POFUT3

Summary

POFUT3 (protein O-fucosyltransferase 3, HGNC:19234) is a protein-coding gene on chromosome 8p12, encoding GDP-fucose protein O-fucosyltransferase 3 (Q6P4F1). 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. Located in Golgi apparatus; endoplasmic reticulum; and nucleoplasm.

Source: NCBI Gene 84750 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 53 total
• Druggable target: yes
• MANE Select transcript: NM_032664

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19234
Approved symbol	POFUT3
Name	protein O-fucosyltransferase 3
Location	8p12
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000172728
Ensembl biotype	protein_coding
OMIM	616931
Entrez	84750

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 5 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron

ENST00000327671, ENST00000416169, ENST00000517891, ENST00000517942, ENST00000518076, ENST00000518672, ENST00000519440, ENST00000520503, ENST00000520767, ENST00000520935, ENST00000524021, ENST00000923867, ENST00000923868

RefSeq mRNA: 1 — MANE Select: NM_032664 NM_032664

CCDS: CCDS6088

Canonical transcript exons

ENST00000327671 — 5 exons

Exon	Start	End
ENSE00001483686	33370824	33372804
ENSE00002105309	33473064	33473146
ENSE00003460097	33453216	33453510
ENSE00003609955	33461372	33461725
ENSE00003660993	33388963	33389798

Expression profiles

Bgee: expression breadth ubiquitous, 182 present calls, max score 89.58.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.1853 / max 248.5479, expressed in 1648 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
92656	6.0424	1641
92657	0.1274	30
92652	0.0115	3
92655	0.0041	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	89.58	silver quality
oocyte	CL:0000023	87.77	gold quality
secondary oocyte	CL:0000655	86.41	gold quality
calcaneal tendon	UBERON:0003701	83.03	gold quality
left testis	UBERON:0004533	82.30	gold quality
ventricular zone	UBERON:0003053	81.72	gold quality
right testis	UBERON:0004534	81.07	gold quality
stromal cell of endometrium	CL:0002255	80.94	gold quality
testis	UBERON:0000473	80.18	gold quality
tibialis anterior	UBERON:0001385	79.90	silver quality
colonic epithelium	UBERON:0000397	78.84	gold quality
adrenal tissue	UBERON:0018303	78.33	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	77.94	gold quality
islet of Langerhans	UBERON:0000006	77.80	gold quality
upper arm skin	UBERON:0004263	77.64	gold quality
smooth muscle tissue	UBERON:0001135	76.94	gold quality
sural nerve	UBERON:0015488	76.88	gold quality
corpus callosum	UBERON:0002336	76.87	gold quality
ganglionic eminence	UBERON:0004023	76.76	gold quality
ileal mucosa	UBERON:0000331	76.29	gold quality
bone marrow cell	CL:0002092	76.17	gold quality
descending thoracic aorta	UBERON:0002345	76.08	gold quality
pancreas	UBERON:0001264	75.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	75.25	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	74.59	gold quality
left ovary	UBERON:0002119	74.58	gold quality
thoracic aorta	UBERON:0001515	74.49	gold quality
body of pancreas	UBERON:0001150	74.46	gold quality
ascending aorta	UBERON:0001496	74.46	gold quality
skin of abdomen	UBERON:0001416	74.36	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.80

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

89 targeting POFUT3, 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-3163	100.00	77.23	8605
HSA-MIR-3134	100.00	66.43	777
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3681-5P	99.82	66.88	387
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-34B-5P	99.78	67.56	1175
HSA-MIR-449C-5P	99.78	67.63	1168
HSA-MIR-623	99.76	68.16	1170
HSA-MIR-2682-5P	99.73	67.38	1055
HSA-MIR-4802-3P	99.72	70.13	1273
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-1283	99.69	72.42	3009
HSA-MIR-6849-5P	99.64	66.00	352
HSA-MIR-6134	99.63	65.68	1537
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-892A	99.54	68.16	1141

Literature-anchored findings (GeneRIF, showing 2)

• Comparison of human and mouse Fuc-TX and Fuc-TXI genes, and expression studies in the mouse. (PMID:12370785)
• Activity, splice variants, conserved peptide motifs, and phylogeny of two new alpha1,3-fucosyltransferase families (FUT10 and FUT11). (PMID:19088067)

Cross-species orthologs

15 orthologs

Organism	Symbol	Gene ID
danio_rerio	fut10	ENSDARG00000100322
mus_musculus	Fut10	ENSMUSG00000046152
rattus_norvegicus	Fut10	ENSRNOG00000050857
drosophila_melanogaster	FucTB	FBGN0032117
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), FUT7 (ENSG00000180549), FUT4 (ENSG00000196371), FUT11 (ENSG00000196968)

Protein

Protein identifiers

GDP-fucose protein O-fucosyltransferase 3 — Q6P4F1 (reviewed: Q6P4F1)

Alternative names: Alpha-(1,3)-fucosyltransferase 10, Fucosyltransferase X, Galactoside 3-L-fucosyltransferase 10

All UniProt accessions (1): Q6P4F1

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. May also show alpha-(1,3)-fucosyltransferase activity toward the innermost N-acetyl glucosamine (GlcNAc) residue in biantennary N-glycan acceptors. However, this was tested with a library of synthetic substrates and this activity is unsure in vivo. May be involved in biosynthesis of Lewis X-carrying biantennary N-glycans that regulate neuron stem cell self-renewal during brain development.

Subcellular location. Endoplasmic reticulum membrane Endoplasmic reticulum membrane. Golgi apparatus membrane Golgi apparatus. Lysosome Endoplasmic reticulum membrane. Golgi apparatus membrane.

Tissue specificity. Expressed in lung, digestive tract, gall bladder, placenta, kidney, uterus and brain. Not detected in spleen, heart, muscle, liver and pancreas.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 10 family.

Isoforms (7)

UniProt ID	Names	Canonical?
Q6P4F1-1	1	yes
Q6P4F1-2	2
Q6P4F1-3	3
Q6P4F1-4	4
Q6P4F1-5	5
Q6P4F1-6	6
Q6P4F1-7	7

RefSeq proteins (1): NP_116053* (*=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 2.4.1.65 — 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase (BRENDA: 16 organisms, 191 substrates, 64 inhibitors, 119 Km, 15 kcat entries)

Substrate kinetics (BRENDA)

55 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-L-FUCOSE	0.005–0.035	8
GAL-BETA-1,4-GLCNAC-O-(CH2)8CO2CH3	0.17–2.2	6
FUCALPHA(1,2)GALBETA(1,3)GLCNAC	0.1–3.8	5
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
FUC-ALPHA-1,2GAL-BETA-1,4GLCNAC-SP-BIOTIN	0.1–1.3	3
GALBETA(1,3)GLCNAC	0.6–12.7	3
GALBETA(1,4)GLCNAC	0.035–8.1	3
GDP-BETA-L-FUCOSE	0.0057–0.0337	3
(GAL-3-O-ME)BETA(1-3)(GLCNAC-6-O-ME)BETA-O-ME	0.12–2.7	2
2-O-MEGALBETA(1,3)GLCNACBETA-O-BN	0.16–0.4	2
3-O-SULFOGALBETA(1,3)GLCNACBETA-O-AL	0.047–0.1	2
FORMIC ACID (2R,3R,4S,5R,6R)-2-((2R,3R,4R,5R,6R)	0.075–1.3	2

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 (20 total): splice variant 9, sequence variant 4, topological domain 2, glycosylation site 2, chain 1, transmembrane region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6P4F1-F1	87.99	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): 110, 168

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5173105	O-linked glycosylation

MSigDB gene sets: 133 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GOBP_N_GLYCAN_PROCESSING, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_POSITIVE_REGULATION_OF_PROTEIN_LOCALIZATION, GOBP_PROTEIN_TARGETING, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_WOUND_HEALING, GOBP_STEM_CELL_DIVISION, GOBP_REGULATION_OF_PROTEIN_SECRETION, GOBP_PROTEIN_MATURATION, YY1_02, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, GOBP_CARBOHYDRATE_METABOLIC_PROCESS

GO Biological Process (19): protein folding (GO:0006457), N-glycan processing (GO:0006491), protein O-linked glycosylation (GO:0006493), protein targeting (GO:0006605), nervous system development (GO:0007399), glycoprotein biosynthetic process (GO:0009101), fertilization (GO:0009566), cerebral cortex radially oriented cell migration (GO:0021799), hemopoiesis (GO:0030097), neuronal stem cell division (GO:0036445), wound healing (GO:0042060), L-fucose catabolic process (GO:0042355), positive regulation of protein secretion (GO:0050714), neuronal stem cell population maintenance (GO:0097150), neuroblast migration (GO:0097402), 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 (5): fucosyltransferase activity (GO:0008417), alpha-(1->3)-fucosyltransferase activity (GO:0046920), peptide-O-fucosyltransferase activity (GO:0046922), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (7): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), lysosome (GO:0005764), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), Golgi apparatus (GO:0005794), 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
cellular anatomical structure	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
cellular process	1
protein maturation	1
protein N-linked glycosylation	1
establishment of protein localization	1
system development	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
sexual reproduction	1
reproductive process	1
cerebral cortex cell migration	1
cell development	1
somatic stem cell division	1
response to wounding	1
tissue regeneration	1
hexose catabolic process	1
L-fucose metabolic process	1
protein secretion	1
regulation of protein secretion	1
positive regulation of protein transport	1
positive regulation of secretion by cell	1
stem cell population maintenance	1
cell migration	1
protein O-linked glycosylation	1
hexosyltransferase activity	1
catalytic activity, acting on a protein	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
lytic vacuole	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1

Protein interactions and networks

STRING

412 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
POFUT3	TMEM161B	Q8NDZ6	464
POFUT3	FUT1	P19526	454
POFUT3	FUT8	Q9BYC5	428
POFUT3	PIGG	Q5H8A4	420
POFUT3	SELE	P16111	404
POFUT3	ST3GAL4	Q11206	397
POFUT3	PSD3	Q9NYI0	393
POFUT3	SELPLG	Q14242	370
POFUT3	FUT2	Q10981	364
POFUT3	SELP	P16109	355
POFUT3	ZNF664	Q8N3J9	348
POFUT3	POFUT1	Q9H488	343
POFUT3	GCNT2	Q8N0V5	327
POFUT3	RFLNA	Q6ZTI6	323
POFUT3	VPS13A	Q96RL7	318

IntAct

7 interactions, top by confidence:

A	B	Type	Score
TMED6	SMPD2	psi-mi:“MI:0914”(association)	0.530
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
PLTP	CLGN	psi-mi:“MI:0914”(association)	0.350
ASIC4	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (15): FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-RNA), FUT10 (Affinity Capture-RNA), FUT10 (Negative Genetic), FUT10 (Affinity Capture-RNA), FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-MS), FUT11 (Negative Genetic), FUT10 (Cross-Linking-MS (XL-MS)), FUT10 (Affinity Capture-MS), FUT10 (Affinity Capture-MS), FUT10 (Protein-RNA)

ESM2 similar proteins: A0JND3, B7ZWR7, F4HXW9, F4I6V0, F4KF16, O43909, O81053, P97259, Q08834, Q08CD5, Q08CY9, Q09328, Q5F2N4, Q5NDE4, Q5NDE5, Q5NDE6, Q5NDE7, Q5NDE8, Q5NDL0, Q5NDL1, Q5NDL2, Q5NDL3, Q5NDL9, Q6A1G3, Q6E279, Q6GQ23, Q6NQ51, Q6NTZ6, Q6P4F1, Q84TJ0, Q8AWB5, Q8BYW9, Q8GUM0, Q8H1E6, Q8LNP3, Q8LPF8, Q8R4G6, Q8VDX6, Q8W486, Q9M5Q1

Diamond homologs: G3MZR2, G5EDR5, G5EE06, O19058, O88819, P21217, P22083, P51993, P56433, P56434, P83088, Q08C60, Q11126, Q11127, Q11128, Q11130, Q11131, Q495W5, Q5F2L1, Q5F2N2, Q5F2N3, Q5F2N4, Q62994, Q659K9, Q659L0, Q659L1, Q68FV3, Q6A198, Q6A1G2, Q6A1G3, Q6NTZ6, Q6P4F1, Q70AG8, Q712G6, Q8AWB5, Q8AWC7, Q8BHC9, Q8HYJ3, Q8HYJ4, Q8HYJ5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	42
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1580 predictions. Top by Δscore:

Variant	Effect	Δscore
8:33372801:AGCC:A	acceptor_gain	1.0000
8:33372802:GCC:G	acceptor_gain	1.0000
8:33372803:CC:C	acceptor_gain	1.0000
8:33372803:CCC:C	acceptor_gain	1.0000
8:33372804:CC:C	acceptor_gain	1.0000
8:33372805:C:CC	acceptor_gain	1.0000
8:33372805:CT:C	acceptor_loss	1.0000
8:33372806:T:A	acceptor_loss	1.0000
8:33453507:TGAC:T	acceptor_gain	1.0000
8:33453508:GAC:G	acceptor_gain	1.0000
8:33453508:GACC:G	acceptor_loss	1.0000
8:33453509:ACC:A	acceptor_loss	1.0000
8:33453510:CCTA:C	acceptor_loss	1.0000
8:33453511:C:CA	acceptor_loss	1.0000
8:33453511:C:CC	acceptor_gain	1.0000
8:33372647:AGTG:A	donor_gain	0.9900
8:33372800:AAGCC:A	acceptor_gain	0.9900
8:33372809:A:T	acceptor_gain	0.9900
8:33388958:CTTAC:C	donor_loss	0.9900
8:33388960:TA:T	donor_loss	0.9900
8:33388961:A:AT	donor_loss	0.9900
8:33388962:CCTTT:C	donor_loss	0.9900
8:33389799:C:G	acceptor_loss	0.9900
8:33453506:ATGAC:A	acceptor_gain	0.9900
8:33453509:AC:A	acceptor_gain	0.9900
8:33453510:CC:C	acceptor_gain	0.9900
8:33455890:C:CT	acceptor_gain	0.9900
8:33455890:C:T	acceptor_gain	0.9900
8:33455891:A:T	acceptor_gain	0.9900
8:33455896:C:CT	acceptor_gain	0.9900

AlphaMissense

3164 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:33389333:T:A	E281V	0.998
8:33389474:A:G	L234P	0.998
8:33389664:C:G	A171P	0.998
8:33389270:A:T	V302D	0.997
8:33389347:A:C	F276L	0.997
8:33389347:A:T	F276L	0.997
8:33389348:A:G	F276S	0.997
8:33389349:A:G	F276L	0.997
8:33389438:C:G	C246S	0.997
8:33389439:A:G	C246R	0.997
8:33389439:A:T	C246S	0.997
8:33389000:C:G	C392S	0.996
8:33389001:A:T	C392S	0.996
8:33389495:C:A	R227M	0.996
8:33388999:G:C	C392W	0.995
8:33389000:C:T	C392Y	0.995
8:33389303:T:A	E291V	0.995
8:33389329:A:C	N282K	0.995
8:33389329:A:T	N282K	0.995
8:33389456:A:T	V240D	0.995
8:33389483:A:T	V231D	0.995
8:33389745:A:G	W144R	0.995
8:33389745:A:T	W144R	0.995
8:33389001:A:G	C392R	0.994
8:33389321:C:T	C285Y	0.994
8:33389451:A:G	S242P	0.994
8:33389656:G:C	F173L	0.994
8:33389656:G:T	F173L	0.994
8:33389658:A:G	F173L	0.994
8:33389742:C:G	A145P	0.994

dbSNP variants (sampled 300 via entrez): RS1000003281 (8:33390215 C>G), RS1000003973 (8:33345545 C>A,T), RS1000065148 (8:33374485 G>A), RS1000070945 (8:33390497 A>G), RS1000112788 (8:33364990 T>C), RS1000117046 (8:33338853 C>A), RS1000124702 (8:33474755 T>C), RS1000146570 (8:33345772 G>A), RS1000164776 (8:33422975 C>T), RS1000192653 (8:33316441 C>A,G,T), RS1000236588 (8:33411643 C>A), RS1000237756 (8:33418093 G>GAGCCCCC), RS1000241594 (8:33468111 G>A), RS1000252895 (8:33377262 G>A,T), RS1000286495 (8:33426182 G>A)

Disease associations

OMIM: gene MIM:616931 | 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
GCST004526_2	Subclinical trait of interstitial lung disease (basilar percentage of high attenuation areas on CT scan)	3.000000e-08
GCST006151_1	Memory dysfunction in frontotemporal lobe dementia	1.000000e-06
GCST006585_689	Blood protein levels	4.000000e-23
GCST009365_39	LDL cholesterol levels x short total sleep time interaction (2df test)	2.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0007627	airway imaging measurement
EFO:0001072	memory impairment
EFO:0004611	low density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2926 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases methylation, increases mutagenesis	2
Particulate Matter	increases expression, decreases expression, increases abundance	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
sodium arsenite	affects expression	1
butyraldehyde	decreases expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
jinfukang	increases expression, affects cotreatment	1
Fulvestrant	affects cotreatment, increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Cisplatin	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Melphalan	decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Valproic Acid	decreases expression	1
Copper Sulfate	decreases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL681259	Binding	Compound was tested for inhibitory activity against fucosyltransferase	Enzymatic synthesis of sialyl Lex and derivatives based on a recombinant fucosyltransferase — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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