ST3GAL2

Summary

ST3GAL2 (ST3 beta-galactoside alpha-2,3-sialyltransferase 2, HGNC:10863) is a protein-coding gene on chromosome 16q22.1, encoding CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 (Q16842). A beta-galactoside alpha2-3 sialyltransferase primarily involved in terminal sialylation of ganglio and globo series glycolipids.

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 is normally found in the Golgi but can be proteolytically processed to a soluble form. This protein, which is a member of glycosyltransferase family 29, can use the same acceptor substrates as does sialyltransferase 4A.

Source: NCBI Gene 6483 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 55 total — 1 pathogenic
• MANE Select transcript: NM_006927

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10863
Approved symbol	ST3GAL2
Name	ST3 beta-galactoside alpha-2,3-sialyltransferase 2
Location	16q22.1
Locus type	gene with protein product
Status	Approved
Aliases	ST3GALII, ST3GalA.2
Ensembl gene	ENSG00000157350
Ensembl biotype	protein_coding
OMIM	607188
Entrez	6483

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 16 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000342907, ENST00000393640, ENST00000561708, ENST00000566097, ENST00000567586, ENST00000567822, ENST00000859575, ENST00000859576, ENST00000859577, ENST00000933937, ENST00000933938, ENST00000933939, ENST00000933940, ENST00000945974, ENST00000945975, ENST00000945976, ENST00000945977, ENST00000945978, ENST00000945979, ENST00000945980

RefSeq mRNA: 1 — MANE Select: NM_006927 NM_006927

CCDS: CCDS10890

Canonical transcript exons

ENST00000342907 — 7 exons

Exon	Start	End
ENSE00001297781	70375977	70381862
ENSE00001311544	70438949	70439100
ENSE00001372639	70398192	70399533
ENSE00003554459	70383190	70383235
ENSE00003556184	70382805	70382924
ENSE00003687370	70388367	70388546
ENSE00003895176	70394982	70395175

Expression profiles

Bgee: expression breadth ubiquitous, 248 present calls, max score 91.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 17.0870 / max 193.0262, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
157941	13.1155	1746
157933	2.6198	885
157942	0.8144	576
157940	0.5374	234

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	91.75	gold quality
tendon of biceps brachii	UBERON:0008188	90.78	gold quality
endothelial cell	CL:0000115	90.00	gold quality
buccal mucosa cell	CL:0002336	89.42	gold quality
periodontal ligament	UBERON:0008266	88.58	gold quality
cortical plate	UBERON:0005343	88.49	gold quality
stromal cell of endometrium	CL:0002255	88.22	gold quality
monocyte	CL:0000576	87.17	gold quality
leukocyte	CL:0000738	87.10	gold quality
mononuclear cell	CL:0000842	87.06	gold quality
trabecular bone tissue	UBERON:0002483	86.96	gold quality
hindlimb stylopod muscle	UBERON:0004252	86.82	gold quality
granulocyte	CL:0000094	86.26	gold quality
vermiform appendix	UBERON:0001154	86.01	gold quality
tibia	UBERON:0000979	85.94	silver quality
triceps brachii	UBERON:0001509	85.86	silver quality
CA1 field of hippocampus	UBERON:0003881	85.83	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	85.62	silver quality
gluteal muscle	UBERON:0002000	85.55	silver quality
caecum	UBERON:0001153	85.14	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	84.56	silver quality
seminal vesicle	UBERON:0000998	84.40	gold quality
superficial temporal artery	UBERON:0001614	84.29	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.16	gold quality
visceral pleura	UBERON:0002401	84.16	gold quality
lymph node	UBERON:0000029	84.06	gold quality
biceps brachii	UBERON:0001507	83.63	silver quality
medial globus pallidus	UBERON:0002477	83.62	gold quality
smooth muscle tissue	UBERON:0001135	83.61	gold quality
muscle of leg	UBERON:0001383	83.33	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.79

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

103 targeting ST3GAL2, 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-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6740-5P	100.00	65.64	932
HSA-MIR-33A-5P	99.99	68.62	1055
HSA-MIR-33B-5P	99.99	68.58	1062
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-433-3P	99.98	69.37	1203
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-4760-3P	99.93	70.50	2385
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-6857-5P	99.87	65.32	985
HSA-MIR-4728-5P	99.85	69.39	4718

Literature-anchored findings (GeneRIF, showing 5)

• Genomic structure, expression, and transcriptional regulation of ST3GALII. (PMID:12504121)
• ST3Gal II is a MSGb5 (stage-specific embryonic antigen-4) synthase and its increased expression level is closely related to renal carcinogenesis (PMID:12716912)
• This suggests that the C-terminal domain of ST3Gal-II depends on N-glycosylation to attain an optimum conformation for proper exit from the endoplasmic reticulum (PMID:25916169)
• Data suggest that ganglioside glycosyltransferases ST3GAL5, ST8SIA1, and B4GALNT1 are S-acylated at conserved cysteine residues located close to cytoplasmic border of their transmembrane domains; ST3Gal-II is acylated at conserved cysteine residue in N-terminal cytoplasmic tail; for B4GALNT1 and ST3Gal-II, dimer formation controls their S-acylation status. (PMID:28698248)
• Overlapping and unique substrate specificities of ST3GAL1 and 2 during hematopoietic and megakaryocytic differentiation. (PMID:35507766)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	st3gal2	ENSDARG00000112898
mus_musculus	St3gal2	ENSMUSG00000031749
rattus_norvegicus	St3gal2	ENSRNOG00000017932

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), ST6GALNAC6 (ENSG00000160408), ST6GALNAC3 (ENSG00000184005)

Protein

Protein identifiers

CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2 — Q16842 (reviewed: Q16842)

Alternative names: Gal-NAc6S, Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase, Monosialoganglioside sialyltransferase, ST3Gal II, ST3GalA.2, Sialyltransferase 4B

All UniProt accessions (1): Q16842

UniProt curated annotations — full annotation on UniProt →

Function. A beta-galactoside alpha2-3 sialyltransferase primarily involved in terminal sialylation of ganglio and globo series glycolipids. Catalyzes the transfer of sialic acid (N-acetyl-neuraminic acid; Neu5Ac) from the nucleotide sugar donor CMP-Neu5Ac onto acceptor Galbeta-(1->3)-GalNAc-terminated glycoconjugates through an alpha2-3 linkage. Sialylates GM1/GM1a, GA1/asialo-GM1 and GD1b gangliosides to form GD1a, GM1b and GT1b, respectively. Together with ST3GAL3, primarily responsible for biosynthesis of brain GD1a and GT1b that function as ligands for myelin-associated glycoprotein MAG on axons, regulating MAG expression and axonal myelin stability and regeneration. Via GT1b regulates TLR2 signaling in spinal cord microglia in response to nerve injury. Responsible for the sialylation of the pluripotent stem cell- and cancer stem cell-associated antigen SSEA3, forming SSEA4. Sialylates with low efficiency asialofetuin, presumably onto O-glycosidically linked Galbeta-(1->3)-GalNAc-O-Ser.

Subunit / interactions. Homodimer; disulfide-linked. Homodimer formation occurs in the endoplasmic reticulum.

Subcellular location. Golgi apparatus. Golgi stack membrane. Secreted.

Tissue specificity. Highly expressed in skeletal muscle and heart and to a much lesser extent in brain, placenta, liver and pancreas. Scarcely detectable in lung and kidney.

Post-translational modifications. The soluble form derives from the membrane form by proteolytic processing. N-glycosylated; necessary for proper exit from endoplasmic reticulum and trafficking to the Golgi apparatus.

Pathway. Protein modification; protein glycosylation. Glycolipid biosynthesis.

Similarity. Belongs to the glycosyltransferase 29 family.

RefSeq proteins (1): NP_008858* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR012163	Sialyl_trans	Family
IPR038578	GT29-like_sf	Homologous_superfamily
IPR051757	Beta-gal_alpha2-3_sialyltrans	Family

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.2 — beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 9 shown:

• a ganglioside GM1 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1a (d18:1(4E)) + CMP + H(+) (RHEA:18021)
• a beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl derivative + CMP-N-acetyl-beta-neuraminate = an N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl derivative + CMP + H(+) (RHEA:21616)
• a ganglioside GA1 (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GM1b (d18:1(4E)) + CMP + H(+) (RHEA:47560)
• a ganglioside GD1b (d18:1(4E)) + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1b (d18:1(4E)) + CMP + H(+) (RHEA:47572)
• a ganglioside GD1b + CMP-N-acetyl-beta-neuraminate = a ganglioside GT1b + CMP + H(+) (RHEA:48240)
• a ganglioside GA1 + CMP-N-acetyl-beta-neuraminate = a ganglioside GM1b + CMP + H(+) (RHEA:48244)
• ganglioside GM1 (d18:1(4E)/18:0) + CMP-N-acetyl-beta-neuraminate = ganglioside GD1a (18:1(4E)/18:0) + CMP + H(+) (RHEA:48248)
• a ganglioside GM1 + CMP-N-acetyl-beta-neuraminate = a ganglioside GD1a + CMP + H(+) (RHEA:48260)
• a globoside GalGb4Cer + CMP-N-acetyl-beta-neuraminate = a globoside MSGG + CMP + H(+) (RHEA:65372)

UniProt features (19 total): binding site 9, disulfide bond 3, topological domain 2, mutagenesis site 2, chain 1, glycosylation site 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q16842-F1	85.68	0.67

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 (9): 300; 309; 326; 116; 157; 180; 240; 276; 280

Disulfide bonds (3): 70–75, 72–149, 152–291

Glycosylation sites (1): 211

Mutagenesis-validated functional residues (2):

Position	Phenotype
92	has a moderate effect on n-glycosylation and sialyltransferase activity; when associated with q-211.
211	impairs n-glycosylation. impairs exit from the endoplasmic reticulum. decreases sialyltransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

30 pathways

ID	Pathway
R-HSA-2022854	Keratan sulfate biosynthesis
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-9840309	Glycosphingolipid biosynthesis
R-HSA-1430728	Metabolism
R-HSA-1630316	Glycosaminoglycan metabolism
R-HSA-1638074	Keratan sulfate/keratin metabolism
R-HSA-1643685	Disease
R-HSA-1660662	Glycosphingolipid metabolism
R-HSA-392499	Metabolism of proteins
R-HSA-428157	Sphingolipid metabolism
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-556833	Metabolism of lipids
R-HSA-5663205	Infectious disease
R-HSA-597592	Post-translational protein modification
R-HSA-71387	Metabolism of carbohydrates and carbohydrate derivatives
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: 277 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, MULLIGHAN_NPM1_SIGNATURE_3_UP, chr16q22, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, ENK_UV_RESPONSE_KERATINOCYTE_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GGGTGGRR_PAX4_03, GGAMTNNNNNTCCY_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, AACWWCAANK_UNKNOWN, GOBP_CERAMIDE_BIOSYNTHETIC_PROCESS, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, MARTINEZ_RB1_TARGETS_UP

GO Biological Process (15): ganglioside biosynthetic process (GO:0001574), globoside biosynthetic process (GO:0001576), glycosphingolipid biosynthetic process (GO:0006688), glycoprotein biosynthetic process (GO:0009101), glycolipid biosynthetic process (GO:0009247), oligosaccharide biosynthetic process (GO:0009312), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), keratan sulfate proteoglycan biosynthetic process (GO:0018146), viral protein processing (GO:0019082), sialylation (GO:0097503), obsolete protein glycosylation (GO:0006486), lipid metabolic process (GO:0006629), obsolete ganglioside biosynthetic process via lactosylceramide (GO:0010706), obsolete globoside biosynthetic process via lactosylceramide (GO:0010707), obsolete lipid glycosylation (GO:0030259)

GO Molecular Function (6): beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836), sialyltransferase activity (GO:0008373), protein homodimerization activity (GO:0042803), beta-D-galactosyl-(1->3)-N-acetyl-beta-D-galactosaminide alpha-2,3- sialyltransferase activity (GO:0047288), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): Golgi membrane (GO:0000139), extracellular region (GO:0005576), membrane (GO:0016020), Golgi cisterna membrane (GO:0032580), Golgi apparatus (GO:0005794)

Reactome top-level categories

Rollup of top-15 pathways:

Category	Pathways
Translation of Structural Proteins	2
Post-translational protein modification	2
Keratan sulfate/keratin metabolism	1
Synthesis of substrates in N-glycan biosythesis	1
Translation of Structural Proteins	1
O-linked glycosylation of mucins	1
Glycosphingolipid metabolism	1
Metabolism of carbohydrates and carbohydrate derivatives	1
Glycosaminoglycan metabolism	1
Sphingolipid metabolism	1
Metabolism of lipids	1
Asparagine N-linked glycosylation	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Metabolism	1
Disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
glycosphingolipid biosynthetic process	2
carbohydrate derivative biosynthetic process	2
sialyltransferase activity	2
cellular anatomical structure	2
ganglioside metabolic process	1
ceramide biosynthetic process	1
globoside metabolic process	1
glycosphingolipid metabolic process	1
glycolipid biosynthetic process	1
sphingolipid biosynthetic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
glycolipid metabolic process	1
lipid biosynthetic process	1
oligosaccharide metabolic process	1
carbohydrate biosynthetic process	1
protein O-linked glycosylation	1
proteoglycan biosynthetic process	1
keratan sulfate proteoglycan metabolic process	1
viral process	1
viral gene expression	1
macromolecule modification	1
primary metabolic process	1
glycosyltransferase activity	1
identical protein binding	1
protein dimerization activity	1
catalytic activity	1
transferase activity	1
Golgi apparatus	1
bounding membrane of organelle	1
organelle membrane	1
Golgi cisterna	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

802 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST3GAL2	GNB5	O14775	830
ST3GAL2	B3GALT4	O96024	757
ST3GAL2	GCNT4	Q9P109	598
ST3GAL2	NEU4	Q8WWR8	594
ST3GAL2	B4GALNT1	Q00973	592
ST3GAL2	NEU2	Q9Y3R4	591
ST3GAL2	B4GALT5	O43286	564
ST3GAL2	A4GALT	Q9NPC4	541
ST3GAL2	C1GALT1	Q9NS00	518
ST3GAL2	B4GALT6	Q9UBX8	512
ST3GAL2	UGCG	Q16739	509
ST3GAL2	NEU1	Q99519	507
ST3GAL2	NEU3	Q9UQ49	505
ST3GAL2	B3GALT5	Q9Y2C3	495
ST3GAL2	SIAE	Q9HAT2	492

IntAct

21 interactions, top by confidence:

A	B	Type	Score
IL13RA2	METTL15	psi-mi:“MI:0914”(association)	0.530
ST3GAL2	HSPA5	psi-mi:“MI:0914”(association)	0.530
FOXA3	CORO1A	psi-mi:“MI:0914”(association)	0.530
SLC31A1	C2orf72	psi-mi:“MI:0914”(association)	0.530
SLC2A2	ST3GAL2	psi-mi:“MI:0915”(physical association)	0.400
TMPRSS11B		psi-mi:“MI:0914”(association)	0.350
DPAGT1	ALOX12B	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
OPRL1	METTL15	psi-mi:“MI:0914”(association)	0.350
DGCR2	CCDC85C	psi-mi:“MI:0914”(association)	0.350
OPALIN	GPR89A	psi-mi:“MI:0914”(association)	0.350
TMPRSS11B	ADAM10	psi-mi:“MI:0914”(association)	0.350
LCTL	SUSD5	psi-mi:“MI:0914”(association)	0.350
CXCR4	ESYT2	psi-mi:“MI:0914”(association)	0.350
ST3GAL2	ENO2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (37): FKBP14 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), ASPHD2 (Affinity Capture-MS), CANX (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), HSPA5 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-RNA), ST3GAL2 (Affinity Capture-RNA), ST3GAL2 (Two-hybrid), ST3GAL2 (Affinity Capture-RNA), ST3GAL2 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS), ST3GAL2 (Affinity Capture-MS)

ESM2 similar proteins: A0PJZ3, A2XFP3, A2XFT5, A2XFT6, B8AIZ4, C7J0P3, O04536, O48684, O88829, P08037, P15291, P15535, Q02527, Q09327, Q0V7R1, Q0WV13, Q10470, Q10MK2, Q10MQ0, Q16842, Q3UHH8, Q4G148, Q5CAZ6, Q5K027, Q5MJS3, Q5SP46, Q5ZKI6, Q68G12, Q6DE37, Q6GX83, Q6H765, Q6KB58, Q701R2, Q70D51, Q810K9, Q8CID3, Q8GWT1, Q8IXL6, Q8RXE1, Q92184

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P61643, P61644, P61645, Q07977, Q16842, Q2QXM3, Q2R2B1, Q64689, Q64690, Q64692, Q6KB58, Q6ZH45, Q6ZXC9, Q701R0, Q701R3, Q701R4, Q76K27, Q7FA29, Q8VZJ0, Q92186, Q92187, Q94DD4, Q96JF0, Q9SGD2, P13721, P15907, P61130, P61131, P61943, P70277, Q02745, Q08E15, Q11200, Q11201

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	1
Likely pathogenic	0
Uncertain significance	44
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	Pathogenic

SpliceAI

1304 predictions. Top by Δscore:

Variant	Effect	Δscore
16:70381863:CTG:C	acceptor_loss	1.0000
16:70381864:T:G	acceptor_loss	1.0000
16:70382926:T:C	acceptor_loss	1.0000
16:70383184:GCTTA:G	donor_loss	1.0000
16:70383185:CTTAC:C	donor_loss	1.0000
16:70383187:TA:T	donor_loss	1.0000
16:70383188:A:AC	donor_gain	1.0000
16:70383189:C:CC	donor_gain	1.0000
16:70383189:C:CG	donor_loss	1.0000
16:70383231:AGGTG:A	acceptor_gain	1.0000
16:70383232:GGTG:G	acceptor_gain	1.0000
16:70383233:GTG:G	acceptor_gain	1.0000
16:70383234:TG:T	acceptor_gain	1.0000
16:70383236:C:CC	acceptor_gain	1.0000
16:70383238:G:C	acceptor_gain	1.0000
16:70383243:C:CT	acceptor_gain	1.0000
16:70383244:A:T	acceptor_gain	1.0000
16:70388348:AGG:A	donor_gain	1.0000
16:70388362:CTCAC:C	donor_loss	1.0000
16:70388363:TCAC:T	donor_loss	1.0000
16:70388364:CA:C	donor_loss	1.0000
16:70388365:A:AC	donor_gain	1.0000
16:70388366:C:CA	donor_gain	1.0000
16:70388366:CA:C	donor_gain	1.0000
16:70388366:CAA:C	donor_gain	1.0000
16:70388366:CAAT:C	donor_gain	1.0000
16:70388545:TC:T	acceptor_gain	1.0000
16:70388546:CC:C	acceptor_gain	1.0000
16:70388547:C:CC	acceptor_gain	1.0000
16:70394978:TCACC:T	donor_loss	1.0000

AlphaMissense

2328 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:70381766:G:C	H326D	1.000
16:70381782:G:C	F320L	1.000
16:70381782:G:T	F320L	1.000
16:70381783:A:C	F320C	1.000
16:70381784:A:G	F320L	1.000
16:70381809:C:A	W311C	1.000
16:70381809:C:G	W311C	1.000
16:70381821:C:A	W307C	1.000
16:70381821:C:G	W307C	1.000
16:70381823:A:G	W307R	1.000
16:70381823:A:T	W307R	1.000
16:70381845:G:C	F299L	1.000
16:70381845:G:T	F299L	1.000
16:70381847:A:G	F299L	1.000
16:70381849:C:T	G298E	1.000
16:70382812:C:T	C291Y	1.000
16:70388402:C:A	W226C	1.000
16:70388402:C:G	W226C	1.000
16:70388404:A:G	W226R	1.000
16:70388404:A:T	W226R	1.000
16:70388412:T:A	D223V	1.000
16:70388420:C:A	K220N	1.000
16:70388420:C:G	K220N	1.000
16:70388423:G:C	F219L	1.000
16:70388423:G:T	F219L	1.000
16:70388425:A:G	F219L	1.000
16:70388475:G:T	P202H	1.000
16:70394982:C:A	R178M	1.000
16:70395044:G:C	N157K	1.000
16:70395044:G:T	N157K	1.000

dbSNP variants (sampled 300 via entrez): RS1000039248 (16:70408034 C>T), RS1000105845 (16:70429097 C>G), RS1000149589 (16:70393667 C>G), RS1000175288 (16:70434446 A>AC), RS1000193183 (16:70403149 G>A), RS1000200577 (16:70439422 G>C), RS1000201316 (16:70393321 G>T), RS1000245636 (16:70403438 T>C), RS1000277286 (16:70398970 G>A,C), RS1000279938 (16:70434088 A>C), RS1000315313 (16:70378276 G>A,T), RS1000364875 (16:70433894 T>C,G), RS1000415674 (16:70404985 A>G,T), RS1000417501 (16:70392214 A>G), RS1000459143 (16:70427487 C>T)

Disease associations

OMIM: gene MIM:607188 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST010703_100	Brain morphology (MOSTest)	2.000000e-40
GCST010725_47	Malaria	6.000000e-07

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004346	neuroimaging 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
GSK-J4	decreases expression	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
sodium arsenite	increases expression	1
abrine	decreases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	decreases expression, increases expression	1
Arsenic	affects methylation	1
Vehicle Emissions	decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Cannabidiol	decreases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	increases expression	1
Methyl Methanesulfonate	decreases expression	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	increases expression	1
Valproic Acid	affects expression	1
Aflatoxin B1	decreases methylation	1
Palmitic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Raloxifene Hydrochloride	increases expression	1

Clinical trials (associated diseases)

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