SULT1C2
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Also known as ST1C1
Summary
SULT1C2 (sulfotransferase family 1C member 2, HGNC:11456) is a protein-coding gene on chromosome 2q12.3, encoding Sulfotransferase 1C2 (O00338). Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the sulfate conjugation of phenolic compounds.
Sulfotransferase enzymes catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs, and xenobiotic compounds. These cytosolic enzymes are different in their tissue distributions and substrate specificities. The gene structure (number and length of exons) is similar among family members. This gene encodes a protein that belongs to the SULT1 subfamily, responsible for transferring a sulfo moiety from PAPS to phenol-containing compounds. Two alternatively spliced transcript variants encoding different isoforms have been described for this gene.
Source: NCBI Gene 6819 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 59 total
- Druggable target: yes
- MANE Select transcript:
NM_001056
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11456 |
| Approved symbol | SULT1C2 |
| Name | sulfotransferase family 1C member 2 |
| Location | 2q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | ST1C1 |
| Ensembl gene | ENSG00000198203 |
| Ensembl biotype | protein_coding |
| OMIM | 602385 |
| Entrez | 6819 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 9 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000251481, ENST00000326853, ENST00000409067, ENST00000409880, ENST00000437390, ENST00000438339, ENST00000442801, ENST00000492554, ENST00000495441, ENST00000900823, ENST00000939529, ENST00000947596
RefSeq mRNA: 2 — MANE Select: NM_001056
NM_001056, NM_176825
CCDS: CCDS2075, CCDS2076
Canonical transcript exons
ENST00000251481 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000772727 | 108294229 | 108294354 |
| ENSE00000804415 | 108293647 | 108293818 |
| ENSE00001269408 | 108300838 | 108300935 |
| ENSE00001414539 | 108308352 | 108309915 |
| ENSE00003559112 | 108304574 | 108304700 |
| ENSE00003637914 | 108305415 | 108305595 |
| ENSE00003676359 | 108305172 | 108305266 |
| ENSE00003848372 | 108288895 | 108289070 |
Expression profiles
Bgee: expression breadth ubiquitous, 191 present calls, max score 98.13.
FANTOM5 (CAGE): breadth broad, TPM avg 1.3702 / max 113.7464, expressed in 434 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21855 | 2.3818 | 331 |
| 21859 | 0.5954 | 273 |
| 21854 | 0.2855 | 147 |
| 21856 | 0.1655 | 74 |
| 21853 | 0.1091 | 36 |
| 21858 | 0.0969 | 42 |
| 21857 | 0.0642 | 22 |
| 202331 | 0.0536 | 19 |
Top tissues by expression
284 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 98.13 | gold quality |
| nephron tubule | UBERON:0001231 | 97.13 | gold quality |
| renal medulla | UBERON:0000362 | 96.63 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.53 | gold quality |
| metanephros cortex | UBERON:0010533 | 96.23 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 95.81 | gold quality |
| mucosa of stomach | UBERON:0001199 | 94.52 | gold quality |
| kidney | UBERON:0002113 | 94.11 | gold quality |
| kidney epithelium | UBERON:0004819 | 93.73 | gold quality |
| cortex of kidney | UBERON:0001225 | 93.21 | gold quality |
| renal glomerulus | UBERON:0000074 | 91.95 | gold quality |
| corpus epididymis | UBERON:0004359 | 91.41 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 90.96 | gold quality |
| caput epididymis | UBERON:0004358 | 90.93 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 89.45 | gold quality |
| thyroid gland | UBERON:0002046 | 89.33 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.99 | gold quality |
| duodenum | UBERON:0002114 | 88.08 | gold quality |
| metanephros | UBERON:0000081 | 88.01 | gold quality |
| pancreatic ductal cell | CL:0002079 | 87.82 | silver quality |
| cardia of stomach | UBERON:0001162 | 87.11 | gold quality |
| stomach | UBERON:0000945 | 86.37 | gold quality |
| body of stomach | UBERON:0001161 | 86.23 | gold quality |
| jejunal mucosa | UBERON:0000399 | 84.80 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 81.64 | gold quality |
| right uterine tube | UBERON:0001302 | 80.24 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 79.05 | gold quality |
| gall bladder | UBERON:0002110 | 78.87 | gold quality |
| adult organism | UBERON:0007023 | 78.70 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 78.10 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81383 | yes | 166.12 |
| E-ANND-3 | yes | 7.44 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): FLCN, NR1H3, TFE3, VDR
miRNA regulators (miRDB)
77 targeting SULT1C2, 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-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| 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-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-3180-5P | 99.82 | 69.12 | 2422 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-3913-5P | 99.78 | 67.26 | 968 |
| HSA-MIR-200A-5P | 99.76 | 69.10 | 949 |
| HSA-MIR-200B-5P | 99.76 | 69.05 | 948 |
| HSA-MIR-1825 | 99.72 | 68.11 | 1089 |
| HSA-MIR-4499 | 99.62 | 67.29 | 1470 |
| HSA-MIR-186-3P | 99.51 | 66.24 | 1685 |
| HSA-MIR-3122 | 99.50 | 66.33 | 821 |
| HSA-MIR-4441 | 99.49 | 66.56 | 3216 |
| HSA-MIR-4325 | 99.49 | 72.20 | 1342 |
| HSA-MIR-5683 | 99.36 | 68.59 | 2083 |
| HSA-MIR-4786-3P | 99.36 | 68.35 | 1390 |
Literature-anchored findings (GeneRIF, showing 5)
- gene resequencing and functional genomic studies (PMID:11740338)
- crystal structures of two members of SULT1 family, SULT1B1 and SULT1C1, both in complex with the product of the PAPS cofactor, adenosine-3-5-diphosphate (PAP). (PMID:16804942)
- Our findings are the first to characterize the regulation of human SULT1C2 and SULT1C3 expression by several transcription factor activators. (PMID:24335393)
- Vitamin D receptor can interact directly with the SULT1C2 VDRE sequence to transcriptionally regulation SULT1C2 expression in colorectal tumor cells. (PMID:27130351)
- The Sulfotransferase SULT1C2 Is Epigenetically Activated and Transcriptionally Induced by Tobacco Exposure and Is Associated with Patient Outcome in Lung Adenocarcinoma. (PMID:35010676)
Cross-species orthologs
11 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Sult1c2 | ENSMUSG00000023122 |
| rattus_norvegicus | Sult1c2a | ENSRNOG00000042111 |
| rattus_norvegicus | LOC120094625 | ENSRNOG00000065530 |
| rattus_norvegicus | Sult1c2 | ENSRNOG00000067413 |
| rattus_norvegicus | Sult1c2al1 | ENSRNOG00000068175 |
| rattus_norvegicus | Sult1c2al1 | ENSRNOG00000075356 |
| rattus_norvegicus | ENSRNOG00000082870 | |
| rattus_norvegicus | ENSRNOG00000084902 | |
| drosophila_melanogaster | St4 | FBGN0033887 |
| drosophila_melanogaster | St1 | FBGN0034887 |
| drosophila_melanogaster | St3 | FBGN0265052 |
Paralogs (12): SULT2B1 (ENSG00000088002), SULT2A1 (ENSG00000105398), SULT1E1 (ENSG00000109193), SULT4A1 (ENSG00000130540), SULT6B1 (ENSG00000138068), SULT1B1 (ENSG00000173597), SULT1C3 (ENSG00000196228), SULT1A1 (ENSG00000196502), SULT1A2 (ENSG00000197165), SULT1C4 (ENSG00000198075), SULT1A4 (ENSG00000213648), SULT1A3 (ENSG00000261052)
Protein
Protein identifiers
Sulfotransferase 1C2 — O00338 (reviewed: O00338)
Alternative names: Sulfotransferase 1C1, humSULTC2
All UniProt accessions (6): B4DLP0, B8ZZF7, C9JSR0, O00338, H7BZ17, H7C420
UniProt curated annotations — full annotation on UniProt →
Function. Sulfotransferase that utilizes 3’-phospho-5’-adenylyl sulfate (PAPS) to catalyze the sulfate conjugation of phenolic compounds. Does not transfer sulfate to steroids, dopamine, acetaminophen, or alpha-naphthol. Except in mitochondria, where it can add sulfate to cholesterol producing cholesterol sulfate, which alters mitochondrial membrane organization, and impacts protein complex mobility increasing state-III respiration, thereby modulating mitochondrial respiration. Catalyzes the sulfation of the carcinogenic N-hydroxy-2-acetylaminofluorene leading to highly reactive intermediates capable of forming DNA adducts, potentially resulting in mutagenesis.
Subcellular location. Cytoplasm. Lysosome. Mitochondrion.
Tissue specificity. Found in adult stomach, kidney and thyroid gland, and in fetal kidney and liver.
Similarity. Belongs to the sulfotransferase 1 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O00338-1 | Short | yes |
| O00338-2 | Long |
RefSeq proteins (2): NP_001047, NP_789795 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000863 | Sulfotransferase_dom | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00685
Catalyzed reactions (Rhea), 2 shown:
- a phenol + 3’-phosphoadenylyl sulfate = an aryl sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:12164)
- cholesterol + 3’-phosphoadenylyl sulfate = cholesterol sulfate + adenosine 3’,5’-bisphosphate + H(+) (RHEA:52368)
UniProt features (37 total): helix 14, binding site 7, strand 6, sequence variant 3, modified residue 2, turn 2, chain 1, active site 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3BFX | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O00338-F1 | 95.68 | 0.95 |
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): 109 (proton acceptor)
Ligand- & substrate-binding residues (7): 49–54; 107–109; 131; 139; 194; 228–233; 256–260
Post-translational modifications (2): 254, 139
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-156584 | Cytosolic sulfonation of small molecules |
| R-HSA-1430728 | Metabolism |
| R-HSA-156580 | Phase II - Conjugation of compounds |
| R-HSA-211859 | Biological oxidations |
MSigDB gene sets: 101 (showing top):
REACTOME_BIOLOGICAL_OXIDATIONS, chr2q12, GOBP_SULFATION, RODWELL_AGING_KIDNEY_NO_BLOOD_DN, CADWELL_ATG16L1_TARGETS_DN, MODULE_99, LIAO_METASTASIS, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, BASAKI_YBX1_TARGETS_DN, GRUETZMANN_PANCREATIC_CANCER_UP, TAKEDA_TARGETS_OF_NUP98_HOXA9_FUSION_16D_DN, HAN_SATB1_TARGETS_DN, REACTOME_CYTOSOLIC_SULFONATION_OF_SMALL_MOLECULES, GOMF_ARYL_SULFOTRANSFERASE_ACTIVITY, REACTOME_PHASE_II_CONJUGATION_OF_COMPOUNDS
GO Biological Process (2): amine metabolic process (GO:0009308), sulfation (GO:0051923)
GO Molecular Function (5): aryl sulfotransferase activity (GO:0004062), sulfotransferase activity (GO:0008146), cholesterol sulfotransferase activity (GO:0051922), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (4): cytoplasm (GO:0005737), mitochondrion (GO:0005739), lysosome (GO:0005764), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Phase II - Conjugation of compounds | 1 |
| Biological oxidations | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| metabolic process | 1 |
| sulfur compound metabolic process | 1 |
| sulfotransferase activity | 1 |
| transferase activity, transferring sulphur-containing groups | 1 |
| alcohol sulfotransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
| lytic vacuole | 1 |
Protein interactions and networks
STRING
572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SULT1C2 | CYP4B1 | P13584 | 514 |
| SULT1C2 | UGT1A10 | Q9HAW8 | 449 |
| SULT1C2 | TMEM232 | C9JQI7 | 443 |
| SULT1C2 | SULT1A3 | P0DMM9 | 427 |
| SULT1C2 | SULT1A1 | P50225 | 418 |
| SULT1C2 | UGT1A7 | Q9HAW7 | 411 |
| SULT1C2 | UGT1A4 | P22310 | 410 |
| SULT1C2 | UGT1A8 | Q9HAW9 | 409 |
| SULT1C2 | UGT1A1 | P22309 | 408 |
| SULT1C2 | VNN2 | O95498 | 398 |
| SULT1C2 | UGT1A6 | P19224 | 397 |
| SULT1C2 | DUOXA1 | Q1HG43 | 394 |
| SULT1C2 | CHRNA4 | P43681 | 392 |
| SULT1C2 | PAPSS2 | O95340 | 390 |
| SULT1C2 | RECQL4 | O94761 | 372 |
| SULT1C2 | MMP12 | P39900 | 372 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SULT1A1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.830 |
| SULT1C2 | SULT1C4 | psi-mi:“MI:0914”(association) | 0.530 |
| SULT1C2 | TINF2 | psi-mi:“MI:0915”(physical association) | 0.510 |
| SULT1C2 | SULT2B1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SULT1C2 | TERF1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SULT1C2 | ACD | psi-mi:“MI:0915”(physical association) | 0.370 |
| POT1 | SULT1C2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SULT1C2 | HLTF | psi-mi:“MI:0915”(physical association) | 0.370 |
| RASGRP3 | SULT1C2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| POLL | SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 | |
| OTULIN | SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC25A6 | SULT1C2 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1A2 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT4A1 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| SULT1A3 | SULT2B1 | psi-mi:“MI:0914”(association) | 0.350 |
| TINF2 | SULT1C2 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (29): SULT1C2 (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), SULT1C4 (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS), SULT1C4 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS), SULT1A1 (Affinity Capture-MS), SULT1C4 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS), SULT1A3 (Affinity Capture-MS), SULT1C2 (Affinity Capture-MS)
ESM2 similar proteins: A0A173GP47, A0A1L8HV70, A0A2K5X3B6, B2RVI8, F1QYJ6, G3V9R3, O00338, O43704, O46503, O75897, P0CC03, P15709, P17988, P19217, P22789, P27707, P46560, P48769, P49887, P49888, P49891, P50234, P50235, P50236, P50237, P52840, P52841, P52843, P52844, P52847, Q06520, Q3T0Y3, Q3UZZ6, Q5ZJM7, Q6IMI4, Q6IMI6, Q6PH37, Q6WG17, Q6WG18, Q7T2V2
Diamond homologs: A0A173GP47, A0A2K5X3B6, G3V9R3, O00338, O35400, O43704, O46503, O46640, O75897, P0DMM9, P0DMN0, P19217, P49887, P49888, P49891, P50236, P50237, P52839, P52840, P52842, P52844, P52847, P63046, P63047, Q29476, Q3T0Y3, Q3UZZ6, Q6IMI6, Q80VR3, Q8BGL3, Q8JG30, Q95JD5, Q9BR01, Q9C9D0, Q9D939, Q9FZ80, Q9QWG7, Q9WUW8, Q9WUW9, B2RVI8
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 |
|---|---|---|---|
| Cytosolic sulfonation of small molecules | 6 | 207.6× | 7e-12 |
| Phase II - Conjugation of compounds | 5 | 92.8× | 3e-08 |
| Biological oxidations | 5 | 43.3× | 5e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| sulfation | 6 | 421.3× | 1e-13 |
| 3’-phosphoadenosine 5’-phosphosulfate metabolic process | 5 | 374.5× | 4e-11 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 39 |
| Likely benign | 4 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
889 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:108293643:ATAG:A | acceptor_gain | 1.0000 |
| 2:108293643:ATAGG:A | acceptor_gain | 1.0000 |
| 2:108293644:T:G | acceptor_gain | 1.0000 |
| 2:108293644:TAG:T | acceptor_loss | 1.0000 |
| 2:108293645:A:AG | acceptor_gain | 1.0000 |
| 2:108293645:A:C | acceptor_loss | 1.0000 |
| 2:108293645:AG:A | acceptor_gain | 1.0000 |
| 2:108293645:AGG:A | acceptor_gain | 1.0000 |
| 2:108293646:G:GC | acceptor_gain | 1.0000 |
| 2:108293646:GG:G | acceptor_gain | 1.0000 |
| 2:108293646:GGG:G | acceptor_gain | 1.0000 |
| 2:108293646:GGGA:G | acceptor_gain | 1.0000 |
| 2:108293646:GGGAC:G | acceptor_gain | 1.0000 |
| 2:108294219:T:TA | acceptor_gain | 1.0000 |
| 2:108305170:A:AG | acceptor_gain | 1.0000 |
| 2:108305170:AGT:A | acceptor_gain | 1.0000 |
| 2:108305171:G:GA | acceptor_gain | 1.0000 |
| 2:108305171:GTG:G | acceptor_gain | 1.0000 |
| 2:108293643:A:AG | acceptor_gain | 0.9900 |
| 2:108293816:C:T | donor_gain | 0.9900 |
| 2:108294351:TCTGG:T | donor_loss | 0.9900 |
| 2:108294353:TGG:T | donor_loss | 0.9900 |
| 2:108294355:GT:G | donor_loss | 0.9900 |
| 2:108294356:T:A | donor_loss | 0.9900 |
| 2:108294357:GAGA:G | donor_loss | 0.9900 |
| 2:108304572:A:AG | acceptor_gain | 0.9900 |
| 2:108304573:G:GG | acceptor_gain | 0.9900 |
| 2:108305171:GT:G | acceptor_gain | 0.9900 |
| 2:108305171:GTGGT:G | acceptor_gain | 0.9900 |
| 2:108305263:GAGG:G | donor_gain | 0.9900 |
AlphaMissense
1997 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:108293813:A:T | K49I | 0.991 |
| 2:108293814:A:C | K49N | 0.990 |
| 2:108293814:A:T | K49N | 0.990 |
| 2:108304600:A:C | K134N | 0.988 |
| 2:108304600:A:T | K134N | 0.988 |
| 2:108304601:G:C | D135H | 0.988 |
| 2:108305186:T:A | W173R | 0.987 |
| 2:108305186:T:C | W173R | 0.987 |
| 2:108305207:T:A | W180R | 0.986 |
| 2:108305207:T:C | W180R | 0.986 |
| 2:108305583:T:C | F256L | 0.985 |
| 2:108305585:C:A | F256L | 0.985 |
| 2:108305585:C:G | F256L | 0.985 |
| 2:108293818:G:T | G51W | 0.984 |
| 2:108294229:G:T | G51V | 0.983 |
| 2:108304599:A:T | K134I | 0.983 |
| 2:108304625:T:C | F143L | 0.983 |
| 2:108304627:C:A | F143L | 0.983 |
| 2:108304627:C:G | F143L | 0.983 |
| 2:108305591:A:C | R258S | 0.982 |
| 2:108305591:A:T | R258S | 0.982 |
| 2:108308366:T:A | W265R | 0.982 |
| 2:108308366:T:C | W265R | 0.982 |
| 2:108305448:T:C | F211L | 0.981 |
| 2:108305450:C:A | F211L | 0.981 |
| 2:108305450:C:G | F211L | 0.981 |
| 2:108293802:C:G | C45W | 0.979 |
| 2:108300885:C:G | H109D | 0.979 |
| 2:108304590:G:C | R131P | 0.979 |
| 2:108293792:T:C | L42P | 0.978 |
dbSNP variants (sampled 300 via entrez): RS1000066197 (2:108301815 T>C,G), RS1000094579 (2:108292044 C>T), RS1000165224 (2:108310353 C>T), RS1000258913 (2:108288837 G>A), RS1000299760 (2:108289090 G>T), RS1000325125 (2:108309573 A>T), RS1000440001 (2:108303859 T>A,C), RS1000548984 (2:108287075 G>A), RS1000801463 (2:108292996 T>C), RS1000828520 (2:108299478 T>C), RS1000927210 (2:108307882 C>G), RS1000955533 (2:108300116 T>C,G), RS1001128909 (2:108293256 C>T), RS1001246132 (2:108302308 C>T), RS1001414189 (2:108305473 C>T)
Disease associations
OMIM: gene MIM:602385 | disease phenotypes: MIM:158580, MIM:617143
GenCC curated gene-disease
Mondo (2): neuronopathy, distal hereditary motor, type 7A (MONDO:0008024), congenital myasthenic syndrome 20 (MONDO:0014939)
Orphanet (1): Distal hereditary motor neuropathy type 7 (Orphanet:139589)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002931_10 | Aluminium levels | 5.000000e-07 |
| GCST003476_3 | Eyebrow thickness | 1.000000e-07 |
| GCST003854_6 | Gut microbiota (functional units) | 2.000000e-08 |
| GCST011039_7 | Parkinson’s disease progression (composite) | 4.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007874 | gut microbiome measurement |
| EFO:0008336 | disease progression measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C563562 | Neuropathy, Distal Hereditary Motor, Type VIIA (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL1743295 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
47 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, affects cotreatment, increases expression | 8 |
| Benzo(a)pyrene | decreases expression, increases methylation, affects methylation | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| belinostat | decreases expression, increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Panobinostat | increases expression, affects cotreatment | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Aflatoxin B1 | affects expression, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| potassium perchlorate | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| N-hydroxy-4-aminobiphenyl | increases sulfation | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| enilconazole | increases expression | 1 |
| 2-amino-3-methyl-9H-pyrido(2,3-b)indole | increases activity | 1 |
| butyraldehyde | decreases expression | 1 |
| catechol | increases sulfation | 1 |
| caffeic acid | increases sulfation | 1 |
| pentanal | decreases expression | 1 |
| 1-hydroxymethylpyrene | affects cotreatment, increases activity | 1 |
| fipronil | affects cotreatment, increases expression | 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 |
| (+)-JQ1 compound | decreases expression | 1 |
| Resveratrol | increases expression | 1 |
| Arsenic Trioxide | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 admet
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL1743307 | ADMET | Major substrate of human cytosolic sulfotransferase SULT1C2 | Casarett and Doull’s Toxicology The Basic Science of Poisons, 7th edition |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital myasthenic syndrome 20, neuronopathy, distal hereditary motor, type 7A, Parkinson disease