YRDC
gene geneOn this page
Also known as FLJ23476IRIPSUA5
Summary
YRDC (yrdC N6-threonylcarbamoyltransferase domain containing, HGNC:28905) is a protein-coding gene on chromosome 1p34.3, encoding Threonylcarbamoyl-AMP synthase (Q86U90). Cytoplasmic and mitochondrial threonylcarbamoyl-AMP synthase required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. It is a selective cancer dependency (DepMap: 86.8% of cell lines).
Enables L-threonylcarbamoyladenylate synthase. Involved in tRNA threonylcarbamoyladenosine modification. Acts upstream of or within negative regulation of transport. Is active in mitochondrion. Implicated in Galloway-Mowat syndrome.
Source: NCBI Gene 79693 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Galloway-Mowat syndrome 10 (Strong, GenCC)
- GWAS associations: 1
- Clinical variants (ClinVar): 59 total — 3 pathogenic
- Phenotypes (HPO): 43
- Cancer dependency (DepMap): dependent in 86.8% of screened cell lines
- MANE Select transcript:
NM_024640
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28905 |
| Approved symbol | YRDC |
| Name | yrdC N6-threonylcarbamoyltransferase domain containing |
| Location | 1p34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ23476, IRIP, SUA5 |
| Ensembl gene | ENSG00000196449 |
| Ensembl biotype | protein_coding |
| OMIM | 612276 |
| Entrez | 79693 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000373044, ENST00000882854
RefSeq mRNA: 1 — MANE Select: NM_024640
NM_024640
CCDS: CCDS30675
Canonical transcript exons
ENST00000373044 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001403024 | 37807101 | 37807215 |
| ENSE00001423765 | 37806857 | 37806976 |
| ENSE00001426285 | 37804302 | 37804444 |
| ENSE00001459396 | 37802945 | 37803997 |
| ENSE00001459397 | 37807792 | 37808208 |
Expression profiles
Bgee: expression breadth ubiquitous, 255 present calls, max score 93.26.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.2990 / max 446.2443, expressed in 1812 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 11804 | 15.8935 | 1806 |
| 11803 | 2.2773 | 1148 |
| 11802 | 0.1282 | 47 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gingival epithelium | UBERON:0001949 | 93.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.72 | gold quality |
| islet of Langerhans | UBERON:0000006 | 90.54 | gold quality |
| gingiva | UBERON:0001828 | 89.85 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 89.09 | gold quality |
| amniotic fluid | UBERON:0000173 | 88.68 | gold quality |
| squamous epithelium | UBERON:0006914 | 88.60 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 88.24 | silver quality |
| palpebral conjunctiva | UBERON:0001812 | 87.03 | gold quality |
| nephron tubule | UBERON:0001231 | 86.25 | gold quality |
| endothelial cell | CL:0000115 | 86.06 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 85.76 | gold quality |
| mononuclear cell | CL:0000842 | 85.44 | gold quality |
| monocyte | CL:0000576 | 85.43 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.30 | gold quality |
| leukocyte | CL:0000738 | 85.14 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.97 | gold quality |
| upper leg skin | UBERON:0004262 | 84.80 | gold quality |
| pancreas | UBERON:0001264 | 84.48 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.54 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 83.54 | gold quality |
| placenta | UBERON:0001987 | 83.39 | gold quality |
| cortical plate | UBERON:0005343 | 83.27 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.03 | gold quality |
| rectum | UBERON:0001052 | 82.97 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 82.97 | gold quality |
| lower lobe of lung | UBERON:0008949 | 82.97 | gold quality |
| renal glomerulus | UBERON:0000074 | 82.87 | gold quality |
| right testis | UBERON:0004534 | 82.78 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 82.69 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.11 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
54 targeting YRDC, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-103A-3P | 99.98 | 69.14 | 1595 |
| HSA-MIR-107 | 99.98 | 69.14 | 1595 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
| HSA-MIR-6838-5P | 99.89 | 71.94 | 2690 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-3121-3P | 99.82 | 71.96 | 3630 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-466 | 99.67 | 70.85 | 2863 |
| HSA-MIR-6757-3P | 99.63 | 66.88 | 1089 |
| HSA-MIR-24-3P | 99.59 | 69.97 | 1934 |
| HSA-MIR-4524A-5P | 99.57 | 71.73 | 1193 |
| HSA-MIR-4524B-5P | 99.57 | 71.68 | 1195 |
| HSA-MIR-4753-5P | 99.54 | 68.51 | 1356 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-150-3P | 99.43 | 70.51 | 920 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 86.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 6)
- a novel cDNA that encodes a putative human protein with yrdC domain (PMID:12730717)
- hIRIP expression can regulate cargo assembly and function of efflux transporters, including P-glycoprotein, which mediates one of the most common mechanisms of the multidrug resistance (PMID:19279227)
- YrdC promoted the progression of HCC. (PMID:30978526)
- Mutations in YRDC cause an extremely severe form of Galloway-Mowat syndrome (GAMOS), an autosomal recessive disease characterized by early-onset steroid-resistant nephrotic syndrome and microcephaly. (PMID:31481669)
- Biallelic variants in YRDC cause a developmental disorder with progeroid features. (PMID:34545459)
- RNA Structural Dynamics Modulate EGFR-TKI Resistance Through Controlling YRDC Translation in NSCLC Cells. (PMID:36435452)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | yrdc | ENSDARG00000041428 |
| mus_musculus | Yrdc | ENSMUSG00000028889 |
| rattus_norvegicus | Yrdc | ENSRNOG00000025424 |
| drosophila_melanogaster | Tcs1 | FBGN0061361 |
| caenorhabditis_elegans | WBGENE00012997 |
Protein
Protein identifiers
Threonylcarbamoyl-AMP synthase — Q86U90 (reviewed: Q86U90)
Alternative names: Dopamine receptor-interacting protein 3, Ischemia/reperfusion-inducible protein homolog
All UniProt accessions (1): Q86U90
UniProt curated annotations — full annotation on UniProt →
Function. Cytoplasmic and mitochondrial threonylcarbamoyl-AMP synthase required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. Catalyzes the conversion of L-threonine, HCO(3)(-)/CO(2) and ATP to give threonylcarbamoyl-AMP (TC-AMP) as the acyladenylate intermediate, with the release of diphosphate. Participates in t(6)A37 formation in cytoplasmic and mitochondrial tRNAs. May regulate the activity of some transporters.
Subunit / interactions. Interacts with RSC1A1.
Subcellular location. Cytoplasm. Mitochondrion. Cell membrane.
Tissue specificity. Ubiquitously expressed.
Disease relevance. Galloway-Mowat syndrome 10 (GAMOS10) [MIM:619609] A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS10 is an autosomal recessive form with fatal outcome. Patients manifest congenital hypothyroidism in addition to neurologic, renal and dysmorphic features. The disease is caused by variants affecting the gene represented in this entry.
Domain organisation. The mitochondrial targeting sequence (MTS) is weak and only mediates import of a small fraction of YRDC in mitochondria.
Similarity. Belongs to the SUA5 family.
RefSeq proteins (1): NP_078916* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006070 | Sua5-like_dom | Domain |
| IPR017945 | DHBP_synth_RibB-like_a/b_dom | Homologous_superfamily |
| IPR050156 | TC-AMP_synthase_SUA5 | Family |
Pfam: PF01300
Catalyzed reactions (Rhea), 1 shown:
- L-threonine + hydrogencarbonate + ATP = L-threonylcarbamoyladenylate + diphosphate + H2O (RHEA:36407)
UniProt features (10 total): sequence variant 3, mutagenesis site 2, transit peptide 1, chain 1, domain 1, region of interest 1, modified residue 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86U90-F1 | 83.30 | 0.69 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 60
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 15–17 | improved mitochondrial targeting sequence (mts), leading to increased import into mitochondria. |
| 17 | improved mitochondrial targeting sequence (mts), leading to increased import into mitochondria. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6787450 | tRNA modification in the mitochondrion |
MSigDB gene sets: 312 (showing top):
HNF3ALPHA_Q6, NKX25_02, GOBP_TRNA_METABOLIC_PROCESS, LHX3_01, NAGASHIMA_NRG1_SIGNALING_UP, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, CEBP_Q2, NKX62_Q2, OSWALD_HEMATOPOIETIC_STEM_CELL_IN_COLLAGEN_GEL_UP, GOBP_NEGATIVE_REGULATION_OF_TRANSPORT, SRF_C, GOBP_RNA_MODIFICATION, BRN2_01, IRF1_Q6, WTGAAAT_UNKNOWN
GO Biological Process (4): tRNA threonylcarbamoyladenosine modification (GO:0002949), regulation of translational fidelity (GO:0006450), negative regulation of transport (GO:0051051), mitochondrial tRNA modification (GO:0070900)
GO Molecular Function (6): tRNA binding (GO:0000049), double-stranded RNA binding (GO:0003725), nucleotidyltransferase activity (GO:0016779), L-threonylcarbamoyladenylate synthase activity (GO:0061710), protein binding (GO:0005515), transferase activity (GO:0016740)
GO Cellular Component (5): cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| tRNA modification | 2 |
| mitochondrion | 2 |
| RNA binding | 2 |
| cellular anatomical structure | 2 |
| regulation of biological quality | 1 |
| transport | 1 |
| negative regulation of biological process | 1 |
| regulation of transport | 1 |
| mitochondrial tRNA processing | 1 |
| mitochondrial RNA modification | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| nucleotidyltransferase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular organelle lumen | 1 |
| membrane | 1 |
| cell periphery | 1 |
Protein interactions and networks
STRING
1524 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| YRDC | OSGEPL1 | Q9H4B0 | 943 |
| YRDC | RBBP9 | O75884 | 895 |
| YRDC | TPRKB | Q9Y3C4 | 874 |
| YRDC | Q92681 | Q92681 | 873 |
| YRDC | OSGEP | Q9NPF4 | 872 |
| YRDC | LAGE3 | Q14657 | 846 |
| YRDC | TP53RK | Q96S44 | 839 |
| YRDC | SLC6A2 | P23975 | 774 |
| YRDC | SLC22A6 | Q4U2R8 | 771 |
| YRDC | GON7 | Q9BXV9 | 763 |
| YRDC | TRIT1 | Q9H3H1 | 693 |
| YRDC | SLC22A2 | O15244 | 686 |
| YRDC | SLC22A3 | O75751 | 668 |
| YRDC | TRMT5 | Q32P41 | 666 |
| YRDC | CDK5RAP1 | Q96SZ6 | 560 |
IntAct
24 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| DNALI1 | YRDC | psi-mi:“MI:0915”(physical association) | 0.560 |
| BAG6 | YRDC | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLF11 | YRDC | psi-mi:“MI:0915”(physical association) | 0.560 |
| NUP58 | YRDC | psi-mi:“MI:0915”(physical association) | 0.560 |
| SPIN2B | WDHD1 | psi-mi:“MI:0914”(association) | 0.530 |
| SPIN1 | PAX3 | psi-mi:“MI:0914”(association) | 0.530 |
| KHDRBS2 | SUPT5H | psi-mi:“MI:0914”(association) | 0.350 |
| FBLN5 | ZNF320 | psi-mi:“MI:0914”(association) | 0.350 |
| APBA1 | KIF2A | psi-mi:“MI:0914”(association) | 0.350 |
| NTNG1 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| NECAP2 | INPPL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CALM1 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (36): YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Biochemical Activity), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Negative Genetic), YRDC (Positive Genetic), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS), YRDC (Affinity Capture-MS)
ESM2 similar proteins: A0JPF9, A4D126, D2GU20, E1BCH6, E9PYK3, O35465, O60888, O75425, O75808, P43896, P47823, P69678, P97812, Q0VC80, Q13144, Q14318, Q27J81, Q2VPK5, Q3B7U9, Q3TX08, Q3U269, Q496Y0, Q499R4, Q5ND52, Q5RJG7, Q5S6T3, Q64350, Q66KY3, Q6MGD0, Q6ZT62, Q7T0X7, Q7T3C3, Q86U90, Q8BGG6, Q8BYH7, Q8CHW4, Q8HXH0, Q8IYL2, Q91YR5, Q96EN8
Diamond homologs: A1S579, A5GS00, A5VFP2, A6QGV5, A7X283, A8F4E8, A8MC09, A9MHS1, O07451, P28156, P30131, P40596, P45805, P84142, Q02987, Q0VC80, Q0VTD8, Q135C2, Q13J37, Q1IKJ2, Q1MFT8, Q1QLD8, Q211P4, Q2FH34, Q2FYM9, Q2RQZ4, Q2S0V7, Q2YY14, Q3SRU5, Q3U5F4, Q43950, Q499R4, Q55638, Q58123, Q5E4P9, Q5HG16, Q5JDG7, Q5SKS6, Q6G9F7, Q6GH04
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
59 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 16 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1321213 | NM_024640.4(YRDC):c.721_724del (p.Val241fs) | Pathogenic |
| 1321214 | NM_024640.4(YRDC):c.791TCC[1] (p.Leu265del) | Pathogenic |
| 1321215 | NM_024640.4(YRDC):c.662T>C (p.Ile221Thr) | Pathogenic |
SpliceAI
440 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:37803998:C:CC | acceptor_gain | 1.0000 |
| 1:37804295:GACTT:G | donor_loss | 1.0000 |
| 1:37804296:ACTT:A | donor_loss | 1.0000 |
| 1:37804297:CTTAC:C | donor_loss | 1.0000 |
| 1:37804298:TTA:T | donor_loss | 1.0000 |
| 1:37804299:TACC:T | donor_loss | 1.0000 |
| 1:37804300:A:AC | donor_gain | 1.0000 |
| 1:37804300:ACCAG:A | donor_gain | 1.0000 |
| 1:37804301:C:CA | donor_loss | 1.0000 |
| 1:37804301:C:CG | donor_gain | 1.0000 |
| 1:37804301:CCAG:C | donor_gain | 1.0000 |
| 1:37804301:CCAGC:C | donor_gain | 1.0000 |
| 1:37804442:CTC:C | acceptor_gain | 1.0000 |
| 1:37804445:C:CC | acceptor_gain | 1.0000 |
| 1:37804445:CTG:C | acceptor_loss | 1.0000 |
| 1:37806852:CTCA:C | donor_loss | 1.0000 |
| 1:37806853:TCACC:T | donor_loss | 1.0000 |
| 1:37806854:CACC:C | donor_loss | 1.0000 |
| 1:37806973:CAAG:C | acceptor_gain | 1.0000 |
| 1:37806977:C:CC | acceptor_gain | 1.0000 |
| 1:37807094:GACTC:G | donor_loss | 1.0000 |
| 1:37807095:ACTCA:A | donor_loss | 1.0000 |
| 1:37807096:CTCAC:C | donor_loss | 1.0000 |
| 1:37807097:TCA:T | donor_loss | 1.0000 |
| 1:37807098:CA:C | donor_loss | 1.0000 |
| 1:37807099:A:AC | donor_gain | 1.0000 |
| 1:37807099:ACAGG:A | donor_gain | 1.0000 |
| 1:37807100:C:CT | donor_gain | 1.0000 |
| 1:37807100:CA:C | donor_gain | 1.0000 |
| 1:37807100:CAG:C | donor_gain | 1.0000 |
AlphaMissense
1766 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:37806896:A:C | S195R | 0.999 |
| 1:37806896:A:T | S195R | 0.999 |
| 1:37806898:T:G | S195R | 0.999 |
| 1:37804347:A:T | V241D | 0.998 |
| 1:37807851:C:A | K110N | 0.998 |
| 1:37807851:C:G | K110N | 0.998 |
| 1:37807918:T:A | D88V | 0.998 |
| 1:37804439:G:C | F210L | 0.997 |
| 1:37804439:G:T | F210L | 0.997 |
| 1:37804440:A:G | F210S | 0.997 |
| 1:37804441:A:G | F210L | 0.997 |
| 1:37806894:G:T | A196D | 0.997 |
| 1:37806897:C:T | S195N | 0.997 |
| 1:37807906:C:T | G92D | 0.997 |
| 1:37807919:C:A | D88Y | 0.997 |
| 1:37807919:C:G | D88H | 0.997 |
| 1:37807927:A:T | V85D | 0.997 |
| 1:37807930:G:T | A84D | 0.997 |
| 1:37806897:C:A | S195I | 0.996 |
| 1:37806906:G:T | A192D | 0.996 |
| 1:37807113:G:C | N164K | 0.996 |
| 1:37807113:G:T | N164K | 0.996 |
| 1:37807820:A:G | C121R | 0.996 |
| 1:37804322:A:C | F249L | 0.995 |
| 1:37804322:A:T | F249L | 0.995 |
| 1:37804324:A:G | F249L | 0.995 |
| 1:37804410:A:T | V220D | 0.995 |
| 1:37806890:G:C | N197K | 0.995 |
| 1:37806890:G:T | N197K | 0.995 |
| 1:37806903:A:G | L193P | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1001173441 (1:37806473 G>A,C), RS1001204513 (1:37806668 G>A), RS10015 (1:37802983 G>A), RS1002263352 (1:37805378 C>T), RS1002294536 (1:37805119 G>A), RS1003104554 (1:37808586 C>A,T), RS1003294692 (1:37803688 C>G), RS1003420581 (1:37809040 A>C,G), RS1003472677 (1:37809824 G>A,C), RS1004159505 (1:37809827 C>T), RS1004190639 (1:37810134 C>T), RS1004492793 (1:37808265 G>C,T), RS1004523861 (1:37808414 G>A), RS1004556513 (1:37808600 C>G), RS1004643690 (1:37809278 A>G)
Disease associations
OMIM: gene MIM:612276 | disease phenotypes: MIM:619609
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Galloway-Mowat syndrome 10 | Strong | Autosomal recessive |
Mondo (1): Galloway-Mowat syndrome 10 (MONDO:0030476)
Orphanet (0):
HPO phenotypes
43 total (30 of 43 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000093 | Proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0000112 | Nephropathy |
| HP:0000164 | Abnormality of the dentition |
| HP:0000252 | Microcephaly |
| HP:0000316 | Hypertelorism |
| HP:0000347 | Micrognathia |
| HP:0000400 | Macrotia |
| HP:0000601 | Hypotelorism |
| HP:0000851 | Congenital hypothyroidism |
| HP:0001166 | Arachnodactyly |
| HP:0001181 | Adducted thumb |
| HP:0001250 | Seizure |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
| HP:0001272 | Cerebellar atrophy |
| HP:0001276 | Hypertonia |
| HP:0001302 | Pachygyria |
| HP:0001336 | Myoclonus |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001622 | Premature birth |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0002036 | Hiatus hernia |
| HP:0002059 | Cerebral atrophy |
| HP:0002188 | Delayed CNS myelination |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0002353 | EEG abnormality |
| HP:0002410 | Aqueductal stenosis |
| HP:0003577 | Congenital onset |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003476_2 | Eyebrow thickness | 7.000000e-06 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
59 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cyclosporine | increases expression | 3 |
| sodium arsenite | affects cotreatment, decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, increases expression, decreases expression | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| Asbestos, Crocidolite | decreases expression, increases expression | 2 |
| Particulate Matter | increases expression, decreases expression, increases abundance | 2 |
| FR900359 | affects phosphorylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| afimoxifene | decreases reaction, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| K 7174 | increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| elesclomol | increases expression | 1 |
| (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: Galloway-Mowat syndrome 10
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Galloway-Mowat syndrome 10