B4GALNT3

Summary

B4GALNT3 (beta-1,4-N-acetyl-galactosaminyltransferase 3, HGNC:24137) is a protein-coding gene on chromosome 12p13.33, encoding Beta-1,4-N-acetylgalactosaminyltransferase 3 (Q6L9W6). Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N’-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans.

B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).

Source: NCBI Gene 283358 — RefSeq curated summary.

At a glance

• GWAS associations: 35
• Clinical variants (ClinVar): 219 total — 1 likely-pathogenic
• MANE Select transcript: NM_173593

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24137
Approved symbol	B4GALNT3
Name	beta-1,4-N-acetyl-galactosaminyltransferase 3
Location	12p13.33
Locus type	gene with protein product
Status	Approved
Aliases	B4GalNac-T3, FLJ16224, FLJ40362
Ensembl gene	ENSG00000139044
Ensembl biotype	protein_coding
OMIM	612220
Entrez	283358

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 retained_intron, 3 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000266383, ENST00000322843, ENST00000535402, ENST00000535680, ENST00000540836, ENST00000544638, ENST00000647602, ENST00000933169

RefSeq mRNA: 1 — MANE Select: NM_173593 NM_173593

CCDS: CCDS8504

Canonical transcript exons

ENST00000266383 — 20 exons

Exon	Start	End
ENSE00001225075	561343	563509
ENSE00001292644	548231	548297
ENSE00001299712	553194	553983
ENSE00001301925	550922	551031
ENSE00001308495	552467	552528
ENSE00001312565	549769	549912
ENSE00001325009	552063	552163
ENSE00001381041	459939	460545
ENSE00003477989	558016	558088
ENSE00003491420	545369	545469
ENSE00003517773	556547	556866
ENSE00003597097	548024	548102
ENSE00003599825	544882	544972
ENSE00003603091	544339	544434
ENSE00003633891	546646	546713
ENSE00003635138	557608	557761
ENSE00003641246	536218	536295
ENSE00003680869	559295	559421
ENSE00003690941	535166	535269
ENSE00003691534	558508	558661

Expression profiles

Bgee: expression breadth ubiquitous, 211 present calls, max score 93.14.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8537 / max 35.2463, expressed in 389 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
123300	0.8421	389
123304	0.0116	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	93.14	gold quality
left ventricle myocardium	UBERON:0006566	91.50	silver quality
skin of abdomen	UBERON:0001416	90.92	gold quality
cardiac muscle of right atrium	UBERON:0003379	90.87	silver quality
pancreatic ductal cell	CL:0002079	90.80	silver quality
skin of leg	UBERON:0001511	90.74	gold quality
rectum	UBERON:0001052	90.60	gold quality
right atrium auricular region	UBERON:0006631	90.24	gold quality
cardiac atrium	UBERON:0002081	90.05	gold quality
heart left ventricle	UBERON:0002084	89.31	gold quality
body of stomach	UBERON:0001161	89.15	gold quality
cardiac ventricle	UBERON:0002082	88.86	gold quality
upper arm skin	UBERON:0004263	88.74	silver quality
zone of skin	UBERON:0000014	88.59	gold quality
mucosa of transverse colon	UBERON:0004991	88.48	gold quality
stomach	UBERON:0000945	88.18	gold quality
gingival epithelium	UBERON:0001949	88.15	gold quality
heart	UBERON:0000948	87.69	gold quality
pituitary gland	UBERON:0000007	87.20	gold quality
lower esophagus mucosa	UBERON:0035834	87.20	gold quality
sural nerve	UBERON:0015488	86.94	gold quality
nasal cavity epithelium	UBERON:0005384	86.58	silver quality
mucosa of sigmoid colon	UBERON:0004993	86.39	gold quality
epithelial cell of pancreas	CL:0000083	86.33	silver quality
colonic mucosa	UBERON:0000317	86.33	gold quality
right adrenal gland cortex	UBERON:0035827	86.18	gold quality
kidney epithelium	UBERON:0004819	85.71	silver quality
descending thoracic aorta	UBERON:0002345	85.69	gold quality
gingiva	UBERON:0001828	85.38	gold quality
transverse colon	UBERON:0001157	84.91	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-119	yes	34.76
E-ANND-3	yes	7.94

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting B4GALNT3, 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-7110-3P	100.00	73.18	2486
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1255A	99.74	68.09	744
HSA-MIR-1255B-5P	99.74	68.16	741
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4743-3P	99.62	68.12	2095
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-4652-3P	99.33	70.02	2742
HSA-MIR-4667-3P	99.26	65.45	1608
HSA-MIR-324-3P	99.26	66.31	1034
HSA-MIR-6744-3P	99.22	64.41	972
HSA-MIR-4757-5P	99.12	64.51	981
HSA-MIR-6749-3P	99.00	65.73	1443
HSA-MIR-6804-3P	98.72	64.82	852
HSA-MIR-323A-5P	98.59	65.13	651
HSA-MIR-5088-3P	98.29	66.63	1310
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-500A-3P	97.60	67.48	595
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-6736-3P	96.98	65.22	1342
HSA-MIR-490-5P	96.75	65.81	661

Literature-anchored findings (GeneRIF, showing 8)

• supra-nuclear expression of beta4GalNAc-T3 is essential for the formation of LacdiNAc on the surface mucous cells and that LacdiNAc and beta4GalNAc-T3 are novel differentiation markers of surface mucous cells in the gastric mucosa. (PMID:16728562)
• up-regulation of beta4GalNAc-T3 may play a critical role in promoting tumor malignanc (PMID:17579116)
• betaGT3 and betaGT4, that are able to transfer GalNAc to GlcNAc in beta1,4-linkage display the necessary glycoprotein specificity in vivo. (PMID:18048353)
• Molecular basis for protein-specific transfer of N-acetylgalactosamine to N-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4. (PMID:22722937)
• Peptide-specific transfer of N-acetylgalactosamine to O-linked glycans by the glycosyltransferases beta1,4-N-acetylgalactosaminyl transferase 3 (beta4GalNAc-T3) and beta4GalNAc-T4. (PMID:22722940)
• Data suggest B4GALNT3 regulates cancer stemness and the invasive properties of colon cancer cells through modifying EGFR glycosylation and signaling. (PMID:25003232)
• Identify a new chimeric transcript generated by the fusion of WNK1 and B4GALNT3 genes, correlated with B4GALNT3 overexpression papillary thyroid carcinoma. (PMID:25803323)
• LacdiNAc synthase B4GALNT3 has a unique PA14 domain and suppresses N-glycan capping. (PMID:38844136)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	b4galnt3b	ENSDARG00000058939
danio_rerio	b4galnt3a	ENSDARG00000078749
mus_musculus	B4galnt3	ENSMUSG00000041372
rattus_norvegicus	B4galnt3	ENSRNOG00000010344

Paralogs (7): CHPF2 (ENSG00000033100), CHPF (ENSG00000123989), CHSY1 (ENSG00000131873), CSGALNACT1 (ENSG00000147408), CSGALNACT2 (ENSG00000169826), B4GALNT4 (ENSG00000182272), CHSY3 (ENSG00000198108)

Protein

Protein identifiers

Beta-1,4-N-acetylgalactosaminyltransferase 3 — Q6L9W6 (reviewed: Q6L9W6)

Alternative names: Beta-1,4-N-acetylgalactosaminyltransferase III, N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase 2

All UniProt accessions (2): E9PHD9, Q6L9W6

UniProt curated annotations — full annotation on UniProt →

Function. Transfers N-acetylgalactosamine (GalNAc) from UDP-GalNAc to N-acetylglucosamine-beta-benzyl with a beta-1,4-linkage to form N,N’-diacetyllactosediamine, GalNAc-beta-1,4-GlcNAc structures in N-linked glycans and probably O-linked glycans. Mediates the N,N’-diacetyllactosediamine formation on gastric mucosa.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. Highly expressed in testis, colon and stomach. Weakly expressed in other tissues.

Similarity. Belongs to the chondroitin N-acetylgalactosaminyltransferase family.

RefSeq proteins (1): NP_775864* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008428	Chond_GalNAc	Family
IPR011658	PA14_dom	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR037524	PA14/GLEYA	Domain
IPR051227	CS_glycosyltransferase	Family

Pfam: PF05679, PF07691

Enzyme classification (BRENDA):

• EC 2.4.1.244 — N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase (BRENDA: 3 organisms, 33 substrates, 1 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• an N-acetyl-beta-D-glucosaminyl derivative + UDP-N-acetyl-alpha-D-galactosamine = an N-acetyl-beta-D-galactosaminyl-(1->4)-N-acetyl-beta-D-glucosaminyl derivative + UDP + H(+) (RHEA:20493)

UniProt features (15 total): sequence variant 5, region of interest 3, topological domain 2, compositionally biased region 2, chain 1, transmembrane region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6L9W6-F1	71.56	0.48

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 41 (showing top): RODWELL_AGING_KIDNEY_NO_BLOOD_DN, DOUGLAS_BMI1_TARGETS_UP, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOCC_GOLGI_STACK, GOCC_GOLGI_CISTERNA, LINDGREN_BLADDER_CANCER_CLUSTER_1_DN, GOCC_GOLGI_CISTERNA_MEMBRANE, GOCC_ORGANELLE_SUBCOMPARTMENT, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, AGGTGCA_MIR500, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_UDP_GLYCOSYLTRANSFERASE_ACTIVITY, MEISSNER_NPC_HCP_WITH_H3K4ME3_AND_H3K27ME3, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (0):

GO Molecular Function (4): acetylgalactosaminyltransferase activity (GO:0008376), N-acetyl-beta-glucosaminyl-derivative 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (3): Golgi apparatus (GO:0005794), Golgi cisterna membrane (GO:0032580), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
UDP-glycosyltransferase activity	1
hexosyltransferase activity	1
acetylgalactosaminyltransferase activity	1
catalytic activity	1
transferase activity	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

698 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B4GALNT3	B3GNT3	Q9Y2A9	482
B4GALNT3	ST6GAL1	P15907	474
B4GALNT3	TEX52	A6NCN8	442
B4GALNT3	B3GALT5	Q9Y2C3	440
B4GALNT3	FUT1	P19526	402
B4GALNT3	B4GALT4	O60513	400
B4GALNT3	GCNT3	O95395	399
B4GALNT3	FUT6	P51993	396
B4GALNT3	WNK1	P54963	396
B4GALNT3	GALNT1	Q10472	395
B4GALNT3	CCDC77	Q9BR77	391
B4GALNT3	GALNT3	Q14435	380
B4GALNT3	CHST9	Q7L1S5	378
B4GALNT3	B4GALNT2	Q8NHY0	377
B4GALNT3	ST6GALNAC1	Q9NSC7	376

IntAct

22 interactions, top by confidence:

A	B	Type	Score
GAA	B3GAT3	psi-mi:“MI:0914”(association)	0.530
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
PILRA	PODXL	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LRRC55	TMEM120B	psi-mi:“MI:0914”(association)	0.350
ATP2A1	TMEM120B	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
PNMA8A	AP3B1	psi-mi:“MI:0914”(association)	0.350
SAAL1	QSOX1	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
GAA	ENTPD6	psi-mi:“MI:0914”(association)	0.350
B4GALNT3	PCBP3	psi-mi:“MI:0914”(association)	0.350
PILRA	NID2	psi-mi:“MI:0914”(association)	0.350
PRG2	QSOX1	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A11	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A14	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A4	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC39A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (25): B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), SMEK2 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), CDK5RAP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS), B4GALNT3 (Affinity Capture-MS)

ESM2 similar proteins: A0A088MLT8, A0JPH4, A2A8U2, A2ATD1, A6QLD2, B1AKI9, B1AL88, B3KU38, O14525, O35757, O75129, P0DPB3, P0DPB4, P12755, P17863, P27424, P49140, P55001, P55002, P85299, P97953, Q3V1G4, Q58CS8, Q5EGE1, Q5QQ56, Q5QQ57, Q60698, Q61137, Q68BL8, Q6DVA0, Q6L8S8, Q6L9W6, Q6S5C2, Q6ZWB6, Q80U62, Q80Z10, Q812A5, Q86Y38, Q8CCS2, Q8JG33

Diamond homologs: Q6L8S8, Q6L9W6, Q766D5, Q76KP1, Q6ZQ11

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 28 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.

GO biological processes:

GO term	Partners	Fold	FDR
intracellular zinc ion homeostasis	5	92.6×	4e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	161
Likely benign	20
Benign	6

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3256924	NM_173593.4(B4GALNT3):c.1271-1G>C	Likely pathogenic

SpliceAI

4600 predictions. Top by Δscore:

Variant	Effect	Δscore
12:460541:CCGGA:C	donor_gain	1.0000
12:460542:CGGA:C	donor_gain	1.0000
12:460543:GGA:G	donor_gain	1.0000
12:460543:GGAG:G	donor_gain	1.0000
12:460544:GA:G	donor_gain	1.0000
12:460544:GAG:G	donor_gain	1.0000
12:460545:AGTA:A	donor_loss	1.0000
12:460546:G:GG	donor_gain	1.0000
12:460546:GTAA:G	donor_loss	1.0000
12:460547:T:A	donor_loss	1.0000
12:535162:ACAG:A	acceptor_gain	1.0000
12:535164:AG:A	acceptor_gain	1.0000
12:535165:GG:G	acceptor_gain	1.0000
12:535269:GGT:G	donor_loss	1.0000
12:535270:G:GC	donor_loss	1.0000
12:536216:A:AG	acceptor_gain	1.0000
12:536217:G:GG	acceptor_gain	1.0000
12:536293:GAG:G	donor_gain	1.0000
12:544435:G:GG	donor_gain	1.0000
12:548103:G:GG	donor_gain	1.0000
12:548229:A:AG	acceptor_gain	1.0000
12:548230:G:GG	acceptor_gain	1.0000
12:548298:G:GG	donor_gain	1.0000
12:548302:G:GG	donor_gain	1.0000
12:549760:T:A	acceptor_gain	1.0000
12:549762:C:CA	acceptor_gain	1.0000
12:549764:CCCA:C	acceptor_loss	1.0000
12:549767:A:AG	acceptor_gain	1.0000
12:549767:A:C	acceptor_loss	1.0000
12:549767:AGAT:A	acceptor_gain	1.0000

AlphaMissense

6569 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:559378:T:C	F949L	0.999
12:559380:C:A	F949L	0.999
12:559380:C:G	F949L	0.999
12:559390:T:A	W953R	0.999
12:559390:T:C	W953R	0.999
12:559392:G:C	W953C	0.999
12:559392:G:T	W953C	0.999
12:559403:A:C	D957A	0.999
12:559403:A:T	D957V	0.999
12:544937:T:C	L168P	0.998
12:544940:G:C	R169P	0.998
12:545381:T:C	F184S	0.998
12:557625:T:A	W800R	0.998
12:557625:T:C	W800R	0.998
12:557627:G:C	W800C	0.998
12:557627:G:T	W800C	0.998
12:558044:T:C	F855L	0.998
12:558046:T:A	F855L	0.998
12:558046:T:G	F855L	0.998
12:558536:A:T	D879V	0.998
12:559400:A:T	E956V	0.998
12:559402:G:C	D957H	0.998
12:559405:T:A	W958R	0.998
12:559405:T:C	W958R	0.998
12:559407:G:C	W958C	0.998
12:559407:G:T	W958C	0.998
12:559412:T:C	L960P	0.998
12:544949:G:A	G172D	0.997
12:558045:T:G	F855C	0.997
12:558536:A:C	D879A	0.997

dbSNP variants (sampled 300 via entrez): RS1000002048 (12:521584 G>A,C,T), RS1000003491 (12:482146 G>A,T), RS1000004363 (12:549365 G>A,T), RS1000059183 (12:542146 G>A), RS1000062964 (12:505447 G>A), RS1000079778 (12:483512 C>T), RS1000092354 (12:505914 G>T), RS1000095683 (12:557929 A>G), RS1000140340 (12:544176 C>T), RS1000147225 (12:517877 T>C), RS1000156692 (12:468891 C>G), RS1000221910 (12:510401 G>T), RS1000229973 (12:526434 C>T), RS1000232327 (12:488077 G>A), RS1000279636 (12:500140 T>A,C)

Disease associations

OMIM: gene MIM:612220 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

35 associations (top):

Study	Trait	p-value
GCST002647_44	Height	7.000000e-10
GCST004067_127	Hip circumference adjusted for BMI	1.000000e-07
GCST004067_15	Hip circumference adjusted for BMI	3.000000e-08
GCST005951_70	Body mass index	1.000000e-11
GCST006016_23	Serum alkaline phosphatase levels	5.000000e-33
GCST006288_192	Heel bone mineral density	8.000000e-06
GCST006288_383	Heel bone mineral density	5.000000e-07
GCST006288_6	Heel bone mineral density	2.000000e-12
GCST006979_237	Heel bone mineral density	3.000000e-39
GCST007294_6	Body fat distribution (trunk fat ratio)	2.000000e-12
GCST007294_74	Body fat distribution (trunk fat ratio)	9.000000e-08
GCST007295_157	Body fat distribution (leg fat ratio)	1.000000e-07
GCST007295_47	Body fat distribution (leg fat ratio)	5.000000e-11
GCST008163_550	Height	4.000000e-08
GCST008839_345	Height	3.000000e-14
GCST008839_483	Height	5.000000e-16
GCST009652_19	Serum alkaline phosphatase levels	1.000000e-14
GCST009652_24	Serum alkaline phosphatase levels	3.000000e-08
GCST009708_1	Serum sclerostin levels	5.000000e-49
GCST010204_168	Low density lipoprotein cholesterol levels	2.000000e-14
GCST010243_155	Apolipoprotein B levels	1.000000e-08
GCST010245_33	LDL cholesterol levels	5.000000e-09
GCST010653_20	Thyroid stimulating hormone levels	2.000000e-11
GCST010653_70	Thyroid stimulating hormone levels	6.000000e-14
GCST011346_21	Total cholesterol levels	6.000000e-10
GCST011347_43	Low density lipoprotein cholesterol levels	4.000000e-13
GCST011353_14	Serum alkaline phosphatase levels	3.000000e-42
GCST012226_308	Waist circumference adjusted for body mass index	2.000000e-11
GCST012226_309	Waist circumference adjusted for body mass index	4.000000e-14
GCST012226_310	Waist circumference adjusted for body mass index	1.000000e-08

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0008039	BMI-adjusted hip circumference
EFO:0004340	body mass index
EFO:0004533	alkaline phosphatase measurement
EFO:0009270	heel bone mineral density
EFO:0004341	body fat distribution
EFO:0010606	sclerostin measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004615	apolipoprotein B measurement
EFO:0004574	total cholesterol measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Aflatoxin B1	decreases methylation	2
aristolochic acid I	decreases expression	1
dicrotophos	increases expression	1
bisphenol A	affects cotreatment, increases methylation	1
beta-lapachone	increases expression	1
benzo(e)pyrene	affects methylation	1
aflatoxin B2	decreases methylation	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
abrine	decreases expression	1
licochalcone B	increases expression	1
(+)-JQ1 compound	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment, increases methylation	1
Air Pollutants	increases abundance, increases expression	1
Diazinon	increases methylation	1
Estradiol	increases expression	1
Lead	increases expression	1
Methapyrilene	affects methylation	1
Triclosan	decreases expression	1
8-Bromo Cyclic Adenosine Monophosphate	increases expression	1
1-Methyl-4-phenylpyridinium	increases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

Cellosaurus cell lines

3 cell lines: 3 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_EI11	Hep-G2 SimpleCell O-GalNAc KI GalNAc-T3	Cancer cell line	Male
CVCL_SE50	HAP1 B4GALNT3 (-) 1	Cancer cell line	Male
CVCL_SE51	HAP1 B4GALNT3 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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