B4GALT6

Summary

B4GALT6 (beta-1,4-galactosyltransferase 6, HGNC:929) is a protein-coding gene on chromosome 18q12.1, encoding Beta-1,4-galactosyltransferase 6 (Q9UBX8). Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer).

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes in human. 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. This gene produces multiple protein isoforms - some of which are predicted to lack the N-terminal hydrophobic signal sequence and transmembrane domain. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The canonical enzyme encoded by this gene is a lactosylceramide synthase important for glycolipid biosynthesis.

Source: NCBI Gene 9331 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 57 total
• MANE Select transcript: NM_004775

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:929
Approved symbol	B4GALT6
Name	beta-1,4-galactosyltransferase 6
Location	18q12.1
Locus type	gene with protein product
Status	Approved
Aliases	beta4GalT-VI
Ensembl gene	ENSG00000118276
Ensembl biotype	protein_coding
OMIM	604017
Entrez	9331

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron

ENST00000237019, ENST00000306851, ENST00000383131, ENST00000578114, ENST00000579372, ENST00000863577, ENST00000923021, ENST00000923022

RefSeq mRNA: 4 — MANE Select: NM_004775 NM_001330570, NM_001378109, NM_001378110, NM_004775

CCDS: CCDS11900, CCDS82245

Canonical transcript exons

ENST00000306851 — 9 exons

Exon	Start	End
ENSE00000796943	31626999	31627121
ENSE00000796945	31638644	31638760
ENSE00000796946	31645355	31645479
ENSE00000796947	31657976	31658089
ENSE00000796949	31684312	31684581
ENSE00002725459	31622246	31625761
ENSE00003496370	31630959	31631146
ENSE00003626139	31626283	31626384
ENSE00003658008	31666256	31666372

Expression profiles

Bgee: expression breadth ubiquitous, 254 present calls, max score 95.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.9478 / max 154.4034, expressed in 1483 samples.

FANTOM5 promoters (10 alternative TSS)

Promoter ID	TPM avg	Samples expressed
171589	4.0834	978
171586	2.3946	1074
171578	0.6715	340
171587	0.5211	287
171580	0.4847	271
171579	0.2386	139
171590	0.2350	101
171588	0.1411	57
171581	0.0944	46
171582	0.0833	20

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	95.94	gold quality
substantia nigra pars compacta	UBERON:0001965	94.35	gold quality
postcentral gyrus	UBERON:0002581	93.21	gold quality
substantia nigra pars reticulata	UBERON:0001966	92.28	gold quality
parietal lobe	UBERON:0001872	92.21	gold quality
superior frontal gyrus	UBERON:0002661	92.14	gold quality
Brodmann (1909) area 23	UBERON:0013554	91.65	gold quality
oocyte	CL:0000023	91.64	gold quality
entorhinal cortex	UBERON:0002728	90.85	gold quality
primary visual cortex	UBERON:0002436	90.33	gold quality
pons	UBERON:0000988	89.57	gold quality
middle temporal gyrus	UBERON:0002771	89.06	gold quality
occipital lobe	UBERON:0002021	88.65	gold quality
prefrontal cortex	UBERON:0000451	88.62	gold quality
secondary oocyte	CL:0000655	88.55	gold quality
cerebellar cortex	UBERON:0002129	87.87	gold quality
cerebellar hemisphere	UBERON:0002245	87.74	gold quality
cerebellum	UBERON:0002037	87.63	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	87.27	gold quality
endothelial cell	CL:0000115	87.22	gold quality
lateral globus pallidus	UBERON:0002476	86.38	gold quality
right hemisphere of cerebellum	UBERON:0014890	86.21	gold quality
cerebral cortex	UBERON:0000956	85.96	gold quality
Brodmann (1909) area 9	UBERON:0013540	85.86	gold quality
superior vestibular nucleus	UBERON:0007227	85.82	gold quality
right adrenal gland cortex	UBERON:0035827	85.66	gold quality
frontal cortex	UBERON:0001870	85.52	gold quality
Ammon’s horn	UBERON:0001954	85.47	gold quality
pigmented layer of retina	UBERON:0001782	85.33	gold quality
retina	UBERON:0000966	85.31	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-GEOD-98556	yes	429.81
E-ANND-3	yes	4.37
E-CURD-6	no	151.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

218 targeting B4GALT6, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-3924	100.00	72.09	2394
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548N	99.98	71.94	4170

Literature-anchored findings (GeneRIF, showing 1)

• genomic organization and mapping of beta 4GalT-VIb to human chromosome 18q12.1 (PMID:12180132)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	b4galt5	ENSDARG00000037815
mus_musculus	B4galt6	ENSMUSG00000056124
rattus_norvegicus	B4galt6	ENSRNOG00000015895

Paralogs (6): B4GALT7 (ENSG00000027847), B4GALT1 (ENSG00000086062), B4GALT2 (ENSG00000117411), B4GALT4 (ENSG00000121578), B4GALT5 (ENSG00000158470), B4GALT3 (ENSG00000158850)

Protein

Protein identifiers

Beta-1,4-galactosyltransferase 6 — Q9UBX8 (reviewed: Q9UBX8)

Alternative names: Glucosylceramide beta-1,4-galactosyltransferase, Lactosylceramide synthase, UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 6, UDP-Gal:glucosylceramide beta-1,4-galactosyltransferase, UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 6

All UniProt accessions (3): Q9UBX8, G3XA83, J3QQY9

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the synthesis of lactosylceramide (LacCer) via the transfer of galactose from UDP-galactose to glucosylceramide (GlcCer). LacCer is the starting point in the biosynthesis of all gangliosides (membrane-bound glycosphingolipids) which play pivotal roles in the CNS including neuronal maturation and axonal and myelin formation.

Subcellular location. Golgi apparatus. Golgi stack membrane.

Tissue specificity. High expression in brain and adrenal gland, lower in liver, lung, colon and peripheral white blood cells.

Activity regulation. Inhibited by EDTA.

Pathway. Protein modification; protein glycosylation. Sphingolipid metabolism.

Similarity. Belongs to the glycosyltransferase 7 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UBX8-1	1	yes
Q9UBX8-2	2

RefSeq proteins (4): NP_001317499, NP_001365038, NP_001365039, NP_004766* (*=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 2.4.1.274 — glucosylceramide beta-1,4-galactosyltransferase (BRENDA: 4 organisms, 8 substrates, 0 inhibitors, 6 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

2 substrates with measured Km, best-characterized 2. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
BETA-D-GLUCOSYL-(1<->1)-CERAMIDE	0.003–0.11	3
UDP-GALACTOSE	0.0005–0.52	3

Catalyzed reactions (Rhea), 1 shown:

• a beta-D-glucosyl-(1<->1’)-N-acylsphing-4-enine + UDP-alpha-D-galactose = a beta-D-Gal-(1->4)-beta-D-Glc-(1<->1)-Cer(d18:1(4E)) + UDP + H(+) (RHEA:31495)

UniProt features (27 total): binding site 10, glycosylation site 8, topological domain 2, disulfide bond 2, chain 1, transmembrane region 1, splice variant 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UBX8-F1	89.00	0.72

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 (10): 292–295; 323–324; 323; 334; 163–167; 202–204; 229–230; 230; 258; 290

Disulfide bonds (2): 108–152, 223–242

Glycosylation sites (8): 71, 75, 83, 84, 99, 122, 307, 367

Function

Pathways and Gene Ontology

Reactome pathways

17 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-975577	N-Glycan antennae elongation
R-HSA-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-5173105	O-linked glycosylation
R-HSA-556833	Metabolism of lipids
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: 314 (showing top): VERHAAK_AML_WITH_NPM1_MUTATED_DN, HORIUCHI_WTAP_TARGETS_DN, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_NEURON_MATURATION, GOBP_GLIAL_CELL_DEVELOPMENT, GOBP_NEUROGENESIS, AAAYRNCTG_UNKNOWN, MORF_RAD51L3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, GOBP_ANATOMICAL_STRUCTURE_MATURATION, chr18q12, GOBP_SPHINGOLIPID_METABOLIC_PROCESS

GO Biological Process (13): lactosylceramide biosynthetic process (GO:0001572), ganglioside biosynthetic process (GO:0001574), carbohydrate metabolic process (GO:0005975), glycosphingolipid biosynthetic process (GO:0006688), central nervous system neuron axonogenesis (GO:0021955), central nervous system myelination (GO:0022010), neuron maturation (GO:0042551), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), sphingolipid metabolic process (GO:0006665), obsolete ganglioside biosynthetic process via lactosylceramide (GO:0010706), obsolete glycosylation (GO:0070085), carbohydrate derivative biosynthetic process (GO:1901137)

GO Molecular Function (6): galactosyltransferase activity (GO:0008378), UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489), metal ion binding (GO:0046872), protein binding (GO:0005515), 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-13 pathways:

Category	Pathways
Post-translational protein modification	2
Metabolism	2
Keratan sulfate/keratin metabolism	1
O-linked glycosylation	1
N-glycan antennae elongation in the medial/trans-Golgi	1
Glycosphingolipid metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Metabolism of proteins	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
glycosphingolipid biosynthetic process	2
ceramide biosynthetic process	2
primary metabolic process	2
ganglioside metabolic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
axonogenesis	1
central nervous system neuron development	1
oligodendrocyte development	1
axon ensheathment in central nervous system	1
myelination	1
cell maturation	1
neuron development	1
lipid metabolic process	1
biosynthetic process	1
carbohydrate derivative metabolic process	1
hexosyltransferase activity	1
UDP-galactosyltransferase activity	1
cation binding	1
binding	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

812 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
B4GALT6	UGCG	Q16739	858
B4GALT6	ST3GAL5	Q9UNP4	766
B4GALT6	A4GALT	Q9NPC4	705
B4GALT6	B3GALT4	O96024	701
B4GALT6	KIAA1958	Q8N8K9	587
B4GALT6	PLEKHA8	Q96JA3	559
B4GALT6	ST8SIA5	O15466	551
B4GALT6	B3GNT5	Q9BYG0	536
B4GALT6	UGT8	Q16880	530
B4GALT6	ST3GAL2	Q16842	512
B4GALT6	ST8SIA1	Q92185	493
B4GALT6	SPTLC1	O15269	475
B4GALT6	GALC	P54803	456
B4GALT6	CERS2	Q96G23	446
B4GALT6	B3GALNT1	O75752	442
B4GALT6	PRDM11	Q9NQV5	442

IntAct

27 interactions, top by confidence:

A	B	Type	Score
MGAT4C	GXYLT2	psi-mi:“MI:0914”(association)	0.530
TAFA4	NRP1	psi-mi:“MI:0914”(association)	0.530
AVP	ATE1	psi-mi:“MI:0914”(association)	0.530
B4GALT6	MAN2A2	psi-mi:“MI:0915”(physical association)	0.500
B4GALT6	MAN2A2	psi-mi:“MI:0915”(physical association)	0.400
RTP1	B4GALT6	psi-mi:“MI:0915”(physical association)	0.400
AVP	B4GALT5	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
SCGB2A1	RAP1BL	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350
OPTC	TCAF2	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
C1QTNF7	AGRN	psi-mi:“MI:0914”(association)	0.350
EPO	B4GALT5	psi-mi:“MI:0914”(association)	0.350
LCN6	COCH	psi-mi:“MI:0914”(association)	0.350
NDUFA4	XRCC2	psi-mi:“MI:0914”(association)	0.350
PCSK1	HS6ST1	psi-mi:“MI:0914”(association)	0.350
EDDM3A	PLXNA2	psi-mi:“MI:0914”(association)	0.350
GALP	IDE	psi-mi:“MI:0914”(association)	0.350
CST8	ITIH2	psi-mi:“MI:0914”(association)	0.350
B4GALT6	B4GALT5	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), MAN2A2 (Affinity Capture-MS), B4GALT6 (Positive Genetic), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), B4GALT6 (Affinity Capture-MS), MAN2A2 (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

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1683 predictions. Top by Δscore:

Variant	Effect	Δscore
18:31627122:C:CC	acceptor_gain	1.0000
18:31630957:A:AC	donor_gain	1.0000
18:31630958:C:CC	donor_gain	1.0000
18:31631162:C:T	acceptor_gain	1.0000
18:31646250:C:G	acceptor_gain	1.0000
18:31666250:TCTTA:T	donor_loss	1.0000
18:31666251:CTTAC:C	donor_loss	1.0000
18:31666252:TTAC:T	donor_loss	1.0000
18:31666253:TACCT:T	donor_loss	1.0000
18:31666254:A:T	donor_loss	1.0000
18:31666255:C:CG	donor_loss	1.0000
18:31666369:TTGG:T	acceptor_gain	1.0000
18:31666369:TTGGC:T	acceptor_loss	1.0000
18:31666370:TGG:T	acceptor_gain	1.0000
18:31666371:GG:G	acceptor_gain	1.0000
18:31666371:GGCT:G	acceptor_loss	1.0000
18:31666373:C:CC	acceptor_gain	1.0000
18:31666374:T:G	acceptor_loss	1.0000
18:31666375:A:C	acceptor_gain	1.0000
18:31630951:CTACT:C	donor_loss	0.9900
18:31630952:TACTT:T	donor_loss	0.9900
18:31630953:ACT:A	donor_loss	0.9900
18:31630954:CT:C	donor_loss	0.9900
18:31630955:TT:T	donor_loss	0.9900
18:31630956:TACAT:T	donor_loss	0.9900
18:31630957:ACAT:A	donor_loss	0.9900
18:31630958:C:A	donor_loss	0.9900
18:31630958:CATAT:C	donor_gain	0.9900
18:31631105:C:CT	acceptor_gain	0.9900
18:31631105:C:T	acceptor_gain	0.9900

AlphaMissense

2541 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
18:31626384:T:A	R300S	1.000
18:31626384:T:G	R300S	1.000
18:31627014:T:A	D295V	1.000
18:31627014:T:C	D295G	1.000
18:31627014:T:G	D295A	1.000
18:31627015:C:G	D295H	1.000
18:31627016:A:C	D294E	1.000
18:31627016:A:T	D294E	1.000
18:31627017:T:A	D294V	1.000
18:31627017:T:C	D294G	1.000
18:31627017:T:G	D294A	1.000
18:31627018:C:A	D294Y	1.000
18:31627018:C:G	D294H	1.000
18:31627020:T:A	E293V	1.000
18:31627028:C:A	W290C	1.000
18:31627028:C:G	W290C	1.000
18:31627030:A:G	W290R	1.000
18:31627030:A:T	W290R	1.000
18:31627037:G:C	F287L	1.000
18:31627037:G:T	F287L	1.000
18:31627039:A:G	F287L	1.000
18:31627053:C:T	G282D	1.000
18:31627098:C:T	G267D	1.000
18:31630995:C:G	R247P	1.000
18:31631046:T:A	D230V	1.000
18:31631046:T:G	D230A	1.000
18:31631051:A:C	D228E	1.000
18:31631051:A:T	D228E	1.000
18:31631052:T:A	D228V	1.000
18:31631052:T:C	D228G	1.000

dbSNP variants (sampled 300 via entrez): RS1000005475 (18:31705647 C>T), RS1000017265 (18:31648014 C>T), RS1000022203 (18:31673763 T>A), RS1000023451 (18:31641386 TGA>T), RS1000031247 (18:31717684 G>A,T), RS1000038637 (18:31673426 G>C), RS1000049587 (18:31705321 G>A), RS1000059080 (18:31632288 G>T), RS1000123668 (18:31641608 T>C), RS1000123912 (18:31671736 T>C), RS1000131482 (18:31625271 A>G), RS1000173190 (18:31707010 G>A,C), RS1000187858 (18:31726635 A>G), RS1000213964 (18:31624469 A>G), RS1000236004 (18:31634898 T>G)

Disease associations

OMIM: gene MIM:604017 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST000406_5	Amyotrophic lateral sclerosis	1.000000e-06
GCST005236_2	Problematic alcohol use in trauma-exposed individuals	4.000000e-06
GCST006585_1586	Blood protein levels	8.000000e-71
GCST008164_4	Free thyroxine concentration	1.000000e-09
GCST010105_46	Nicotine dependence symptom count	1.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0008483	response to trauma exposure
EFO:0009458	alcohol use disorder measurement
EFO:0009262	nicotine dependence symptom count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Silicon Dioxide	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
butyraldehyde	decreases expression	1
ferrous chloride	decreases expression	1
bicalutamide	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
ICG 001	decreases expression	1
abrine	decreases expression	1
jinfukang	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Bortezomib	increases expression	1
Temozolomide	decreases expression	1
Acetaminophen	increases expression	1
Calcitriol	increases expression	1
Dimethyl Sulfoxide	increases expression	1
Hydrogen Peroxide	increases expression	1
Methyl Methanesulfonate	decreases expression	1
Smoke	increases expression	1
Valproic Acid	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin M1	decreases expression	1
Antirheumatic Agents	increases expression	1

Clinical trials (associated diseases)

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