AGMAT
gene geneOn this page
Also known as FLJ23384
Summary
AGMAT (agmatinase (putative), HGNC:18407) is a protein-coding gene on chromosome 1p36.21, encoding Guanidino acid hydrolase, mitochondrial (Q9BSE5). Hydrolyzes linear guanidino acids to form urea and the corresponding amines.
Enables arginase activity; guanidinobutyrase activity; and guanidinopropionase activity. Predicted to be involved in putrescine biosynthetic process from arginine, via agmatine. Located in mitochondrion.
Source: NCBI Gene 79814 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 83 total — 2 likely-pathogenic
- MANE Select transcript:
NM_024758
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18407 |
| Approved symbol | AGMAT |
| Name | agmatinase (putative) |
| Location | 1p36.21 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23384 |
| Ensembl gene | ENSG00000116771 |
| Ensembl biotype | protein_coding |
| OMIM | 617887 |
| Entrez | 79814 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 4 protein_coding
ENST00000375826, ENST00000909207, ENST00000930535, ENST00000930536
RefSeq mRNA: 1 — MANE Select: NM_024758
NM_024758
CCDS: CCDS160
Canonical transcript exons
ENST00000375826 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000544310 | 15583193 | 15583395 |
| ENSE00000544313 | 15577685 | 15577864 |
| ENSE00000750501 | 15574757 | 15574841 |
| ENSE00000750536 | 15578859 | 15579054 |
| ENSE00000750537 | 15580094 | 15580142 |
| ENSE00001468508 | 15571699 | 15573724 |
| ENSE00001468525 | 15584696 | 15585051 |
Expression profiles
Bgee: expression breadth ubiquitous, 199 present calls, max score 98.90.
FANTOM5 (CAGE): breadth broad, TPM avg 2.5612 / max 194.6285, expressed in 690 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 10461 | 2.5612 | 690 |
Top tissues by expression
264 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| renal glomerulus | UBERON:0000074 | 98.90 | gold quality |
| nephron tubule | UBERON:0001231 | 98.75 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 98.70 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.63 | gold quality |
| renal medulla | UBERON:0000362 | 98.41 | gold quality |
| adult organism | UBERON:0007023 | 97.12 | gold quality |
| buccal mucosa cell | CL:0002336 | 95.98 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 94.25 | gold quality |
| jejunal mucosa | UBERON:0000399 | 93.76 | gold quality |
| liver | UBERON:0002107 | 93.63 | gold quality |
| kidney | UBERON:0002113 | 92.25 | gold quality |
| vastus lateralis | UBERON:0001379 | 91.41 | gold quality |
| colonic mucosa | UBERON:0000317 | 91.27 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 90.73 | gold quality |
| jejunum | UBERON:0002115 | 90.63 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.34 | gold quality |
| quadriceps femoris | UBERON:0001377 | 89.83 | gold quality |
| ileal mucosa | UBERON:0000331 | 88.93 | gold quality |
| duodenum | UBERON:0002114 | 87.84 | gold quality |
| cortex of kidney | UBERON:0001225 | 86.99 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 86.50 | gold quality |
| metanephros | UBERON:0000081 | 85.93 | gold quality |
| biceps brachii | UBERON:0001507 | 85.72 | gold quality |
| parotid gland | UBERON:0001831 | 84.16 | silver quality |
| skeletal muscle tissue | UBERON:0001134 | 83.86 | gold quality |
| secondary oocyte | CL:0000655 | 83.42 | gold quality |
| oocyte | CL:0000023 | 83.17 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 83.08 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 82.86 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.27 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
73 targeting AGMAT, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6740-5P | 100.00 | 65.64 | 932 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-2052 | 99.79 | 69.37 | 2031 |
| HSA-MIR-33A-3P | 99.70 | 70.27 | 3362 |
| HSA-MIR-10393-5P | 99.65 | 68.01 | 1368 |
| HSA-MIR-3158-5P | 99.65 | 67.51 | 1763 |
| HSA-MIR-6512-3P | 99.65 | 66.07 | 1468 |
| HSA-MIR-6720-5P | 99.65 | 66.22 | 1459 |
| HSA-MIR-3679-3P | 99.64 | 69.88 | 1599 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
Literature-anchored findings (GeneRIF, showing 8)
- an alternative to ornithine decarboxylase for polyamine biosynthesis (PMID:11804860)
- Agmatinase is down-regulated in the clear cell type of renal cell carcinoma (PMID:14648699)
- X-ray crystallographic analysis of human agmatinase (PMID:16511187)
- Agmatinase activity was predominantly detected in neurons of rat and human brain. (PMID:20563878)
- This study demonistrated that increased expression of agmatinase in hippocampal interneurons of subjects with mood disorders. (PMID:21803059)
- Enzymes that are directly involved in the formation of urea are expressed in ocular tissues. (PMID:23740519)
- Agmatinase promotes the lung adenocarcinoma tumorigenesis by activating the NO-MAPKs-PI3K/Akt pathway. (PMID:31699997)
- miR151a5p promotes the proliferation and metastasis of colorectal carcinoma cells by targeting AGMAT. (PMID:36704851)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | agmat | ENSDARG00000059700 |
| mus_musculus | Agmat | ENSMUSG00000040706 |
| rattus_norvegicus | Agmat | ENSRNOG00000012315 |
| caenorhabditis_elegans | WBGENE00020658 |
Paralogs (2): ARG2 (ENSG00000081181), ARG1 (ENSG00000118520)
Protein
Protein identifiers
Guanidino acid hydrolase, mitochondrial — Q9BSE5 (reviewed: Q9BSE5)
Alternative names: Arginase, mitochondrial, Guanidinobutyrase, mitochondrial, Guanidinopropionase, mitochondrial
All UniProt accessions (1): Q9BSE5
UniProt curated annotations — full annotation on UniProt →
Function. Hydrolyzes linear guanidino acids to form urea and the corresponding amines. Displays specificity for substrates having a negatively charged head group and short chains including taurocyamine, guanidino propanoic and butanoic acids. May protect cells by detoxifying potentially harmful amounts of guanidino acids. Metabolizes L-arginine with low efficiency.
Subcellular location. Mitochondrion.
Tissue specificity. Highly expressed in liver and kidney. Also found in skeletal muscle, fetal liver, brain, testis, skin and the gastrointestinal tract. Within brain, expression is higher in the cerebral cortex with lower levels in the medulla and spinal cord.
Pathway. Nitrogen metabolism; urea cycle; L-ornithine and urea from L-arginine: step 1/1.
Similarity. Belongs to the ureohydrolase superfamily. Arginase family.
RefSeq proteins (1): NP_079034* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005925 | Agmatinase-rel | Family |
| IPR006035 | Ureohydrolase | Family |
| IPR020855 | Ureohydrolase_Mn_BS | Binding_site |
| IPR023696 | Ureohydrolase_dom_sf | Homologous_superfamily |
Pfam: PF00491
Enzyme classification (BRENDA):
- EC 3.5.3.11 — agmatinase (BRENDA: 16 organisms, 4 substrates, 30 inhibitors, 39 Km, 33 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| AGMATINE | 0.53–50.5 | 37 |
Catalyzed reactions (Rhea), 4 shown:
- 3-guanidinopropanoate + H2O = urea + beta-alanine (RHEA:16029)
- 4-guanidinobutanoate + H2O = urea + 4-aminobutanoate (RHEA:19501)
- L-arginine + H2O = urea + L-ornithine (RHEA:20569)
- taurocyamine + H2O = urea + taurine (RHEA:75931)
UniProt features (17 total): binding site 8, modified residue 3, sequence variant 2, transit peptide 1, chain 1, sequence conflict 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BSE5-F1 | 92.12 | 0.89 |
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 (8): 278; 162; 185; 185; 187; 189; 276; 276
Post-translational modifications (3): 193, 217, 217
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-351143 | Agmatine biosynthesis |
MSigDB gene sets: 114 (showing top):
ZHAN_MULTIPLE_MYELOMA_MF_UP, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, ACEVEDO_NORMAL_TISSUE_ADJACENT_TO_LIVER_TUMOR_DN, GOBP_GLUTAMINE_FAMILY_AMINO_ACID_METABOLIC_PROCESS, GOBP_POLYAMINE_METABOLIC_PROCESS, SHETH_LIVER_CANCER_VS_TXNIP_LOSS_PAM4, GOBP_AMIDE_METABOLIC_PROCESS, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, LEE_EARLY_T_LYMPHOCYTE_DN, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, WONG_MITOCHONDRIA_GENE_MODULE, OSMAN_BLADDER_CANCER_DN
GO Biological Process (4): urea cycle (GO:0000050), obsolete putrescine biosynthetic process from arginine, via agmatine (GO:0033389), agmatine biosynthetic process (GO:0097055), arginine metabolic process (GO:0006525)
GO Molecular Function (8): arginase activity (GO:0004053), agmatinase activity (GO:0008783), metal ion binding (GO:0046872), guanidinobutyrase activity (GO:0047971), guanidinopropionase activity (GO:0047972), protein binding (GO:0005515), hydrolase activity (GO:0016787), hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines (GO:0016813)
GO Cellular Component (1): mitochondrion (GO:0005739)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of polyamines | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidines | 4 |
| biosynthetic process | 1 |
| urea metabolic process | 1 |
| primary amino compound biosynthetic process | 1 |
| amino acid metabolic process | 1 |
| carboxylic acid metabolic process | 1 |
| cation binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2108 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| AGMAT | AZIN2 | Q96A70 | 857 |
| AGMAT | ODC1 | P11926 | 779 |
| AGMAT | SRM | P19623 | 715 |
| AGMAT | SMS | P52788 | 710 |
| AGMAT | ASS1 | P00966 | 608 |
| AGMAT | OAT | P04181 | 599 |
| AGMAT | OTC | P00480 | 579 |
| AGMAT | DOHH | Q9BU89 | 563 |
| AGMAT | DHPS | P49366 | 544 |
| AGMAT | PAOX | Q6QHF9 | 525 |
| AGMAT | SMOX | Q9NWM0 | 523 |
| AGMAT | ASL | P04424 | 519 |
| AGMAT | AGXT2 | Q9BYV1 | 502 |
| AGMAT | SAT1 | P21673 | 502 |
| AGMAT | AMPD2 | Q01433 | 502 |
IntAct
131 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| YIPF1 | YIPF6 | psi-mi:“MI:0914”(association) | 0.840 |
| DPF3 | ARID1A | psi-mi:“MI:0914”(association) | 0.530 |
| PURG | U2SURP | psi-mi:“MI:0914”(association) | 0.530 |
| AGMAT | DCX | psi-mi:“MI:0915”(physical association) | 0.500 |
| AGMAT | DCX | psi-mi:“MI:0914”(association) | 0.500 |
| AGMAT | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PDZD7 | AGMAT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LNX2 | AGMAT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PATJ | AGMAT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | ARHGEF12 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | HTRA4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAGI2 | AGMAT | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | RADIL | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| AGMAT | TAMALIN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (49): CLPX (Affinity Capture-MS), RMND5A (Affinity Capture-MS), B3GALNT2 (Affinity Capture-MS), AGMAT (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), AGMAT (Affinity Capture-MS), ACAD9 (Affinity Capture-MS), AGMAT (Affinity Capture-MS), BNIP1 (Affinity Capture-MS), WDR5 (Affinity Capture-MS), AGMAT (Affinity Capture-MS), UGGT2 (Affinity Capture-MS), TRIM56 (Affinity Capture-MS), AGMAT (Two-hybrid), AGMAT (Affinity Capture-MS)
ESM2 similar proteins: A0A193KX02, A1Y9I9, A2AS89, A7YY46, B2RQC6, B6CZ62, B8AU84, E2RDZ6, G7JFU5, H9TB17, H9TB18, H9TB19, O08691, O08701, O49046, P08955, P14012, P27708, P37818, P46637, P55205, Q0D2L3, Q10066, Q17QF0, Q2KHV5, Q2NKY8, Q3UEG6, Q3V1F8, Q3ZBQ0, Q4VK78, Q58DL1, Q5R607, Q5RFA3, Q64565, Q68FX9, Q69ZP3, Q6Q2C2, Q6TL19, Q74ZW4, Q7L2E3
Diamond homologs: A1AFC5, A1KVF9, A2AS89, A4WE75, A6TDU9, A7MJQ1, A7ZR59, A8A477, A8APF8, A8GIX7, A9M254, A9N3R6, B1IT67, B1LDE6, B1XF99, B2U0V8, B4F1A3, B4RP98, B4T5I5, B4THG3, B4TV53, B5BFP3, B5F5K3, B5FUJ0, B5QXK5, B5RE39, B5XUB2, B5YQD4, B6I775, B7LFJ6, B7LPE7, B7LYW6, B7MMC5, B7MZN5, B7N7I9, B7NI01, B7UHY3, C0PY54, C5A0K6, C5BAV1
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 96 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 |
|---|---|---|---|
| Assembly and cell surface presentation of NMDA receptors | 8 | 31.2× | 2e-08 |
| Neurexins and neuroligins | 10 | 30.3× | 3e-10 |
| Protein-protein interactions at synapses | 6 | 24.5× | 2e-05 |
| Non-integrin membrane-ECM interactions | 5 | 11.9× | 2e-03 |
| RHOA GTPase cycle | 6 | 6.9× | 4e-03 |
| Axon guidance | 7 | 4.9× | 8e-03 |
| Neuronal System | 7 | 4.8× | 8e-03 |
| Nervous system development | 7 | 4.6× | 9e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 8 | 49.5× | 2e-09 |
| protein localization to synapse | 6 | 48.9× | 3e-07 |
| receptor clustering | 7 | 46.5× | 3e-08 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 31.6× | 3e-06 |
| cell-cell adhesion | 10 | 10.8× | 3e-06 |
| protein-containing complex assembly | 6 | 7.3× | 6e-03 |
| chemical synaptic transmission | 7 | 5.8× | 7e-03 |
| nervous system development | 10 | 4.9× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 2 |
| Uncertain significance | 62 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 146292 | GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1 | Likely pathogenic |
| 982225 | NM_024758.5(AGMAT):c.481G>A (p.Asp161Asn) | Likely pathogenic |
SpliceAI
708 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:15577679:CCTTA:C | donor_loss | 1.0000 |
| 1:15577680:CTTAC:C | donor_loss | 1.0000 |
| 1:15577681:TTA:T | donor_loss | 1.0000 |
| 1:15577682:TACCT:T | donor_loss | 1.0000 |
| 1:15577683:A:C | donor_loss | 1.0000 |
| 1:15577684:CCTGA:C | donor_gain | 1.0000 |
| 1:15578853:TGTCA:T | donor_loss | 1.0000 |
| 1:15578854:GTCAC:G | donor_loss | 1.0000 |
| 1:15578855:TCAC:T | donor_loss | 1.0000 |
| 1:15578856:CACCT:C | donor_loss | 1.0000 |
| 1:15578857:A:AT | donor_loss | 1.0000 |
| 1:15583191:AC:A | donor_gain | 1.0000 |
| 1:15583192:CC:C | donor_gain | 1.0000 |
| 1:15583233:ATAGG:A | donor_gain | 1.0000 |
| 1:15583235:AGG:A | donor_gain | 1.0000 |
| 1:15584690:CCTTA:C | donor_loss | 1.0000 |
| 1:15584691:CTTA:C | donor_loss | 1.0000 |
| 1:15584693:TACC:T | donor_loss | 1.0000 |
| 1:15584695:C:CT | donor_loss | 1.0000 |
| 1:15573723:CC:C | acceptor_gain | 0.9900 |
| 1:15573724:CC:C | acceptor_gain | 0.9900 |
| 1:15573725:C:CC | acceptor_gain | 0.9900 |
| 1:15577863:CC:C | acceptor_gain | 0.9900 |
| 1:15577864:CC:C | acceptor_gain | 0.9900 |
| 1:15577864:CCTG:C | acceptor_loss | 0.9900 |
| 1:15577865:C:G | acceptor_loss | 0.9900 |
| 1:15577866:T:G | acceptor_loss | 0.9900 |
| 1:15578858:CCTGG:C | donor_gain | 0.9900 |
| 1:15579050:CATGC:C | acceptor_gain | 0.9900 |
| 1:15579052:TGC:T | acceptor_gain | 0.9900 |
AlphaMissense
2260 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:15577763:G:C | S274R | 0.997 |
| 1:15577763:G:T | S274R | 0.997 |
| 1:15577765:T:G | S274R | 0.997 |
| 1:15583257:G:C | S137R | 0.966 |
| 1:15583257:G:T | S137R | 0.966 |
| 1:15583259:T:G | S137R | 0.966 |
| 1:15579028:A:T | V184E | 0.965 |
| 1:15584727:C:G | D81H | 0.964 |
| 1:15577764:C:A | S274I | 0.962 |
| 1:15579037:A:G | L181P | 0.961 |
| 1:15573697:A:G | L338P | 0.959 |
| 1:15578914:A:T | I222N | 0.958 |
| 1:15584726:T:A | D81V | 0.958 |
| 1:15580137:C:G | D161H | 0.957 |
| 1:15580115:A:T | I168K | 0.956 |
| 1:15577771:A:C | Y272D | 0.951 |
| 1:15577859:G:C | F242L | 0.949 |
| 1:15577859:G:T | F242L | 0.949 |
| 1:15577861:A:G | F242L | 0.949 |
| 1:15580136:T:A | D161V | 0.944 |
| 1:15579023:C:G | A186P | 0.942 |
| 1:15583375:C:G | R98P | 0.937 |
| 1:15580115:A:C | I168R | 0.936 |
| 1:15573706:G:T | A335E | 0.934 |
| 1:15577761:A:G | F275S | 0.931 |
| 1:15583390:C:T | G93E | 0.929 |
| 1:15577726:C:A | G287W | 0.927 |
| 1:15578911:C:T | G223D | 0.924 |
| 1:15579024:A:C | D185E | 0.924 |
| 1:15579024:A:T | D185E | 0.924 |
dbSNP variants (sampled 300 via entrez): RS1000486626 (1:15584340 C>CA), RS1000558085 (1:15581527 T>C), RS1001036171 (1:15573362 G>C), RS1001043178 (1:15581326 G>T), RS1001088608 (1:15573524 C>T), RS1001293945 (1:15576299 T>A), RS1001719027 (1:15584926 C>A,T), RS1001757774 (1:15573118 G>C), RS1002032942 (1:15574594 T>C), RS1002164898 (1:15585117 G>A,C,T), RS1002299569 (1:15574900 C>T), RS1002357157 (1:15574284 A>G), RS1002533530 (1:15580654 G>A,T), RS1002547997 (1:15580930 G>A), RS1002762985 (1:15586162 G>A)
Disease associations
OMIM: gene MIM:617887 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (1): Moyamoya angiopathy (Orphanet:477768)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004860_117 | Alcoholic chronic pancreatitis | 3.000000e-08 |
| GCST004860_35 | Alcoholic chronic pancreatitis | 6.000000e-09 |
| GCST004860_92 | Alcoholic chronic pancreatitis | 3.000000e-06 |
| GCST007876_63 | Estimated glomerular filtration rate | 4.000000e-16 |
| GCST008058_57 | Estimated glomerular filtration rate | 1.000000e-27 |
| GCST008059_64 | Estimated glomerular filtration rate | 6.000000e-24 |
| GCST008972_155 | Urate levels | 6.000000e-10 |
| GCST012020_63 | Serum metabolite levels | 4.000000e-77 |
| GCST90002383_145 | Hematocrit | 7.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004531 | urate measurement |
| EFO:0004348 | hematocrit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
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 |
|---|---|---|
| bisphenol A | affects expression, decreases expression | 2 |
| (+)-JQ1 compound | decreases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| Aflatoxin B1 | decreases expression, affects expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | decreases expression | 1 |
| abrine | decreases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Fenfluramine | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Silicon Dioxide | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Vanadates | decreases expression | 1 |
| Palmitic Acid | decreases expression | 1 |
| Okadaic Acid | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | increases abundance, increases expression | 1 |
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): alcoholic pancreatitis