FUT5

Summary

FUT5 (fucosyltransferase 5, HGNC:4016) is a protein-coding gene on chromosome 19p13.3, encoding 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 (Q11128). Catalyzes preferentially the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl-beta-D-glucosamine (GlcNAc) of an N-acetyllactosamine unit (type 2 chain) of an oligosaccharide, or a glycoprotein- and a glycolipid-linked N-acetyllactosamine unit via….

Enables 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity and 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity. Involved in ceramide metabolic process; oligosaccharide metabolic process; and protein glycosylation. Predicted to be located in Golgi membrane.

Source: NCBI Gene 2527 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 113 total
• Druggable target: yes
• MANE Select transcript: NM_002034

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4016
Approved symbol	FUT5
Name	fucosyltransferase 5
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	FUC-TV
Ensembl gene	ENSG00000130383
Ensembl biotype	protein_coding
OMIM	136835
Entrez	2527

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000252675, ENST00000588525

RefSeq mRNA: 1 — MANE Select: NM_002034 NM_002034

CCDS: CCDS12154

Canonical transcript exons

ENST00000588525 — 2 exons

Exon	Start	End
ENSE00002862104	5865826	5867737
ENSE00002879157	5870465	5870540

Expression profiles

Bgee: expression breadth broad, 29 present calls, max score 61.20.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lower esophagus mucosa	UBERON:0035834	61.20	gold quality
bone marrow	UBERON:0002371	50.23	gold quality
bone marrow cell	CL:0002092	44.63	gold quality
right lobe of liver	UBERON:0001114	41.73	silver quality
cortical plate	UBERON:0005343	40.49	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
tonsil	UBERON:0002372	36.43	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
calcaneal tendon	UBERON:0003701	35.24	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	34.17	silver quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
mucosa of stomach	UBERON:0001199	32.53	gold quality
lymph node	UBERON:0000029	32.35	gold quality
right uterine tube	UBERON:0001302	32.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
prefrontal cortex	UBERON:0000451	30.20	gold quality
adenohypophysis	UBERON:0002196	30.01	silver quality
skin of leg	UBERON:0001511	30.00	gold quality
urinary bladder	UBERON:0001255	29.91	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
fallopian tube	UBERON:0003889	29.70	gold quality
zone of skin	UBERON:0000014	28.84	gold quality
testis	UBERON:0000473	28.66	silver quality
islet of Langerhans	UBERON:0000006	28.62	gold quality
gall bladder	UBERON:0002110	28.52	gold quality
left testis	UBERON:0004533	28.15	silver quality
duodenum	UBERON:0002114	28.14	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.65

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

23 targeting FUT5, 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-196A-1-3P	99.99	72.15	2772
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-7157-5P	99.66	69.33	1829
HSA-MIR-497-3P	99.61	69.71	1990
HSA-MIR-4310	99.59	68.84	2527
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-4316	99.37	65.75	1360
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-4290	98.51	65.17	907
HSA-MIR-4726-3P	98.49	63.89	1385
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-4483	98.09	64.12	1642
HSA-MIR-3665	97.73	65.08	975
HSA-MIR-2467-5P	97.36	67.71	991
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-1293	96.16	64.69	916

Literature-anchored findings (GeneRIF, showing 7)

• Prostatic cancer cell transfected with this enzyme adhered to prostatic stromal cells in vitro with higher affinity than mock-transfected cancer cells. (PMID:14601054)
• FUT5 is a receptor of glycodelin-A and zona pellucida proteins, and glycodelin-A inhibits spermatozoa-zona binding by blocking the binding of sperm FUT5 to the zona pellucida (PMID:17148576)
• results suggested that PKR is the primary target for HSV-1 early RNA during induction of FUT3, FUT5, and FUT6 (PMID:19349624)
• down-regulation of FUT3 and FUT5 reduces the expression of sialyl-Lewis antigens and the adhesion capacities of gastric cancer cells and allows to identify the specific alpha1-3,4 fucosyltransferases implicated in the Lewis antigens synthesis (PMID:21978830)
• FUT5 was expressed on spermatid membranes and in serum, but not in seminal plasma, vaginal fluid and saliva. Expression was localized on head of spermatids. (PMID:22619806)
• data suggest that both FUT5 and FUT6 can promote the development of colorectal cancer (CRC) via the PI3K/Akt signalling pathway, which is regulated by miR-125a-3p. miR-125a-3p may serve as a predictive biomarker and a potential therapeutic target in CRC treatment. (PMID:28771224)
• Overexpressed N-fucosylation on cell surface promotes the migration and invasion of metastatic pancreatic cancer cells. Overexpressed N-fucosylation is driven by gene FUT3, 5, and 6 in metastatic pancreatic cancer cells. (PMID:30808544)

Cross-species orthologs

22 orthologs

Organism	Symbol	Gene ID
danio_rerio	fut9b.3	ENSDARG00000027699
danio_rerio	fut9d	ENSDARG00000028098
danio_rerio	fut7	ENSDARG00000044775
danio_rerio	fut9b.2	ENSDARG00000058299
danio_rerio	fut9b.1	ENSDARG00000067524
danio_rerio	fut9b.4	ENSDARG00000086603
danio_rerio		ENSDARG00000100247
danio_rerio	fut9b.5	ENSDARG00000102426
danio_rerio	fut9b.6	ENSDARG00000102554
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): FUT6 (ENSG00000156413), FUT3 (ENSG00000171124), FUT9 (ENSG00000172461), FUT10 (ENSG00000172728), FUT7 (ENSG00000180549), FUT4 (ENSG00000196371), FUT11 (ENSG00000196968)

Protein

Protein identifiers

4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT5 — Q11128 (reviewed: Q11128)

Alternative names: 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase FUT5, Fucosyltransferase 5, Fucosyltransferase V, Galactoside 3-L-fucosyltransferase

All UniProt accessions (1): Q11128

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes preferentially the transfer of L-fucose, from a guanosine diphosphate-beta-L-fucose, to the N-acetyl-beta-D-glucosamine (GlcNAc) of an N-acetyllactosamine unit (type 2 chain) of an oligosaccharide, or a glycoprotein- and a glycolipid-linked N-acetyllactosamine unit via an alpha (1,3) linkage and participates in the surface expression of VIM-2, Lewis X/SSEA-1 and sialyl Lewis X antigens. Preferentially transfers fucose to the GlcNAc of an internal N-acetyllactosamine unit of a poly-N-acetyllactosamine chain acceptor substrate. Also catalyzes to a lesser extend the transfer of L-fucose to the GlcNAc of a type 1 (beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl) or H-type 1 (alpha-L-Fuc-(1->2)-beta-D-Gal-(1->3)-D-GlcNAc) chain oligosaccharide via an alpha (1,4) linkage. Preferentially catalyzes sialylated type 2 oligosaccharide acceptors over neutral type 2 or H type 2 (alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-D-GlcNAc) oligosaccharide acceptors. Lactose-based structures are also acceptor substrates.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Liver, colon and testis and trace amounts in T-cells and brain.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 10 family.

RefSeq proteins (1): NP_002025* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001503	Glyco_trans_10	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), 12 shown:

• a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = a beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-beta-D-glucosaminyl derivative + GDP + H(+) (RHEA:14257)
• a beta-D-galactosyl-(1->3)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = a beta-D-galactosyl-(1->3)-[alpha-L-fucosyl-(1->4)]-N-acetyl-beta-D-glucosaminyl derivative + GDP + H(+) (RHEA:23628)
• a neolactoside nLc4Cer(d18:1(4E)) + GDP-beta-L-fucose = a neolactoside III(3)-alpha-Fuc-nLc4Cer(d18:1(4E)) + GDP + H(+) (RHEA:48332)
• a neolactoside nLc6Cer(d18:1(4E)) + GDP-beta-L-fucose = a neolactoside III(3)-alpha-Fuc-nLc6Cer(d18:1(4E)) + GDP + H(+) (RHEA:48336)
• a neolactoside VI(3)-alpha-NeuNAc-nLc6Cer + GDP-beta-L-fucose = a neolactoside VI(3)-alpha-NeuAc,III(3)-alphaFuc-nLc6Cer + GDP + H(+) (RHEA:48352)
• a neolactoside nLc6Cer + GDP-beta-L-fucose = beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-beta-D-glucosaminyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-glucosyl-(1<->1’)-ceramide + GDP + H(+) (RHEA:48364)
• a neolactoside nLc4Cer + GDP-beta-L-fucose = a neolactoside III(3)-alpha-Fuc-nLc4Cer + GDP + H(+) (RHEA:48376)
• an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP-beta-L-fucose = an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc-(1->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:52864)
• an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + GDP-beta-L-fucose = an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-beta-D-GlcNAc derivative + GDP + H(+) (RHEA:56076)
• beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + GDP-beta-L-fucose = beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-D-glucosamine + GDP + H(+) (RHEA:62824)
• N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosamine + GDP-beta-L-fucose = N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->4)-[alpha-L-fucosyl-(1->3)]-N-acetyl-beta-D-glucosamine + GDP + H(+) (RHEA:62836)
• alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-D-GlcNAc + GDP-beta-L-fucose = alpha-L-Fuc-(1->2)-beta-D-Gal-(1->4)-[alpha-L-Fuc-(1->3)]-D-GlcNAc + GDP + H(+) (RHEA:62900)

UniProt features (25 total): mutagenesis site 14, glycosylation site 4, topological domain 2, sequence variant 2, chain 1, transmembrane region 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q11128-F1	88.70	0.79

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 (4): 60, 105, 167, 198

Mutagenesis-validated functional residues (14):

Position	Phenotype
86	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fucosyltransferase activity with type 2 oligosaccharide acc
87	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fucosyltransferase activity; when associated with h-86 and
87	reverses the preferential fucosylation properties leading to production of 72% of sialyl-lewis x; when associated with r
92	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l-fucosyltransferase activity; when associated with h-86 and
101	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l- and 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltr
105	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l- and 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltr
110	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l- and 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltr
111	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l- and 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltr
118	does not affect 4-galactosyl-n-acetylglucosaminide 3-alpha-l- and 3-galactosyl-n-acetylglucosaminide 4-alpha-l-fucosyltr
124	decreases both alpha-(1,3)-fucosyltransferase and alpha-(1,4)-fucosyltransferase activity of 50%.
124	increases alpha-(1,3)-fucosyltransferase activity. loss of alpha-(1,4)-fucosyltransferase activity. loss of site-specifi
124	does not affect alpha-(1,3)-fucosyltransferase activity. loss of alpha-(1,4)-fucosyltransferase activity.
125	loss of site-specific fucosylation; when associated with r-124 and v-126. reverses the preferential fucosylation propert
126	loss of site-specific fucosylation; when associated with r-124 and e-125. reverses the preferential fucosylation propert

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9037629	Lewis blood group biosynthesis

MSigDB gene sets: 76 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, MODULE_99, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_LIPID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, GOBP_OLIGOSACCHARIDE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_CATABOLIC_PROCESS, GOBP_FUCOSE_METABOLIC_PROCESS

GO Biological Process (12): carbohydrate metabolic process (GO:0005975), protein N-linked glycosylation (GO:0006487), protein O-linked glycosylation (GO:0006493), ceramide metabolic process (GO:0006672), glycoprotein biosynthetic process (GO:0009101), oligosaccharide metabolic process (GO:0009311), oligosaccharide biosynthetic process (GO:0009312), L-fucose catabolic process (GO:0042355), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), obsolete fucosylation (GO:0036065)

GO Molecular Function (6): fucosyltransferase activity (GO:0008417), 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity (GO:0017060), 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase activity (GO:0017083), alpha-(1->3)-fucosyltransferase activity (GO:0046920), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), Golgi cisterna membrane (GO:0032580), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Blood group systems biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
primary metabolic process	2
glycoprotein biosynthetic process	2
fucosyltransferase activity	2
sphingolipid metabolic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
carbohydrate metabolic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
hexose catabolic process	1
L-fucose metabolic process	1
lipid metabolic process	1
hexosyltransferase activity	1
alpha-(1->3)-fucosyltransferase activity	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
Golgi cisterna	1
cellular anatomical structure	1

Protein interactions and networks

STRING

372 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
FUT5	FUT1	P19526	903
FUT5	FUT2	Q10981	863
FUT5	B4GALT1	P15291	721
FUT5	RPL30	P04645	660
FUT5	FUT8	Q9BYC5	647
FUT5	RFX3	P48380	645
FUT5	ST3GAL3	Q11203	569
FUT5	ORM2	P19652	545
FUT5	ORM1	P02763	542
FUT5	POFUT1	Q9H488	540
FUT5	ST3GAL4	Q11206	534
FUT5	RFX2	P48378	497
FUT5	MLLT1	Q03111	491
FUT5	RFX1	P22670	491
FUT5	ST6GAL1	P15907	460

IntAct

0 interactions, top by confidence:

ESM2 similar proteins: A0JND9, D3YTS9, O19058, O35795, O55026, O75173, P08648, P11117, P17405, P20611, P21217, P24638, P29376, P56433, Q04519, Q0P5F0, Q0V8G3, Q0VD19, Q11128, Q11131, Q32M88, Q4R5N9, Q4R942, Q5MY95, Q5NVF6, Q5RFQ8, Q62994, Q63148, Q6IY74, Q8BH73, Q8HYJ3, Q8HYJ4, Q8HYJ5, Q8HYJ7, Q8HZR3, Q8K1S1, Q8N135, Q923W9, Q9BZG2, Q9H3T2

Diamond homologs: G3MZR2, G5EDR5, O19058, O88819, P21217, P22083, P51993, P56433, P56434, P83088, Q11126, Q11127, Q11128, Q11130, Q11131, Q62994, Q659K9, Q659L0, Q659L1, Q712G6, Q8HYJ3, Q8HYJ4, Q8HYJ5, Q8HYJ6, Q8HYJ7, Q8HZR2, Q8HZR3, Q99JB3, Q9FX97, Q9GKU6, Q9JIG1, Q9LJK1, Q9VUL9, Q9Y231, G5EE06, G5EEE1, G5EFP5, O30511, Q495W5, Q70AG8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	13
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

89 predictions. Top by Δscore:

Variant	Effect	Δscore
19:5867735:TAG:T	acceptor_gain	0.9400
19:5867738:C:CC	acceptor_gain	0.9400
19:5867734:GTAG:G	acceptor_gain	0.9200
19:5867735:TAGCT:T	acceptor_loss	0.8900
19:5867736:AGC:A	acceptor_loss	0.8900
19:5867737:GCTGG:G	acceptor_loss	0.8900
19:5867738:CT:C	acceptor_loss	0.8900
19:5867739:T:G	acceptor_loss	0.8900
19:5867736:AG:A	acceptor_gain	0.8400
19:5867733:AGTAG:A	acceptor_gain	0.8000
19:5870500:AG:A	donor_gain	0.7800
19:5867740:G:C	acceptor_loss	0.7400
19:5870493:A:AC	donor_gain	0.7200
19:5870467:A:AC	donor_gain	0.6800
19:5870501:G:C	donor_gain	0.6800
19:5870500:AGC:A	donor_gain	0.6200
19:5870468:G:C	donor_gain	0.5700
19:5870460:TATA:T	donor_loss	0.5100
19:5870461:ATAC:A	donor_loss	0.5100
19:5870462:TA:T	donor_loss	0.5100
19:5870463:A:T	donor_loss	0.5100
19:5870464:C:CC	donor_loss	0.5100
19:5870459:ATAT:A	donor_loss	0.5000
19:5870465:C:G	donor_loss	0.5000
19:5870429:C:CT	donor_gain	0.4700
19:5870430:T:TT	donor_gain	0.4700
19:5867028:TCC:T	donor_gain	0.4600
19:5867734:G:C	acceptor_gain	0.4600
19:5867730:CAGAG:C	acceptor_gain	0.4500
19:5866962:TTG:T	donor_gain	0.4300

AlphaMissense

2440 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:5866958:G:C	F256L	0.994
19:5866958:G:T	F256L	0.994
19:5866960:A:G	F256L	0.994
19:5866817:G:C	F303L	0.989
19:5866817:G:T	F303L	0.989
19:5866819:A:G	F303L	0.989
19:5866959:A:G	F256S	0.988
19:5866917:G:A	T270I	0.987
19:5866944:T:A	E261V	0.985
19:5866721:C:A	W335C	0.982
19:5866721:C:G	W335C	0.982
19:5866723:A:G	W335R	0.981
19:5866723:A:T	W335R	0.981
19:5866799:G:C	F309L	0.981
19:5866799:G:T	F309L	0.981
19:5866801:A:G	F309L	0.981
19:5867104:A:G	W208R	0.981
19:5867104:A:T	W208R	0.981
19:5866815:A:T	I304N	0.980
19:5866875:G:T	P284H	0.976
19:5866906:A:G	W274R	0.975
19:5866906:A:T	W274R	0.975
19:5867120:C:A	K202N	0.975
19:5867120:C:G	K202N	0.975
19:5866943:C:A	E261D	0.972
19:5866943:C:G	E261D	0.972
19:5867106:G:T	A207D	0.972
19:5866940:G:C	N262K	0.970
19:5866940:G:T	N262K	0.970
19:5867199:G:A	S176F	0.968

dbSNP variants (sampled 300 via entrez): RS1000155249 (19:5868738 G>A), RS1000561991 (19:5870841 C>T), RS1000579951 (19:5870558 C>A,T), RS1000678743 (19:5872006 A>C), RS1000746825 (19:5869657 G>A), RS1000768703 (19:5869896 C>T), RS1001106017 (19:5865585 T>C), RS1001152047 (19:5866219 G>A), RS1001382652 (19:5871919 C>A,T), RS1001415150 (19:5871785 C>T), RS1001991919 (19:5870094 G>A,T), RS1002243211 (19:5869385 G>A), RS1002584962 (19:5867854 T>G), RS1003912008 (19:5866065 C>T), RS1004548083 (19:5866528 G>A,T)

Disease associations

OMIM: gene MIM:136835 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST004714_1	Heart rate variability traits (SDNN)	7.000000e-16
GCST005847_16	Heart rate response to recovery post exercise (20 sec)	7.000000e-09
GCST005848_6	Heart rate response to recovery post exercise (50 sec)	2.000000e-09
GCST005849_8	Heart rate response to recovery post exercise (40 sec)	9.000000e-10
GCST005850_14	Heart rate response to recovery post exercise (30 sec)	4.000000e-10
GCST006585_1782	Blood protein levels	2.000000e-91

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0008003	heart rate variability measurement
EFO:0009185	heart rate response to recovery post exercise

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3146 (SINGLE PROTEIN)

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

ChEMBL bioactivities

1 potent at pChembl≥5 of 7 total, top 1 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
5.01	Ki	9700	nM	CHEMBL1170899

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
benzo(e)pyrene	decreases methylation	1
Benzo(a)pyrene	decreases methylation, increases methylation	1
Diethylstilbestrol	increases expression	1
Estradiol	increases expression	1
Methapyrilene	decreases methylation	1
Plant Oils	decreases expression	1
Dronabinol	decreases expression	1
Tobacco Smoke Pollution	affects expression	1
Valproic Acid	increases methylation	1
Copper Sulfate	decreases expression	1
Genistein	increases expression	1

ChEMBL screening assays

9 unique, capped per target: 9 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3598444	Binding	Uncompetitive inhibition of FucT-5 (unknown origin) using GDP-fucose as donor substrate	Beyond substrate analogues: new inhibitor chemotypes for glycosyltransferases — Medchemcomm

Clinical trials (associated diseases)

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