TPST2

Summary

TPST2 (tyrosylprotein sulfotransferase 2, HGNC:12021) is a protein-coding gene on chromosome 22q12.1, encoding Protein-tyrosine sulfotransferase 2 (O60704). Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3’-phosphoadenylyl sulfate (PAPS) as cosubstrate.

The protein encoded by this gene catalyzes the O-sulfation of tyrosine residues within acidic regions of proteins. The encoded protein is a type II integral membrane protein found in the Golgi body. Alternative splicing produces multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 8459 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 61 total
• Druggable target: yes
• MANE Select transcript: NM_003595

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12021
Approved symbol	TPST2
Name	tyrosylprotein sulfotransferase 2
Location	22q12.1
Locus type	gene with protein product
Status	Approved
Aliases	TANGO13B
Ensembl gene	ENSG00000128294
Ensembl biotype	protein_coding
OMIM	603126
Entrez	8459

Gene structure

Transcript identifiers

Ensembl transcripts: 57 — 57 protein_coding

ENST00000338754, ENST00000398110, ENST00000403880, ENST00000440953, ENST00000442495, ENST00000445720, ENST00000450022, ENST00000453117, ENST00000454778, ENST00000910410, ENST00000910411, ENST00000910412, ENST00000910413, ENST00000910414, ENST00000910415, ENST00000910416, ENST00000910417, ENST00000910418, ENST00000910419, ENST00000910420, ENST00000910421, ENST00000910422, ENST00000910423, ENST00000910424, ENST00000910425, ENST00000910426, ENST00000910427, ENST00000910428, ENST00000910429, ENST00000910430, ENST00000910431, ENST00000910432, ENST00000910433, ENST00000910434, ENST00000910435, ENST00000910436, ENST00000921142, ENST00000921143, ENST00000921144, ENST00000921145, ENST00000921146, ENST00000921147, ENST00000921148, ENST00000921149, ENST00000921150, ENST00000921151, ENST00000921152, ENST00000940994, ENST00000940995, ENST00000940996, ENST00000940997, ENST00000940998, ENST00000940999, ENST00000941000, ENST00000941001, ENST00000941002, ENST00000941003

RefSeq mRNA: 4 — MANE Select: NM_003595 NM_001008566, NM_001362922, NM_001362923, NM_003595

CCDS: CCDS13839

Canonical transcript exons

ENST00000338754 — 7 exons

Exon	Start	End
ENSE00001351932	26544604	26544675
ENSE00001643123	26536288	26536486
ENSE00001670168	26528214	26528262
ENSE00001744184	26532695	26532745
ENSE00001823353	26590053	26590132
ENSE00002197957	26540789	26541718
ENSE00002607234	26521996	26526267

Expression profiles

Bgee: expression breadth ubiquitous, 259 present calls, max score 99.10.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.7173 / max 855.0409, expressed in 1805 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193431	20.1304	1805
193429	0.3507	24
193428	0.1404	6
193430	0.0959	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	99.10	gold quality
buccal mucosa cell	CL:0002336	97.16	gold quality
corpus epididymis	UBERON:0004359	97.11	gold quality
granulocyte	CL:0000094	96.39	gold quality
blood	UBERON:0000178	95.41	gold quality
right lung	UBERON:0002167	94.98	gold quality
right lobe of liver	UBERON:0001114	93.94	gold quality
leukocyte	CL:0000738	93.84	gold quality
endothelial cell	CL:0000115	93.74	gold quality
monocyte	CL:0000576	93.74	gold quality
mononuclear cell	CL:0000842	93.72	gold quality
liver	UBERON:0002107	92.90	gold quality
pancreas	UBERON:0001264	92.52	gold quality
upper lobe of left lung	UBERON:0008952	92.46	gold quality
upper lobe of lung	UBERON:0008948	92.21	gold quality
left lobe of thyroid gland	UBERON:0001120	90.84	gold quality
thyroid gland	UBERON:0002046	90.83	gold quality
right adrenal gland	UBERON:0001233	90.55	gold quality
right adrenal gland cortex	UBERON:0035827	90.49	gold quality
right lobe of thyroid gland	UBERON:0001119	90.48	gold quality
periodontal ligament	UBERON:0008266	90.14	gold quality
left adrenal gland	UBERON:0001234	90.07	gold quality
seminal vesicle	UBERON:0000998	89.95	gold quality
spleen	UBERON:0002106	89.93	gold quality
stromal cell of endometrium	CL:0002255	89.86	gold quality
gastrocnemius	UBERON:0001388	89.76	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.57	gold quality
left adrenal gland cortex	UBERON:0035825	89.49	gold quality
placenta	UBERON:0001987	89.37	gold quality
visceral pleura	UBERON:0002401	89.26	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-122	yes	40.49
E-CURD-112	yes	35.41
E-GEOD-81547	yes	22.69
E-MTAB-5061	yes	20.12
E-HCAD-10	yes	16.51
E-MTAB-9067	yes	12.53
E-HCAD-1	yes	5.36
E-MTAB-6386	no	1564.35
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting TPST2, 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-12118	100.00	65.88	1270
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-3059-5P	99.70	69.93	2491
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4452	99.50	68.45	1493
HSA-MIR-942-5P	99.41	68.40	1977
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-520A-5P	99.35	66.72	1632
HSA-MIR-525-5P	99.35	66.85	1615
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-3973	99.20	69.19	1990
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-198	98.70	67.32	920
HSA-MIR-496	98.66	69.80	931
HSA-MIR-6780A-3P	98.42	67.49	1518
HSA-MIR-6831-5P	98.26	67.20	990
HSA-MIR-6072	98.00	66.47	804
HSA-MIR-376A-5P	97.70	65.61	863
HSA-MIR-3927-3P	97.68	66.76	892
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-4436B-5P	96.71	68.37	1346

Literature-anchored findings (GeneRIF, showing 8)

• Shear stress-dependent upregulation of TPST2 in human endothelium is mediated by a tyrosine kinase-dependent pathway (PMID:12056800)
• Tyrosine sulfation of CCR5 N-terminal peptide follows a discrete pattern and temporal sequence (PMID:12169668)
• The kinetic parameters of tyrosylprotein sulfotransferase-1 and -2, catalyzing tyrosine sulfation of CCR8 peptides, were determined using liquid chromatography electrospray ionisation mass spectrometry. (PMID:18672380)
• The p.R153H variant was found in a family with hereditary pancreatitis; however, it did not segregate with the disease. (PMID:20460947)
• the first crystal structure of the human tyrosylprotein sulfotransferase isoform 2 complexed with a substrate peptide (C4P5Y3) derived from complement C4 and 3’-phosphoadenosine-5’-phosphate at 1.9 A resolution, is reported. (PMID:23481380)
• Using a quantum mechanics protocol of alanine scanning, the study identified unequivocally the role of the amino acids involved in the TPST-2 catalytic mechanism. (PMID:26108987)
• Genetic variations in the host dependency factors ALCAM and TPST2 impact HIV-1 disease progression. (PMID:32287057)
• Sulfation of a FLAG tag mediated by SLC35B2 and TPST2 affects antibody recognition. (PMID:33951064)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	tpst2	ENSDARG00000099155
mus_musculus	Tpst2	ENSMUSG00000029344
rattus_norvegicus	Tpst2	ENSRNOG00000000664
drosophila_melanogaster	Tpst	FBGN0086674
caenorhabditis_elegans		WBGENE00013737
caenorhabditis_elegans		WBGENE00018365

Paralogs (1): TPST1 (ENSG00000169902)

Protein

Protein identifiers

Protein-tyrosine sulfotransferase 2 — O60704 (reviewed: O60704)

Alternative names: Tyrosylprotein sulfotransferase 2

All UniProt accessions (7): O60704, B1AHJ5, B1AHJ6, B1AHJ7, B1AHJ8, B1AHJ9, B1AHK0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the O-sulfation of tyrosine residues within acidic motifs of polypeptides, using 3’-phosphoadenylyl sulfate (PAPS) as cosubstrate.

Subunit / interactions. Homodimer. Can also form heterodimers with TPST1.

Subcellular location. Golgi apparatus membrane.

Tissue specificity. Widely expressed.

Post-translational modifications. N-glycosylated.

Miscellaneous. Substrate peptides must be flexible in order to adopt an L-shaped conformation in the deep binding cleft.

Similarity. Belongs to the protein sulfotransferase family.

RefSeq proteins (4): NP_001008566, NP_001349851, NP_001349852, NP_003586* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026634	TPST-like	Family
IPR027417	P-loop_NTPase	Homologous_superfamily

Pfam: PF13469

Enzyme classification (BRENDA):

• EC 2.8.2.20 — protein-tyrosine sulfotransferase (BRENDA: 19 organisms, 159 substrates, 69 inhibitors, 77 Km, 8 kcat entries)

Substrate kinetics (BRENDA)

36 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
3’-PHOSPHOADENYLYL SULFATE	0.0021–0.59	9
EAY	—	7
3’-PHOSPHOADENYLYLSULFATE	0.0003–0.02	4
VTDYYYPDI	0.0193–120	4
BENZYL-GLU-TYR	1.223–1.297	2
EEFHTDYIYTQDVK	0.071–0.457	2
P-SELECTIN GLYCOPROTEIN LIGAND-1	0.011–0.053	2
PEPTIDE HIR-(57-65)	0.24–0.41	2
PEPTIDE Y+1 TYROSINE	0.002–0.0044	2
PSGL-1	0.0097–0.0269	2
STATHERIN	0.04	2
TYR-TYR-TYR	0.0175–0.022	2
VTDSYYSYPDI	17–21	2
[Y+3 PEPTIDE]-L-TYROSINE	0.0018–0.0019	2
ATEFEFLDYDFL	0.0315	1

Catalyzed reactions (Rhea), 1 shown:

• L-tyrosyl-[protein] + 3’-phosphoadenylyl sulfate = O-sulfo-L-tyrosine-[protein] + adenosine 3’,5’-bisphosphate + H(+) (RHEA:16801)

UniProt features (56 total): helix 16, strand 9, binding site 7, mutagenesis site 7, sequence conflict 3, topological domain 2, site 2, glycosylation site 2, disulfide bond 2, turn 2, chain 1, transmembrane region 1, region of interest 1, active site 1

Structure

Experimental structures (PDB)

5 structures.

PDB	Method	Resolution (Å)
9WWE	X-RAY DIFFRACTION	1.75
3AP1	X-RAY DIFFRACTION	1.9
9WWF	X-RAY DIFFRACTION	2
3AP2	X-RAY DIFFRACTION	2.4
3AP3	X-RAY DIFFRACTION	3.5

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O60704-F1	91.18	0.79

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 (3): 158 (transition state stabilizer); 285 (transition state stabilizer); 99 (proton donor/acceptor)

Ligand- & substrate-binding residues (7): 238; 285–294; 300; 78–82; 183; 191; 195

Disulfide bonds (2): 96–156, 225–233

Glycosylation sites (2): 343, 368

Mutagenesis-validated functional residues (7):

Position	Phenotype
78	strongly reduced enzymatic activity.
99	loss of sulfotransferase activity.
101	prevents dimerization and strongly decreases enzyme activity.
113	prevents dimerization and decreases enzyme activity.
158	nearly complete loss of enzymatic activity.
198	slightly decreased sulfotransferase activity.
285	abolishes sulfotransferase activity.

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-156584	Cytosolic sulfonation of small molecules
R-HSA-163841	Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation
R-HSA-9674519	Defective F8 sulfation at Y1699
R-HSA-9942503	Differentiation of naive CD4+ T cells to T helper 1 cells (Th1 cells)

MSigDB gene sets: 250 (showing top): GOBP_SINGLE_FERTILIZATION, GOBP_NEGATIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, REACTOME_BIOLOGICAL_OXIDATIONS, GOBP_MEMBRANE_FUSION, GOBP_PLASMA_MEMBRANE_ORGANIZATION, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_SULFATION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GTGCCTT_MIR506, GOCC_TRANS_GOLGI_NETWORK, ONKEN_UVEAL_MELANOMA_UP, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_DN, ROZANOV_MMP14_TARGETS_UP

GO Biological Process (4): peptidyl-tyrosine sulfation (GO:0006478), fusion of sperm to egg plasma membrane involved in single fertilization (GO:0007342), 3’-phosphoadenosine 5’-phosphosulfate metabolic process (GO:0050427), prevention of polyspermy (GO:0060468)

GO Molecular Function (3): protein-tyrosine sulfotransferase activity (GO:0008476), protein homodimerization activity (GO:0042803), transferase activity (GO:0016740)

GO Cellular Component (6): Golgi membrane (GO:0000139), endoplasmic reticulum (GO:0005783), Golgi apparatus (GO:0005794), Golgi lumen (GO:0005796), trans-Golgi network (GO:0005802), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Phase II - Conjugation of compounds	1
Post-translational protein modification	1
Defective factor VIII causes hemophilia A	1
Differentiation of T cells	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
Golgi apparatus	2
cytoplasm	2
endomembrane system	2
intracellular membrane-bounded organelle	2
protein sulfation	1
peptidyl-tyrosine modification	1
single fertilization	1
cellular process involved in reproduction in multicellular organism	1
sulfur compound metabolic process	1
purine ribonucleotide metabolic process	1
purine ribonucleoside bisphosphate metabolic process	1
oxoacid metabolic process	1
egg activation	1
negative regulation of fertilization	1
sulfotransferase activity	1
catalytic activity, acting on a protein	1
identical protein binding	1
protein dimerization activity	1
catalytic activity	1
bounding membrane of organelle	1
intracellular organelle lumen	1
Golgi apparatus subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1670 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TPST2	SLC35B2	Q8TB61	720
TPST2	SELPLG	Q14242	636
TPST2	PDILT	Q8N807	598
TPST2	PAPSS1	O43252	555
TPST2	ALCAM	Q13740	541
TPST2	SELP	P16109	516
TPST2	SRRD	Q9UH36	511
TPST2	RNASE10	Q5GAN6	494
TPST2	CALR3	Q96L12	485
TPST2	ADAM2	P78326	477
TPST2	SULT2A1	Q06520	472
TPST2	PRSS37	A4D1T9	469
TPST2	BPNT1	O95861	463
TPST2	SULT1B1	O43704	454
TPST2	PSG2	P11465	447

IntAct

49 interactions, top by confidence:

A	B	Type	Score
SLC39A9	B4GALT5	psi-mi:“MI:0914”(association)	0.530
TCTN2	TPST2	psi-mi:“MI:0914”(association)	0.530
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
CHRND	TPST2	psi-mi:“MI:0914”(association)	0.530
CSGALNACT2	TPST1	psi-mi:“MI:0914”(association)	0.530
TPST1	TPST2	psi-mi:“MI:0914”(association)	0.530
CHRNA3	TMEM223	psi-mi:“MI:0914”(association)	0.350
HTR3C	TMEM223	psi-mi:“MI:0914”(association)	0.350
SLC39A4	TMEM120B	psi-mi:“MI:0914”(association)	0.350
CSGALNACT2	CLASP2	psi-mi:“MI:0914”(association)	0.350
MRAP2	GOSR1	psi-mi:“MI:0914”(association)	0.350
PTCH1	PLXNB2	psi-mi:“MI:0914”(association)	0.350
HTR3A	GPAA1	psi-mi:“MI:0914”(association)	0.350
CHRND	EXTL3	psi-mi:“MI:0914”(association)	0.350
CHRNA4	TMEM223	psi-mi:“MI:0914”(association)	0.350
HLA-DQA1	TMEM223	psi-mi:“MI:0914”(association)	0.350
CLEC12B	GXYLT2	psi-mi:“MI:0914”(association)	0.350
LRRC55	TMEM120B	psi-mi:“MI:0914”(association)	0.350
TCTN2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CHRNB2	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SMIM5	KLRG2	psi-mi:“MI:0914”(association)	0.350
SCGB2A1	RAP1BL	psi-mi:“MI:0914”(association)	0.350
KLRC1	METTL15	psi-mi:“MI:0914”(association)	0.350
SCN4A	C2CD4B	psi-mi:“MI:0914”(association)	0.350
TMEM106A	RTL8C	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
TMEM59	GPR89A	psi-mi:“MI:0914”(association)	0.350

BioGRID (139): TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-MS), TPST2 (Affinity Capture-RNA), DFNA5 (Affinity Capture-MS)

ESM2 similar proteins: A2WYE9, A8X181, B0W429, B3H5R0, O04933, O22775, O60507, O60704, O70281, O75072, O77081, O88856, P31927, P79701, Q0JGK4, Q0VBN2, Q0WQD2, Q17A75, Q18078, Q19187, Q23544, Q3EDG5, Q3KR92, Q3SYY2, Q4R863, Q5GIT4, Q5RJS8, Q5SP46, Q5ZJI0, Q60HG0, Q6DE37, Q6ZHZ1, Q8IZU8, Q8R507, Q8RXE1, Q8RY24, Q8W4A7, Q93ZX7, Q949Q1, Q9FF46

Diamond homologs: A8XLL3, O60507, O60704, O70281, O77081, O88856, Q20351, Q3KR92, Q3SYY2, Q4R863, Q5RJS8, Q5ZJI0, Q9PTE6, Q9VYB7, P55472

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 61 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Neurotransmitter receptors and postsynaptic signal transmission	7	20.6×	1e-06
Transmission across Chemical Synapses	7	15.7×	6e-06
Neuronal System	7	9.1×	1e-04

GO biological processes:

GO term	Partners	Fold	FDR
acetylcholine receptor signaling pathway	5	58.9×	3e-06
membrane depolarization	5	48.2×	7e-06
monoatomic ion transmembrane transport	8	31.4×	5e-08
chemical synaptic transmission	6	8.8×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	52
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2235 predictions. Top by Δscore:

Variant	Effect	Δscore
22:26526156:T:C	donor_gain	1.0000
22:26526163:T:TA	donor_gain	1.0000
22:26528209:CTTA:C	donor_loss	1.0000
22:26528210:TTAC:T	donor_loss	1.0000
22:26528211:TACCT:T	donor_loss	1.0000
22:26528212:A:C	donor_loss	1.0000
22:26528213:C:CT	donor_loss	1.0000
22:26536284:TCA:T	donor_loss	1.0000
22:26536285:CAC:C	donor_loss	1.0000
22:26536286:A:AC	donor_gain	1.0000
22:26536286:A:AG	donor_loss	1.0000
22:26536286:AC:A	donor_gain	1.0000
22:26536286:ACCCG:A	donor_gain	1.0000
22:26536287:C:CC	donor_gain	1.0000
22:26536287:CC:C	donor_gain	1.0000
22:26536287:CCCG:C	donor_gain	1.0000
22:26536287:CCCGC:C	donor_gain	1.0000
22:26536485:TC:T	acceptor_gain	1.0000
22:26536486:CC:C	acceptor_gain	1.0000
22:26536487:C:CC	acceptor_gain	1.0000
22:26526053:T:TA	donor_gain	0.9900
22:26528208:GCTTA:G	donor_loss	0.9900
22:26528262:CCTG:C	acceptor_loss	0.9900
22:26528263:C:A	acceptor_loss	0.9900
22:26528263:C:CC	acceptor_gain	0.9900
22:26528264:T:A	acceptor_loss	0.9900
22:26532689:TCTAA:T	donor_loss	0.9900
22:26532690:CTAAC:C	donor_loss	0.9900
22:26532691:TAACC:T	donor_loss	0.9900
22:26532692:AACC:A	donor_loss	0.9900

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000066025 (22:26526918 A>T), RS1000134487 (22:26550081 T>A,C), RS1000142670 (22:26589581 C>T), RS1000152034 (22:26543961 A>T), RS1000196878 (22:26589736 C>A), RS1000236222 (22:26535075 G>A), RS1000247476 (22:26535398 A>G), RS1000294546 (22:26583733 G>A,C), RS1000399200 (22:26578158 C>A,G,T), RS1000409579 (22:26555782 C>G), RS1000431536 (22:26552995 G>A), RS1000440026 (22:26549493 C>T), RS1000473720 (22:26589264 C>T), RS1000565453 (22:26536908 A>G), RS1000582089 (22:26529271 C>A,T)

Disease associations

OMIM: gene MIM:603126 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST005025_13	Anti-saccade response	4.000000e-06
GCST005025_24	Anti-saccade response	4.000000e-06
GCST006585_2351	Blood protein levels	7.000000e-09
GCST009391_129	Metabolite levels	2.000000e-06
GCST009391_1488	Metabolite levels	9.000000e-06

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0006874	antisaccade response measurement
EFO:0010355	diacylglycerol 36:2 measurement
EFO:0010414	triacylglycerol 52:2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3178 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases expression	2
Valproic Acid	increases expression	2
aristolochic acid I	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
ICG 001	increases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
PCI 5002	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	decreases expression	1
Acetaminophen	increases expression	1
Diuron	decreases expression	1
Fluorouracil	affects response to substance	1
Quercetin	decreases expression	1
Smoke	decreases expression	1
Tamoxifen	affects expression	1
Testosterone	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Urethane	increases expression	1
Zinc	affects cotreatment, increases expression	1
Cyclosporine	decreases expression	1
Aflatoxin B1	decreases expression	1
tert-Butylhydroperoxide	increases expression	1

ChEMBL screening assays

5 unique, capped per target: 5 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL811422	Binding	Inhibitory activity of compound was determined against human tyrosylprotein sulfotransferase-2 (hTPST-2) using [35S]PAPS radioligand	Tyrosylprotein sulfotransferase inhibitors generated by combinatorial target-guided ligand assembly. — Bioorg Med Chem Lett

Clinical trials (associated diseases)

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