MGAT5B

Summary

MGAT5B (alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B, HGNC:24140) is a protein-coding gene on chromosome 17q25.2, encoding Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B (Q3V5L5). Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans.

Enables alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity and manganese ion binding activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 146664 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 141 total
• MANE Select transcript: NM_001199172

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24140
Approved symbol	MGAT5B
Name	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B
Location	17q25.2
Locus type	gene with protein product
Status	Approved
Aliases	GnT-IX, FLJ25132, GnT-VB
Ensembl gene	ENSG00000167889
Ensembl biotype	protein_coding
OMIM	612441
Entrez	146664

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000301618, ENST00000374998, ENST00000428789, ENST00000563153, ENST00000563627, ENST00000565043, ENST00000565675, ENST00000568598, ENST00000569840, ENST00000923692, ENST00000923693

RefSeq mRNA: 3 — MANE Select: NM_001199172 NM_001199172, NM_144677, NM_198955

CCDS: CCDS11751, CCDS45788, CCDS59299

Canonical transcript exons

ENST00000569840 — 18 exons

Exon	Start	End
ENSE00001363876	76926597	76926730
ENSE00001371560	76932645	76932775
ENSE00001380095	76924966	76925097
ENSE00002819306	76933292	76933297
ENSE00003466180	76937988	76938143
ENSE00003470490	76906018	76906187
ENSE00003487012	76872851	76872963
ENSE00003496028	76947830	76948086
ENSE00003521839	76904252	76904422
ENSE00003545265	76903303	76903376
ENSE00003555221	76905169	76905333
ENSE00003568016	76882151	76882298
ENSE00003584797	76940732	76940848
ENSE00003672042	76940402	76940548
ENSE00003674414	76902555	76902670
ENSE00003684153	76946376	76946450
ENSE00003901370	76868404	76869097
ENSE00003902991	76948640	76950393

Expression profiles

Bgee: expression breadth ubiquitous, 158 present calls, max score 95.30.

FANTOM5 (CAGE): breadth broad, TPM avg 2.5714 / max 75.7067, expressed in 680 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162911	2.2055	633
162910	0.2109	93
162913	0.0722	40
162912	0.0583	30
162909	0.0246	14

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	95.30	gold quality
Brodmann (1909) area 9	UBERON:0013540	93.27	gold quality
oocyte	CL:0000023	92.84	gold quality
anterior cingulate cortex	UBERON:0009835	92.78	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	92.69	gold quality
putamen	UBERON:0001874	92.68	gold quality
frontal cortex	UBERON:0001870	91.99	gold quality
frontal lobe	UBERON:0016525	91.99	gold quality
prefrontal cortex	UBERON:0000451	91.77	gold quality
neocortex	UBERON:0001950	91.68	gold quality
cerebellar vermis	UBERON:0004720	91.60	gold quality
caudate nucleus	UBERON:0001873	90.80	gold quality
upper arm skin	UBERON:0004263	90.29	gold quality
nucleus accumbens	UBERON:0001882	90.25	gold quality
amygdala	UBERON:0001876	90.13	gold quality
primary visual cortex	UBERON:0002436	89.83	gold quality
cerebral cortex	UBERON:0000956	89.70	gold quality
vena cava	UBERON:0004087	89.54	gold quality
superior frontal gyrus	UBERON:0002661	88.85	gold quality
occipital lobe	UBERON:0002021	88.63	gold quality
temporal lobe	UBERON:0001871	88.13	gold quality
forebrain	UBERON:0001890	87.05	gold quality
secondary oocyte	CL:0000655	87.04	gold quality
cortical plate	UBERON:0005343	86.70	gold quality
postcentral gyrus	UBERON:0002581	86.48	gold quality
parietal lobe	UBERON:0001872	86.46	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	86.24	gold quality
body of tongue	UBERON:0011876	85.78	gold quality
brain	UBERON:0000955	85.75	gold quality
entorhinal cortex	UBERON:0002728	85.20	silver quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	3.60

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CTCF, ETS1, FOXC1, NEUROD1

miRNA regulators (miRDB)

90 targeting MGAT5B, 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-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-548AR-3P	99.85	71.26	3889
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-498-5P	99.76	69.64	1807
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6745	99.74	65.33	1321
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4306	99.72	70.50	3630
HSA-MIR-6752-3P	99.72	66.71	1587
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-6766-5P	99.68	67.70	2325
HSA-MIR-3202	99.66	67.70	2737

Literature-anchored findings (GeneRIF, showing 10)

• GnT-IX is responsible for the synthesis of a unique oligosaccharide structure in the brain (PMID:12941944)
• N-linked beta(1,6) branching has a role in cell-cell adhesion, cellular motility and neoplasm invasiveness (PMID:14561752)
• following human GnT-IX and GnT-V transfection in COS cells, antibody specifically recognized GnT-IX, but not GnT-V, in the Golgi apparatus (PMID:16413118)
• These results demonstrate that GnT-VB expression can modulate the rate of neurite outgrowth by affecting beta1 integrin-ECM interaction. (PMID:16606368)
• GnT-Vb enzyme involved in the O-mannosyl glycosylation pathway, play an active role in modulating integrin and laminin-dependent adhesion and migration of human neuronal cells. (PMID:16857188)
• GnT-Vb-mediated glycosylation of RPTPbeta promotes galectin-1 binding and RPTPbeta levels of retention on the cell surface. (PMID:18838383)
• The activity of GnT-Vb was stimulated over 4-fold in the presence of 10 mM Mn(++), and pH optimum for GnT-Vb was 8.0. (PMID:19846580)
• ENPP3 is a regulator of N-acetylglucosaminyltransferase GnT-IX (GnT-Vb) (PMID:23960081)
• we found a strong correlation between serum GnT-V activity and HDL-C concentration in human subjects (PMID:27659420)
• Brain-specific glycosylation enzyme GnT-IX maintains levels of protein tyrosine phosphatase receptor PTPRZ, thereby mediating glioma growth. (PMID:37543361)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	MGAT5B	ENSDARG00000115505
mus_musculus	Mgat5b	ENSMUSG00000043857
rattus_norvegicus	Mgat5b	ENSRNOG00000024954
caenorhabditis_elegans	gly-2	WBGENE00001627

Paralogs (2): MGAT5 (ENSG00000152127), CCDC126 (ENSG00000169193)

Protein

Protein identifiers

Alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B — Q3V5L5 (reviewed: Q3V5L5)

Alternative names: Alpha-mannoside beta-1,6-N-acetylglucosaminyltransferase B, GlcNAc-T Vb, Mannoside acetylglucosaminyltransferase 5B, N-acetylglucosaminyl-transferase Vb, N-acetylglucosaminyltransferase IX

All UniProt accessions (3): Q3V5L5, H3BQ65, H3BR20

UniProt curated annotations — full annotation on UniProt →

Function. Glycosyltransferase that acts on alpha-linked mannose of N-glycans and O-mannosyl glycans. Catalyzes the transfer of N-acetylglucosamine (GlcNAc) to the beta 1-6 linkage of the mannose residue of GlcNAc-beta1,2-Man-alpha on both the alpha1,3- and alpha1,6-linked mannose arms in the core structure of N-glycan. Also acts on the GlcNAc-beta1,2-Man-alpha1-Ser/Thr moiety, forming a 2,6-branched structure in brain O-mannosyl glycan. Plays an active role in modulating integrin and laminin-dependent adhesion and migration of neuronal cells via its activity in the O-mannosyl glycan pathway.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Predominantly expressed in brain. Expressed in all areas of the adult and fetal brain. Also expressed at much lower levels in testis, spleen and thymus.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 18 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q3V5L5-1	1	yes
Q3V5L5-2	2
Q3V5L5-5	3

RefSeq proteins (3): NP_001186101, NP_653278, NP_945193 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026116	GT18_cat	Domain
IPR052105	MGAT5_Glycosyltransferase	Family

Pfam: PF15024

Catalyzed reactions (Rhea), 3 shown:

• N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = N(4)-{beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->4)]-alpha-D-Man-(1->3)-[beta-D-GlcNAc-(1->2)-[beta-D-GlcNAc-(1->6)]-alpha-D-Man-(1->6)]-beta-D-Man-(1->4)-beta-D-GlcNAc-(1->4)-beta-D-GlcNAc}-L-asparaginyl-[protein] + UDP + H(+) (RHEA:16921)
• 3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-seryl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-seryl-[protein] + UDP + H(+) (RHEA:56252)
• 3-O-[N-acetyl-beta-D-glucosaminyl-(1->2)-alpha-D-mannosyl]-L-threonyl-[protein] + UDP-N-acetyl-alpha-D-glucosamine = O(3)-{N-acetyl-beta-D-glucosaminyl-(1->2)-[N-acetyl-beta-D-glucosaminyl-(1->6)]-alpha-D-mannosyl}-L-threonyl-[protein] + UDP + H(+) (RHEA:56256)

UniProt features (17 total): disulfide bond 9, topological domain 2, splice variant 2, chain 1, sequence variant 1, transmembrane region 1, glycosylation site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q3V5L5-F1	82.58	0.62

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (9): 704–777, 711–764, 732–753, 788–791, 157–195, 168–208, 184–353, 387–644, 700–775

Glycosylation sites (1): 127

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-8932504	DAG1 core M2 glycosylations

MSigDB gene sets: 98 (showing top): AAGCAAT_MIR137, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, KEGG_N_GLYCAN_BIOSYNTHESIS, CACCAGC_MIR138, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, WANG_LMO4_TARGETS_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, CDPCR3HD_01, OCT1_B, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, NRSF_01, SENESE_HDAC3_TARGETS_DN, GOMF_HEXOSYLTRANSFERASE_ACTIVITY

GO Biological Process (4): protein N-linked glycosylation (GO:0006487), protein O-linked glycosylation (GO:0006493), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242)

GO Molecular Function (6): alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144), manganese ion binding (GO:0030145), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)

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

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
DAG1 glycosylations	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	2
acetylglucosaminyltransferase activity	1
catalytic activity, acting on a glycoprotein	1
transition metal ion binding	1
binding	1
catalytic activity	1
transferase activity	1
cation binding	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

1949 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MGAT5B	MGAT4B	Q9UQ53	928
MGAT5B	MGAT4A	Q9UM21	906
MGAT5B	POMGNT1	Q8WZA1	838
MGAT5B	MGAT3	Q09327	804
MGAT5B	GCNT2	Q8N0V5	667
MGAT5B	POMGNT2	Q8NAT1	623
MGAT5B	FUT8	Q9BYC5	564
MGAT5B	POMT2	Q9UKY4	556
MGAT5B	POMT1	Q9Y6A1	554
MGAT5B	MGAT2	Q10469	549
MGAT5B	MGAT4C	Q9UBM8	518
MGAT5B	B4GALT4	O60513	483
MGAT5B	MANEA	Q5SRI9	475
MGAT5B	INKA1	Q96EL1	472
MGAT5B	MAN1C1	Q9NR34	470

IntAct

20 interactions, top by confidence:

A	B	Type	Score
MGAT5B	Hoxa1	psi-mi:“MI:0915”(physical association)	0.570
Hoxa1	MGAT5B	psi-mi:“MI:0915”(physical association)	0.570
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
NTAN1	RIPK1	psi-mi:“MI:0914”(association)	0.500
MGAT5B	KRTAP26-1	psi-mi:“MI:0915”(physical association)	0.370
MGAT5B	VAC14	psi-mi:“MI:0915”(physical association)	0.370
MGAT5B	CFTR	psi-mi:“MI:0915”(physical association)	0.370
CFTR	MGAT5B	psi-mi:“MI:0915”(physical association)	0.370
MGAT5B	RBPMS	psi-mi:“MI:0915”(physical association)	0.370
ABHD18	DNAJA2	psi-mi:“MI:0914”(association)	0.350
PLEKHM3	ENDOD1	psi-mi:“MI:0914”(association)	0.350
C1orf54	QSOX1	psi-mi:“MI:0914”(association)	0.350
CD33	SPAG9	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
DKK3	CCN2	psi-mi:“MI:0914”(association)	0.350
MICB	LGALS8	psi-mi:“MI:0914”(association)	0.350
SAAL1	TMEM223	psi-mi:“MI:0914”(association)	0.350
HUNK	MGAT5B	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (135): MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid), MGAT5B (Two-hybrid)

ESM2 similar proteins: A0A0B5GR44, A0A0D3QS97, A1L314, A4IH88, A7MCS3, B9DFR3, E7F0Z8, F4I107, F4I839, O35298, O54728, O80731, P38566, P38567, P38568, P70683, Q03311, Q0P6H9, Q3TTY0, Q3UUQ7, Q3V5L5, Q4V398, Q5GF25, Q5RBP9, Q60963, Q66GM8, Q6DBP4, Q6E279, Q6NQ51, Q75T13, Q765A7, Q765H6, Q812F3, Q84JS1, Q84WF0, Q8BG22, Q8BXJ9, Q8N2E2, Q93ZR8, Q940J8

Diamond homologs: A2VE00, P97259, Q08834, Q09328, Q3V5L5, Q765H6, Q8BIS8, Q8R4G6, Q96EE4, Q9NDH7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
NEUROD1	“up-regulates quantity by expression”	MGAT5B	“transcriptional regulation”
CTCF	“up-regulates quantity by expression”	MGAT5B	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	121
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3971 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76872850:GGCTT:G	acceptor_gain	1.0000
17:76872960:GAAG:G	donor_gain	1.0000
17:76872961:AAG:A	donor_loss	1.0000
17:76872962:AGGTA:A	donor_loss	1.0000
17:76872963:GGTAC:G	donor_loss	1.0000
17:76872964:G:T	donor_loss	1.0000
17:76872965:T:G	donor_loss	1.0000
17:76882145:CCACA:C	acceptor_loss	1.0000
17:76882146:CACA:C	acceptor_loss	1.0000
17:76882148:CAG:C	acceptor_loss	1.0000
17:76882149:A:AG	acceptor_gain	1.0000
17:76882149:AGT:A	acceptor_gain	1.0000
17:76882149:AGTG:A	acceptor_loss	1.0000
17:76882150:G:GC	acceptor_gain	1.0000
17:76882150:GT:G	acceptor_gain	1.0000
17:76882150:GTG:G	acceptor_gain	1.0000
17:76882150:GTGA:G	acceptor_gain	1.0000
17:76882150:GTGAT:G	acceptor_gain	1.0000
17:76882250:GCA:G	donor_gain	1.0000
17:76882253:G:GG	donor_gain	1.0000
17:76882294:GACAG:G	donor_gain	1.0000
17:76882298:GGTGA:G	donor_loss	1.0000
17:76882299:GT:G	donor_loss	1.0000
17:76882300:T:A	donor_loss	1.0000
17:76902550:CTTA:C	acceptor_loss	1.0000
17:76902552:TAGG:T	acceptor_loss	1.0000
17:76902553:A:AG	acceptor_gain	1.0000
17:76902553:A:AT	acceptor_loss	1.0000
17:76902553:AG:A	acceptor_gain	1.0000
17:76902554:G:GT	acceptor_gain	1.0000

AlphaMissense

5211 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76904254:G:C	W174C	1.000
17:76904254:G:T	W174C	1.000
17:76906096:G:A	G312R	1.000
17:76906096:G:C	G312R	1.000
17:76906100:A:T	E313V	1.000
17:76906111:T:A	W317R	1.000
17:76906111:T:C	W317R	1.000
17:76926617:A:T	D393V	1.000
17:76926622:T:C	F395L	1.000
17:76926623:T:G	F395C	1.000
17:76926624:C:A	F395L	1.000
17:76926624:C:G	F395L	1.000
17:76940432:G:C	G539R	1.000
17:76940519:T:C	F568L	1.000
17:76940520:T:G	F568C	1.000
17:76940521:C:A	F568L	1.000
17:76940521:C:G	F568L	1.000
17:76904256:T:C	M175T	0.999
17:76904269:G:C	W179C	0.999
17:76904269:G:T	W179C	0.999
17:76904283:G:A	C184Y	0.999
17:76904330:T:G	Y200D	0.999
17:76905235:T:C	F253L	0.999
17:76905237:C:A	F253L	0.999
17:76905237:C:G	F253L	0.999
17:76906040:T:C	L293P	0.999
17:76906084:G:C	G308R	0.999
17:76906084:G:T	G308C	0.999
17:76906085:G:A	G308D	0.999
17:76906094:T:C	L311P	0.999

dbSNP variants (sampled 300 via entrez): RS1000026895 (17:76900149 G>A), RS1000078676 (17:76900392 T>C), RS1000173292 (17:76924424 G>A), RS1000179786 (17:76944739 C>A), RS1000179965 (17:76912024 C>A,T), RS1000186979 (17:76905403 G>C), RS1000278287 (17:76950140 A>C,T), RS1000344886 (17:76918031 A>G), RS1000383905 (17:76883212 C>T), RS1000441343 (17:76908528 A>G,T), RS1000456481 (17:76948652 C>T), RS1000463517 (17:76911648 G>A), RS1000474744 (17:76934957 T>C), RS1000500227 (17:76885213 G>A), RS1000510987 (17:76893234 T>C)

Disease associations

OMIM: gene MIM:612441 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST001559_1	Early cardiac repolarization	3.000000e-06
GCST001616_4	Cannabis use (initiation)	5.000000e-06
GCST002326_3	Pulmonary emphysema	3.000000e-08
GCST003208_11	Colorectal or endometrial cancer	9.000000e-06
GCST005559_10	Virologic severity in Herpes simplex virus type 2 infection	4.000000e-07
GCST010002_132	Refractive error	4.000000e-14
GCST010105_197	Nicotine dependence symptom count	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0004885	early cardiac repolarization measurement
EFO:0004230	endometrial neoplasm
EFO:0009010	HSV2 virologic severity 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

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases expression, affects methylation	2
beta-lapachone	decreases expression	1
arsenite	increases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
monomethylarsonous acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	affects methylation, decreases methylation, increases methylation	1
Diazinon	increases methylation	1
Succimer	decreases expression, affects cotreatment	1
Endosulfan	increases expression	1
Estradiol	affects cotreatment, increases expression	1
Phenylmercuric Acetate	decreases expression, affects cotreatment	1
Phthalic Acids	decreases methylation	1
Smoke	decreases expression	1
Valproic Acid	increases expression	1
Cyclosporine	decreases methylation	1
Acrylamide	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1
Magnetite Nanoparticles	decreases expression, affects cotreatment	1

Clinical trials (associated diseases)

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