ST6GALNAC4

Summary

ST6GALNAC4 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4, HGNC:17846) is a protein-coding gene on chromosome 9q34.11, encoding Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase (Q9H4F1). Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of glycoproteins and glycolipids forming an alpha-2,6-linkage.

The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein prefers glycoproteins rather than glycolipids as substrates and shows restricted substrate specificity, utilizing only the trisaccharide sequence Neu5Ac-alpha-2,3-Gal-beta-1,3-GalNAc. In addition, it is involved in the synthesis of ganglioside GD1A from GM1B. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Transcript variants encoding different isoforms have been found for this gene. Readthrough transcripts exist for this gene and the downstream ST6GALNAC6 gene.

Source: NCBI Gene 27090 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 67 total — 1 pathogenic
• MANE Select transcript: NM_175039

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17846
Approved symbol	ST6GALNAC4
Name	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 4
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	ST6GALNACIV, SIAT3C
Ensembl gene	ENSG00000136840
Ensembl biotype	protein_coding
OMIM	606378
Entrez	27090

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 5 protein_coding_CDS_not_defined

ENST00000335791, ENST00000361444, ENST00000467674, ENST00000474282, ENST00000479747, ENST00000483438, ENST00000495983, ENST00000893008, ENST00000893009, ENST00000893010, ENST00000893011, ENST00000893012, ENST00000893013, ENST00000932013, ENST00000959375

RefSeq mRNA: 2 — MANE Select: NM_175039 NM_175039, NM_175040

CCDS: CCDS6883

Canonical transcript exons

ENST00000335791 — 6 exons

Exon	Start	End
ENSE00001459581	127916826	127917041
ENSE00001931956	127907886	127908581
ENSE00003507579	127912268	127912680
ENSE00003597213	127916408	127916494
ENSE00003642887	127909951	127910058
ENSE00003692127	127914656	127914841

Expression profiles

Bgee: expression breadth ubiquitous, 233 present calls, max score 94.49.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 15.4568 / max 142.6183, expressed in 1783 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102617	15.4568	1783

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	94.49	gold quality
apex of heart	UBERON:0002098	91.54	gold quality
upper lobe of left lung	UBERON:0008952	91.01	gold quality
spleen	UBERON:0002106	90.55	gold quality
right atrium auricular region	UBERON:0006631	90.51	gold quality
upper lobe of lung	UBERON:0008948	90.44	gold quality
right ovary	UBERON:0002118	89.83	gold quality
right coronary artery	UBERON:0001625	89.81	gold quality
mucosa of transverse colon	UBERON:0004991	89.75	gold quality
left coronary artery	UBERON:0001626	89.69	gold quality
heart left ventricle	UBERON:0002084	89.69	gold quality
blood	UBERON:0000178	89.66	gold quality
trabecular bone tissue	UBERON:0002483	89.58	gold quality
bone marrow	UBERON:0002371	89.39	gold quality
stromal cell of endometrium	CL:0002255	89.32	gold quality
cardiac ventricle	UBERON:0002082	89.25	gold quality
bone marrow cell	CL:0002092	89.17	gold quality
left ovary	UBERON:0002119	89.14	gold quality
coronary artery	UBERON:0001621	88.90	gold quality
lower esophagus mucosa	UBERON:0035834	88.69	gold quality
ascending aorta	UBERON:0001496	88.65	gold quality
thoracic aorta	UBERON:0001515	88.53	gold quality
cardiac atrium	UBERON:0002081	88.34	gold quality
adenohypophysis	UBERON:0002196	88.26	gold quality
heart	UBERON:0000948	87.91	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.80	gold quality
left uterine tube	UBERON:0001303	87.68	gold quality
right lung	UBERON:0002167	87.40	gold quality
aorta	UBERON:0000947	87.26	gold quality
descending thoracic aorta	UBERON:0002345	87.21	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.01
E-CURD-112	yes	13.30
E-MTAB-9801	yes	5.86

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MZF1, SP1

miRNA regulators (miRDB)

25 targeting ST6GALNAC4, 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-574-5P	100.00	66.01	989
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-9851-3P	99.63	69.68	1110
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-593-5P	99.34	69.50	965
HSA-MIR-133A-5P	99.28	69.13	941
HSA-MIR-6768-3P	99.14	67.38	1319
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-3196	98.96	63.91	326
HSA-MIR-3127-3P	98.94	67.34	1055
HSA-MIR-6756-3P	98.94	66.79	1104
HSA-MIR-3180	98.46	64.68	348
HSA-MIR-3180-3P	98.46	64.68	348
HSA-MIR-6816-5P	98.46	64.35	364
HSA-MIR-138-5P	98.43	70.49	1292
HSA-MIR-224-5P	98.33	70.12	1256
HSA-MIR-4299	98.28	66.96	850
HSA-MIR-4717-5P	98.19	67.97	894
HSA-MIR-891A-3P	98.05	67.99	970
HSA-MIR-7855-5P	97.39	67.18	925
HSA-MIR-1225-3P	97.29	64.60	876
HSA-MIR-122-5P	97.23	64.92	1024
HSA-MIR-6131	97.22	66.72	960
HSA-MIR-644A	96.02	66.52	786

Literature-anchored findings (GeneRIF, showing 5)

• Sp1 and MZF1 are involved in the transcriptional regulation of the hST6GalNAc IV gene in Jurkat T cells (PMID:15528990)
• Data show that serum from a patient with axonal Guillain-Barre syndrome (GBS) with IgG anti-GalNAc-GD1a antibody yielded positive immunostaining with X1, X2, and X3. (PMID:18598683)
• This study implies the potential therapeutic application of miR-4299 and ST6GALNAC4 in modulating the invasion and tumorigenicity of follicular thyroid carcinoma cell (PMID:26715099)
• ST6GALNAC4 promotes hepatocellular carcinogenesis by inducing abnormal glycosylation. (PMID:37381011)
• Human ST3Gal II and ST6GalNAc IV genes increase human serum-mediated cytotoxicity to xenogeneic cells. (PMID:38602029)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	st6galnac4	ENSDARG00000100804
mus_musculus	St6galnac4	ENSMUSG00000079442
rattus_norvegicus	St6galnac4	ENSRNOG00000048870

Paralogs (14): ST3GAL1 (ENSG00000008513), ST3GAL6 (ENSG00000064225), ST6GALNAC1 (ENSG00000070526), ST6GALNAC2 (ENSG00000070731), ST6GAL1 (ENSG00000073849), ST3GAL4 (ENSG00000110080), ST3GAL5 (ENSG00000115525), ST6GALNAC5 (ENSG00000117069), C20orf173 (ENSG00000125975), ST3GAL3 (ENSG00000126091), ST6GAL2 (ENSG00000144057), ST3GAL2 (ENSG00000157350), ST6GALNAC6 (ENSG00000160408), ST6GALNAC3 (ENSG00000184005)

Protein

Protein identifiers

Alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide alpha-2,6-sialyltransferase — Q9H4F1 (reviewed: Q9H4F1)

Alternative names: NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc-alpha-2,6-sialyltransferase, ST6GalNAc IV, Sialyltransferase 3C, Sialyltransferase 7D

All UniProt accessions (2): A6NJX0, Q9H4F1

UniProt curated annotations — full annotation on UniProt →

Function. Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the GalNAc residue on the NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc sequence of glycoproteins and glycolipids forming an alpha-2,6-linkage. Produces branched type disialyl structures by transfer of a sialyl group onto a GalNAc residue inside the backbone core chains. Prefers O-glycans to glycoproteins or glycolipids.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Ubiquitous.

Pathway. Protein modification; protein glycosylation. Glycolipid biosynthesis.

Similarity. Belongs to the glycosyltransferase 29 family.

RefSeq proteins (2): NP_778204, NP_778205 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR038578	GT29-like_sf	Homologous_superfamily

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.7 — alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetylgalactosaminide 6-alpha-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 5 shown:

• a ganglioside GM1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1alpha (d18:1(4E)) + CMP + H(+) (RHEA:41968)
• an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-D-GlcNAc derivative + CMP-N-acetyl-beta-neuraminate = an alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-[alpha-Neu5Ac-(2->6)]-D-GlcNAc derivative + CMP + H(+) (RHEA:53896)
• 3-O-[alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-alpha-D-GalNAc]-L-Ser-[protein] + CMP-N-acetyl-beta-neuraminate = a 3-O-{alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-[alpha-Neu5Ac-(2->6)]-alpha-D-GalNAc}-L-seryl-[protein] + CMP + H(+) (RHEA:65280)
• 3-O-[alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-alpha-D-GalNAc]-L-Thr-[protein] + CMP-N-acetyl-beta-neuraminate = a 3-O-{alpha-Neu5Ac-(2->3)-beta-D-Gal-(1->3)-[alpha-Neu5Ac-(2->6)]-alpha-D-GalNAc}-L-threonyl-[protein] + CMP + H(+) (RHEA:65284)
• N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-D-galactosamine + CMP-N-acetyl-beta-neuraminate = N-acetyl-alpha-neuraminosyl-(2->3)-beta-D-galactosyl-(1->3)-[N-acetyl-alpha-neuraminosyl-(2->6)]-N-acetyl-D-galactosamine + CMP + H(+) (RHEA:65288)

UniProt features (9 total): sequence conflict 3, topological domain 2, chain 1, transmembrane region 1, glycosylation site 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H4F1-F1	89.56	0.75

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 (1): 76–225

Glycosylation sites (1): 135

Function

Pathways and Gene Ontology

Reactome pathways

21 pathways

ID	Pathway
R-HSA-4085001	Sialic acid metabolism
R-HSA-9683673	Maturation of protein 3a
R-HSA-9694548	Maturation of spike protein
R-HSA-9694719	Maturation of protein 3a
R-HSA-977068	Termination of O-glycan biosynthesis
R-HSA-1643685	Disease
R-HSA-392499	Metabolism of proteins
R-HSA-446193	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
R-HSA-446203	Asparagine N-linked glycosylation
R-HSA-446219	Synthesis of substrates in N-glycan biosythesis
R-HSA-5173105	O-linked glycosylation
R-HSA-5663205	Infectious disease
R-HSA-597592	Post-translational protein modification
R-HSA-913709	O-linked glycosylation of mucins
R-HSA-9678108	SARS-CoV-1 Infection
R-HSA-9679506	SARS-CoV Infections
R-HSA-9683701	Translation of Structural Proteins
R-HSA-9694516	SARS-CoV-2 Infection
R-HSA-9694635	Translation of Structural Proteins
R-HSA-9772573	Late SARS-CoV-2 Infection Events
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 236 (showing top): GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, MODULE_52, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, MODULE_45, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, MODULE_16, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, XU_HGF_SIGNALING_NOT_VIA_AKT1_48HR_UP, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, MODULE_66, RICKMAN_METASTASIS_DN, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_SPHINGOLIPID_METABOLIC_PROCESS

GO Biological Process (7): ganglioside biosynthetic process (GO:0001574), glycolipid metabolic process (GO:0006664), oligosaccharide metabolic process (GO:0009311), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), viral protein processing (GO:0019082), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629)

GO Molecular Function (5): alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665), sialyltransferase activity (GO:0008373), alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290), 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-15 pathways:

Category	Pathways
Translation of Structural Proteins	2
Post-translational protein modification	2
SARS-CoV Infections	2
Synthesis of substrates in N-glycan biosythesis	1
Translation of Structural Proteins	1
O-linked glycosylation of mucins	1
Asparagine N-linked glycosylation	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Disease	1
Metabolism of proteins	1
O-linked glycosylation	1
Viral Infection Pathways	1
SARS-CoV-1 Infection	1
Late SARS-CoV-2 Infection Events	1
SARS-CoV-2 Infection	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
sialyltransferase activity	2
ganglioside metabolic process	1
glycosphingolipid biosynthetic process	1
ceramide biosynthetic process	1
liposaccharide metabolic process	1
carbohydrate metabolic process	1
protein O-linked glycosylation	1
viral process	1
viral gene expression	1
primary metabolic process	1
glycosyltransferase activity	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

856 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST6GALNAC4	AHSG	P02765	825
ST6GALNAC4	ST8SIA2	Q92186	644
ST6GALNAC4	C1GALT1	Q9NS00	558
ST6GALNAC4	GCNT3	O95395	554
ST6GALNAC4	ST6GALNAC2	Q9UJ37	518
ST6GALNAC4	GCNT1	Q02742	500
ST6GALNAC4	C1GALT1C1	Q96EU7	490
ST6GALNAC4	SLC35A1	P78382	446
ST6GALNAC4	FUT7	Q11130	441
ST6GALNAC4	EEF1A2	P54266	431
ST6GALNAC4	MAG	P20916	411
ST6GALNAC4	B3GALT2	O43825	393
ST6GALNAC4	B3GALT5	Q9Y2C3	392
ST6GALNAC4	NANS	Q9NR45	390
ST6GALNAC4	FAM9B	Q8IZU0	387

IntAct

19 interactions, top by confidence:

A	B	Type	Score
KLRG2	GXYLT2	psi-mi:“MI:0914”(association)	0.530
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
OR6C4	ST6GALNAC4	psi-mi:“MI:0915”(physical association)	0.400
SPATA20	ST6GALNAC4	psi-mi:“MI:0915”(physical association)	0.370
VTN	HAT1	psi-mi:“MI:0914”(association)	0.350
HLA-DRA	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ST14	LIPT2	psi-mi:“MI:0914”(association)	0.350
C1orf54	AGRN	psi-mi:“MI:0914”(association)	0.350
HFE	PODXL	psi-mi:“MI:0914”(association)	0.350
TMPRSS13	TOR1A	psi-mi:“MI:0914”(association)	0.350
GALNT10	PLXNA2	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC4	HSPA5	psi-mi:“MI:0914”(association)	0.350
PTCH1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
ITM2C		psi-mi:“MI:0914”(association)	0.350
SLC7A14	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): ST6GALNAC4 (Affinity Capture-RNA), ST6GALNAC4 (Affinity Capture-RNA), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), TRIP6 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), FBXO2 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ST6GALNAC4 (Affinity Capture-MS)

ESM2 similar proteins: A4D0V7, F6Q1T7, O09160, O88199, P19526, P97353, Q10979, Q10980, Q10983, Q29043, Q3U269, Q505J3, Q5NDE3, Q5NDF0, Q5NDF1, Q5NDF2, Q658N2, Q67BJ4, Q80VP9, Q80XH4, Q866C5, Q866C7, Q866C9, Q866D2, Q866D6, Q866D9, Q866E1, Q866E4, Q866E6, Q866E7, Q866E8, Q866F0, Q866F1, Q8BW41, Q8N5D6, Q8NAT1, Q8VI38, Q92179, Q95158, Q9BXP8

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P13721, P15907, P61130, P61131, P61643, P61644, P61645, P61943, P70277, Q02745, Q07977, Q08E15, Q11200, Q11201, Q11204, Q11205, Q11206, Q16842, Q2QXM3, Q2R2B1, Q5K027, Q5QQ37, Q5RE85, Q64685, Q64689, Q64690, Q6H8M7, Q6KB54, Q6KB58, Q6KB59, Q6ZH45, Q6ZXC9, Q701R0, Q701R1

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	48
Likely benign	2
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	Pathogenic

SpliceAI

1425 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127909947:TGAC:T	donor_loss	1.0000
9:127910059:CTG:C	acceptor_loss	1.0000
9:127910060:T:G	acceptor_loss	1.0000
9:127910069:C:CT	acceptor_gain	1.0000
9:127912262:GCTCA:G	donor_loss	1.0000
9:127912263:CTCA:C	donor_loss	1.0000
9:127912264:TCACC:T	donor_loss	1.0000
9:127912265:CACCG:C	donor_loss	1.0000
9:127912266:A:AC	donor_gain	1.0000
9:127912266:AC:A	donor_gain	1.0000
9:127912267:C:CC	donor_gain	1.0000
9:127912267:CC:C	donor_gain	1.0000
9:127912267:CCG:C	donor_gain	1.0000
9:127912286:T:TA	donor_gain	1.0000
9:127912677:GCGG:G	acceptor_gain	1.0000
9:127912678:CGGC:C	acceptor_gain	1.0000
9:127912690:A:T	acceptor_gain	1.0000
9:127912694:A:T	acceptor_gain	1.0000
9:127909959:G:C	donor_gain	0.9900
9:127909968:G:T	donor_gain	0.9900
9:127910056:CTC:C	acceptor_gain	0.9900
9:127910057:TC:T	acceptor_gain	0.9900
9:127910058:CC:C	acceptor_gain	0.9900
9:127910059:C:CC	acceptor_gain	0.9900
9:127910065:G:C	acceptor_gain	0.9900
9:127910065:G:GC	acceptor_gain	0.9900
9:127910070:G:T	acceptor_gain	0.9900
9:127910812:CAGA:C	acceptor_gain	0.9900
9:127912267:CCGG:C	donor_gain	0.9900
9:127912267:CCGGT:C	donor_gain	0.9900

AlphaMissense

1968 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127910034:G:C	S212R	0.999
9:127910034:G:T	S212R	0.999
9:127910036:T:G	S212R	0.999
9:127908443:C:A	W286C	0.998
9:127908443:C:G	W286C	0.998
9:127912292:A:C	F196C	0.998
9:127908465:T:A	E279V	0.997
9:127908473:G:C	F276L	0.997
9:127908473:G:T	F276L	0.997
9:127908475:A:G	F276L	0.997
9:127909996:C:T	C225Y	0.997
9:127910035:C:A	S212I	0.997
9:127912291:G:C	F196L	0.997
9:127912291:G:T	F196L	0.997
9:127912292:A:G	F196S	0.997
9:127912293:A:G	F196L	0.997
9:127912567:G:C	N104K	0.997
9:127912567:G:T	N104K	0.997
9:127912636:G:C	S81R	0.997
9:127912636:G:T	S81R	0.997
9:127912638:T:G	S81R	0.997
9:127908464:C:A	E279D	0.996
9:127908464:C:G	E279D	0.996
9:127908474:A:C	F276C	0.996
9:127909976:C:A	G232W	0.996
9:127910022:G:C	F216L	0.996
9:127910022:G:T	F216L	0.996
9:127910024:A:G	F216L	0.996
9:127910027:A:G	W215R	0.996
9:127910027:A:T	W215R	0.996

dbSNP variants (sampled 300 via entrez): RS1000414681 (9:127917451 C>T), RS1001199065 (9:127916566 G>A), RS1001221442 (9:127915893 G>A), RS1001230099 (9:127916925 T>C), RS1001420770 (9:127916985 G>A), RS1001547745 (9:127910437 G>T), RS1001786829 (9:127907510 C>A,T), RS1001798526 (9:127911273 G>A), RS1001891943 (9:127913730 A>C), RS1003007884 (9:127909353 C>T), RS1003199574 (9:127913045 T>C), RS1003440670 (9:127913306 C>T), RS1003540342 (9:127915144 T>C), RS1003576356 (9:127915326 C>T), RS1003751807 (9:127910013 G>T)

Disease associations

OMIM: gene MIM:606378 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST005951_65	Body mass index	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, decreases expression	3
Cyclosporine	increases expression	3
Benzo(a)pyrene	affects methylation	2
Formaldehyde	decreases expression	2
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
2-bromopalmitate	decreases reaction, increases abundance, increases palmitoylation	1
nickel chloride	decreases expression	1
2,3-dimethoxy-1,4-naphthoquinone	decreases expression	1
perfluorooctane sulfonic acid	increases expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Arsenic Trioxide	decreases expression	1
Fulvestrant	increases methylation	1
Air Pollutants	affects expression, increases abundance	1
Antimony	decreases expression	1
Antimony Potassium Tartrate	decreases expression	1
Cadmium	decreases reaction, increases abundance, increases palmitoylation	1
Dexamethasone	affects cotreatment, decreases expression	1
Indomethacin	affects cotreatment, decreases expression	1
Methyl Methanesulfonate	decreases expression	1
Rotenone	increases expression	1
Smoke	decreases expression	1
Thiram	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
Tunicamycin	increases expression	1

Clinical trials (associated diseases)

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