ST8SIA4

Summary

ST8SIA4 (ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4, HGNC:10871) is a protein-coding gene on chromosome 5q21.1, encoding CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase (Q92187). Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan protein acceptor through alpha-2,8-linkages.

The protein encoded by this gene catalyzes the polycondensation of alpha-2,8-linked sialic acid required for the synthesis of polysialic acid, a modulator of the adhesive properties of neural cell adhesion molecule (NCAM1). The encoded protein, which is a member of glycosyltransferase family 29, is a type II membrane protein that may be present in the Golgi apparatus. Two transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 7903 — RefSeq curated summary.

At a glance

• GWAS associations: 10
• Clinical variants (ClinVar): 41 total
• MANE Select transcript: NM_005668

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10871
Approved symbol	ST8SIA4
Name	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4
Location	5q21.1
Locus type	gene with protein product
Status	Approved
Aliases	PST, PST1
Ensembl gene	ENSG00000113532
Ensembl biotype	protein_coding
OMIM	602547
Entrez	7903

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000231461, ENST00000451528, ENST00000507360, ENST00000523381, ENST00000881366, ENST00000881367, ENST00000956904

RefSeq mRNA: 2 — MANE Select: NM_005668 NM_005668, NM_175052

CCDS: CCDS4091, CCDS47252

Canonical transcript exons

ENST00000231461 — 5 exons

Exon	Start	End
ENSE00000862368	100902843	100903282
ENSE00000971814	100886343	100886600
ENSE00000971815	100856103	100856396
ENSE00001186110	100806933	100812129
ENSE00002098353	100895654	100895785

Expression profiles

Bgee: expression breadth ubiquitous, 236 present calls, max score 91.89.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4136 / max 748.2820, expressed in 1231 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
62776	17.2979	1204
62775	3.8157	725
62774	0.1515	72
62770	0.1418	37
62769	0.0067	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
bronchial epithelial cell	CL:0002328	91.89	gold quality
blood	UBERON:0000178	91.05	gold quality
monocyte	CL:0000576	89.85	gold quality
mononuclear cell	CL:0000842	89.22	gold quality
leukocyte	CL:0000738	89.21	gold quality
trabecular bone tissue	UBERON:0002483	87.02	gold quality
epithelium of bronchus	UBERON:0002031	83.88	gold quality
cartilage tissue	UBERON:0002418	83.39	gold quality
bronchus	UBERON:0002185	83.38	gold quality
visceral pleura	UBERON:0002401	82.48	gold quality
granulocyte	CL:0000094	82.36	gold quality
bone marrow	UBERON:0002371	82.24	gold quality
lymph node	UBERON:0000029	81.76	gold quality
amniotic fluid	UBERON:0000173	81.20	gold quality
epithelium of nasopharynx	UBERON:0001951	81.10	gold quality
bone marrow cell	CL:0002092	79.91	gold quality
placenta	UBERON:0001987	79.90	gold quality
mucosa of paranasal sinus	UBERON:0005030	79.49	gold quality
pleura	UBERON:0000977	79.21	gold quality
parietal pleura	UBERON:0002400	78.91	gold quality
spleen	UBERON:0002106	78.89	gold quality
vermiform appendix	UBERON:0001154	78.62	gold quality
cortical plate	UBERON:0005343	78.54	gold quality
colonic epithelium	UBERON:0000397	78.27	gold quality
calcaneal tendon	UBERON:0003701	78.15	gold quality
ganglionic eminence	UBERON:0004023	78.07	gold quality
jejunal mucosa	UBERON:0000399	77.87	gold quality
gall bladder	UBERON:0002110	76.96	gold quality
lower lobe of lung	UBERON:0008949	76.55	gold quality
superficial temporal artery	UBERON:0001614	76.17	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-7008	yes	222.98
E-MTAB-5061	yes	8.65
E-ENAD-27	yes	4.86
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HSF1, PAX3, SP1, TFAP2D

miRNA regulators (miRDB)

247 targeting ST8SIA4, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-9-5P	100.00	72.28	2361
HSA-LET-7A-3P	100.00	74.03	3932
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-8485	100.00	77.57	4731
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-656-3P	100.00	72.15	2788
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3925-3P	100.00	69.95	1237
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-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-371B-5P	99.99	75.34	4759

Literature-anchored findings (GeneRIF, showing 19)

• SIAT8D has a role in neural development and sialic acid synthesis on NCAM (PMID:12138100)
• Pancreatitis risk was highest in individuals with abnormalities in pancreatic duct(CFTR) and acini (PST1) indicating that PST1 is a modifier gene for CFTR-related idiopathic chronic pancreatitis. (PMID:12227654)
• The upregulation of ST8SIA4 and the donwregulation of ST8SIA2 by valproic acid in HUVEC and tumor cell lines are reported. (PMID:15710344)
• polysialyltransferase ST8Sia IV/PST recognizes specific amino acids in the first fibronectin type III repeat of the neural cell adhesion molecule (PMID:16027151)
• PSA-NCAM and ST8Sia-II/IV Expression Is Increased in Pancreatic Carcinomas (PMID:18384787)
• Amino acid substitutions in conserved sequences are critical for the protein-specific polysialylation of NCAM. (PMID:19336400)
• polysialylated NCAM persistence, up-regulated polysialyltransferase-1 mRNA and previously uncovered defective myelin-associated glycoprotein may be early pathogenetic events in adult-onset autosomal-dominant leukodystrophy (PMID:19725832)
• The ST8SiaIV/PST polybasic region plays a critical role in substrate recognition. (PMID:22184126)
• ST8SiaIV synthesized polySia selectively on a NRP2 glycoform that was characterized by the presence of sialylated core 1 and core 2 O-glycans. (PMID:23801331)
• this study indicated that sialylation involved in the development of MDR of AML cells probably through ST3GAL5 or ST8SIA4 regulating the activity of PI3K/Akt signaling and the expression of P-gp and MRP1. (PMID:24531716)
• ST8SIA4 gene is involved in the development of multidrug resistance via PI3K/Akt pathway in chronic myeloid leukemia. (PMID:25855199)
• Sequence Requirements for Neuropilin-2 Recognition by ST8SiaIV and Polysialylation of Its O-Glycans. (PMID:26884342)
• This is the first report to demonstrate a role for a glycosyltransferase in human pluripotent stem cell lineage specification. (PMID:27074314)
• Data show that miR-181c was inversely correlated with the levels of ST8SIA4 expression in chronic myelocytic leukemia (CML) cell lines and samples. (PMID:27527856)
• changes in the glycosylation patterns and sialylation levels may be useful markers of the progression of breast cancer, as well as miR-26a/26b may be widely involved in the regulation of sialylation machinery by targeting ST8SIA4. (PMID:28032858)
• The polybasic region of the polysialyltransferase ST8Sia-IV binds directly to NCAM. (PMID:28233978)
• our results demonstrate that miR-146a and miR-146b promote proliferation, migration and invasion of FTC via inhibition of ST8SIA4. (PMID:28427206)
• Different properties of polysialic acids synthesized by the polysialyltransferases ST8SIA2 and ST8SIA4 have been described. (PMID:28810663)
• Identification of a buried beta-strand as a novel disease-related motif in the human polysialyltransferases. (PMID:38103644)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	st8sia4	ENSDARG00000103600
mus_musculus	St8sia4	ENSMUSG00000040710
rattus_norvegicus	St8sia4	ENSRNOG00000019128

Paralogs (5): ST8SIA5 (ENSG00000101638), ST8SIA1 (ENSG00000111728), ST8SIA2 (ENSG00000140557), ST8SIA6 (ENSG00000148488), ST8SIA3 (ENSG00000177511)

Protein

Protein identifiers

CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase — Q92187 (reviewed: Q92187)

Alternative names: Alpha-2,8-sialyltransferase 8D, Polysialyltransferase, Polysialyltransferase-1, Sialyltransferase 8D, Sialyltransferase St8Sia IV

All UniProt accessions (2): Q92187, E5RFK3

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the transfer of a sialic acid from a CMP-linked sialic acid donor onto a terminal alpha-2,3-, alpha-2,6-, or alpha-2,8-linked sialic acid of an N-linked glycan protein acceptor through alpha-2,8-linkages. Therefore, participates in polysialic acid synthesis on various sialylated N-acetyllactosaminyl oligosaccharides, including NCAM1 N-glycans, FETUB N-glycans and AHSG. It is noteworthy that alpha-2,3-linked sialic acid is apparently a better acceptor than alpha-2,6-linked sialic acid.

Subcellular location. Golgi apparatus membrane. Secreted.

Tissue specificity. Highly expressed in fetal brain, lung and kidney and in adult heart, spleen and thymus. Present to a lesser extent in adult brain, placenta, lung, large and small intestine and peripheral blood leukocytes.

Post-translational modifications. Autopolysialylated.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the glycosyltransferase 29 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q92187-1	1	yes
Q92187-2	2

RefSeq proteins (2): NP_005659, NP_778222 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001675	Glyco_trans_29	Family
IPR012163	Sialyl_trans	Family
IPR038578	GT29-like_sf	Homologous_superfamily
IPR050943	Glycosyltr_29_Sialyltrsf	Family

Pfam: PF00777

Enzyme classification (BRENDA):

• EC 2.4.99.8 — alpha-N-acetylneuraminate alpha-2,8-sialyltransferase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)

Catalyzed reactions (Rhea), 1 shown:

• N-acetyl-alpha-D-neuraminosyl-(2->8) + CMP-N-acetyl-beta-neuraminate = N-acetyl-alpha-D-neuraminosyl-(2->8) + CMP + H(+) (RHEA:77367)

UniProt features (29 total): binding site 6, glycosylation site 5, mutagenesis site 5, topological domain 2, disulfide bond 2, sequence variant 2, helix 2, chain 1, splice variant 1, transmembrane region 1, strand 1, active site 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
5Y22	SOLUTION NMR
5Y3U	SOLUTION NMR
6AHZ	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92187-F1	86.53	0.78

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 (1): 331 (proton donor/acceptor)

Ligand- & substrate-binding residues (6): 301; 147; 170; 279; 280; 281

Disulfide bonds (2): 142–292, 156–356

Glycosylation sites (5): 50, 74, 119, 204, 219

Mutagenesis-validated functional residues (5):

Position	Phenotype
142	loss of ncam1 polysialylation activity. loss of autopolysialylation. loss of ncam1 polysialylation activity; when associ
156	loss of ncam1 polysialylation activity. loss of autopolysialylation. loss of ncam1 polysialylation activity; when associ
169	reduces ncam1 polysialylation activity. loss of autopolysialylation.
292	loss of ncam1 polysialylation activity. loss of autopolysialylation. loss of ncam1 polysialylation activity; when associ
356	loss of ncam1 polysialylation activity. loss of autopolysialylation. loss of ncam1 polysialylation activity; when associ

Function

Pathways and Gene Ontology

Reactome pathways

11 pathways

ID	Pathway
R-HSA-4085001	Sialic acid metabolism
R-HSA-419037	NCAM1 interactions
R-HSA-1266738	Developmental Biology
R-HSA-375165	NCAM signaling for neurite out-growth
R-HSA-392499	Metabolism of proteins
R-HSA-422475	Axon guidance
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-597592	Post-translational protein modification
R-HSA-9675108	Nervous system development

MSigDB gene sets: 325 (showing top): GSE45365_NK_CELL_VS_BCELL_UP, GOBP_OLIGOSACCHARIDE_METABOLIC_PROCESS, GOBP_N_GLYCAN_PROCESSING, HORIUCHI_WTAP_TARGETS_DN, BENPORATH_ES_WITH_H3K27ME3, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_N_LINKED_GLYCOSYLATION, SP3_Q3, GOZGIT_ESR1_TARGETS_DN, REACTOME_NCAM_SIGNALING_FOR_NEURITE_OUT_GROWTH, TATTATA_MIR374, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, CROONQUIST_NRAS_SIGNALING_UP, CAGCTG_AP4_Q5, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS

GO Biological Process (8): ganglioside biosynthetic process (GO:0001574), N-glycan processing (GO:0006491), nervous system development (GO:0007399), glycoprotein biosynthetic process (GO:0009101), oligosaccharide metabolic process (GO:0009311), protein modification process (GO:0036211), sialylation (GO:0097503), obsolete protein glycosylation (GO:0006486)

GO Molecular Function (5): alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828), sialyltransferase activity (GO:0008373), sialic acid binding (GO:0033691), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): Golgi membrane (GO:0000139), extracellular region (GO:0005576), Golgi apparatus (GO:0005794), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-9 pathways:

Category	Pathways
Synthesis of substrates in N-glycan biosythesis	1
NCAM signaling for neurite out-growth	1
Axon guidance	1
Nervous system development	1
Asparagine N-linked glycosylation	1
Post-translational protein modification	1
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	1
Metabolism of proteins	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
macromolecule modification	2
cellular anatomical structure	2
ganglioside metabolic process	1
glycosphingolipid biosynthetic process	1
ceramide biosynthetic process	1
protein N-linked glycosylation	1
glycoprotein biosynthetic process	1
system development	1
macromolecule biosynthetic process	1
glycoprotein metabolic process	1
carbohydrate derivative biosynthetic process	1
carbohydrate metabolic process	1
protein metabolic process	1
sialyltransferase activity	1
glycosyltransferase activity	1
carboxylic acid binding	1
carbohydrate derivative binding	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

Protein interactions and networks

STRING

1030 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ST8SIA4	NCAM1	P13591	811
ST8SIA4	ATP1A2	P50993	588
ST8SIA4	NRP2	O60462	545
ST8SIA4	SLC35A1	P78382	531
ST8SIA4	NANS	Q9NR45	528
ST8SIA4	FAM174A	Q8TBP5	513
ST8SIA4	SERPINC1	P01008	497
ST8SIA4	ST6GALNAC1	Q9NSC7	460
ST8SIA4	SIAE	Q9HAT2	449
ST8SIA4	ATAD1	Q8NBU5	437
ST8SIA4	GNE	Q9Y223	420
ST8SIA4	NEU4	Q8WWR8	409
ST8SIA4	GRIN2A	Q12879	408
ST8SIA4	EOGT	Q5NDL2	401
ST8SIA4	ZNF410	Q86VK4	400

IntAct

16 interactions, top by confidence:

A	B	Type	Score
FBXO2	TMEM131L	psi-mi:“MI:0914”(association)	0.530
SCGB2A2	GXYLT2	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	NRP1	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
	TOR1B	psi-mi:“MI:0914”(association)	0.350
PDGFRA	GXYLT2	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	FAM234B	psi-mi:“MI:0914”(association)	0.350
SCGB2A2	RTL8C	psi-mi:“MI:0914”(association)	0.350
NRSN1	FAM171A2	psi-mi:“MI:0914”(association)	0.350
C1QTNF7	AGRN	psi-mi:“MI:0914”(association)	0.350
ST8SIA2	HS3ST1	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	S100A2	psi-mi:“MI:0914”(association)	0.350
ST8SIA4	SERPINC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (135): ST8SIA4 (Affinity Capture-MS), DNASE1L1 (Affinity Capture-MS), SUSD1 (Affinity Capture-MS), ITGA7 (Affinity Capture-MS), TGFBR3 (Affinity Capture-MS), ST8SIA4 (Affinity Capture-MS), ST8SIA4 (Affinity Capture-MS), ADAMTS2 (Affinity Capture-MS), RNASEL (Affinity Capture-MS), SEMA4D (Affinity Capture-MS), PLXNA2 (Affinity Capture-MS), GALNT18 (Affinity Capture-MS), STK39 (Affinity Capture-MS), CNTNAP3 (Affinity Capture-MS), FAM69A (Affinity Capture-MS)

ESM2 similar proteins: A2AUQ7, A5GFW8, A6NG13, A7RX69, D3ZNQ3, E9PU17, E9PX95, E9Q649, G3V9Q9, L7YAI7, O15466, O43173, P0DN25, P38566, P38567, P48794, P61644, P61645, P61646, P70126, P97402, Q02742, Q09363, Q11068, Q17678, Q21389, Q2NKH9, Q2YDM8, Q4R5T7, Q4V8F8, Q60V90, Q62803, Q64689, Q64690, Q64692, Q6ZNI0, Q6ZXC8, Q6ZXC9, Q71SG7, Q7Z4J2

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, Q16842, Q2R2B1, Q6KB58, Q6ZH45, Q8VZJ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	30
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1232 predictions. Top by Δscore:

Variant	Effect	Δscore
5:100886338:CTCAC:C	donor_loss	1.0000
5:100886342:C:CA	donor_loss	1.0000
5:100886342:CCTTA:C	donor_gain	1.0000
5:100886607:T:C	acceptor_gain	1.0000
5:100886607:T:TC	acceptor_gain	1.0000
5:100812130:C:CC	acceptor_gain	0.9900
5:100842346:T:TA	donor_gain	0.9900
5:100849352:T:TA	donor_gain	0.9900
5:100856101:AC:A	donor_gain	0.9900
5:100856102:CC:C	donor_gain	0.9900
5:100856102:CCCT:C	donor_gain	0.9900
5:100863836:AT:A	donor_gain	0.9900
5:100863836:ATC:A	donor_gain	0.9900
5:100886428:TAA:T	donor_gain	0.9900
5:100886429:AAA:A	donor_gain	0.9900
5:100886601:C:CC	acceptor_gain	0.9900
5:100886602:T:A	acceptor_loss	0.9900
5:100895646:AAACT:A	donor_loss	0.9900
5:100895648:ACT:A	donor_loss	0.9900
5:100895649:CTCAC:C	donor_loss	0.9900
5:100895650:TCACC:T	donor_loss	0.9900
5:100895651:CA:C	donor_loss	0.9900
5:100895781:CATCT:C	acceptor_gain	0.9900
5:100895784:CT:C	acceptor_gain	0.9900
5:100895784:CTCTG:C	acceptor_loss	0.9900
5:100895786:C:CC	acceptor_gain	0.9900
5:100895786:CTGA:C	acceptor_loss	0.9900
5:100895787:T:G	acceptor_loss	0.9900
5:100897212:C:A	donor_gain	0.9900
5:100902838:TTTA:T	donor_loss	0.9900

AlphaMissense

2359 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:100811929:A:G	M333T	1.000
5:100811982:A:C	H315Q	1.000
5:100811982:A:T	H315Q	1.000
5:100811984:G:C	H315D	1.000
5:100811992:A:T	V312D	1.000
5:100812027:G:C	F300L	1.000
5:100812027:G:T	F300L	1.000
5:100812029:A:G	F300L	1.000
5:100812031:C:A	G299V	1.000
5:100812031:C:T	G299E	1.000
5:100812032:C:G	G299R	1.000
5:100812032:C:T	G299R	1.000
5:100812037:A:G	L297P	1.000
5:100812051:A:C	C292W	1.000
5:100812052:C:G	C292S	1.000
5:100812052:C:T	C292Y	1.000
5:100812053:A:G	C292R	1.000
5:100812053:A:T	C292S	1.000
5:100812082:A:G	L282P	1.000
5:100812085:C:T	G281D	1.000
5:100812086:C:G	G281R	1.000
5:100812088:G:A	T280I	1.000
5:100812090:G:C	S279R	1.000
5:100812090:G:T	S279R	1.000
5:100812092:T:G	S279R	1.000
5:100812123:C:A	W268C	1.000
5:100812123:C:G	W268C	1.000
5:100812125:A:G	W268R	1.000
5:100812125:A:T	W268R	1.000
5:100856230:A:G	W224R	1.000

dbSNP variants (sampled 300 via entrez): RS1000006753 (5:100860670 G>A,T), RS1000043658 (5:100870853 A>C), RS1000068213 (5:100833350 T>G), RS1000091414 (5:100899084 A>G,T), RS1000109062 (5:100863880 C>T), RS1000113324 (5:100819165 G>A), RS1000114274 (5:100817527 T>C), RS1000132876 (5:100833932 A>G), RS1000141642 (5:100880105 C>A), RS1000187819 (5:100807937 C>T), RS1000217653 (5:100860148 T>G), RS1000263701 (5:100807260 G>A,T), RS1000272775 (5:100864296 C>A,T), RS1000299219 (5:100826991 A>G), RS1000308033 (5:100820894 G>A,T)

Disease associations

OMIM: gene MIM:602547 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

10 associations (top):

Study	Trait	p-value
GCST002431_9	Response to radiotherapy in cancer (late toxicity)	7.000000e-07
GCST005752_177	Systemic lupus erythematosus	4.000000e-09
GCST005831_2	Systemic lupus erythematosus	5.000000e-08
GCST007400_62	Systemic lupus erythematosus	2.000000e-06
GCST008161_60	Waist circumference adjusted for body mass index	1.000000e-06
GCST011492_3	Systemic lupus erythematosus	2.000000e-06
GCST011493_6	Systemic lupus erythematosus	8.000000e-10
GCST011956_88	Systemic lupus erythematosus	9.000000e-10
GCST90002388_317	Lymphocyte count	4.000000e-10
GCST90002407_460	White blood cell count	5.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0007789	BMI-adjusted waist circumference
EFO:0004587	lymphocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression, decreases methylation	7
Estradiol	affects cotreatment, increases expression, decreases expression	3
methylmercuric chloride	increases expression	2
arsenite	affects binding, increases reaction, increases methylation	2
mercuric bromide	increases expression, affects cotreatment	2
Resveratrol	affects cotreatment, decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance, increases expression	2
Nickel	decreases expression, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tretinoin	decreases expression, increases expression	2
triphenyl phosphate	affects expression	1
titanium dioxide	decreases expression, increases methylation	1
trichostatin A	increases expression	1
afimoxifene	decreases expression, decreases reaction	1
butyraldehyde	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
pentabromodiphenyl ether	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
abrine	decreases expression	1
2,2’,4,4’-tetrabromodiphenyl ether	decreases expression	1
dorsomorphin	affects cotreatment, increases expression	1
NSC 689534	affects binding, increases expression	1
Arsenic Trioxide	decreases expression	1
Vorinostat	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	decreases expression	1
Copper	affects binding, increases expression	1
Coumestrol	decreases expression, affects cotreatment	1
Estrogens	decreases expression, decreases reaction	1

Clinical trials (associated diseases)

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