GALNT16

Summary

GALNT16 (polypeptide N-acetylgalactosaminyltransferase 16, HGNC:23233) is a protein-coding gene on chromosome 14q24.1, encoding Polypeptide N-acetylgalactosaminyltransferase 16 (Q8N428). Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via serine and protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus.

Source: NCBI Gene 57452 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 94 total
• MANE Select transcript: NM_001168368

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23233
Approved symbol	GALNT16
Name	polypeptide N-acetylgalactosaminyltransferase 16
Location	14q24.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1130, GalNAc-T16
Ensembl gene	ENSG00000100626
Ensembl biotype	protein_coding
OMIM	615132
Entrez	57452

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 protein_coding_CDS_not_defined, 4 protein_coding, 1 nonsense_mediated_decay

ENST00000337827, ENST00000448469, ENST00000553471, ENST00000553669, ENST00000553740, ENST00000554317, ENST00000554858, ENST00000555920, ENST00000556677, ENST00000556829, ENST00000891547

RefSeq mRNA: 2 — MANE Select: NM_001168368 NM_001168368, NM_020692

CCDS: CCDS32107

Canonical transcript exons

ENST00000448469 — 15 exons

Exon	Start	End
ENSE00000658792	69339527	69339619
ENSE00000658793	69341681	69341764
ENSE00000658794	69347040	69347181
ENSE00001094371	69331464	69331551
ENSE00001094387	69325962	69326027
ENSE00001094396	69328450	69328571
ENSE00001188875	69347877	69348002
ENSE00001687189	69333497	69333600
ENSE00002282781	69352031	69354466
ENSE00002458995	69260158	69260467
ENSE00003569465	69333085	69333169
ENSE00003575960	69320711	69320868
ENSE00003658325	69325337	69325404
ENSE00003660172	69338651	69338777
ENSE00003668266	69324692	69324790

Expression profiles

Bgee: expression breadth ubiquitous, 208 present calls, max score 97.72.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.2093 / max 207.3804, expressed in 972 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
140333	5.7788	931
140329	0.5123	204
140331	0.3315	217
140332	0.2941	185
140330	0.1828	108
140334	0.1098	55

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endothelial cell	CL:0000115	97.72	gold quality
Brodmann (1909) area 23	UBERON:0013554	96.83	gold quality
middle temporal gyrus	UBERON:0002771	94.16	gold quality
apex of heart	UBERON:0002098	93.89	gold quality
heart left ventricle	UBERON:0002084	93.33	gold quality
cardiac ventricle	UBERON:0002082	93.24	gold quality
heart right ventricle	UBERON:0002080	91.73	gold quality
primary visual cortex	UBERON:0002436	90.89	gold quality
hypothalamus	UBERON:0001898	89.99	gold quality
ventricular zone	UBERON:0003053	89.95	gold quality
heart	UBERON:0000948	89.21	gold quality
left ventricle myocardium	UBERON:0006566	88.86	gold quality
right atrium auricular region	UBERON:0006631	88.05	gold quality
cardiac atrium	UBERON:0002081	87.89	gold quality
myocardium	UBERON:0002349	87.73	gold quality
putamen	UBERON:0001874	87.52	gold quality
nucleus accumbens	UBERON:0001882	87.51	gold quality
anterior cingulate cortex	UBERON:0009835	87.44	gold quality
Brodmann (1909) area 9	UBERON:0013540	87.37	gold quality
right frontal lobe	UBERON:0002810	87.36	gold quality
prefrontal cortex	UBERON:0000451	87.23	gold quality
cardiac muscle of right atrium	UBERON:0003379	87.09	silver quality
right hemisphere of cerebellum	UBERON:0014890	86.77	gold quality
occipital lobe	UBERON:0002021	86.68	gold quality
caudate nucleus	UBERON:0001873	86.67	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	86.63	gold quality
Ammon’s horn	UBERON:0001954	86.58	gold quality
neocortex	UBERON:0001950	86.57	gold quality
frontal cortex	UBERON:0001870	86.36	gold quality
cerebral cortex	UBERON:0000956	86.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.53

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

95 targeting GALNT16, 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-3064-3P	100.00	70.09	1254
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-181A-5P	99.99	72.96	2995
HSA-MIR-181B-5P	99.99	72.97	2996
HSA-MIR-181C-5P	99.99	72.95	2996
HSA-MIR-181D-5P	99.99	73.04	2997
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4715-3P	99.98	66.03	670
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-185-3P	99.95	67.01	1743
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-7845-5P	99.88	64.88	771
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-548AJ-5P	99.78	71.12	3085
HSA-MIR-548F-5P	99.78	71.02	3093
HSA-MIR-548G-5P	99.78	71.12	3085
HSA-MIR-548X-5P	99.78	71.12	3085
HSA-MIR-4677-5P	99.70	70.09	1940
HSA-MIR-7161-5P	99.68	68.92	1592
HSA-MIR-6762-3P	99.66	66.94	1188
HSA-MIR-3202	99.66	67.70	2737

Literature-anchored findings (GeneRIF, showing 2)

• rs2105269 and rs72625676 were associated with higher breast cancer (BC) risk in younger patients with age </=51. For rs1275678 polymorphism, there was a significantly decreased risk of BC among older patients. rs2105269 was associated with tumor size and lymph node metastasis. Study suggests that GALNT16 polymorphisms are associated with BC susceptibility in Chinese population. (PMID:31286696)
• Circ-GALNT16 restrains colorectal cancer progression by enhancing the SUMOylation of hnRNPK. (PMID:34452628)

Cross-species orthologs

16 orthologs

Organism	Symbol	Gene ID
danio_rerio	galnt16	ENSDARG00000053190
mus_musculus	Galnt16	ENSMUSG00000021130
rattus_norvegicus	Galnt16	ENSRNOG00000004589
drosophila_melanogaster	Pgant7	FBGN0030930
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant6	FBGN0035375
drosophila_melanogaster	CG7304	FBGN0036527
drosophila_melanogaster	CG7579	FBGN0036528
drosophila_melanogaster	Pgant8	FBGN0036529
drosophila_melanogaster	Pgant9	FBGN0050463
drosophila_melanogaster	CG31776	FBGN0051776
drosophila_melanogaster	Pgant4	FBGN0051956
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630
caenorhabditis_elegans		WBGENE00001632
caenorhabditis_elegans		WBGENE00001635

Paralogs (19): GALNTL5 (ENSG00000106648), GALNT7 (ENSG00000109586), GALNT18 (ENSG00000110328), GALNT3 (ENSG00000115339), GALNT12 (ENSG00000119514), GALNT8 (ENSG00000130035), GALNT15 (ENSG00000131386), GALNT5 (ENSG00000136542), GALNT6 (ENSG00000139629), GALNT1 (ENSG00000141429), GALNT2 (ENSG00000143641), GALNT13 (ENSG00000144278), GALNT14 (ENSG00000158089), GALNT10 (ENSG00000164574), GALNTL6 (ENSG00000174473), GALNT11 (ENSG00000178234), GALNT9 (ENSG00000182870), GALNT17 (ENSG00000185274), GALNT4 (ENSG00000257594)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 16 — Q8N428 (reviewed: Q8N428)

Alternative names: Polypeptide GalNAc transferase 16, Polypeptide GalNAc transferase-like protein 1, Polypeptide N-acetylgalactosaminyltransferase-like protein 1, Protein-UDP acetylgalactosaminyltransferase-like protein 1, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-like protein 1

All UniProt accessions (2): Q8N428, Q68VJ8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor.

Subcellular location. Golgi apparatus membrane.

Domain organisation. There are two conserved domains in the glycosyltransferase region: the N-terminal domain (domain A, also called GT1 motif), which is probably involved in manganese coordination and substrate binding and the C-terminal domain (domain B, also called Gal/GalNAc-T motif), which is probably involved in catalytic reaction and UDP-Gal binding. The ricin B-type lectin domain binds to GalNAc and contributes to the glycopeptide specificity.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 2 family. GalNAc-T subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N428-1	1	yes
Q8N428-2	2

RefSeq proteins (2): NP_001161840, NP_065743 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000772	Ricin_B_lectin	Domain
IPR001173	Glyco_trans_2-like	Domain
IPR029044	Nucleotide-diphossugar_trans	Homologous_superfamily
IPR035992	Ricin_B-like_lectins	Homologous_superfamily
IPR045885	GalNAc-T	Domain

Pfam: PF00535, PF00652

Catalyzed reactions (Rhea), 2 shown:

• L-seryl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-seryl-[protein] + UDP + H(+) (RHEA:23956)
• L-threonyl-[protein] + UDP-N-acetyl-alpha-D-galactosamine = a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + UDP + H(+) (RHEA:52424)

UniProt features (27 total): binding site 10, disulfide bond 5, region of interest 3, topological domain 2, sequence variant 2, chain 1, transmembrane region 1, splice variant 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N428-F1	89.46	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): 188; 211; 212; 213; 317; 345; 348; 351; 353; 163

Disulfide bonds (5): 113–340, 331–409, 441–460, 486–506, 530–543

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-913709	O-linked glycosylation of mucins

MSigDB gene sets: 81 (showing top): BENPORATH_ES_WITH_H3K27ME3, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, SENESE_HDAC1_AND_HDAC2_TARGETS_DN, chr14q24, AAACCAC_MIR140, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, WAGNER_APO2_SENSITIVITY, CERVERA_SDHB_TARGETS_1_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, GOMF_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY, GOMF_HEXOSYLTRANSFERASE_ACTIVITY, GOMF_GLYCOSYLTRANSFERASE_ACTIVITY, GOMF_POLYPEPTIDE_N_ACETYLGALACTOSAMINYLTRANSFERASE_ACTIVITY

GO Biological Process (5): protein O-linked glycosylation (GO:0006493), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), obsolete protein glycosylation (GO:0006486), obsolete protein O-linked glycosylation via serine (GO:0018242), obsolete protein O-linked glycosylation via threonine (GO:0018243)

GO Molecular Function (5): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), carbohydrate binding (GO:0030246), metal ion binding (GO:0046872), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

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
O-linked glycosylation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
binding	1
cation 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
cellular anatomical structure	1

Protein interactions and networks

STRING

614 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT16	CCDC102A	Q96A19	491
GALNT16	KIAA1671	Q9BY89	477
GALNT16	SARDH	Q9UL12	433
GALNT16	A0A087WYV9	A0A087WYV9	420
GALNT16	B3GNT8	Q7Z7M8	404
GALNT16	GCNT4	Q9P109	379
GALNT16	ZNF672	Q499Z4	379
GALNT16	DCLK1	O15075	378
GALNT16	GCNT1	Q02742	370
GALNT16	MAN1C1	Q9NR34	358
GALNT16	PLEKHD1	A6NEE1	351
GALNT16	SH2D4A	Q9H788	349
GALNT16	TMEM41A	Q96HV5	349
GALNT16	FAM156A	Q8NDB6	348
GALNT16	TTLL11	Q8NHH1	330
GALNT16	MAN1A2	O60476	330

IntAct

38 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
SLC1A1	AGPAT2	psi-mi:“MI:0914”(association)	0.640
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
REEP5	SCAMP1	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
PRPSAP2	CCNB1	psi-mi:“MI:0914”(association)	0.530
REEP5	PLSCR1	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
GALNT16	IPO8	psi-mi:“MI:0914”(association)	0.530
IMPDH1	BCAT2	psi-mi:“MI:0914”(association)	0.530
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
GALNT16	H2BC5	psi-mi:“MI:0915”(physical association)	0.400
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CCL3	KRBA1	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
SCPEP1	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
CSPG5	TCAF2	psi-mi:“MI:0914”(association)	0.350
GALNT16	GAPDHS	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
PARM1	ORC4	psi-mi:“MI:0914”(association)	0.350
MOGS	SRPX2	psi-mi:“MI:0914”(association)	0.350
PBXIP1	CEBPZOS	psi-mi:“MI:0914”(association)	0.350
PRKAR2B	AKAP10	psi-mi:“MI:0914”(association)	0.350
RIC3	QSOX1	psi-mi:“MI:0914”(association)	0.350
SCPEP1	CLGN	psi-mi:“MI:0914”(association)	0.350
TNFSF13	FADS1	psi-mi:“MI:0914”(association)	0.350
VSIG1	RIMOC1	psi-mi:“MI:0914”(association)	0.350
VSIG4	TMEM223	psi-mi:“MI:0914”(association)	0.350
NIPAL3	ILVBL	psi-mi:“MI:0914”(association)	0.350

BioGRID (40): GALNT16 (Affinity Capture-MS), GALNT16 (Affinity Capture-MS), GALNT16 (Affinity Capture-MS), GALNT16 (Affinity Capture-MS), ARHGAP17 (Affinity Capture-MS), IPO8 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), GALNT16 (Proximity Label-MS), IPO8 (Affinity Capture-MS), GALNT16 (Affinity Capture-MS), RMND1 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), GALNT16 (Affinity Capture-MS)

ESM2 similar proteins: A2AJ15, B2GUY0, O02773, O18498, O60476, P32906, P33908, P39098, P45700, P45701, P53624, Q08463, Q10471, Q18788, Q1L8D2, Q2HXL6, Q49A17, Q5EA41, Q5GF25, Q5RFJ6, Q6GQB9, Q6NXH2, Q6P9S7, Q6PB93, Q6WV16, Q80VA0, Q86SF2, Q86SR1, Q8BJT9, Q8H116, Q8J0Q0, Q8K1B9, Q8N428, Q925R7, Q925U4, Q92611, Q93Y37, Q9BV94, Q9BZQ6, Q9C512

Diamond homologs: A8Y236, H0ZAB5, O08832, O08912, O45293, O45947, O61394, O61397, O88422, P34678, P70419, Q07537, Q10471, Q10472, Q10473, Q14435, Q29121, Q49A17, Q5EA41, Q5RFJ6, Q6DJR8, Q6IS24, Q6P6V1, Q6P9A2, Q6P9S7, Q6PB93, Q6UE39, Q6WV16, Q6WV17, Q6WV19, Q6WV20, Q7K755, Q7TT15, Q7Z4T8, Q7Z7M9, Q80VA0, Q86SF2, Q86SR1, Q8BGT9, Q8BVG5

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 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
zinc ion transmembrane transport	6	75.2×	5e-08
intracellular zinc ion homeostasis	6	51.6×	3e-07

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	81
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2539 predictions. Top by Δscore:

Variant	Effect	Δscore
14:69260466:TT:T	donor_gain	1.0000
14:69260468:G:GG	donor_gain	1.0000
14:69320864:TACAG:T	donor_loss	1.0000
14:69320865:ACAGG:A	donor_loss	1.0000
14:69320866:CAGGT:C	donor_loss	1.0000
14:69320867:AGGTA:A	donor_loss	1.0000
14:69320868:GGTAC:G	donor_loss	1.0000
14:69320869:GTACG:G	donor_loss	1.0000
14:69320870:T:A	donor_loss	1.0000
14:69324689:CAG:C	acceptor_loss	1.0000
14:69324690:A:AG	acceptor_gain	1.0000
14:69324690:A:AT	acceptor_loss	1.0000
14:69324690:AGCT:A	acceptor_gain	1.0000
14:69324691:G:GG	acceptor_gain	1.0000
14:69324691:GC:G	acceptor_gain	1.0000
14:69324691:GCT:G	acceptor_gain	1.0000
14:69324691:GCTG:G	acceptor_gain	1.0000
14:69324691:GCTGC:G	acceptor_gain	1.0000
14:69324787:AGAG:A	donor_gain	1.0000
14:69324787:AGAGG:A	donor_loss	1.0000
14:69324788:GAG:G	donor_gain	1.0000
14:69324788:GAGG:G	donor_gain	1.0000
14:69324789:AG:A	donor_gain	1.0000
14:69324789:AGGT:A	donor_loss	1.0000
14:69324790:GG:G	donor_gain	1.0000
14:69324791:G:C	donor_loss	1.0000
14:69324791:G:GG	donor_gain	1.0000
14:69325324:A:AG	acceptor_gain	1.0000
14:69325324:ACT:A	acceptor_gain	1.0000
14:69325325:C:G	acceptor_gain	1.0000

AlphaMissense

3653 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:69325389:G:C	D163H	1.000
14:69325390:A:T	D163V	1.000
14:69326027:G:A	G190R	1.000
14:69326027:G:C	G190R	1.000
14:69328450:G:A	G190E	1.000
14:69328513:A:T	D211V	1.000
14:69331482:A:C	S237R	1.000
14:69331484:T:A	S237R	1.000
14:69331484:T:G	S237R	1.000
14:69331494:G:C	D241H	1.000
14:69331495:A:T	D241V	1.000
14:69331549:G:A	G259E	1.000
14:69333087:T:C	F261L	1.000
14:69333088:T:C	F261S	1.000
14:69333089:C:A	F261L	1.000
14:69333089:C:G	F261L	1.000
14:69333093:T:A	W263R	1.000
14:69333093:T:C	W263R	1.000
14:69333095:G:C	W263C	1.000
14:69333095:G:T	W263C	1.000
14:69333100:T:C	L265P	1.000
14:69333105:T:A	F267I	1.000
14:69333105:T:C	F267L	1.000
14:69333106:T:C	F267S	1.000
14:69333106:T:G	F267C	1.000
14:69333107:C:A	F267L	1.000
14:69333107:C:G	F267L	1.000
14:69333111:T:A	W269R	1.000
14:69333111:T:C	W269R	1.000
14:69333112:G:C	W269S	1.000

dbSNP variants (sampled 300 via entrez): RS1000002856 (14:69381483 T>C), RS1000060803 (14:69318260 A>G), RS1000078546 (14:69311777 A>G), RS1000087175 (14:69352596 T>C), RS1000091696 (14:69270153 C>G), RS1000113725 (14:69375379 C>A), RS1000118877 (14:69333949 G>A,C), RS1000157302 (14:69294652 C>A,G), RS1000175250 (14:69267169 A>G), RS1000190014 (14:69355317 G>A), RS1000250551 (14:69378962 G>A), RS1000271073 (14:69335700 G>T), RS1000277862 (14:69366435 C>T), RS1000279810 (14:69309555 T>C), RS1000287985 (14:69267499 A>G,T)

Disease associations

OMIM: gene MIM:615132 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST002783_370	Body mass index	5.000000e-06
GCST002783_503	Body mass index	7.000000e-06
GCST005232_25	Neuroticism	4.000000e-08
GCST006585_1422	Blood protein levels	4.000000e-15
GCST008930_4	Phosphatidylethanolamine-ether levels	2.000000e-08
GCST010988_539	Adult body size	1.000000e-10

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0007660	neuroticism measurement
EFO:0010229	phosphatidylethanolamine ether measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, increases methylation, affects expression	4
trichostatin A	affects cotreatment, decreases expression	3
Benzo(a)pyrene	decreases expression, increases methylation	3
Aflatoxin B1	decreases expression, decreases methylation	3
sodium arsenite	decreases expression, increases abundance, increases expression, affects cotreatment	2
Zoledronic Acid	decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
bisphenol F	affects cotreatment, decreases expression	1
chloroacetaldehyde	decreases expression	1
methylmercuric chloride	increases expression	1
methyleugenol	decreases expression	1
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
2,5,2’,5’-tetrachlorobiphenyl	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	increases expression	1
manganese chloride	affects cotreatment, decreases expression, increases abundance	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
adefovir dipivoxil	decreases 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
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	decreases expression	1
Aldehydes	increases expression	1
Arsenic	increases abundance, affects cotreatment, decreases expression	1
Cisplatin	decreases expression	1

Clinical trials (associated diseases)

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