POFUT4

Summary

POFUT4 (protein O-fucosyltransferase 4, HGNC:19233) is a protein-coding gene on chromosome 10q22.2, encoding GDP-fucose protein O-fucosyltransferase 4 (Q495W5). Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1.

Enables fucosyltransferase activity. Involved in N-glycan fucosylation. Predicted to be located in Golgi cisterna membrane and Golgi membrane. Implicated in stomach cancer. Biomarker of stomach cancer.

Source: NCBI Gene 170384 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_173540

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19233
Approved symbol	POFUT4
Name	protein O-fucosyltransferase 4
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	MGC33202
Ensembl gene	ENSG00000196968
Ensembl biotype	protein_coding
OMIM	616932
Entrez	170384

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 2 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000372841, ENST00000394790, ENST00000465695, ENST00000489264

RefSeq mRNA: 2 — MANE Select: NM_173540 NM_001284194, NM_173540

CCDS: CCDS60558, CCDS7333

Canonical transcript exons

ENST00000372841 — 3 exons

Exon	Start	End
ENSE00001288348	73773190	73773815
ENSE00001458781	73775541	73776219
ENSE00003850266	73772276	73773041

Expression profiles

Bgee: expression breadth ubiquitous, 251 present calls, max score 96.01.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.7054 / max 102.7102, expressed in 1795 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
105541	6.1913	1684
105542	4.7845	1623
105543	1.0661	539
105545	0.7101	334
105544	0.5825	280
105546	0.3370	164
105547	0.0340	8

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.01	gold quality
left ventricle myocardium	UBERON:0006566	94.27	gold quality
cardiac muscle of right atrium	UBERON:0003379	93.62	gold quality
lower esophagus mucosa	UBERON:0035834	91.63	gold quality
cartilage tissue	UBERON:0002418	91.49	gold quality
granulocyte	CL:0000094	91.00	gold quality
stromal cell of endometrium	CL:0002255	90.69	gold quality
apex of heart	UBERON:0002098	88.83	gold quality
calcaneal tendon	UBERON:0003701	88.28	gold quality
ascending aorta	UBERON:0001496	87.74	gold quality
thoracic aorta	UBERON:0001515	87.74	gold quality
descending thoracic aorta	UBERON:0002345	87.73	gold quality
myocardium	UBERON:0002349	87.70	gold quality
cardiac atrium	UBERON:0002081	87.47	gold quality
right atrium auricular region	UBERON:0006631	87.27	gold quality
tibia	UBERON:0000979	86.86	gold quality
right coronary artery	UBERON:0001625	86.81	gold quality
pericardium	UBERON:0002407	86.58	gold quality
aorta	UBERON:0000947	86.54	gold quality
heart	UBERON:0000948	86.43	gold quality
heart left ventricle	UBERON:0002084	86.29	gold quality
cardiac ventricle	UBERON:0002082	86.13	gold quality
islet of Langerhans	UBERON:0000006	85.94	gold quality
esophagus squamous epithelium	UBERON:0006920	85.92	gold quality
left coronary artery	UBERON:0001626	85.78	gold quality
tibial artery	UBERON:0007610	85.73	gold quality
popliteal artery	UBERON:0002250	85.71	gold quality
spleen	UBERON:0002106	85.49	gold quality
right lung	UBERON:0002167	85.48	gold quality
coronary artery	UBERON:0001621	85.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.42

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

48 targeting POFUT4, 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-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-548BC	99.82	70.61	3524
HSA-MIR-548E-3P	99.82	70.59	3514
HSA-MIR-548F-3P	99.82	70.59	3540
HSA-MIR-489-3P	99.80	66.46	839
HSA-MIR-577	99.78	69.13	2479
HSA-MIR-548A-3P	99.76	70.58	3524
HSA-MIR-12129	99.72	67.45	1311
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-19A-5P	99.36	66.93	1675
HSA-MIR-19B-1-5P	99.36	67.07	1669
HSA-MIR-19B-2-5P	99.36	67.07	1669
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-548L	99.06	70.90	2560
HSA-MIR-4650-3P	99.01	68.39	1062
HSA-MIR-4724-5P	98.87	67.75	1324

Literature-anchored findings (GeneRIF, showing 4)

• Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11). (PMID:19088067)
• FUT11’s expression might be potentially used as a biomarker of disease progression in clear cell renal cell carcinoma (PMID:24318988)
• FUT11 is a target gene of HIF1alpha that promotes the progression of hepatocellular carcinoma. (PMID:34288238)
• Dry and wet experiments reveal the significant role of FUT11 in clear cell renal cell carcinoma. (PMID:36403525)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	fut11	ENSDARG00000102402
mus_musculus	Fut11	ENSMUSG00000039357
rattus_norvegicus	Fut11	ENSRNOG00000009274
drosophila_melanogaster	FucTD	FBGN0035217
caenorhabditis_elegans		WBGENE00001505
caenorhabditis_elegans		WBGENE00001507
caenorhabditis_elegans		WBGENE00004010
caenorhabditis_elegans		WBGENE00006402
caenorhabditis_elegans		WBGENE00007211
caenorhabditis_elegans		WBGENE00012922
caenorhabditis_elegans		WBGENE00016163
caenorhabditis_elegans		WBGENE00017343
caenorhabditis_elegans		WBGENE00043986
caenorhabditis_elegans		WBGENE00044383
caenorhabditis_elegans		WBGENE00194870
caenorhabditis_elegans		WBGENE00206359

Paralogs (7): FUT5 (ENSG00000130383), FUT6 (ENSG00000156413), FUT3 (ENSG00000171124), FUT9 (ENSG00000172461), FUT10 (ENSG00000172728), FUT7 (ENSG00000180549), FUT4 (ENSG00000196371)

Protein

Protein identifiers

GDP-fucose protein O-fucosyltransferase 4 — Q495W5 (reviewed: Q495W5)

Alternative names: Alpha-(1,3)-fucosyltransferase 11, Fucosyltransferase XI, Galactoside 3-L-fucosyltransferase 11

All UniProt accessions (1): Q495W5

UniProt curated annotations — full annotation on UniProt →

Function. Protein O-fucosyltransferase that specifically catalyzes O-fucosylation of serine or threonine residues in EMI domains of target proteins, such as MMRN1, MMRN2 and EMID1. Attaches fucose through an O-glycosidic linkage. O-fucosylation of EMI domain-containing proteins may be required for facilitating protein folding and secretion. Also shows minor alpha-(1,3)-fucosyltransferase activity toward activity toward biantennary N-glycan acceptors. However, this was tested with a library of synthetic substrates and this activity is unsure in vivo.

Subcellular location. Endoplasmic reticulum membrane.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 10 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q495W5-1	1	yes
Q495W5-2	2

RefSeq proteins (2): NP_001271123, NP_775811* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001503	Glyco_trans_10	Family
IPR017176	Alpha-1_3-FUT_met	Family
IPR031481	Glyco_tran_10_N	Domain
IPR038577	GT10-like_C_sf	Homologous_superfamily
IPR055270	Glyco_tran_10_C	Domain

Pfam: PF00852, PF17039

Enzyme classification (BRENDA):

• EC 2.4.1.152 — 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase (BRENDA: 24 organisms, 171 substrates, 55 inhibitors, 103 Km, 24 kcat entries)
• EC 2.4.1.65 — 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase (BRENDA: 16 organisms, 191 substrates, 64 inhibitors, 119 Km, 15 kcat entries)

Substrate kinetics (BRENDA)

105 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GDP-FUCOSE	0.03–0.244	19
GDP-BETA-L-FUCOSE	0.0001–1.12	18
N-ACETYLLACTOSAMINE	0.0026–0.61	9
GDP-L-FUCOSE	0.005–0.035	8
D-LACTOSE	72–543	6
GAL-BETA-1,4-GLCNAC-O-(CH2)8CO2CH3	0.17–2.2	6
GDP-FUCOSE	0.0016–0.06	5
GDP-L-FUCOSE	0.0055–0.062	5
FUCALPHA(1,2)GALBETA(1,3)GLCNAC	0.1–3.8	5
FUCALPHA(1,2)GALBETA(1,4)GLCNAC	0.7–3.9	4
GALBETA1,4GLCNAC-O(CH2)8CO2CH3	0.37–1.7	4
FUC-ALPHA-1,2GAL-BETA-1,3GLCNAC-SP-BIOTIN	0.2–2.5	4
GAL-BETA-1,3-GLCNAC-O-(CH2)8CO2CH3	8.4–22.7	4
GAL-BETA-1,3GLCNACO(CH2)3NHCO(CH2)5NH-BIOTIN	0.7–3.3	4
GALBETA(1,4)GLCNAC	1.4–23	3

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + GDP-beta-L-fucose = 3-O-(alpha-L-fucosyl)-L-seryl-[protein] + GDP + H(+) (RHEA:63644)
• L-threonyl-[protein] + GDP-beta-L-fucose = 3-O-(alpha-L-fucosyl)-L-threonyl-[protein] + GDP + H(+) (RHEA:70491)

UniProt features (9 total): topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, disulfide bond 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q495W5-F1	86.53	0.76

Functional residue map

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

Disulfide bonds (1): 389–392

Glycosylation sites (2): 166, 443

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5173105	O-linked glycosylation

MSigDB gene sets: 160 (showing top): GOBP_N_GLYCAN_PROCESSING, RRAGTTGT_UNKNOWN, HORIUCHI_WTAP_TARGETS_DN, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, MENSE_HYPOXIA_UP, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, TGACCTY_ERR1_Q2, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, NKX61_01, EVI1_05, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, TGCTGAY_UNKNOWN, BILD_E2F3_ONCOGENIC_SIGNATURE, WAGNER_APO2_SENSITIVITY

GO Biological Process (7): N-glycan processing (GO:0006491), protein O-linked glycosylation (GO:0006493), positive regulation of protein secretion (GO:0050714), obsolete protein glycosylation (GO:0006486), obsolete fucosylation (GO:0036065), protein O-linked glycosylation via fucose (GO:0036066), obsolete N-glycan fucosylation (GO:0036071)

GO Molecular Function (6): fucosyltransferase activity (GO:0008417), alpha-(1->3)-fucosyltransferase activity (GO:0046920), peptide-O-fucosyltransferase activity (GO:0046922), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational protein modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	2
fucosyltransferase activity	2
protein N-linked glycosylation	1
protein secretion	1
regulation of protein secretion	1
positive regulation of protein transport	1
positive regulation of secretion by cell	1
protein O-linked glycosylation	1
hexosyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	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

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POFUT4	FUT8	Q9BYC5	723
POFUT4	FUT1	P19526	687
POFUT4	POFUT2	Q9Y2G5	670
POFUT4	POFUT1	Q9H488	604
POFUT4	FUT2	Q10981	570
POFUT4	ST3GAL6	Q9Y274	467
POFUT4	B3GNT5	Q9BYG0	462
POFUT4	ST3GAL5	Q9UNP4	447
POFUT4	FUCA1	P04066	428
POFUT4	MGAT5	Q09328	425
POFUT4	SLC35C1	Q96A29	421
POFUT4	MAN1A1	P33908	419
POFUT4	MGAT4A	Q9UM21	418
POFUT4	GMDS	O60547	418
POFUT4	B3GALT5	Q9Y2C3	412

IntAct

89 interactions, top by confidence:

A	B	Type	Score
B3GNT3	PGRMC1	psi-mi:“MI:0914”(association)	0.670
CHST14	CANX	psi-mi:“MI:0914”(association)	0.640
CRIPTO	AIP	psi-mi:“MI:0914”(association)	0.640
MEOX2	FUT11	psi-mi:“MI:0915”(physical association)	0.560
REL	FUT11	psi-mi:“MI:0915”(physical association)	0.560
FUT11	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
PRSS37	MANBA	psi-mi:“MI:0914”(association)	0.530
CPA6	PPM1G	psi-mi:“MI:0914”(association)	0.530
INSL5	COCH	psi-mi:“MI:0914”(association)	0.530
PLAUR	XRCC3	psi-mi:“MI:0914”(association)	0.530
PRG3	ZNF324	psi-mi:“MI:0914”(association)	0.530
WNT7A	LDLR	psi-mi:“MI:0914”(association)	0.530
DNASE2B	ARSA	psi-mi:“MI:0914”(association)	0.530
CTSG	MANBA	psi-mi:“MI:0914”(association)	0.530
ADAMTS4	MANBA	psi-mi:“MI:0914”(association)	0.530
TIMP3	ZZEF1	psi-mi:“MI:0914”(association)	0.530
	VPS37C	psi-mi:“MI:0914”(association)	0.350
PI15	GLS	psi-mi:“MI:0914”(association)	0.350
KLK15	SPINT1	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
C1QTNF8	VWA8	psi-mi:“MI:0914”(association)	0.350
NAAA	POTEF	psi-mi:“MI:0914”(association)	0.350
SUSD4	CCDC85C	psi-mi:“MI:0914”(association)	0.350
RLN1	RTL8C	psi-mi:“MI:0914”(association)	0.350
OLFM2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
PRG2	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
CEACAM8	PRRT4	psi-mi:“MI:0914”(association)	0.350

BioGRID (105): FUT11 (Two-hybrid), FUT11 (Two-hybrid), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS), FUT11 (Affinity Capture-MS)

ESM2 similar proteins: A2A699, A2XVC2, A8MVW0, B0F2B4, D3ZE55, O09017, O14492, O62763, O95206, P10588, P21836, P22303, P23795, P36196, P37136, P43029, P43136, P50427, Q14003, Q29RK8, Q2QXZ2, Q2RAQ5, Q3U0S6, Q495W5, Q4ACU6, Q5T442, Q5U651, Q5ZMM1, Q62888, Q62889, Q63959, Q69ZK9, Q6UXK2, Q76KP1, Q7FA29, Q7Z4P5, Q80WV3, Q80XF7, Q869C3, Q8BQU6

Diamond homologs: G3MZR2, G5EDR5, G5EE06, G5EEE1, G5EFP5, O19058, O30511, O88819, P21217, P51993, P56433, P56434, P83088, Q11126, Q11127, Q11128, Q11130, Q11131, Q495W5, Q62994, Q659L1, Q70AG8, Q712G6, Q8HYJ3, Q8HYJ4, Q8HYJ5, Q8HYJ6, Q8HYJ7, Q8HZR2, Q99JB3, Q9C8W3, Q9GKU6, Q9LJK1, Q9VUL9, P22083, Q08C60, Q5F2L1, Q5F2N2, Q5F2N3, Q5F2N4

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 116 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
Beta defensins	5	16.4×	2e-03
Neutrophil degranulation	15	4.2×	8e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	62
Likely benign	3
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

482 predictions. Top by Δscore:

Variant	Effect	Δscore
10:73773812:ACAGG:A	donor_loss	1.0000
10:73773813:CAGG:C	donor_loss	1.0000
10:73773814:AGG:A	donor_loss	1.0000
10:73773815:GGTA:G	donor_loss	1.0000
10:73773816:G:C	donor_loss	1.0000
10:73773817:T:A	donor_loss	1.0000
10:73773041:GGT:G	donor_loss	0.9900
10:73773042:G:GG	donor_gain	0.9900
10:73773043:T:A	donor_loss	0.9900
10:73773044:GAGT:G	donor_loss	0.9900
10:73773811:GACAG:G	donor_gain	0.9900
10:73773816:G:GG	donor_gain	0.9900
10:73775418:GCA:G	acceptor_gain	0.9700
10:73775539:A:AG	acceptor_gain	0.9700
10:73775540:G:GG	acceptor_gain	0.9700
10:73773037:TCCCG:T	donor_gain	0.9600
10:73775539:AGTT:A	acceptor_gain	0.9600
10:73775540:GTTG:G	acceptor_gain	0.9600
10:73775331:T:TA	donor_gain	0.9400
10:73775332:A:AA	donor_gain	0.9400
10:73775540:GTT:G	acceptor_gain	0.9400
10:73775190:A:G	donor_gain	0.9200
10:73773812:ACAG:A	donor_gain	0.9100
10:73773813:CAG:C	donor_gain	0.9100
10:73775228:T:TA	acceptor_gain	0.9000
10:73775539:AGTTG:A	acceptor_gain	0.9000
10:73775540:GTTGG:G	acceptor_gain	0.9000
10:73773040:CG:C	donor_gain	0.8900
10:73773041:GG:G	donor_gain	0.8900
10:73773184:GTCTA:G	acceptor_loss	0.8800

AlphaMissense

3212 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:73772759:G:C	W142C	0.999
10:73772759:G:T	W142C	0.999
10:73773307:T:C	F276L	0.999
10:73773308:T:C	F276S	0.999
10:73773309:C:A	F276L	0.999
10:73773309:C:G	F276L	0.999
10:73773323:A:T	E281V	0.999
10:73773327:T:A	N282K	0.999
10:73773327:T:G	N282K	0.999
10:73773334:T:C	C285R	0.999
10:73773335:G:A	C285Y	0.999
10:73773336:T:G	C285W	0.999
10:73773353:A:T	E291V	0.999
10:73773600:G:C	W373C	0.999
10:73773600:G:T	W373C	0.999
10:73772757:T:A	W142R	0.998
10:73772757:T:C	W142R	0.998
10:73772844:T:C	F171L	0.998
10:73772846:C:A	F171L	0.998
10:73772846:C:G	F171L	0.998
10:73773025:T:C	L231P	0.998
10:73773208:T:A	C243S	0.998
10:73773208:T:C	C243R	0.998
10:73773209:G:C	C243S	0.998
10:73773325:A:C	N282H	0.998
10:73773326:A:T	N282I	0.998
10:73773335:G:T	C285F	0.998
10:73773356:A:T	K292I	0.998
10:73773760:T:A	C427S	0.998
10:73773760:T:C	C427R	0.998

dbSNP variants (sampled 300 via entrez): RS1000258573 (10:73774573 A>G), RS1000289824 (10:73774316 T>A,C), RS1000368976 (10:73779647 C>T), RS1000569711 (10:73774789 G>A), RS1001110001 (10:73779906 T>C), RS1001473776 (10:73778339 G>A), RS1001540162 (10:73779700 C>T), RS1001631817 (10:73780309 TAAA>T,TA,TAA,TAAAA), RS1001841204 (10:73778534 A>G), RS1002020567 (10:73775268 C>T), RS1002079662 (10:73774914 A>C), RS1002261813 (10:73771992 C>G,T), RS1002292892 (10:73771783 G>C), RS1003009500 (10:73770537 A>G), RS1003107715 (10:73776883 G>A)

Disease associations

OMIM: gene MIM:616932 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004132_74	Crohn’s disease	2.000000e-09
GCST007656_13	Chronic obstructive pulmonary disease or resting heart rate (pleiotropy)	2.000000e-10
GCST010043_15	Asthma	1.000000e-08

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	decreases expression	3
sodium arsenite	increases expression, decreases expression	2
Valproic Acid	decreases expression, affects expression	2
aristolochic acid I	decreases expression	1
sotorasib	affects cotreatment, decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
mono-(2-ethylhexyl)phthalate	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
cobaltous chloride	increases expression	1
perfluorooctanoic acid	decreases expression	1
pentanal	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	decreases expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	decreases expression	1
Leflunomide	decreases expression	1
Ethanol	affects cotreatment, increases expression	1
Calcitriol	increases expression	1
Demecolcine	decreases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Folic Acid	affects cotreatment, increases expression	1

Clinical trials (associated diseases)

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