B4GALT2

Summary

B4GALT2 (beta-1,4-galactosyltransferase 2, HGNC:925) is a protein-coding gene on chromosome 1p34.1, encoding Beta-1,4-galactosyltransferase 2 (O60909). Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids.

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene.

Source: NCBI Gene 8704 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 67 total
• MANE Select transcript: NM_003780

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:925
Approved symbol	B4GALT2
Name	beta-1,4-galactosyltransferase 2
Location	1p34.1
Locus type	gene with protein product
Status	Approved
Aliases	beta4Gal-T2
Ensembl gene	ENSG00000117411
Ensembl biotype	protein_coding
OMIM	604013
Entrez	8704

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 24 protein_coding, 2 nonsense_mediated_decay

ENST00000309519, ENST00000356836, ENST00000372324, ENST00000434555, ENST00000481924, ENST00000485678, ENST00000497866, ENST00000498543, ENST00000875760, ENST00000875761, ENST00000875762, ENST00000875763, ENST00000919106, ENST00000919107, ENST00000919108, ENST00000919109, ENST00000919110, ENST00000919111, ENST00000919112, ENST00000919113, ENST00000954160, ENST00000954161, ENST00000954162, ENST00000954163, ENST00000954164, ENST00000954165

RefSeq mRNA: 3 — MANE Select: NM_003780 NM_001005417, NM_003780, NM_030587

CCDS: CCDS506, CCDS55596

Canonical transcript exons

ENST00000372324 — 7 exons

Exon	Start	End
ENSE00001238913	43985517	43985621
ENSE00001457538	43979210	43979511
ENSE00001883690	43990298	43991168
ENSE00003464403	43984865	43985055
ENSE00003481237	43981689	43981924
ENSE00003682479	43985278	43985400
ENSE00003906871	43981109	43981473

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 96.45.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 27.2492 / max 241.6442, expressed in 1757 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
2577	25.2380	1698
2578	0.6250	354
2580	0.4973	270
2579	0.4440	262
2576	0.3385	182
2575	0.0770	15
2581	0.0296	9

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.45	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.58	gold quality
amygdala	UBERON:0001876	95.45	gold quality
cingulate cortex	UBERON:0003027	95.20	gold quality
anterior cingulate cortex	UBERON:0009835	95.15	gold quality
stromal cell of endometrium	CL:0002255	94.99	gold quality
prefrontal cortex	UBERON:0000451	94.69	gold quality
right frontal lobe	UBERON:0002810	94.65	gold quality
apex of heart	UBERON:0002098	93.71	gold quality
ganglionic eminence	UBERON:0004023	93.71	gold quality
hindlimb stylopod muscle	UBERON:0004252	93.70	gold quality
gastrocnemius	UBERON:0001388	93.31	gold quality
nucleus accumbens	UBERON:0001882	93.23	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	93.06	gold quality
lower esophagus	UBERON:0013473	93.00	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.00	gold quality
muscle of leg	UBERON:0001383	92.56	gold quality
frontal pole	UBERON:0002795	92.55	gold quality
ventricular zone	UBERON:0003053	92.40	gold quality
neocortex	UBERON:0001950	92.39	gold quality
body of pancreas	UBERON:0001150	92.23	gold quality
lower esophagus mucosa	UBERON:0035834	92.14	gold quality
spinal cord	UBERON:0002240	92.06	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.06	gold quality
putamen	UBERON:0001874	92.04	gold quality
frontal cortex	UBERON:0001870	91.99	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	91.88	gold quality
caudate nucleus	UBERON:0001873	91.68	gold quality
Brodmann (1909) area 9	UBERON:0013540	91.58	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.37	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

49 targeting B4GALT2, 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-4283	100.00	66.42	2097
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-185-3P	99.95	67.01	1743
HSA-LET-7C-3P	99.95	73.42	2862
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-3679-3P	99.64	69.88	1599
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-4649-3P	99.56	66.90	1783
HSA-MIR-4489	99.50	65.56	785
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-6871-3P	99.43	68.85	741
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-5787	99.22	67.86	2628
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-6868-5P	99.06	65.69	1284
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-4801	98.96	69.42	2096
HSA-MIR-6737-3P	98.95	68.56	1577
HSA-MIR-7157-3P	98.95	68.70	1582
HSA-MIR-455-3P	98.94	67.68	878
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-331-3P	98.76	64.91	793

Literature-anchored findings (GeneRIF, showing 7)

• Significance of core 2 GlcNAc-T in the pathogenesis of capillary occlusion in diabetic retinopathy. (PMID:15504978)
• Thus, these results suggest that among human beta4GalTs, beta4GalT-II is a major regulator of the synthesis of glycans involved in neuronal development. (PMID:15939404)
• beta4GalT-II increases HeLa cell apoptosis induced by cisplatin depending on its Golgi localization, which indicates that beta4GalT-II might contribute to the therapeutic efficiency of cisplatin for cervix cancer. (PMID:17470362)
• results suggested that beta1,4GalT II might serve as a target gene of p53 transcription factor during adriamycin-induced HeLa cell apoptosis, which elucidated a new mechanism of p53-mediated cell apoptosis (PMID:18211920)
• Data show that Beta4-Gal-transferase (beta4GalT) extends core 2 and forms the backbone structure for biologically important epitopes. (PMID:19524017)
• Study provides evidence that mutations in B3GNT2, B4GALT2, and ST6GALNAC2 underlie aberrant glycosylation, and contribute to the pathogenesis of molecular subsets of colon and other gastrointestinal malignancies. (PMID:27004849)
• In individuals under dual antiplatelet therapy, B4GALT2 c.909C>T is an independent genetic predictor of on-treatment platelet reactivity. (PMID:30020015)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	b4galt2	ENSDARG00000077994
mus_musculus	B4galt2	ENSMUSG00000028541
rattus_norvegicus	B4galt2	ENSRNOG00000019609
drosophila_melanogaster	beta4GalNAcTA	FBGN0027538
caenorhabditis_elegans	bre-4	WBGENE00000269

Paralogs (6): B4GALT7 (ENSG00000027847), B4GALT1 (ENSG00000086062), B4GALT6 (ENSG00000118276), B4GALT4 (ENSG00000121578), B4GALT5 (ENSG00000158470), B4GALT3 (ENSG00000158850)

Protein

Protein identifiers

Beta-1,4-galactosyltransferase 2 — O60909 (reviewed: O60909)

Alternative names: Beta-N-acetylglucosaminyl-glycolipid beta-1,4-galactosyltransferase, Beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase, Lactose synthase A protein, N-acetyllactosamine synthase, Nal synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 2, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 2

All UniProt accessions (5): A0A7I2V2X4, A0A7I2V436, A0A7I2V4G6, A0A7I2V6C7, O60909

UniProt curated annotations — full annotation on UniProt →

Function. Responsible for the synthesis of complex-type N-linked oligosaccharides in many glycoproteins as well as the carbohydrate moieties of glycolipids. Can produce lactose.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Weakly expressed in various tissues. Highest expression in prostate, testis, ovary, intestine, muscle, and in fetal brain.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 7 family.

Isoforms (3)

UniProt ID	Names	Canonical?
O60909-1	1	yes
O60909-2	2
O60909-3	3

RefSeq proteins (3): NP_001005417, NP_003771, NP_085076 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003859	Galactosyl_T	Family
IPR027791	Galactosyl_T_C	Domain
IPR027995	Galactosyl_T_N	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily

Pfam: PF02709, PF13733

Enzyme classification (BRENDA):

• EC 2.4.1.38 — beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase (BRENDA: 18 organisms, 205 substrates, 71 inhibitors, 132 Km, 51 kcat entries)
• EC 2.4.1.90 — N-acetyllactosamine synthase (BRENDA: 18 organisms, 143 substrates, 60 inhibitors, 85 Km, 5 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
N-ACETYLGLUCOSAMINE	0.0007–40	27
UDPGALACTOSE	0.0108–0.25	26
N-ACETYLGLUCOSAMINE	0.0039–40	20
4-METHYLUMBELLIFERYL-BETA-D-XYLOPYRANOSIDE	0.35–1.06	10
UDP-ALPHA-D-GALACTOSE	0.22–0.4	10
UDP-GALACTOSE	0.0105–0.31	5
UDP-GLUCOSE	0.031–0.28	5
D-GLUCOSE	1–21	4
4-METHYLUMBELLIFERYL BETA-D-XYLOPYRANOSIDE	0.16–0.27	2
4-NITROPHENYL BETA-D-XYLOPYRANOSIDE	0.85–1.27	2
ASIALO-AGALACTO-TRANSFERRIN	0.056–0.064	2
OVALBUMIN	0.054–0.27	2
UDP-GAL	0.0049–0.27	2

Catalyzed reactions (Rhea), 3 shown:

• D-glucose + UDP-alpha-D-galactose = lactose + UDP + H(+) (RHEA:12404)
• N-acetyl-D-glucosamine + UDP-alpha-D-galactose = beta-D-galactosyl-(1->4)-N-acetyl-D-glucosamine + UDP + H(+) (RHEA:17745)
• an N-acetyl-beta-D-glucosaminyl derivative + UDP-alpha-D-galactose = a beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+) (RHEA:22932)

UniProt features (29 total): binding site 9, sequence conflict 4, glycosylation site 3, splice variant 3, topological domain 2, disulfide bond 2, sequence variant 2, chain 1, transmembrane region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60909-F1	87.94	0.80

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 (9): 278; 280–283; 311–313; 311; 323; 150–154; 189–191; 217–218; 218

Disulfide bonds (2): 97–139, 211–230

Glycosylation sites (3): 66, 71, 357

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-975577	N-Glycan antennae elongation
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-597592	Post-translational protein modification
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
R-HSA-948021	Transport to the Golgi and subsequent modification
R-HSA-975576	N-glycan antennae elongation in the medial/trans-Golgi

MSigDB gene sets: 136 (showing top): GGGACCA_MIR133A_MIR133B, GOBP_MEMORY, RNGTGGGC_UNKNOWN, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, GOBP_COGNITION, GOBP_BEHAVIOR, GCM_GSPT1, GOBP_ASSOCIATIVE_LEARNING, KEGG_N_GLYCAN_BIOSYNTHESIS, GGGTGGRR_PAX4_03, USF_C, WEI_MYCN_TARGETS_WITH_E_BOX, GATA3_01, GOBP_CEREBELLAR_CORTEX_DEVELOPMENT

GO Biological Process (8): carbohydrate metabolic process (GO:0005975), memory (GO:0007613), locomotory behavior (GO:0007626), visual learning (GO:0008542), cerebellar Purkinje cell layer development (GO:0021680), obsolete protein glycosylation (GO:0006486), brain development (GO:0007420), obsolete glycosylation (GO:0070085)

GO Molecular Function (7): beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831), N-acetyllactosamine synthase activity (GO:0003945), lactose synthase activity (GO:0004461), galactosyltransferase activity (GO:0008378), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (6): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), Golgi cisterna membrane (GO:0032580), endomembrane system (GO:0012505), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Keratan sulfate/keratin metabolism	1
N-glycan antennae elongation in the medial/trans-Golgi	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Post-translational protein modification	1
Metabolism of proteins	1
Metabolism	1
Asparagine N-linked glycosylation	1
Transport to the Golgi and subsequent modification	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
UDP-galactosyltransferase activity	3
cellular anatomical structure	3
primary metabolic process	1
learning or memory	1
behavior	1
visual behavior	1
associative learning	1
cerebellar cortex development	1
anatomical structure development	1
central nervous system development	1
animal organ development	1
head development	1
hexosyltransferase activity	1
cation binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
Golgi cisterna	1
vacuole	1
plasma membrane	1

Protein interactions and networks

STRING

818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B4GALT2	B4GALNT2	Q8NHY0	879
B4GALT2	C1GALT1	Q9NS00	861
B4GALT2	CHSY1	Q86X52	790
B4GALT2	PRELP	P51888	763
B4GALT2	MGAT5	Q09328	655
B4GALT2	B3GNT2	Q9NY97	611
B4GALT2	FUT8	Q9BYC5	611
B4GALT2	ST6GAL2	Q96JF0	606
B4GALT2	ST3GAL3	Q11203	571
B4GALT2	ST6GAL1	P15907	543
B4GALT2	B3GALT1	Q9Y5Z6	515
B4GALT2	MGAT4B	Q9UQ53	501
B4GALT2	CCDC24	Q8N4L8	471
B4GALT2	B3GALT4	O96024	444
B4GALT2	B3GNT3	Q9Y2A9	443

IntAct

10 interactions, top by confidence:

A	B	Type	Score
ZNRD2	CCDC85C	psi-mi:“MI:0914”(association)	0.530
B4GALT2	ATP1A1	psi-mi:“MI:0915”(physical association)	0.400
B4GALT2	GPR35	psi-mi:“MI:0915”(physical association)	0.370
B4GALT2	PFDN6	psi-mi:“MI:0915”(physical association)	0.370
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
B4GALT2	NCOR1	psi-mi:“MI:0914”(association)	0.350
B4GALT2	LENG9	psi-mi:“MI:0914”(association)	0.350
FTL		psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (119): B4GALT2 (Two-hybrid), ATP1A1 (Proximity Label-MS), B4GALT2 (Two-hybrid), CCNH (Affinity Capture-MS), FAT4 (Affinity Capture-MS), FAM192A (Affinity Capture-MS), BCOR (Affinity Capture-MS), TCP1 (Affinity Capture-MS), DCHS1 (Affinity Capture-MS), HSPD1 (Affinity Capture-MS), PEX5 (Affinity Capture-MS), B4GALT2 (Affinity Capture-MS), FAT3 (Affinity Capture-MS), ZNF318 (Affinity Capture-MS), NCOR1 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S6M251, A8Y1P7, H0ZAB5, L7YAI7, O43286, O43505, O60513, O60909, O61394, O61397, O88419, P08037, P15291, P15535, P34548, P34678, P70419, Q09323, Q09363, Q14435, Q3YL68, Q5EA01, Q5EA87, Q5QQ54, Q5QQ55, Q5R4S2, Q66HH1, Q6P768, Q6WV17, Q6WV20, Q7K755, Q80WN7, Q80WN8, Q80WN9, Q8BWP8, Q8I136, Q8IA42, Q8MV48, Q8MVS5, Q91YY2

Diamond homologs: A0A1S6M251, A8Y1P7, O43286, O60512, O60513, O60909, O88419, P08037, P15291, P15535, P34548, Q09323, Q3YL68, Q5EA87, Q5NVN3, Q66HH1, Q6P768, Q80WN7, Q80WN8, Q80WN9, Q8R087, Q91YY2, Q9GUM2, Q9JJ04, Q9JMK0, Q9UBV7, Q9UBX8, Q9VBZ9, Q9WVK5, Q9Z2Y2, Q6ZQ11, Q86X52

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1096 predictions. Top by Δscore:

Variant	Effect	Δscore
1:43981687:A:AG	acceptor_gain	1.0000
1:43981687:AGT:A	acceptor_gain	1.0000
1:43981687:AGTG:A	acceptor_gain	1.0000
1:43981688:G:GC	acceptor_gain	1.0000
1:43981688:GT:G	acceptor_gain	1.0000
1:43981688:GTG:G	acceptor_gain	1.0000
1:43981688:GTGG:G	acceptor_gain	1.0000
1:43981905:GCGTC:G	donor_gain	1.0000
1:43981922:CAG:C	donor_loss	1.0000
1:43981923:AGGTG:A	donor_loss	1.0000
1:43981924:GG:G	donor_loss	1.0000
1:43981925:G:A	donor_loss	1.0000
1:43981940:TCC:T	donor_gain	1.0000
1:43984862:CA:C	acceptor_loss	1.0000
1:43984863:A:AC	acceptor_loss	1.0000
1:43984863:A:AG	acceptor_gain	1.0000
1:43984863:AGCAT:A	acceptor_gain	1.0000
1:43984864:G:A	acceptor_loss	1.0000
1:43984864:G:GG	acceptor_gain	1.0000
1:43984864:GC:G	acceptor_gain	1.0000
1:43984864:GCA:G	acceptor_gain	1.0000
1:43984864:GCAT:G	acceptor_gain	1.0000
1:43984864:GCATG:G	acceptor_gain	1.0000
1:43985405:G:GG	donor_gain	1.0000
1:43990294:CTAG:C	acceptor_loss	1.0000
1:43990295:TA:T	acceptor_loss	1.0000
1:43990296:A:AG	acceptor_gain	1.0000
1:43990296:A:G	acceptor_loss	1.0000
1:43990297:G:GA	acceptor_loss	1.0000
1:43990297:G:GG	acceptor_gain	1.0000

AlphaMissense

2424 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:43981812:C:A	A146E	1.000
1:43981830:G:C	R152T	1.000
1:43984880:T:C	F189L	1.000
1:43984881:T:C	F189S	1.000
1:43984881:T:G	F189C	1.000
1:43984882:C:A	F189L	1.000
1:43984882:C:G	F189L	1.000
1:43984885:C:A	N190K	1.000
1:43984885:C:G	N190K	1.000
1:43984896:T:C	L194P	1.000
1:43984903:C:A	N196K	1.000
1:43984903:C:G	N196K	1.000
1:43984958:A:C	S215R	1.000
1:43984960:C:A	S215R	1.000
1:43984960:C:G	S215R	1.000
1:43984961:G:C	D216H	1.000
1:43984962:A:C	D216A	1.000
1:43984962:A:G	D216G	1.000
1:43984962:A:T	D216V	1.000
1:43984963:T:A	D216E	1.000
1:43984963:T:G	D216E	1.000
1:43984968:A:G	D218G	1.000
1:43984968:A:T	D218V	1.000
1:43984969:C:A	D218E	1.000
1:43984969:C:G	D218E	1.000
1:43984971:T:C	L219P	1.000
1:43984974:T:A	V220D	1.000
1:43984977:C:A	P221H	1.000
1:43985016:C:A	P234H	1.000
1:43985028:C:A	A238D	1.000

dbSNP variants (sampled 300 via entrez): RS1000164461 (1:43984042 C>T), RS1000321309 (1:43977377 GCTCT>G,GCT), RS1000572528 (1:43977741 G>C), RS1000619779 (1:43983858 G>C), RS1000661808 (1:43989698 C>T), RS1000862510 (1:43982883 T>A), RS1001656927 (1:43978073 G>A), RS1001940026 (1:43990585 T>A), RS1001953319 (1:43984409 G>A), RS1002004431 (1:43984111 C>T), RS1002301592 (1:43982009 T>C), RS1002605768 (1:43979681 C>T), RS1002634122 (1:43979286 C>A), RS1002784824 (1:43979123 G>C,T), RS1002956689 (1:43985749 G>A)

Disease associations

OMIM: gene MIM:604013 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST004521_235	Autism spectrum disorder or schizophrenia	4.000000e-10
GCST006585_2843	Blood protein levels	7.000000e-09

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs1061781	Efficacy	3	clopidogrel

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs1061781	B4GALT2	3	3.00	1	clopidogrel

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, decreases expression, decreases methylation	4
sodium arsenite	decreases expression, increases abundance, increases expression	3
cobaltous chloride	decreases expression	2
perfluorooctane sulfonic acid	increases expression	2
Cadmium Chloride	decreases expression	2
aristolochic acid I	decreases expression	1
alpha-pinene	affects cotreatment, increases expression, increases abundance	1
beta-lapachone	increases expression	1
benzo(e)pyrene	decreases methylation	1
cadmium acetate	increases expression	1
aflatoxin B2	decreases methylation	1
methacrylaldehyde	affects cotreatment, increases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
K 7174	decreases expression	1
abrine	decreases 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
NSC 689534	affects binding, decreases expression	1
Resveratrol	decreases expression, affects cotreatment	1
Acetaminophen	increases expression	1
Acrolein	affects cotreatment, increases expression, increases abundance	1
Air Pollutants	increases expression, affects cotreatment, increases abundance	1
Arsenic	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Copper	affects binding, decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Lipopolysaccharides	affects response to substance, increases expression	1

Cellosaurus cell lines

2 cell lines: 1 transformed cell line, 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B2SL	Abcam HEK293T B4GALT2 KO	Transformed cell line	Female
CVCL_JA18	VACO 957	Cancer cell line	Female

Clinical trials (associated diseases)

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