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor	1
flavin adenine dinucleotide binding	1
binding	1
oxidoreductase activity, acting on a sulfur group of donors	1
endomembrane system	1
intracellular membrane-bounded organelle	1
endoplasmic reticulum	1
intracellular organelle lumen	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

943 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ERO1B	ERP44	Q9BS26	955
ERO1B	JCHAIN	P01591	833
ERO1B	PDIA2	Q13087	708
ERO1B	HSPA5	P11021	646
ERO1B	PDIA4	P13667	641
ERO1B	ITPR1	Q14643	629
ERO1B	XBP1	P17861	618
ERO1B	DNAJC3	Q13217	607
ERO1B	PRDX4	Q13162	578
ERO1B	ATF6	P18850	573
ERO1B	TXN	P10599	572
ERO1B	HYOU1	Q9Y4L1	566
ERO1B	TXNDC5	Q8NBS9	563
ERO1B	HERPUD1	Q15011	561
ERO1B	DNAJB9	Q9UBS3	533
ERO1B	EDEM1	Q92611	533

IntAct

52 interactions, top by confidence:

A	B	Type	Score
FBXO6	MAN2B1	psi-mi:“MI:0914”(association)	0.640
ERP44	MEX3A	psi-mi:“MI:0914”(association)	0.530
UST	GOLIM4	psi-mi:“MI:0914”(association)	0.530
PLA2G10	CHEK1	psi-mi:“MI:0914”(association)	0.530
ERO1B	ATP4A	psi-mi:“MI:0914”(association)	0.530
	PLOD2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
ERO1B	SEC22B	psi-mi:“MI:0915”(physical association)	0.400
ZNF641	ERO1B	psi-mi:“MI:0915”(physical association)	0.400
PDIA4	ERO1B	psi-mi:“MI:0915”(physical association)	0.400
PDIA3	ERO1B	psi-mi:“MI:0915”(physical association)	0.400
ERO1B	P4HB	psi-mi:“MI:0915”(physical association)	0.400
ERO1B	PDIA3	psi-mi:“MI:0915”(physical association)	0.400
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
PTPRK	MANBA	psi-mi:“MI:0914”(association)	0.350
LYZL1	MANBA	psi-mi:“MI:0914”(association)	0.350
LYZL2	MANBA	psi-mi:“MI:0914”(association)	0.350
HEPACAM2	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
NECTIN3	MAK	psi-mi:“MI:0914”(association)	0.350
IGF1R	HAX1	psi-mi:“MI:0914”(association)	0.350
INSR	HAX1	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LLCFC1	POTEF	psi-mi:“MI:0914”(association)	0.350
BRICD5	POTEF	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (82): ERO1LB (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), ATP4A (Affinity Capture-MS), ERO1L (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), GPX4 (Co-fractionation), PSMA4 (Co-fractionation), ERO1LB (Proximity Label-MS), ERO1LB (Proximity Label-MS), ATP4A (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), ERO1LB (Affinity Capture-MS), ERO1L (Affinity Capture-MS)

ESM2 similar proteins: A5PJN2, B1H1F9, B4URD6, B6CVD7, O18823, O43556, O43909, O56140, O70258, P0C152, P28039, P97259, Q01H84, Q08834, Q09328, Q28F39, Q29S03, Q2F4V2, Q4R5B1, Q5HYA8, Q5RAP2, Q6AXF6, Q6DD71, Q6DPZ9, Q6DQ19, Q6DQ21, Q6J8E7, Q6YAT4, Q7SEY9, Q7T3D1, Q7X9I4, Q7YTU4, Q86YB8, Q8BR76, Q8IZ81, Q8NBP0, Q8QPL1, Q8R180, Q8R2E9, Q8R3N6

Diamond homologs: A5PJN2, B1H1F9, B6CVD7, O74401, Q03103, Q6DD71, Q75BB5, Q7SEY9, Q7T3D1, Q7X9I4, Q7YTU4, Q86YB8, Q8NIP5, Q8R180, Q8R2E9, Q8R4A1, Q96HE7, Q9C7S7, Q9V3A6, Q9Y7P1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
ERO1B	“up-regulates quantity by stabilization”	ERP44	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 62 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.

GO biological processes:

GO term	Partners	Fold	FDR
response to endoplasmic reticulum stress	7	22.5×	9e-06
protein folding	6	11.9×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	66
Likely benign	2
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

2642 predictions. Top by Δscore:

Variant	Effect	Δscore
1:236220826:TCTTA:T	donor_loss	1.0000
1:236220827:CTTA:C	donor_loss	1.0000
1:236220828:TTAC:T	donor_loss	1.0000
1:236220829:TA:T	donor_loss	1.0000
1:236220830:A:AG	donor_loss	1.0000
1:236220862:T:TA	donor_gain	1.0000
1:236220961:TGAGT:T	acceptor_gain	1.0000
1:236220962:GAGT:G	acceptor_gain	1.0000
1:236220964:GT:G	acceptor_gain	1.0000
1:236220966:C:CC	acceptor_gain	1.0000
1:236226265:TTA:T	donor_loss	1.0000
1:236226267:A:AC	donor_gain	1.0000
1:236226268:C:CA	donor_gain	1.0000
1:236226268:CT:C	donor_gain	1.0000
1:236226511:GGTTT:G	acceptor_gain	1.0000
1:236226512:GTTT:G	acceptor_gain	1.0000
1:236226513:TTT:T	acceptor_gain	1.0000
1:236226514:TT:T	acceptor_gain	1.0000
1:236226515:TCTA:T	acceptor_loss	1.0000
1:236226516:C:CC	acceptor_gain	1.0000
1:236226516:CT:C	acceptor_loss	1.0000
1:236226517:T:C	acceptor_loss	1.0000
1:236235784:CCTA:C	donor_loss	1.0000
1:236235786:TA:T	donor_loss	1.0000
1:236235788:C:CT	donor_loss	1.0000
1:236236276:A:AC	donor_gain	1.0000
1:236236277:C:CC	donor_gain	1.0000
1:236236279:TGAA:T	donor_gain	1.0000
1:236243493:TTA:T	acceptor_gain	1.0000
1:236243494:TA:T	acceptor_gain	1.0000

AlphaMissense

3073 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:236236307:C:A	W199C	1.000
1:236236307:C:G	W199C	1.000
1:236236309:A:G	W199R	1.000
1:236236309:A:T	W199R	1.000
1:236218564:A:C	S452R	0.999
1:236218564:A:T	S452R	0.999
1:236218566:T:G	S452R	0.999
1:236221936:C:A	W399C	0.999
1:236221936:C:G	W399C	0.999
1:236221938:A:G	W399R	0.999
1:236221938:A:T	W399R	0.999
1:236221946:C:G	C396S	0.999
1:236221947:A:T	C396S	0.999
1:236221963:A:C	C390W	0.999
1:236221964:C:A	C390F	0.999
1:236221964:C:T	C390Y	0.999
1:236225103:A:C	F363L	0.999
1:236225103:A:T	F363L	0.999
1:236225104:A:C	F363C	0.999
1:236225105:A:G	F363L	0.999
1:236226386:C:G	R312P	0.999
1:236226389:A:G	L311P	0.999
1:236226684:G:C	S256R	0.999
1:236226684:G:T	S256R	0.999
1:236226686:T:G	S256R	0.999
1:236226694:A:G	L253P	0.999
1:236226697:C:T	G252E	0.999
1:236226698:C:G	G252R	0.999
1:236226698:C:T	G252R	0.999
1:236236365:A:G	L180P	0.999

dbSNP variants (sampled 300 via entrez): RS1000010399 (1:236239530 C>T), RS1000079621 (1:236268156 G>C), RS1000084377 (1:236232468 C>A), RS1000115800 (1:236256160 G>C), RS1000117536 (1:236282517 G>A), RS1000132042 (1:236216458 A>G), RS1000178464 (1:236225723 C>T), RS1000179917 (1:236273713 G>C), RS1000232308 (1:236273385 A>G), RS1000338148 (1:236218923 A>C,G), RS1000345959 (1:236280108 T>A), RS1000412504 (1:236215792 G>A), RS1000523339 (1:236246560 T>C), RS1000539773 (1:236232698 A>C,G), RS1000658259 (1:236251293 T>C)

Disease associations

OMIM: gene MIM:615437 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST002826_3	Urate levels (BMI interaction)	6.000000e-06
GCST002827_2	Urate levels (BMI interaction)	1.000000e-07
GCST004485_48	Survival in pancreatic cancer	5.000000e-07
GCST006585_2730	Blood protein levels	9.000000e-37

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0004531	urate measurement
EFO:0000638	overall survival

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
Valproic Acid	affects cotreatment, increases expression, affects expression	5
sodium arsenite	affects expression, decreases expression, affects cotreatment, increases abundance, increases expression	4
Cyclosporine	increases expression	4
Benzo(a)pyrene	decreases expression, decreases methylation	3
Tunicamycin	increases expression	3
trichostatin A	decreases expression, affects cotreatment	2
(+)-JQ1 compound	decreases expression, increases expression	2
Doxorubicin	decreases expression, increases expression	2
Tobacco Smoke Pollution	increases expression	2
Tretinoin	decreases expression, increases expression	2
Cadmium Chloride	increases abundance, increases expression	2
GSK-J4	increases expression	1
lasiocarpine	decreases expression	1
triphenyl phosphate	affects expression	1
bis(tri-n-butyltin)oxide	increases expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
resorcinol	decreases expression	1
mercuric bromide	affects cotreatment, decreases expression	1
dinophysistoxin 1	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
corosolic acid	increases expression	1
2-palmitoylglycerol	increases expression	1
fenpyroximate	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dimethylarsinous acid	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1

Clinical trials (associated diseases)

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