B3GALNT1

Summary

B3GALNT1 (beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group), HGNC:918) is a protein-coding gene on chromosome 3q26.1, encoding UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 (O75752). Transfers N-acetylgalactosamine onto globotriaosylceramide.

This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all.

Source: NCBI Gene 8706 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 46 total
• Phenotypes (HPO): 2
• MANE Select transcript: NM_003781

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:918
Approved symbol	B3GALNT1
Name	beta-1,3-N-acetylgalactosaminyltransferase 1 (Globoside blood group)
Location	3q26.1
Locus type	gene with protein product
Status	Approved
Aliases	beta3Gal-T3, galT3, GLOB, B3GALANT1
Ensembl gene	ENSG00000169255
Ensembl biotype	protein_coding
OMIM	603094
Entrez	8706

Gene structure

Transcript identifiers

Ensembl transcripts: 141 — 136 protein_coding, 3 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000320474, ENST00000392779, ENST00000392781, ENST00000417187, ENST00000460353, ENST00000468268, ENST00000473142, ENST00000473285, ENST00000476999, ENST00000478383, ENST00000484127, ENST00000488170, ENST00000492353, ENST00000494173, ENST00000494818, ENST00000496295, ENST00000497487, ENST00000498216, ENST00000650695, ENST00000650733, ENST00000651117, ENST00000651147, ENST00000651178, ENST00000651254, ENST00000651282, ENST00000651292, ENST00000651305, ENST00000651379, ENST00000651380, ENST00000651422, ENST00000651430, ENST00000651460, ENST00000651509, ENST00000651686, ENST00000651689, ENST00000651791, ENST00000651801, ENST00000651916, ENST00000651953, ENST00000651972, ENST00000652032, ENST00000652059, ENST00000652111, ENST00000652134, ENST00000652143, ENST00000652309, ENST00000652377, ENST00000652593, ENST00000652596, ENST00000652669, ENST00000652730, ENST00000887645, ENST00000887646, ENST00000887647, ENST00000887648, ENST00000887649, ENST00000887650, ENST00000887651, ENST00000887652, ENST00000887653, ENST00000887654, ENST00000887655, ENST00000887656, ENST00000887657, ENST00000887658, ENST00000887659, ENST00000887660, ENST00000887661, ENST00000887662, ENST00000887663, ENST00000887664, ENST00000887665, ENST00000887666, ENST00000887667, ENST00000887668, ENST00000887669, ENST00000887670, ENST00000887671, ENST00000887672, ENST00000887673, ENST00000887674, ENST00000887675, ENST00000887676, ENST00000887677, ENST00000887678, ENST00000887679, ENST00000887680, ENST00000887681, ENST00000887682, ENST00000887683, ENST00000887684, ENST00000931626, ENST00000931627, ENST00000945776, ENST00000945777, ENST00000945778, ENST00000945779, ENST00000945780, ENST00000945781, ENST00000945782, ENST00000945783, ENST00000945784, ENST00000945785, ENST00000945786, ENST00000945787, ENST00000945788, ENST00000945789, ENST00000945790, ENST00000945791, ENST00000945792, ENST00000945793, ENST00000945794, ENST00000945795, ENST00000945796, ENST00000945797, ENST00000945798, ENST00000945799, ENST00000945800, ENST00000945801, ENST00000945802, ENST00000945803, ENST00000945804, ENST00000945805, ENST00000945806, ENST00000945807, ENST00000945808, ENST00000945809, ENST00000945810, ENST00000945811, ENST00000945812, ENST00000945813, ENST00000945814, ENST00000945815, ENST00000945816, ENST00000945817, ENST00000945818, ENST00000945819, ENST00000945820, ENST00000945821, ENST00000945822, ENST00000945823

RefSeq mRNA: 39 — MANE Select: NM_003781 NM_001038628, NM_001349130, NM_001349131, NM_001349132, NM_001349133, NM_001349134, NM_001349135, NM_001349136, NM_001349137, NM_001349138, NM_001349139, NM_001349140, NM_001349141, NM_001349142, NM_001349143, NM_001349144, NM_001349145, NM_001349146, NM_001349147, NM_001349148, NM_001349149, NM_001349150, NM_001349151, NM_001349152, NM_001349153, NM_001349154, NM_001349155, NM_001349156, NM_001349157, NM_001349158, NM_001349159, NM_001349160, NM_001349161, NM_001349162, NM_001349163, NM_003781, NM_033167, NM_033168, NM_033169

CCDS: CCDS3193

Canonical transcript exons

ENST00000320474 — 5 exons

Exon	Start	End
ENSE00001365132	161103427	161103517
ENSE00002319529	161083883	161086788
ENSE00003545193	161104319	161104406
ENSE00003682128	161101139	161101233
ENSE00003850494	161105235	161105349

Expression profiles

Bgee: expression breadth ubiquitous, 263 present calls, max score 94.60.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.5102 / max 101.6967, expressed in 1408 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
45382	4.9134	1239
45381	2.3316	1011
45380	0.6758	307
45384	0.3427	207
45383	0.1042	38
45379	0.0760	29
45378	0.0665	28

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	94.60	gold quality
secondary oocyte	CL:0000655	94.24	gold quality
oocyte	CL:0000023	92.97	gold quality
endothelial cell	CL:0000115	92.61	gold quality
ventricular zone	UBERON:0003053	92.61	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.07	gold quality
right atrium auricular region	UBERON:0006631	88.83	gold quality
cardiac atrium	UBERON:0002081	88.82	gold quality
myocardium	UBERON:0002349	88.72	gold quality
heart left ventricle	UBERON:0002084	88.70	gold quality
heart right ventricle	UBERON:0002080	88.67	gold quality
cardiac ventricle	UBERON:0002082	88.59	gold quality
ganglionic eminence	UBERON:0004023	88.31	gold quality
cardiac muscle of right atrium	UBERON:0003379	88.16	gold quality
nucleus accumbens	UBERON:0001882	88.14	gold quality
heart	UBERON:0000948	88.06	gold quality
Brodmann (1909) area 23	UBERON:0013554	88.03	gold quality
pigmented layer of retina	UBERON:0001782	87.24	gold quality
prefrontal cortex	UBERON:0000451	87.01	gold quality
left ventricle myocardium	UBERON:0006566	86.89	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.71	gold quality
germinal epithelium of ovary	UBERON:0001304	86.65	gold quality
hypothalamus	UBERON:0001898	86.61	gold quality
Brodmann (1909) area 9	UBERON:0013540	86.32	gold quality
right lung	UBERON:0002167	86.03	gold quality
caudate nucleus	UBERON:0001873	85.43	gold quality
calcaneal tendon	UBERON:0003701	85.40	gold quality
cerebellar cortex	UBERON:0002129	85.35	gold quality
cerebellar hemisphere	UBERON:0002245	85.35	gold quality
amygdala	UBERON:0001876	85.34	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-110499	yes	65.28
E-ANND-3	yes	7.05

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting B3GALNT1, 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-5692A	100.00	74.40	6850
HSA-MIR-3064-3P	100.00	70.09	1254
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489

Literature-anchored findings (GeneRIF, showing 8)

• identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene involved in globoside-deficient P(k) blood group phenotype (PMID:12023287)
• Eighteen SNPs in the MC1R gene and P genes were genotyped in 52 individuals by the direct sequencing method, and 4 SNPs (MC1R gene: R163Q and P gene: IVS5 + 1001, IVS13 + 113, and H615R) were selected on the basis of differences in frequencies. (PMID:18839200)
• The number of GLOB-null alleles was increased by 50%. (PMID:23927681)
• The N-acetylgalactose aminotransferase gene 539G>C mutation resulted in A2B phenotype generation, and individual serum contained the anti-A1 antibody. (PMID:24782133)
• TINAGL1 and B3GALNT1 are possible candidates for drug compounds that inhibit their gene expression (PMID:25521548)
• The Pk phenotype is resulted from 433 C>T mutation in the B3GALNT1 gene. (PMID:26037356)
• b1,3GalNAc-T1 uses different acceptors to form immunologically distinct glycosphingolipids. (PMID:26055721)
• Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. (PMID:29873420)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
danio_rerio	b3galt10.1	ENSDARG00000061432
danio_rerio	b3galt10.2	ENSDARG00000061496
danio_rerio	b3galt8	ENSDARG00000097795
danio_rerio		ENSDARG00000109569
mus_musculus	B3galnt1	ENSMUSG00000043300
rattus_norvegicus	B3galnt1	ENSRNOG00000012019
drosophila_melanogaster	brn	FBGN0000221
caenorhabditis_elegans		WBGENE00000270
caenorhabditis_elegans		WBGENE00007096
caenorhabditis_elegans		WBGENE00017653

Paralogs (15): B3GNT7 (ENSG00000156966), B3GALT2 (ENSG00000162630), B3GALNT2 (ENSG00000162885), B3GNT2 (ENSG00000170340), B3GALT1 (ENSG00000172318), B3GALT6 (ENSG00000176022), B3GNT4 (ENSG00000176383), B3GNT5 (ENSG00000176597), B3GNT8 (ENSG00000177191), B3GNT3 (ENSG00000179913), B3GALT5 (ENSG00000183778), B3GNT6 (ENSG00000198488), B3GALT9 (ENSG00000214654), B3GALT4 (ENSG00000235863), B3GNT9 (ENSG00000237172)

Protein

Protein identifiers

UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 1 — O75752 (reviewed: O75752)

Alternative names: Beta-1,3-galactosyltransferase 3, Beta-3-Gx-T3, Galactosylgalactosylglucosylceramide beta-D-acetyl-galactosaminyltransferase, Globoside synthase, UDP-N-acetylgalactosamine:globotriaosylceramide beta-1,3-N-acetylgalactosaminyltransferase

All UniProt accessions (11): A0A494C097, A0A494C0Y5, C9J0F8, C9J6I7, C9J8U7, C9JD16, C9JRV6, C9JXR0, E7EVF0, E7EVS2, O75752

UniProt curated annotations — full annotation on UniProt →

Function. Transfers N-acetylgalactosamine onto globotriaosylceramide. Plays a critical role in preimplantation stage embryonic development.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Higher expression in heart and brain, and to a lesser extent in lung, placenta, kidney and testis. Lower expression in liver, spleen and stomach. No expression in skeletal muscle.

Pathway. Protein modification; protein glycosylation.

Polymorphism. Genetic variation in B3GALNT1 is responsible for the blood group P1PK system [MIM:111400]. Different combinations or absence of the P1PK antigens define 5 different phenotypes: P1, P2, P1(k), P2(k), and P. The P1(k) and P2(k) phenotypes are rare and characterized by lack of the P antigen. B3GALNT1 activity is responsible for the globoside blood group system (GLOB), which is defined by the P antigen [MIM:615021].

Similarity. Belongs to the glycosyltransferase 31 family.

RefSeq proteins (39): NP_001033717, NP_001336059, NP_001336060, NP_001336061, NP_001336062, NP_001336063, NP_001336064, NP_001336065, NP_001336066, NP_001336067, NP_001336068, NP_001336069, NP_001336070, NP_001336071, NP_001336072, NP_001336073, NP_001336074, NP_001336075, NP_001336076, NP_001336077, NP_001336078, NP_001336079, NP_001336080, NP_001336081, NP_001336082, NP_001336083, NP_001336084, NP_001336085, NP_001336086, NP_001336087, NP_001336088, NP_001336089, NP_001336090, NP_001336091, NP_001336092, NP_003772, NP_149357, NP_149358, NP_149359 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002659	Glyco_trans_31	Family

Pfam: PF01762

Enzyme classification (BRENDA):

• EC 2.4.1.122 — N-acetylgalactosaminide beta-1,3-galactosyltransferase (BRENDA: 10 organisms, 63 substrates, 10 inhibitors, 10 Km, 0 kcat entries)
• EC 2.4.1.62 — ganglioside galactosyltransferase (BRENDA: 11 organisms, 28 substrates, 17 inhibitors, 13 Km, 3 kcat entries)
• EC 2.4.1.79 — globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase (BRENDA: 7 organisms, 22 substrates, 13 inhibitors, 8 Km, 0 kcat entries)
• EC 2.4.1.88 — globoside alpha-N-acetylgalactosaminyltransferase (BRENDA: 6 organisms, 21 substrates, 33 inhibitors, 5 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
N-ACETYL-D-GALACTOSAMINYL-(N-ACETYLNEURAMINYL)-D	0.01–0.18	5
UDP-GALACTOSE	0.012–2.47	4
UDP-GALACTOSE	0.02–0.63	3
D-GALACTOSYL-1,4-D-GALACTOSYL-1,4-D-GLUCOSYLCERA	0.0025–1.7	3
GLOBOSIDE	0.0016–0.5	3
ASIALO-MUCIN OF COWPER’S GLAND	0.0003–0.09	2
UDP-N-ACETYLGALACTOSAMINE	0.2–0.23	2
UDP-N-ACETYLGALACTOSAMINE	0.01–0.1	2
A-P-(N-ACETYL-D-GALACTOSAMINYL)T-S-S-A	0.55	1
ASIALO OVINE SUBMAXILLARY MUCIN	5	1
N-ACETYL-ALPHA-D-GALACTOSAMINYL-BENZYL	1.7	1
N-ACETYL-ALPHA-D-GALACTOSAMINYL-PHENYL	0.76	1
GALNACALPHA-FCHASE	1.68	1
GALNACBETA-FCHASE	3.18	1
UDP-GAL	1.11	1

Catalyzed reactions (Rhea), 1 shown:

• a globoside Gb3Cer (d18:1(4E)) + UDP-N-acetyl-alpha-D-galactosamine = a globoside Gb4Cer (d18:1(4E)) + UDP + H(+) (RHEA:22252)

UniProt features (12 total): glycosylation site 5, sequence variant 3, topological domain 2, chain 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75752-F1	90.53	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 (5): 72, 154, 198, 212, 326

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-428157	Sphingolipid metabolism
R-HSA-556833	Metabolism of lipids

MSigDB gene sets: 151 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, chr3q26, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, ROZANOV_MMP14_TARGETS_UP, KEGG_GLYCOSPHINGOLIPID_BIOSYNTHESIS_GLOBO_SERIES, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, SCHAEFFER_PROSTATE_DEVELOPMENT_6HR_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, TSENG_IRS1_TARGETS_DN, GOBP_LIPID_METABOLIC_PROCESS

GO Biological Process (6): protein O-linked glycosylation (GO:0006493), glycosphingolipid biosynthetic process (GO:0006688), oligosaccharide biosynthetic process (GO:0009312), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), carbohydrate derivative biosynthetic process (GO:1901137)

GO Molecular Function (5): N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity (GO:0008499), galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity (GO:0047273), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), hexosyltransferase activity (GO:0016758)

GO Cellular Component (3): Golgi membrane (GO:0000139), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Glycosphingolipid metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
primary metabolic process	1
biosynthetic process	1
carbohydrate derivative metabolic process	1
UDP-galactosyltransferase activity	1
beta-1,3-galactosyltransferase activity	1
acetylgalactosaminyltransferase activity	1
catalytic activity	1
transferase activity	1
glycosyltransferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

532 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B3GALNT1	A4GALT	Q9NPC4	969
B3GALNT1	WDR46	O15213	765
B3GALNT1	PAPOLG	Q9BWT3	745
B3GALNT1	GPT	P24298	714
B3GALNT1	ALB	P02768	665
B3GALNT1	RPS18	P25232	639
B3GALNT1	GBGT1	Q8N5D6	610
B3GALNT1	FUT2	Q10981	494
B3GALNT1	GPT2	Q8TD30	489
B3GALNT1	FUT1	P19526	471
B3GALNT1	B4GALT6	Q9UBX8	442
B3GALNT1	A3GALT2	U3KPV4	428
B3GALNT1	RPP38	P78345	423
B3GALNT1	PANX2	Q96RD6	419
B3GALNT1	GABBR2	O75899	380

IntAct

4 interactions, top by confidence:

A	B	Type	Score
B3GALNT1	DUSP14	psi-mi:“MI:0914”(association)	0.530
B3GALNT1	CDC6	psi-mi:“MI:0915”(physical association)	0.370
B3GALNT1	ALOX12B	psi-mi:“MI:0914”(association)	0.350

BioGRID (64): TGM1 (Affinity Capture-MS), CST6 (Affinity Capture-MS), RNASE7 (Affinity Capture-MS), ALOXE3 (Affinity Capture-MS), AMY1C (Affinity Capture-MS), ASPRV1 (Affinity Capture-MS), CSGALNACT2 (Affinity Capture-MS), S100A14 (Affinity Capture-MS), DUSP14 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), LOR (Affinity Capture-MS), ZG16B (Affinity Capture-MS), FAM3C (Affinity Capture-MS), LRRC15 (Affinity Capture-MS), NMU (Affinity Capture-MS)

ESM2 similar proteins: A0A2C9JXL4, O43825, O54904, O54905, O75752, O93403, P79948, P79949, Q08BL3, Q0VC84, Q24342, Q5F3G7, Q5HZL5, Q5R5Y3, Q5RAL7, Q5XJP0, Q5YB40, Q66H69, Q6AY39, Q6DE15, Q6GNL1, Q6P3P5, Q6QMG1, Q76EC5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7K237, Q7SYI5, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8K0J2, Q8NFL0, Q920V1, Q99NB2, Q9BYG0, Q9JI67

Diamond homologs: A8MXE2, O43825, O54904, O54905, O75752, O88178, O96024, Q1RLK6, Q5HZL5, Q5JCS9, Q5R5Y3, Q5RAL7, Q66H69, Q6AY39, Q6DE15, Q6P3P5, Q793U7, Q7JK24, Q7JK25, Q7JK26, Q7T3S5, Q864U6, Q864U8, Q8BGY6, Q8R3I9, Q920V1, Q95US5, Q99NB2, Q9BYG0, Q9C0J1, Q9JI67, Q9MYM7, Q9N293, Q9N294, Q9N295, Q9Y2A9, Q9Y2C3, Q9Y5Z6, Q9Z0F0, Q3USF0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	33
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

829 predictions. Top by Δscore:

Variant	Effect	Δscore
3:161103422:CTTA:C	donor_loss	1.0000
3:161103423:TTAC:T	donor_loss	1.0000
3:161103424:TA:T	donor_loss	1.0000
3:161103425:A:AC	donor_gain	1.0000
3:161103425:A:C	donor_loss	1.0000
3:161103426:C:CC	donor_gain	1.0000
3:161103513:AACTA:A	acceptor_gain	1.0000
3:161103514:ACTAC:A	acceptor_gain	1.0000
3:161103515:C:CC	acceptor_gain	1.0000
3:161103515:CTACT:C	acceptor_gain	1.0000
3:161103516:TA:T	acceptor_gain	1.0000
3:161103518:C:CC	acceptor_gain	1.0000
3:161103523:C:CT	acceptor_gain	1.0000
3:161104358:T:TA	donor_gain	1.0000
3:161086789:C:CC	acceptor_gain	0.9900
3:161103420:AACTT:A	donor_loss	0.9900
3:161103421:ACTT:A	donor_loss	0.9900
3:161103426:CCT:C	donor_gain	0.9900
3:161103511:TGAA:T	acceptor_gain	0.9900
3:161103512:GAACT:G	acceptor_loss	0.9900
3:161103513:AACT:A	acceptor_loss	0.9900
3:161103514:AC:A	acceptor_loss	0.9900
3:161103515:C:T	acceptor_loss	0.9900
3:161103515:CTAC:C	acceptor_loss	0.9900
3:161103516:T:A	acceptor_loss	0.9900
3:161103516:TACTG:T	acceptor_loss	0.9900
3:161103517:AC:A	acceptor_loss	0.9900
3:161103518:CTGAA:C	acceptor_loss	0.9900
3:161103519:T:G	acceptor_loss	0.9900
3:161103524:A:T	acceptor_gain	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000090105 (3:161092853 G>A,C), RS1000116350 (3:161104940 CGGCCTG>C,CGGCCTGGGCCTG), RS1000230768 (3:161104741 C>G), RS1000262033 (3:161104935 G>A,C), RS1000364625 (3:161086853 G>A,C), RS1000437978 (3:161099250 A>G), RS1000450196 (3:161105859 C>G,T), RS1000830378 (3:161094565 T>C,G), RS1000884133 (3:161095182 A>T), RS1000969912 (3:161088342 T>A,C), RS1001028656 (3:161100917 A>G,T), RS1001080577 (3:161100603 C>A), RS1001129057 (3:161088658 C>G,T), RS1001149033 (3:161103863 G>T), RS1001337587 (3:161104146 A>G)

Disease associations

OMIM: gene MIM:603094 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

2 total (2 of 2 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0010970	Blood group antigen abnormality

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001973_10	Menarche (age at onset)	2.000000e-06
GCST007565_165	Morning person	3.000000e-15
GCST007576_339	Chronotype	3.000000e-15
GCST010725_1	Malaria	3.000000e-09
GCST010725_57	Malaria	2.000000e-08
GCST010725_87	Malaria	3.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004703	age at menarche
EFO:0008328	chronotype measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, decreases methylation, affects expression	6
trichostatin A	affects cotreatment, decreases expression	3
Air Pollutants	decreases expression, affects cotreatment, increases abundance, increases expression	3
entinostat	decreases expression, affects cotreatment	2
Benzo(a)pyrene	increases methylation, decreases methylation, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Particulate Matter	increases abundance, increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
alpha-pinene	increases abundance, affects cotreatment, increases expression	1
beta-lapachone	increases expression	1
sodium arsenite	affects cotreatment, increases abundance, increases expression	1
tobacco tar	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression, increases expression	1
belinostat	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression, increases expression	1
2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	decreases expression, increases response to substance	1
perfluorobutanesulfonic acid	increases expression	1
Decitabine	affects expression	1
Vorinostat	decreases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Arsenic	affects cotreatment, increases abundance, increases expression	1
Cadmium	increases abundance, increases expression	1

Clinical trials (associated diseases)

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