ST6GALNAC3

Summary

ST6GALNAC3 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3, HGNC:19343) is a protein-coding gene on chromosome 1p31.1, encoding Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (Q8NDV1). 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.

ST6GALNAC3 belongs to a family of sialyltransferases that transfer sialic acids from CMP-sialic acid to terminal positions of carbohydrate groups in glycoproteins and glycolipids (Lee et al., 1999 [PubMed 10207017]).

Source: NCBI Gene 256435 — RefSeq curated summary.

At a glance

• GWAS associations: 13
• Clinical variants (ClinVar): 55 total
• MANE Select transcript: NM_152996

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19343
Approved symbol	ST6GALNAC3
Name	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 3
Location	1p31.1
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000184005
Ensembl biotype	protein_coding
OMIM	610133
Entrez	256435

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 1 protein_coding, 1 protein_coding_CDS_not_defined

ENST00000328299, ENST00000464140

RefSeq mRNA: 5 — MANE Select: NM_152996 NM_001349106, NM_001349107, NM_001349108, NM_001349111, NM_152996

CCDS: CCDS672

Canonical transcript exons

ENST00000328299 — 5 exons

Exon	Start	End
ENSE00001290927	76313805	76313999
ENSE00001298882	76628620	76634603
ENSE00001303367	76627452	76627559
ENSE00001453692	76074746	76074884
ENSE00003569196	76412008	76412417

Expression profiles

Bgee: expression breadth ubiquitous, 202 present calls, max score 89.93.

FANTOM5 (CAGE): breadth broad, TPM avg 6.8221 / max 217.0966, expressed in 888 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
3555	4.7736	829
3557	1.2062	538
3556	0.8423	353

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	89.93	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.02	gold quality
cortical plate	UBERON:0005343	82.69	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.62	gold quality
spinal cord	UBERON:0002240	82.18	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	82.00	gold quality
inferior vagus X ganglion	UBERON:0005363	81.48	gold quality
right lung	UBERON:0002167	81.19	gold quality
omental fat pad	UBERON:0010414	80.91	gold quality
peritoneum	UBERON:0002358	80.85	gold quality
adipose tissue of abdominal region	UBERON:0007808	80.44	gold quality
thyroid gland	UBERON:0002046	78.62	gold quality
left lobe of thyroid gland	UBERON:0001120	78.36	gold quality
metanephros	UBERON:0000081	78.32	gold quality
medial globus pallidus	UBERON:0002477	77.51	gold quality
Brodmann (1909) area 46	UBERON:0006483	77.40	gold quality
monocyte	CL:0000576	76.93	gold quality
adipose tissue	UBERON:0001013	76.82	gold quality
right lobe of thyroid gland	UBERON:0001119	76.78	gold quality
adrenal tissue	UBERON:0018303	76.68	gold quality
smooth muscle tissue	UBERON:0001135	76.51	gold quality
subthalamic nucleus	UBERON:0001906	76.45	gold quality
leukocyte	CL:0000738	76.42	gold quality
kidney epithelium	UBERON:0004819	76.40	silver quality
ventricular zone	UBERON:0003053	76.14	gold quality
subcutaneous adipose tissue	UBERON:0002190	75.63	gold quality
pericardium	UBERON:0002407	75.61	gold quality
globus pallidus	UBERON:0001875	75.54	gold quality
substantia nigra	UBERON:0002038	75.52	gold quality
medulla oblongata	UBERON:0001896	75.44	gold quality

Single-cell (SCXA)

Detected in 9 experiment(s), a significant marker in 8.

Experiment	Marker?	Max mean expression
E-GEOD-131882	yes	7969.23
E-CURD-119	yes	6421.54
E-ANND-2	yes	3270.63
E-HCAD-30	yes	1955.02
E-HCAD-35	yes	25.42
E-HCAD-10	yes	19.75
E-HCAD-25	yes	18.31
E-ANND-3	yes	7.42
E-MTAB-11268	no	2123.90

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SP1

miRNA regulators (miRDB)

150 targeting ST6GALNAC3, 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-4455	100.00	65.48	1587
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-432-3P	100.00	67.86	705
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-6798-5P	100.00	65.77	699
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-4481	100.00	66.42	1669
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-186-5P	99.99	70.83	3707
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-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939

Literature-anchored findings (GeneRIF, showing 4)

• Results describe the molecular cloning and expression of human ST6GalNAc III, including its tissue distribution and substrate specificity. (PMID:16169874)
• genome-wide association study in population in Finland: Data suggest that one SNP in ST6GALNAC3 (rs12144344) and two SNPs in VDBP (vitamin D binding protein; rs7041, rs705117) are associated with serum levels of VDBP in the male population studied. (PMID:24740207)
• Biomarker potential of ST6GALNAC3 and ZNF660 promoter hypermethylation in prostate cancer tissue and liquid biopsies. (PMID:29465788)
• Depletion of ST6GALNACIII retards A549 non-small cell lung cancer cell proliferation by downregulating transferrin receptor protein 1 expression. (PMID:34461439)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	st6galnac3	ENSDARG00000058473
mus_musculus	St6galnac3	ENSMUSG00000052544
rattus_norvegicus	St6galnac3	ENSRNOG00000056894

Paralogs (14): ST3GAL1 (ENSG00000008513), ST3GAL6 (ENSG00000064225), ST6GALNAC1 (ENSG00000070526), ST6GALNAC2 (ENSG00000070731), ST6GAL1 (ENSG00000073849), ST3GAL4 (ENSG00000110080), ST3GAL5 (ENSG00000115525), ST6GALNAC5 (ENSG00000117069), C20orf173 (ENSG00000125975), ST3GAL3 (ENSG00000126091), ST6GALNAC4 (ENSG00000136840), ST6GAL2 (ENSG00000144057), ST3GAL2 (ENSG00000157350), ST6GALNAC6 (ENSG00000160408)

Protein

Protein identifiers

Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 — Q8NDV1 (reviewed: Q8NDV1)

Alternative names: GalNAc alpha-2,6-sialyltransferase III, ST6GalNAc III, STY, Sialyltransferase 7C

All UniProt accessions (1): Q8NDV1

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. ST6GalNAcIII prefers glycolipids to glycoproteins, predominantly catalyzing the biosynthesis of ganglioside GD1alpha from GM1b. GD1alpha is a critical molecule in the communication and interaction between neuronal cells and their supportive cells, particularly in brain tissues, and functions as an adhesion molecule in the process of metastasis. Sialylation of glycoproteins or glycosphingolipids is very important in tumor development, neuronal development, nerve repair, immunological processes and regulation of hormone sensitivity.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Expressed in brain and kidney. Observed in the epithelium of the proximal tubules, marginal expression was also found in the distal tubules and collecting tubules.

Pathway. Protein modification; protein glycosylation. Glycolipid biosynthesis.

Similarity. Belongs to the glycosyltransferase 29 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8NDV1-1	1	yes
Q8NDV1-2	2

RefSeq proteins (5): NP_001336035, NP_001336036, NP_001336037, NP_001336040, NP_694541* (*=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)
• a globoside MSGG + CMP-N-acetyl-beta-neuraminate = a globoside DSGG + CMP + H(+) (RHEA:56088)
• 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)

UniProt features (12 total): glycosylation site 3, topological domain 2, splice variant 2, chain 1, sequence variant 1, sequence conflict 1, transmembrane region 1, disulfide bond 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8NDV1-F1	89.19	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): 80–229

Glycosylation sites (3): 148, 239, 301

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: 181 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_BCELL_DN, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, ATGTTAA_MIR302C, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GOBP_GLYCOSPHINGOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_GANGLIOSIDE_BIOSYNTHETIC_PROCESS

GO Biological Process (9): ganglioside biosynthetic process (GO:0001574), glycosylceramide metabolic process (GO:0006677), glycosphingolipid metabolic process (GO:0006687), glycoprotein metabolic process (GO:0009100), oligosaccharide metabolic process (GO:0009311), viral protein processing (GO:0019082), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), glycolipid metabolic process (GO:0006664)

GO Molecular Function (6): 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), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): Golgi membrane (GO:0000139), nucleoplasm (GO:0005654), 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
cellular anatomical structure	2
ganglioside metabolic process	1
glycosphingolipid biosynthetic process	1
ceramide biosynthetic process	1
ceramide metabolic process	1
glycosphingolipid metabolic process	1
glycolipid metabolic process	1
sphingolipid metabolic process	1
protein metabolic process	1
carbohydrate derivative metabolic process	1
carbohydrate metabolic process	1
viral process	1
viral gene expression	1
primary metabolic process	1
liposaccharide metabolic process	1
glycosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
nuclear lumen	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

698 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST6GALNAC3	AHSG	P02765	773
ST6GALNAC3	ST6GALNAC1	Q9NSC7	591
ST6GALNAC3	ZNF660	Q6AZW8	569
ST6GALNAC3	ST8SIA1	Q92185	551
ST6GALNAC3	ST8SIA6	P61647	533
ST6GALNAC3	ST3GAL5	Q9UNP4	523
ST6GALNAC3	ST8SIA2	Q92186	512
ST6GALNAC3	C1GALT1	Q9NS00	494
ST6GALNAC3	ST6GALNAC2	Q9UJ37	480
ST6GALNAC3	ST8SIA5	O15466	476
ST6GALNAC3	CCDC181	Q5TID7	475
ST6GALNAC3	B4GALT4	O60513	442
ST6GALNAC3	ZNF583	Q96ND8	420
ST6GALNAC3	GALNT4	Q8N4A0	402
ST6GALNAC3	HAPLN3	Q96S86	396

IntAct

25 interactions, top by confidence:

A	B	Type	Score
TTMP	ST6GALNAC3	psi-mi:“MI:0915”(physical association)	0.560
KLRG2	GXYLT2	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
ANKH	FAM234B	psi-mi:“MI:0914”(association)	0.530
HLA-DRA	TMEM223	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
LDLRAD1	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
CLEC2D	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CRLF2	METTL15	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	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
HPN	TOR1A	psi-mi:“MI:0914”(association)	0.350
EDDM3B	PLXNB2	psi-mi:“MI:0914”(association)	0.350
GALNT10	PLXNA2	psi-mi:“MI:0914”(association)	0.350
ST6GALNAC3	DUSP14	psi-mi:“MI:0914”(association)	0.350
SLC39A12	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC44A1	UPK3BL1	psi-mi:“MI:0914”(association)	0.350
SLC7A6	FAAH	psi-mi:“MI:0914”(association)	0.350
SLC7A8	SPTLC1	psi-mi:“MI:0914”(association)	0.350
TTMP	ST6GALNAC3	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (47): CAMK1 (Affinity Capture-MS), SAAL1 (Affinity Capture-MS), SELENBP1 (Affinity Capture-MS), PON2 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), PKP3 (Affinity Capture-MS), ST6GALNAC3 (Affinity Capture-MS), ST6GALNAC3 (Affinity Capture-MS), GGT7 (Affinity Capture-MS), ST6GALNAC3 (Affinity Capture-MS), ST6GALNAC3 (Affinity Capture-MS), CAMK1 (Affinity Capture-MS), DSG4 (Affinity Capture-MS), PON2 (Affinity Capture-MS), ST6GALNAC3 (Affinity Capture-MS)

ESM2 similar proteins: A7RX69, O15466, O35696, O43173, P38566, P48794, P54751, P61130, P61131, P61643, P61644, P61645, P61646, P61647, P61648, P70126, P70277, Q02745, Q07977, Q08E15, Q11200, Q11201, Q11204, Q11205, Q11206, Q16842, Q4V8F8, Q64686, Q64689, Q64690, Q64692, Q68G12, Q6KB55, Q6KB58, Q6KB59, Q6ZXC8, Q6ZXC9, Q70D51, Q812F3, Q8K4T1

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O88829, P13721, P15907, P54751, P61132, Q02745, Q11200, Q11201, Q11203, Q2QXM3, Q2R2B1, Q5K027, Q5QQ37, Q64685, Q6KB59, Q6ZH45, Q701R0, Q701R1, Q701R2, Q701R3, Q701R4, Q76K27, Q7FA29, Q8NDV1, Q8RY00, Q8VZJ0, Q92182, Q92186, Q94DD4, Q96JF0, Q9SGD2, P61130, P61131, P61943, P97325, Q02734

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	48
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

4883 predictions. Top by Δscore:

Variant	Effect	Δscore
1:76412003:TTCA:T	acceptor_loss	1.0000
1:76412004:TCA:T	acceptor_loss	1.0000
1:76412005:CAG:C	acceptor_loss	1.0000
1:76412006:A:AG	acceptor_gain	1.0000
1:76412007:G:GA	acceptor_loss	1.0000
1:76412007:G:GG	acceptor_gain	1.0000
1:76412007:GC:G	acceptor_gain	1.0000
1:76412007:GCC:G	acceptor_gain	1.0000
1:76412007:GCCT:G	acceptor_gain	1.0000
1:76412007:GCCTT:G	acceptor_gain	1.0000
1:76627451:GA:G	acceptor_gain	1.0000
1:76627560:G:GG	donor_gain	1.0000
1:76074880:TGAAG:T	donor_loss	0.9900
1:76074882:AAGGT:A	donor_loss	0.9900
1:76074885:G:T	donor_loss	0.9900
1:76074886:T:A	donor_loss	0.9900
1:76076177:GAATA:G	donor_gain	0.9900
1:76076181:A:G	donor_gain	0.9900
1:76297929:G:GT	donor_gain	0.9900
1:76298872:G:GT	donor_gain	0.9900
1:76300942:A:T	donor_gain	0.9900
1:76300962:A:T	donor_gain	0.9900
1:76313795:T:G	acceptor_gain	0.9900
1:76411999:A:AG	acceptor_gain	0.9900
1:76412000:T:G	acceptor_gain	0.9900
1:76412136:TTATG:T	donor_gain	0.9900
1:76627441:A:AG	acceptor_gain	0.9900
1:76627442:T:G	acceptor_gain	0.9900
1:76627450:A:AG	acceptor_gain	0.9900
1:76627451:G:GG	acceptor_gain	0.9900

AlphaMissense

2020 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:76412032:T:C	C80R	0.999
1:76412034:T:G	C80W	0.999
1:76412111:G:C	R106T	0.999
1:76412112:A:C	R106S	0.999
1:76412112:A:T	R106S	0.999
1:76412117:A:T	N108I	0.999
1:76412118:C:A	N108K	0.999
1:76412118:C:G	N108K	0.999
1:76412171:G:C	R126P	0.999
1:76412188:A:C	S132R	0.999
1:76412190:C:A	S132R	0.999
1:76412190:C:G	S132R	0.999
1:76412257:T:A	W155R	0.999
1:76412257:T:C	W155R	0.999
1:76412392:T:C	F200L	0.999
1:76412393:T:C	F200S	0.999
1:76412393:T:G	F200C	0.999
1:76412394:T:A	F200L	0.999
1:76412394:T:G	F200L	0.999
1:76627474:A:C	S216R	0.999
1:76627476:C:A	S216R	0.999
1:76627476:C:G	S216R	0.999
1:76627514:G:A	C229Y	0.999
1:76627515:T:G	C229W	0.999
1:76627534:G:T	G236W	0.999
1:76627555:T:A	C243S	0.999
1:76627556:G:C	C243S	0.999
1:76628648:C:G	H254D	0.999
1:76628675:T:A	C263S	0.999
1:76628676:G:C	C263S	0.999

dbSNP variants (sampled 300 via entrez): RS1000000805 (1:76393828 T>C,G), RS1000002911 (1:76274283 G>C), RS1000004627 (1:76626847 T>C), RS1000007555 (1:76350459 C>G), RS1000008396 (1:76090052 A>G), RS1000010629 (1:76133880 T>A,C), RS1000014013 (1:76214905 G>A), RS1000016125 (1:76105966 A>G), RS1000024378 (1:76382723 T>C), RS1000035399 (1:76173353 T>G), RS1000043058 (1:76088334 G>A), RS1000061782 (1:76459833 T>C), RS1000062935 (1:76617131 G>A), RS1000065480 (1:76259993 C>T), RS1000072756 (1:76617453 A>G)

Disease associations

OMIM: gene MIM:610133 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST000464_9	Acute lymphoblastic leukemia (childhood)	4.000000e-06
GCST002207_9	Liver enzyme levels (alanine transaminase)	2.000000e-07
GCST002208_7	Liver enzyme levels (aspartate transaminase)	1.000000e-06
GCST002414_2	Serum vitamin D-binding protein levels	6.000000e-07
GCST002616_6	Mitochondrial DNA levels	4.000000e-06
GCST002809_1	Bipolar disorder	3.000000e-06
GCST004068_43	Venous thromboembolism adjusted for sickle cell variant rs77121243-T	2.000000e-06
GCST004765_27	Total cholesterol change in response to fenofibrate in statin-treated type 2 diabetes	1.000000e-06
GCST004863_12	Mosquito bite size	3.000000e-07
GCST009210_1	Middle temporal gyrus volume	3.000000e-06
GCST010677_7	Liver fibrogenesis (alpha smooth muscle actin levels)	5.000000e-06
GCST011624_4	Tau burden	8.000000e-08
GCST90000014_6	Parkinson’s disease motor subtype (tremor dominant vs postural instability/gait difficulty)	5.000000e-06

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004736	aspartate aminotransferase measurement
EFO:0005675	vitamin D-binding protein measurement
EFO:0006312	mitochondrial DNA measurement
EFO:0007806	total cholesterol change measurement
EFO:0008378	mosquito bite reaction size measurement
EFO:0010576	liver fibrosis measurement
EFO:0004760	t-tau measurement

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
Valproic Acid	affects cotreatment, increases expression, affects expression	5
aristolochic acid I	decreases expression	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, increases activity, increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
pentanal	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
abrine	decreases expression	1
quinocetone	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Carbamazepine	affects expression	1
Cisplatin	affects cotreatment, decreases expression	1
Cytarabine	decreases expression	1
Doxorubicin	decreases expression	1
Phthalic Acids	decreases methylation	1
Smoke	decreases expression	1
Triclosan	increases expression	1
Aflatoxin B1	decreases methylation	1
Aflatoxin M1	decreases expression	1

Clinical trials (associated diseases)

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