ST6GALNAC2

Summary

ST6GALNAC2 (ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2, HGNC:10867) is a protein-coding gene on chromosome 17q25.1, encoding Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 (Q9UJ37). Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins.

ST6GALNAC2 belongs to a family of sialyltransferases that add sialic acids to the nonreducing ends of glycoconjugates. At the cell surface, these modifications have roles in cell-cell and cell-substrate interactions, bacterial adhesion, and protein targeting (Samyn-Petit et al., 2000 [PubMed 10742600]).

Source: NCBI Gene 10610 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_006456

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10867
Approved symbol	ST6GALNAC2
Name	ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	ST6GalNAII, STHM
Ensembl gene	ENSG00000070731
Ensembl biotype	protein_coding
OMIM	610137
Entrez	10610

Gene structure

Transcript identifiers

Ensembl transcripts: 13 — 6 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000225276, ENST00000585390, ENST00000585736, ENST00000586520, ENST00000588005, ENST00000588120, ENST00000588920, ENST00000592508, ENST00000592979, ENST00000909969, ENST00000909970, ENST00000943098, ENST00000943099

RefSeq mRNA: 1 — MANE Select: NM_006456 NM_006456

CCDS: CCDS11747

Canonical transcript exons

ENST00000225276 — 9 exons

Exon	Start	End
ENSE00000745312	76570565	76570668
ENSE00000745314	76568713	76568796
ENSE00000745319	76565377	76566271
ENSE00002761073	76585684	76585860
ENSE00003497263	76578756	76578816
ENSE00003529055	76572637	76572775
ENSE00003570059	76574365	76574539
ENSE00003677900	76573195	76573363
ENSE00003693252	76567453	76567552

Expression profiles

Bgee: expression breadth ubiquitous, 140 present calls, max score 97.48.

FANTOM5 (CAGE): breadth broad, TPM avg 10.2260 / max 166.7923, expressed in 836 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168250	6.6110	661
168253	1.4818	417
168249	1.2150	214
168254	0.2878	165
168257	0.2033	93
168251	0.1570	103
168255	0.0783	28
168252	0.0663	38
168256	0.0568	20
168258	0.0491	22

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right uterine tube	UBERON:0001302	97.48	gold quality
tibial nerve	UBERON:0001323	97.48	gold quality
right testis	UBERON:0004534	96.59	gold quality
left testis	UBERON:0004533	96.36	gold quality
sural nerve	UBERON:0015488	96.21	gold quality
testis	UBERON:0000473	95.82	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.66	gold quality
skin of abdomen	UBERON:0001416	92.94	gold quality
zone of skin	UBERON:0000014	91.83	gold quality
blood	UBERON:0000178	91.16	gold quality
skin of leg	UBERON:0001511	90.97	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.60	gold quality
esophagus mucosa	UBERON:0002469	88.84	gold quality
lower esophagus mucosa	UBERON:0035834	87.83	gold quality
right lobe of thyroid gland	UBERON:0001119	87.81	gold quality
right lung	UBERON:0002167	87.79	gold quality
fallopian tube	UBERON:0003889	87.78	gold quality
gastrocnemius	UBERON:0001388	87.70	gold quality
muscle of leg	UBERON:0001383	87.59	gold quality
skeletal muscle organ	UBERON:0014892	87.57	gold quality
hindlimb stylopod muscle	UBERON:0004252	87.43	gold quality
thyroid gland	UBERON:0002046	87.37	gold quality
vagina	UBERON:0000996	87.33	gold quality
left lobe of thyroid gland	UBERON:0001120	87.22	gold quality
skeletal muscle tissue	UBERON:0001134	86.96	gold quality
minor salivary gland	UBERON:0001830	86.06	gold quality
saliva-secreting gland	UBERON:0001044	85.60	gold quality
esophagus	UBERON:0001043	85.49	gold quality
muscle layer of sigmoid colon	UBERON:0035805	84.70	gold quality
endocervix	UBERON:0000458	84.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

21 targeting ST6GALNAC2, 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-548AT-5P	99.96	70.83	2666
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-4498	99.47	67.42	2360
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-6809-5P	99.13	68.45	1223
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-6894-5P	98.70	63.78	809
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-5088-5P	97.97	64.28	487
HSA-MIR-96-3P	97.47	68.03	839
HSA-MIR-1289	97.46	65.37	655
HSA-MIR-6802-3P	97.29	65.42	613
HSA-MIR-4793-5P	96.88	65.90	872
HSA-MIR-4701-5P	96.45	68.41	1121
HSA-MIR-588	96.45	68.36	1127
HSA-MIR-554	95.20	66.98	341
HSA-MIR-6790-3P	88.15	62.55	113

Literature-anchored findings (GeneRIF, showing 12)

• Expression of the ST6-GalNAcII gene and activity of the CMP-NeuAc:GalNAc-IgA1 alpha2,6-sialyltransferase were higher in immunoglobulinA1-producing cell lines. (PMID:17418236)
• the ADG haplotype in the ST6GALNAC2 gene is a functional regulatory variant that may contribute to the genetic susceptibility in a subset of patients in whom the desialylation of IgA1 molecules was the main causative pathogenesis of IgAN (PMID:17480010)
• reduced sialylation of serum IgA1 may result from decreased expression of ST6GALNAC2. (PMID:19170967)
• potential genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgA nephropathy (PMID:19357720)
• ST6GalNAc2 is a novel enzyme that regulates leukocyte adhesion under fluid shear (PMID:23548905)
• Il-6 and Il-4 reduced galactosylation of the O-glycan substrate directly via decreased expression of the galactosyltransferase C1GalT1 and, indirectly, via increased expression of the sialyltransferase ST6GalNAc-II (PMID:24398680)
• Results identified the sialyltransferase ST6GalNAc2 as a novel breast cancer metastasis suppressor. (PMID:24520024)
• High expression level of ST6GalNAcII is associated with invasive phenotype of breast cancer. (PMID:24756995)
• Results provide evidence that ST6GalNAcII activated the invasion in follicular thyroid cancer cells through regulating the activity of PI3K/Akt pathway. (PMID:26820593)
• Study provides evidence that mutations in B3GNT2, B4GALT2, and ST6GALNAC2 underlie aberrant glycosylation, and contribute to the pathogenesis of molecular subsets of colon and other gastrointestinal malignancies. (PMID:27004849)
• MicroRNAs miR-135b and miR-182 may reverse the resistance to 5-fluorouracil (5-FU) in colorectal cancer (CRC) cells by targeting ST6GALNAC2 via PI3K/AKT pathway, which render potential chemotherapy targets for the treatment of CRC. (PMID:28767179)
• miR-182/-135b/ST6GALNAC2/PI3K/AKT axis could function as regulator of progression in colorectal cancer (PMID:29030743)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
		ENSDARG00000101405
mus_musculus	St6galnac2	ENSMUSG00000057286
rattus_norvegicus	St6galnac2	ENSRNOG00000012083

Paralogs (14): ST3GAL1 (ENSG00000008513), ST3GAL6 (ENSG00000064225), ST6GALNAC1 (ENSG00000070526), ST6GAL1 (ENSG00000073849), ST3GAL4 (ENSG00000110080), ST3GAL5 (ENSG00000115525), ST6GALNAC5 (ENSG00000117069), C20orf173 (ENSG00000125975), ST3GAL3 (ENSG00000126091), ST6GALNAC4 (ENSG00000136840), ST6GAL2 (ENSG00000144057), ST3GAL2 (ENSG00000157350), ST6GALNAC6 (ENSG00000160408), ST6GALNAC3 (ENSG00000184005)

Protein

Protein identifiers

Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 — Q9UJ37 (reviewed: Q9UJ37)

Alternative names: GalNAc alpha-2,6-sialyltransferase II, ST6GalNAc II, SThM, Sialyltransferase 7B

All UniProt accessions (5): Q9UJ37, K7EIW2, K7EKT8, K7EMI2, K7EMM1

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of N-acetylneuraminyl groups onto glycan chains in glycoproteins. Conjugates sialic acid with an alpha-2-6 linkage to N-acetylgalactosamine (GalNAc) glycan chains linked to serine or threonine in glycoproteins. Sialylates alphaGalNAc- and Galbeta1->3GalNAc-O-Ser/Thr epitopes also known as Tn and T antigens.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Expressed in skeletal muscle, heart, kidney, placenta, lung and leukocytes.

Pathway. Protein modification; protein glycosylation.

Miscellaneous. Aberrant O-galactosylation of IgA1 molecules plays a role in the development and progression of IgA nephropathy (IgAN). Genetic interactions of C1GALT1 and ST6GALNAC2 variants influence IgA1 O-glycosylation, disease predisposition, and disease severity, and may contribute to the polygenic nature of IgAN.

Similarity. Belongs to the glycosyltransferase 29 family.

RefSeq proteins (1): NP_006447* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR012163	Sialyl_trans	Family
IPR038578	GT29-like_sf	Homologous_superfamily

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.3 — alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 3 shown:

• a beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl derivative + CMP-N-acetyl-beta-neuraminate = a beta-D-galactosyl-(1->3)-[N-acetyl-alpha-neuraminyl-(2->6)]-N-acetyl-alpha-D-galactosaminyl derivative + CMP + H(+) (RHEA:11136)
• a 3-O-[N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + CMP-N-acetyl-beta-neuraminate = a 3-O-[N-acetyl-alpha-neuraminosyl-(2->6)-N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[protein] + CMP + H(+) (RHEA:81643)
• a 3-O-[N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->3)-N-acetyl-alpha-D-galactosaminyl]-L-threonyl-[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:81659)

UniProt features (43 total): helix 17, strand 7, turn 5, binding site 4, glycosylation site 3, topological domain 2, disulfide bond 2, chain 1, sequence conflict 1, transmembrane region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
6APL	X-RAY DIFFRACTION	2.35
6APJ	X-RAY DIFFRACTION	3.1

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UJ37-F1	85.87	0.74

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 (4): 156; 179; 304; 336

Disulfide bonds (2): 66–148, 151–317

Glycosylation sites (3): 161, 85, 130

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: 166 (showing top): KOBAYASHI_EGFR_SIGNALING_24HR_UP, MODULE_493, KYNG_DNA_DAMAGE_DN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, WANG_ESOPHAGUS_CANCER_VS_NORMAL_DN, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN, MODULE_113, LIU_CMYB_TARGETS_UP, BREDEMEYER_RAG_SIGNALING_NOT_VIA_ATM_UP, CERVERA_SDHB_TARGETS_1_UP, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION_VIA_N_ACETYL_GALACTOSAMINE, GOBP_PROTEIN_O_LINKED_GLYCOSYLATION, GOBP_SIALYLATION, GOBP_GLYCOPROTEIN_METABOLIC_PROCESS

GO Biological Process (6): protein O-linked glycosylation (GO:0006493), glycoprotein biosynthetic process (GO:0009101), protein O-linked glycosylation via N-acetylgalactosamine (GO:0016266), viral protein processing (GO:0019082), protein sialylation (GO:1990743), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (4): alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity (GO:0001665), sialyltransferase activity (GO:0008373), 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
glycoprotein biosynthetic process	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
protein O-linked glycosylation	1
viral process	1
viral gene expression	1
protein modification process	1
sialylation	1
sialyltransferase activity	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

574 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST6GALNAC2	EEF1A2	P54266	890
ST6GALNAC2	AHSG	P02765	825
ST6GALNAC2	C1GALT1	Q9NS00	737
ST6GALNAC2	C1GALT1C1	Q96EU7	720
ST6GALNAC2	GCNT1	Q02742	592
ST6GALNAC2	MUC1	P13931	561
ST6GALNAC2	ST6GALNAC6	Q969X2	558
ST6GALNAC2	ST6GALNAC4	Q9H4F1	518
ST6GALNAC2	ST6GALNAC3	Q8NDV1	480
ST6GALNAC2	NEU2	Q9Y3R4	433
ST6GALNAC2	B3GNT6	Q6ZMB0	432
ST6GALNAC2	GALNT14	Q96FL9	422
ST6GALNAC2	SIGLEC12	Q96PQ1	418
ST6GALNAC2	SIGLEC10	Q96LC7	411
ST6GALNAC2	SIGLEC14	Q08ET2	410

IntAct

2 interactions, top by confidence:

A	B	Type	Score
SMAD3	ST6GALNAC2	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (4): ST6GALNAC2 (Synthetic Lethality), ST6GALNAC2 (Affinity Capture-RNA), ST6GALNAC2 (Positive Genetic), ST6GALNAC2 (Two-hybrid)

ESM2 similar proteins: A2A699, A2BD09, A5D7T4, A8MVW0, B0BN44, O77681, O88829, P0CG36, P0CG37, P15907, P51693, P59383, P61132, P70277, P97325, Q03157, Q07105, Q11203, Q3UPI1, Q3UY90, Q5K027, Q5QQ37, Q64685, Q66NC0, Q68BL7, Q6P7B4, Q6UWH4, Q701R2, Q701R3, Q701R4, Q70D51, Q766D5, Q76K27, Q76KP1, Q80WV3, Q866Y3, Q86VZ4, Q8BHP7, Q8CB67, Q8VCS0

Diamond homologs: A2WX64, A2XVC2, A2ZI41, A5D7T4, O35696, O43173, P61132, P61643, P61644, P61645, P97325, Q02734, Q07977, Q11203, Q2QXM3, Q5K027, Q5QQ37, Q64689, Q64690, Q64692, Q6ZXC9, Q701R0, Q701R1, Q701R2, Q701R3, Q701R4, Q76K27, Q7FA29, Q92183, Q92186, Q92187, Q94DD4, Q96JF0, Q9SGD2, Q9UJ37, P13721, P15907, P61130, P61131, P61943

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	59
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2164 predictions. Top by Δscore:

Variant	Effect	Δscore
17:76567549:GAAC:G	acceptor_gain	1.0000
17:76567551:AC:A	acceptor_gain	1.0000
17:76567551:ACC:A	acceptor_loss	1.0000
17:76567552:CC:C	acceptor_gain	1.0000
17:76567553:C:CC	acceptor_gain	1.0000
17:76567553:C:G	acceptor_loss	1.0000
17:76567554:T:A	acceptor_loss	1.0000
17:76568842:T:TC	acceptor_gain	1.0000
17:76570559:GCTCA:G	donor_loss	1.0000
17:76570560:CTCAC:C	donor_loss	1.0000
17:76570561:TCA:T	donor_loss	1.0000
17:76570562:CA:C	donor_loss	1.0000
17:76570563:A:C	donor_loss	1.0000
17:76570564:C:T	donor_loss	1.0000
17:76570667:TCCTG:T	acceptor_loss	1.0000
17:76570668:CCT:C	acceptor_loss	1.0000
17:76570669:C:CC	acceptor_gain	1.0000
17:76572631:CCTCA:C	donor_loss	1.0000
17:76572632:CTCA:C	donor_loss	1.0000
17:76572633:TCA:T	donor_loss	1.0000
17:76572634:CA:C	donor_loss	1.0000
17:76572636:C:CT	donor_loss	1.0000
17:76572771:TGAGT:T	acceptor_gain	1.0000
17:76572772:GAGT:G	acceptor_gain	1.0000
17:76572774:GT:G	acceptor_gain	1.0000
17:76572775:TCT:T	acceptor_loss	1.0000
17:76572776:C:CC	acceptor_gain	1.0000
17:76572777:T:G	acceptor_loss	1.0000
17:76573191:ATAC:A	donor_loss	1.0000
17:76573193:ACCT:A	donor_loss	1.0000

AlphaMissense

2424 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:76567498:A:C	S304R	0.994
17:76567498:A:T	S304R	0.994
17:76567500:T:G	S304R	0.994
17:76566254:G:C	F325L	0.993
17:76566254:G:T	F325L	0.993
17:76566256:A:G	F325L	0.993
17:76572709:G:C	F199L	0.991
17:76572709:G:T	F199L	0.991
17:76572711:A:G	F199L	0.991
17:76566230:A:C	F333L	0.989
17:76566230:A:T	F333L	0.989
17:76566232:A:G	F333L	0.989
17:76566255:A:G	F325S	0.989
17:76566151:A:G	W360R	0.988
17:76566151:A:T	W360R	0.988
17:76566264:G:T	A322D	0.988
17:76566161:T:A	E356D	0.987
17:76566161:T:G	E356D	0.987
17:76566178:G:C	H351D	0.987
17:76572769:A:C	N179K	0.987
17:76572769:A:T	N179K	0.987
17:76573195:C:G	R177T	0.987
17:76573198:A:G	F176S	0.987
17:76573257:G:C	N156K	0.987
17:76573257:G:T	N156K	0.987
17:76566220:A:C	Y337D	0.986
17:76572734:C:A	G191V	0.986
17:76567472:G:T	A313D	0.985
17:76572658:G:C	F216L	0.985
17:76572658:G:T	F216L	0.985

dbSNP variants (sampled 300 via entrez): RS1000031746 (17:76566938 T>G), RS1000093147 (17:76586256 C>G), RS1000111407 (17:76571112 T>C), RS1000167981 (17:76584253 C>G,T), RS1000392070 (17:76577060 T>C), RS1000394815 (17:76577979 T>C), RS1000676110 (17:76576588 T>C), RS1000740438 (17:76576709 G>A), RS1000789908 (17:76582789 G>T), RS1001414386 (17:76571947 A>G), RS1001669870 (17:76571503 A>G), RS1001917336 (17:76583035 G>A), RS1001942638 (17:76566895 A>G), RS1002032014 (17:76582813 C>T), RS1002254805 (17:76577194 G>A,C)

Disease associations

OMIM: gene MIM:610137 | 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
GCST012176_1	Colorectal cancer	1.000000e-06

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases expression	3
Valproic Acid	increases expression	3
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
pirinixic acid	affects binding, decreases expression, increases activity	1
trichostatin A	increases expression	1
sodium arsenite	affects methylation	1
butyraldehyde	decreases expression	1
tobacco tar	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
pentanal	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
incobotulinumtoxinA	increases expression	1
NSC 689534	increases expression	1
Sunitinib	decreases expression	1
Panobinostat	affects cotreatment, increases expression	1
Cadmium	increases expression	1
Calcitriol	increases expression	1
Doxorubicin	increases expression	1
Estradiol	affects cotreatment, decreases expression	1
Etoposide	affects response to substance	1
Lead	affects methylation	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Silicon Dioxide	decreases expression	1
Smoke	decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_8635	VACO 451	Cancer cell line	Male
CVCL_JA11	VACO 915	Cancer cell line	Female

Clinical trials (associated diseases)

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