GALNT4

Summary

GALNT4 (polypeptide N-acetylgalactosaminyltransferase 4, HGNC:4126) is a protein-coding gene on chromosome 12q21.33, encoding Polypeptide N-acetylgalactosaminyltransferase 4 (Q8N4A0). 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.

This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5’ exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist.

Source: NCBI Gene 8693 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 46 total — 1 likely-pathogenic
• MANE Select transcript: NM_003774

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4126
Approved symbol	GALNT4
Name	polypeptide N-acetylgalactosaminyltransferase 4
Location	12q21.33
Locus type	gene with protein product
Status	Approved
Aliases	GalNAc-T4
Ensembl gene	ENSG00000257594
Ensembl biotype	protein_coding
OMIM	603565
Entrez	8693

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000529983

RefSeq mRNA: 1 — MANE Select: NM_003774 NM_003774

CCDS: CCDS53817

Canonical transcript exons

ENST00000529983 — 1 exons

Exon	Start	End
ENSE00002156092	89519412	89524796

Expression profiles

Bgee: expression breadth ubiquitous, 132 present calls, max score 92.29.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.5991 / max 89.1680, expressed in 1277 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
132455	2.5638	1263
132454	0.0353	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
endometrium	UBERON:0001295	92.29	gold quality
rectum	UBERON:0001052	87.28	gold quality
duodenum	UBERON:0002114	86.50	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	85.09	gold quality
gall bladder	UBERON:0002110	83.43	gold quality
saliva-secreting gland	UBERON:0001044	81.27	gold quality
minor salivary gland	UBERON:0001830	81.27	gold quality
monocyte	CL:0000576	79.84	gold quality
leukocyte	CL:0000738	79.51	gold quality
mucosa of transverse colon	UBERON:0004991	78.70	gold quality
islet of Langerhans	UBERON:0000006	77.77	gold quality
vermiform appendix	UBERON:0001154	76.76	gold quality
transverse colon	UBERON:0001157	76.22	gold quality
small intestine	UBERON:0002108	76.00	gold quality
bone marrow	UBERON:0002371	75.39	gold quality
stromal cell of endometrium	CL:0002255	75.36	gold quality
stomach	UBERON:0000945	75.21	gold quality
small intestine Peyer’s patch	UBERON:0003454	75.16	gold quality
body of stomach	UBERON:0001161	75.13	gold quality
colonic epithelium	UBERON:0000397	74.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	74.58	gold quality
tonsil	UBERON:0002372	74.53	gold quality
calcaneal tendon	UBERON:0003701	73.77	gold quality
fallopian tube	UBERON:0003889	73.71	gold quality
bone marrow cell	CL:0002092	73.35	gold quality
smooth muscle tissue	UBERON:0001135	73.27	gold quality
pancreas	UBERON:0001264	73.20	gold quality
intestine	UBERON:0000160	72.95	gold quality
adrenal tissue	UBERON:0018303	72.15	gold quality
right uterine tube	UBERON:0001302	72.03	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.63

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

139 targeting GALNT4, 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-4262	100.00	73.26	3931
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-4282	99.99	75.36	6408
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-186-5P	99.99	70.83	3707
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753

Literature-anchored findings (GeneRIF, showing 9)

• GALNT4 identified as a risk gene for cardiovascular disease, whose effects may be on either platelet or endothelial function through modifications of PSGL1 or other important glycosylated proteins. (PMID:18259693)
• GALNT14 may contribute to ovarian carcinogenesis through aberrant glycosylation of MUC13. (PMID:23708057)
• Intronic SNP in POC1B/GALNT4 locus (rs11105306) was associated with NT-proBNP levels in patients with acute coronary syndrome (ACS). The POC1B/GALNT4 SNP was not associated with higher risk of cardiovascular death. (PMID:26908625)
• GALNT4 Expression Is Directly Regulated by miR-9. (PMID:28062574)
• miR4262 may be involved in the development of colon cancer via targeting of GALNT4. (PMID:28731150)
• Insights into the structure of PGAP4 (GALNT4) and the initial step of GPI-GalNAc biosynthesis have been elucidated. (PMID:29374258)
• GALNT4 stage-dependent expression in colorectal cancer progression.GALNT4 expression may contribute to the tumorigenesis at the early stage and promote cell migration and invasion at the advanced stage of the colorectal cancer. (PMID:29931806)
• MiR-506-3p acts as a novel tumor suppressor in prostate cancer through targeting GALNT4. (PMID:31298366)
• Reduced expression of ppGalNAc-T4 promotes proliferation of human breast cancer cells. (PMID:33079401)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	poc1bl	ENSDARG00000012745
mus_musculus	Galnt4	ENSMUSG00000090035
drosophila_melanogaster	Pgant5	FBGN0031681
drosophila_melanogaster	Pgant9	FBGN0050463
caenorhabditis_elegans		WBGENE00001628
caenorhabditis_elegans		WBGENE00001630

Paralogs (19): GALNT16 (ENSG00000100626), 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)

Protein

Protein identifiers

Polypeptide N-acetylgalactosaminyltransferase 4 — Q8N4A0 (reviewed: Q8N4A0)

Alternative names: Polypeptide GalNAc transferase 4, Protein-UDP acetylgalactosaminyltransferase 4, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 4

All UniProt accessions (1): Q8N4A0

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. Has a highest activity toward Muc7, EA2 and Muc2, with a lowest activity than GALNT2. Glycosylates ‘Thr-57’ of SELPLG.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Ubiquitous. Highly expressed in mucous cells.

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 directs the glycopeptide specificity. It is required in the glycopeptide specificity of enzyme activity but not for activity with naked peptide substrates, suggesting that it triggers the catalytic domain to act on GalNAc-glycopeptide substrates.

Pathway. Protein modification; protein glycosylation.

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

Isoforms (2)

UniProt ID	Names	Canonical?
Q8N4A0-1	1	yes
Q8N4A0-2	2

RefSeq proteins (1): NP_003765* (*=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

Enzyme classification (BRENDA):

• EC 2.4.1.41 — polypeptide N-acetylgalactosaminyltransferase (BRENDA: 21 organisms, 537 substrates, 86 inhibitors, 206 Km, 52 kcat entries)

Substrate kinetics (BRENDA)

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

Substrate	Km (mM)	Measurements
UDP-GALNAC	0.0017–16	32
UDP-N-ACETYL-D-GALACTOSAMINE	0.008–0.081	11
PTTDSTTPAPTTK	0.042–1.02	7
GTTPSPVPTTSTTSAP	0.0259–0.344	5
MUC5AC-13	0.018–0.77	5
MUC5AC-3	0.033–0.107	5
STPSTPSTPSTPSTP	0.2–0.65	5
CPPTPSATTPAPPSSSAPPETTAA	0.01–0.48	4
DSTTPAPTTK	0.07–2.19	4
GTTPSPVPTTST[GALNAC]TSAP	0.115–0.46	4
GT[GALNAC]TPSPVPTTSTTSAP	0.035–0.332	4
UDP-GAL	0.027–0.041	4
GVVPTVVPG	1.74–17.6	3
IGA HINGE	0.01–0.02	3
IGA HINGE-4GALNAC	0.12–0.81	3

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 (85 total): strand 26, helix 22, binding site 7, disulfide bond 5, turn 5, site 3, sequence variant 3, sequence conflict 3, topological domain 2, splice variant 2, region of interest 2, chain 1, glycosylation site 1, transmembrane region 1, mutagenesis site 1, domain 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6H0B	X-RAY DIFFRACTION	1.8
5NQA	X-RAY DIFFRACTION	1.9

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8N4A0-F1	91.68	0.84

Functional residue map

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

Catalytic / active sites (3): 459 (interaction with glycopeptide substrate); 478 (interaction with glycopeptide substrate); 483 (interaction with glycopeptide substrate)

Ligand- & substrate-binding residues (7): 229; 334; 362; 370; 175; 204; 227

Disulfide bonds (5): 124–357, 348–421, 457–477, 503–518, 547–565

Glycosylation sites (1): 471

Mutagenesis-validated functional residues (1):

Position	Phenotype
459	affects the glycopeptide specificity and abolishes ability to glycosylate muc1, muc2 and muc5ac.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 138 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GGGCATT_MIR365, chr12q21, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, AACTTT_UNKNOWN, CDPCR3HD_01, RGAGGAARY_PU1_Q6, BARRIER_CANCER_RELAPSE_NORMAL_SAMPLE_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS, ZHENG_FOXP3_TARGETS_IN_THYMUS_UP

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 (7): polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653), manganese ion binding (GO:0030145), carbohydrate binding (GO:0030246), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757), metal ion binding (GO:0046872)

GO Cellular Component (5): Golgi membrane (GO:0000139), perinuclear region of cytoplasm (GO:0048471), extracellular exosome (GO:0070062), 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
binding	2
cytoplasm	2
cellular anatomical structure	2
glycoprotein biosynthetic process	1
protein O-linked glycosylation	1
acetylgalactosaminyltransferase activity	1
catalytic activity, acting on a protein	1
transition metal ion binding	1
catalytic activity	1
transferase activity	1
cation binding	1
Golgi apparatus	1
bounding membrane of organelle	1
extracellular vesicle	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

462 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GALNT4	B4GALNT1	Q00973	831
GALNT4	MUC1	P13931	829
GALNT4	MUC2	Q02817	696
GALNT4	C1GALT1	Q9NS00	565
GALNT4	MUC7	Q8TAX7	547
GALNT4	MGAT5	Q09328	543
GALNT4	MUC5AC	P98088	527
GALNT4	GCNT1	Q02742	514
GALNT4	ST3GAL1	Q11201	507
GALNT4	C1GALT1C1	Q96EU7	501
GALNT4	GCNT3	O95395	471
GALNT4	COPB1	P53618	455
GALNT4	ST6GALNAC1	Q9NSC7	445
GALNT4	ST6GAL1	P15907	423
GALNT4	ARCN1	P48444	415

IntAct

38 interactions, top by confidence:

A	B	Type	Score
APOF	GALNT4	psi-mi:“MI:0915”(physical association)	0.590
GALNT4		psi-mi:“MI:0915”(physical association)	0.560
HTT	GALNT4	psi-mi:“MI:0915”(physical association)	0.560
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
GAA	B3GAT3	psi-mi:“MI:0914”(association)	0.530
PIANP	TCAF2	psi-mi:“MI:0914”(association)	0.350
POC1B	TACC1	psi-mi:“MI:0914”(association)	0.350
ADPGK	TOR1B	psi-mi:“MI:0914”(association)	0.350
MPPE1	ADAM10	psi-mi:“MI:0914”(association)	0.350
GALNT7	GAA	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
MPPE1	FAM234B	psi-mi:“MI:0914”(association)	0.350
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350

BioGRID (30): GALNT4 (Affinity Capture-MS), POC1B-GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), MUC1 (Biochemical Activity), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), GALNT4 (Affinity Capture-MS), POC1B-GALNT4 (Affinity Capture-MS)

ESM2 similar proteins: A0A1S6M251, A8Y1P7, H0ZAB5, L7YAI7, O08832, O43286, O43505, O60513, O60909, O61394, O88419, P08037, P15291, P15535, P34548, P34678, P70419, Q09323, Q09363, Q14435, Q3YL68, Q5EA01, Q5EA87, Q5QQ54, Q5R4S2, Q66HH1, Q6P768, Q6WV17, Q6WV20, Q7K755, Q7Z1Z1, Q80WN7, Q80WN8, Q80WN9, Q8BWP8, Q8I136, Q8IA42, Q8IA43, Q8MVS5, Q8N4A0

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.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	41
Likely benign	3
Benign	1

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
208386	NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)	Likely pathogenic

SpliceAI

238 predictions. Top by Δscore:

Variant	Effect	Δscore
12:89524179:CA:C	donor_gain	0.9700
12:89523326:A:AC	donor_gain	0.9600
12:89524441:C:T	acceptor_loss	0.9600
12:89524442:T:G	acceptor_loss	0.9600
12:89524438:CTC:C	acceptor_gain	0.9400
12:89524640:C:A	donor_gain	0.9300
12:89524443:G:C	acceptor_loss	0.9200
12:89524441:C:CC	acceptor_gain	0.9100
12:89524451:A:C	acceptor_gain	0.9100
12:89524653:T:TA	donor_gain	0.9100
12:89521415:A:C	donor_gain	0.9000
12:89524639:T:TA	donor_gain	0.9000
12:89524439:TC:T	acceptor_gain	0.8800
12:89524440:CC:C	acceptor_gain	0.8800
12:89524179:CACT:C	donor_gain	0.8600
12:89524450:CA:C	acceptor_gain	0.8300
12:89524523:G:A	donor_gain	0.8300
12:89523555:T:TA	donor_gain	0.8100
12:89524451:A:AC	acceptor_gain	0.8100
12:89524437:GCTC:G	acceptor_gain	0.7900
12:89524438:CTCC:C	acceptor_gain	0.7900
12:89524439:TCCT:T	acceptor_gain	0.7900
12:89524178:A:AC	donor_gain	0.7800
12:89524179:C:CC	donor_gain	0.7800
12:89524187:CATT:C	donor_gain	0.7700
12:89524436:GGCTC:G	acceptor_gain	0.7600
12:89523860:A:AC	donor_gain	0.7500
12:89523861:C:CC	donor_gain	0.7500
12:89524444:C:CT	acceptor_gain	0.7500
12:89524445:G:T	acceptor_gain	0.7200

AlphaMissense

3805 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:89523394:A:G	W386R	1.000
12:89523394:A:T	W386R	1.000
12:89523458:G:C	F364L	1.000
12:89523458:G:T	F364L	1.000
12:89523459:A:C	F364C	1.000
12:89523460:A:G	F364L	1.000
12:89523464:A:C	H362Q	1.000
12:89523464:A:T	H362Q	1.000
12:89523466:G:C	H362D	1.000
12:89523536:G:C	N338K	1.000
12:89523536:G:T	N338K	1.000
12:89523548:C:A	W334C	1.000
12:89523548:C:G	W334C	1.000
12:89523550:A:G	W334R	1.000
12:89523550:A:T	W334R	1.000
12:89523692:C:A	W286C	1.000
12:89523692:C:G	W286C	1.000
12:89523694:A:G	W286R	1.000
12:89523694:A:T	W286R	1.000
12:89523698:A:C	F284L	1.000
12:89523698:A:T	F284L	1.000
12:89523700:A:G	F284L	1.000
12:89523712:A:G	W280R	1.000
12:89523712:A:T	W280R	1.000
12:89523870:T:A	D227V	1.000
12:89523870:T:G	D227A	1.000
12:89523042:C:G	C503S	0.999
12:89523043:A:G	C503R	0.999
12:89523043:A:T	C503S	0.999
12:89523120:C:G	C477S	0.999

dbSNP variants (sampled 300 via entrez): RS1000403457 (12:89522797 A>C,G), RS1000437746 (12:89524241 A>G), RS1000683978 (12:89524504 C>A,G,T), RS1000797650 (12:89519451 TAATC>T), RS1001173031 (12:89525453 C>A,T), RS1001588898 (12:89523387 T>C,G), RS1001844482 (12:89522925 G>A), RS1002313819 (12:89524453 G>A,C), RS1002595159 (12:89520226 A>T), RS1003310537 (12:89526390 A>G), RS1003627128 (12:89526638 G>A), RS1003778296 (12:89520769 C>G,T), RS1004119079 (12:89520518 C>T), RS1004211360 (12:89522723 T>A), RS1004417372 (12:89524731 C>A,G)

Disease associations

OMIM: gene MIM:603565 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): childhood-onset schizophrenia (MONDO:0957430)

Orphanet (1): Childhood-onset schizophrenia (Orphanet:641496)

HPO phenotypes

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

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003298_3	NT-proBNP levels in acute coronary syndrome	1.000000e-16
GCST005208_3	B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio	7.000000e-23
GCST005208_4	B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio	4.000000e-07

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005278	cardiovascular disease biomarker measurement
EFO:0008469	B-type natriuretic peptide to N-terminal pro B-type natriuretic peptide ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation, increases expression	2
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	2
Resveratrol	increases expression, affects cotreatment	2
triphenyl phosphate	affects expression	1
o,p’-DDT	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
pentanal	decreases expression	1
pentabromodiphenyl ether	decreases expression	1
abrine	decreases expression	1
Bortezomib	increases expression	1
Air Pollutants	decreases expression	1
Diethylstilbestrol	increases expression	1
Estradiol	increases expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	decreases expression	1
Valproic Acid	increases expression	1
Zearalenone	increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	decreases expression	1
Okadaic Acid	increases expression	1
Genistein	increases expression	1
Particulate Matter	decreases expression	1

Clinical trials (associated diseases)

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