CIAO3
gene geneOn this page
Also known as FLJ21988PRNHPRNIOP1NAR1
Summary
CIAO3 (cytosolic iron-sulfur assembly component 3, HGNC:14179) is a protein-coding gene on chromosome 16p13.3, encoding Cytosolic iron-sulfur assembly component 3 (Q9H6Q4). Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Predicted to enable 4 iron, 4 sulfur cluster binding activity and metal ion binding activity. Involved in several processes, including intracellular oxygen homeostasis; iron-sulfur cluster assembly; and response to hypoxia. Part of cytosolic [4Fe-4S] assembly targeting complex.
Source: NCBI Gene 64428 — RefSeq curated summary.
At a glance
- Gene–disease (curated): pulmonary arteriovenous malformation (Limited, GenCC)
- GWAS associations: 8
- Clinical variants (ClinVar): 116 total
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_022493
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14179 |
| Approved symbol | CIAO3 |
| Name | cytosolic iron-sulfur assembly component 3 |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ21988, PRN, HPRN, IOP1, NAR1 |
| Ensembl gene | ENSG00000103245 |
| Ensembl biotype | protein_coding |
| OMIM | 611118 |
| Entrez | 64428 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 12 protein_coding, 6 protein_coding_CDS_not_defined, 5 retained_intron, 4 nonsense_mediated_decay
ENST00000251588, ENST00000540986, ENST00000562421, ENST00000562752, ENST00000562862, ENST00000563051, ENST00000563534, ENST00000564285, ENST00000565065, ENST00000565341, ENST00000565425, ENST00000565693, ENST00000566614, ENST00000566650, ENST00000567172, ENST00000567403, ENST00000567455, ENST00000568545, ENST00000569759, ENST00000570066, ENST00000570289, ENST00000873908, ENST00000873909, ENST00000873910, ENST00000938080, ENST00000938081, ENST00000946067
RefSeq mRNA: 2 — MANE Select: NM_022493
NM_001304799, NM_022493
CCDS: CCDS10425, CCDS76798
Canonical transcript exons
ENST00000251588 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001804243 | 729765 | 730655 |
| ENSE00003479322 | 734229 | 734347 |
| ENSE00003483053 | 739643 | 739738 |
| ENSE00003484486 | 730843 | 731000 |
| ENSE00003543550 | 732301 | 732373 |
| ENSE00003569553 | 731565 | 731702 |
| ENSE00003611661 | 734737 | 734871 |
| ENSE00003632127 | 740920 | 740997 |
| ENSE00003667404 | 737186 | 737329 |
| ENSE00003671916 | 733298 | 733427 |
| ENSE00003756943 | 736266 | 736398 |
Expression profiles
Bgee: expression breadth ubiquitous, 195 present calls, max score 93.76.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.3209 / max 100.7958, expressed in 1802 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 155784 | 13.3480 | 1798 |
| 155782 | 0.3810 | 199 |
| 155783 | 0.3712 | 167 |
| 155780 | 0.1913 | 56 |
| 155781 | 0.0294 | 15 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| apex of heart | UBERON:0002098 | 93.76 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.27 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.65 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.79 | gold quality |
| right frontal lobe | UBERON:0002810 | 91.68 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 91.26 | gold quality |
| metanephros cortex | UBERON:0010533 | 91.26 | gold quality |
| right uterine tube | UBERON:0001302 | 91.08 | gold quality |
| cerebellum | UBERON:0002037 | 91.05 | gold quality |
| prefrontal cortex | UBERON:0000451 | 89.88 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 89.81 | gold quality |
| cingulate cortex | UBERON:0003027 | 89.78 | gold quality |
| skin of leg | UBERON:0001511 | 89.68 | gold quality |
| pancreatic ductal cell | CL:0002079 | 89.55 | silver quality |
| adenohypophysis | UBERON:0002196 | 89.39 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.32 | gold quality |
| skin of abdomen | UBERON:0001416 | 89.18 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 89.03 | gold quality |
| transverse colon | UBERON:0001157 | 88.86 | gold quality |
| right lobe of liver | UBERON:0001114 | 88.80 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 88.80 | gold quality |
| pituitary gland | UBERON:0000007 | 88.69 | gold quality |
| minor salivary gland | UBERON:0001830 | 88.67 | gold quality |
| sural nerve | UBERON:0015488 | 88.67 | gold quality |
| body of stomach | UBERON:0001161 | 88.60 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 88.55 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 88.39 | gold quality |
| putamen | UBERON:0001874 | 88.21 | gold quality |
| neocortex | UBERON:0001950 | 88.03 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.29 |
| E-GEOD-110499 | no | 59.43 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
12 targeting CIAO3, 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-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-4779 | 99.86 | 66.50 | 1583 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-532-3P | 99.34 | 65.76 | 1195 |
| HSA-MIR-6071 | 99.16 | 67.77 | 1780 |
| HSA-MIR-939-3P | 98.97 | 65.07 | 2347 |
| HSA-MIR-4260 | 98.78 | 65.37 | 848 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-4660 | 97.79 | 67.44 | 1328 |
| HSA-MIR-1224-3P | 97.24 | 65.92 | 851 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 6)
- IOP1 is involved in mammalian cytosolic Fe-S protein maturation. (PMID:18270200)
- human IscA1 plays an important role in both mitochondrial and cytosolic iron-sulfur cluster biogenesis, and a notable component of the latter is the interaction between IscA1 and IOP1. (PMID:19864422)
- MMS19 interacts with target proteins. MIP18 has a role to bridge MMS19 and CIAO1. CIAO1 also binds IOP1. (PMID:23585563)
- we concluded that the Ser161Ile mutant induced NARFL deficiency and eventually diffuse PAVMs probably through VEGF pathway. In a word, we detected a functional mutation in NARFL, which might be the pathogenic gene in this pedigree. (PMID:27835862)
- CIAO3 protein forms a stable ternary complex with two key players of the human cytosolic iron-sulfur cluster assembly machinery. (PMID:32222833)
- NARFL deficiency caused mitochondrial dysfunction in lung cancer cells by HIF-1alpha-DNMT1 axis. (PMID:37821486)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | narfl | ENSDARG00000062216 |
| mus_musculus | Ciao3 | ENSMUSG00000002280 |
| rattus_norvegicus | Ciao3 | ENSRNOG00000019522 |
Paralogs (2): NDUFS1 (ENSG00000023228), NARF (ENSG00000141562)
Protein
Protein identifiers
Cytosolic iron-sulfur assembly component 3 — Q9H6Q4 (reviewed: Q9H6Q4)
Alternative names: Cytosolic Fe-S cluster assembly factor NARFL, Iron-only hydrogenase-like protein 1, Nuclear prelamin A recognition factor-like protein, Protein related to Narf
All UniProt accessions (8): Q9H6Q4, B4DEE7, H3BPX8, H3BQ03, H3BSH2, H3BSJ7, H3BUF3, I3L2A3
UniProt curated annotations — full annotation on UniProt →
Function. Component of the cytosolic iron-sulfur protein assembly (CIA) complex, a multiprotein complex that mediates the incorporation of iron-sulfur cluster into extramitochondrial Fe/S proteins. Seems to negatively regulate the level of HIF1A expression, although this effect could be indirect.
Subunit / interactions. External component of the CIA complex. In the CIA complex, interacts directly with CIAO1 and MMS19.
Tissue specificity. Widely expressed.
Similarity. Belongs to the NARF family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H6Q4-1 | 1 | yes |
| Q9H6Q4-2 | 2 | |
| Q9H6Q4-3 | 3 |
RefSeq proteins (2): NP_001291728, NP_071938* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003149 | Fe_hydrogenase_ssu | Domain |
| IPR004108 | Fe_hydrogenase_lsu_C | Domain |
| IPR009016 | Fe_hydrogenase | Homologous_superfamily |
| IPR050340 | Cytosolic_Fe-S_CAF | Family |
Pfam: PF02256, PF02906
UniProt features (16 total): binding site 8, splice variant 2, sequence variant 2, initiator methionine 1, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H6Q4-F1 | 86.63 | 0.72 |
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): 24; 71; 74; 77; 190; 246; 395; 399
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly |
MSigDB gene sets: 74 (showing top):
VERHAAK_AML_WITH_NPM1_MUTATED_DN, GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_RESPONSE_TO_OXYGEN_LEVELS, GOBP_RESPONSE_TO_ABIOTIC_STIMULUS, GOBP_HOMEOSTATIC_PROCESS, GOBP_CHEMICAL_HOMEOSTASIS, NIKOLSKY_BREAST_CANCER_16P13_AMPLICON, GOMF_METAL_CLUSTER_BINDING, GOMF_4_IRON_4_SULFUR_CLUSTER_BINDING, GOBP_INTRACELLULAR_OXYGEN_HOMEOSTASIS, GOCC_CYTOSOLIC_4FE_4S_ASSEMBLY_TARGETING_COMPLEX, VALK_AML_CLUSTER_13, REACTOME_CYTOSOLIC_IRON_SULFUR_CLUSTER_ASSEMBLY, GSE5503_MLN_DC_VS_SPLEEN_DC_ACTIVATED_ALLOGENIC_TCELL_DN, DACH1_TARGET_GENES
GO Biological Process (5): response to hypoxia (GO:0001666), hematopoietic progenitor cell differentiation (GO:0002244), regulation of gene expression (GO:0010468), iron-sulfur cluster assembly (GO:0016226), intracellular oxygen homeostasis (GO:0032364)
GO Molecular Function (4): metal ion binding (GO:0046872), 4 iron, 4 sulfur cluster binding (GO:0051539), protein binding (GO:0005515), iron-sulfur cluster binding (GO:0051536)
GO Cellular Component (1): cytosolic [4Fe-4S] assembly targeting complex (GO:0097361)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| response to stress | 1 |
| response to decreased oxygen levels | 1 |
| hemopoiesis | 1 |
| cell differentiation | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| metallo-sulfur cluster assembly | 1 |
| intracellular chemical homeostasis | 1 |
| cation binding | 1 |
| iron-sulfur cluster binding | 1 |
| binding | 1 |
| metal cluster binding | 1 |
| intracellular protein-containing complex | 1 |
| iron-sulfur cluster assembly complex | 1 |
Protein interactions and networks
STRING
890 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| CIAO3 | MMS19 | Q96T76 | 975 |
| CIAO3 | CIAO1 | O76071 | 971 |
| CIAO3 | NUBP1 | P53384 | 906 |
| CIAO3 | CIAPIN1 | Q6FI81 | 889 |
| CIAO3 | CIAO2B | Q9Y3D0 | 878 |
| CIAO3 | ISCA1 | Q9BUE6 | 793 |
| CIAO3 | LYRM4 | Q9HD34 | 745 |
| CIAO3 | NFS1 | Q9Y697 | 742 |
| CIAO3 | ISCU | Q9H1K1 | 713 |
| CIAO3 | ABCB7 | O75027 | 709 |
| CIAO3 | NDOR1 | Q9UHB4 | 709 |
| CIAO3 | NUBP2 | Q9Y5Y2 | 709 |
| CIAO3 | CIAO2A | Q9H5X1 | 702 |
| CIAO3 | EGLN1 | Q9GZT9 | 687 |
| CIAO3 | ABCE1 | P61221 | 665 |
IntAct
31 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CIAO2A | CIAO1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| CIAO2B | CIAO1 | psi-mi:“MI:0915”(physical association) | 0.950 |
| CIAO2A | CIAO1 | psi-mi:“MI:0914”(association) | 0.950 |
| MMS19 | CIAO1 | psi-mi:“MI:0914”(association) | 0.910 |
| TULP3 | GGPS1 | psi-mi:“MI:0914”(association) | 0.640 |
| CIAO3 | psi-mi:“MI:0407”(direct interaction) | 0.560 | |
| CIAO3 | INPPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZBTB39 | FOXK2 | psi-mi:“MI:0914”(association) | 0.530 |
| DTX3 | ITSN1 | psi-mi:“MI:0914”(association) | 0.530 |
| MMS19 | CIAO3 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| NAA10 | OFD1 | psi-mi:“MI:0914”(association) | 0.480 |
| CIAO1 | CIAO3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MYH9 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| RGS20 | PGP | psi-mi:“MI:0914”(association) | 0.350 |
| DTX3 | NDUFS6 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB39 | FOXK1 | psi-mi:“MI:0914”(association) | 0.350 |
| NUBP2 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CCNO | FOXN3 | psi-mi:“MI:0914”(association) | 0.350 |
| NAA11 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO2A | psi-mi:“MI:0914”(association) | 0.350 | |
| NUBP2 | TK2 | psi-mi:“MI:0914”(association) | 0.350 |
| DTX3 | RAD50 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO2A | MAP2K7 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO3 | NUBP1 | psi-mi:“MI:0914”(association) | 0.350 |
| FAXC | HAT1 | psi-mi:“MI:0914”(association) | 0.350 |
| DSCR9 | CIAO3 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (64): NARFL (Affinity Capture-RNA), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-Western), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-MS), ARNT (Affinity Capture-MS), WDFY1 (Affinity Capture-MS), INPPL1 (Affinity Capture-MS), NARFL (Affinity Capture-Western), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-MS), NARFL (Affinity Capture-Western)
ESM2 similar proteins: A2RRV9, A4FV58, A4QN59, A7SDA8, A8PGQ3, A8WH18, A8XZU0, B0WU52, B3N018, B3NKH7, B4GXC8, B4IMH3, B4ISL0, B4JBE6, B4KFU7, B4LQR5, B4MUM8, B4NSS7, B5DK31, B6K2N0, O43837, O77784, P29696, P37223, P41565, P51553, P70404, Q16ML2, Q28479, Q2YDU6, Q58CP0, Q5BK18, Q5RBT4, Q5RF36, Q68FX0, Q6CFR3, Q6DE00, Q6DHP6, Q6GP25, Q6ING7
Diamond homologs: A1CIC2, A1CWD8, A2Q9A9, A2RRV9, A3LYR2, A4FV58, A5DKC0, A5DSI2, A6RR15, A6ZRK3, A7E7C4, A7SDA8, A7TQP0, A8PGQ3, A8WH18, A8XZU0, B0WU52, B0Y4F9, B3N018, B3NKH7, B4GXC8, B4IMH3, B4ISL0, B4JBE6, B4KFU7, B4LQR5, B4MUM8, B4NSS7, B5DK31, B6HUC4, B6K2N0, B6QQH9, B8N122, B9W8S4, P0CP10, P0CP11, P23503, P53998, Q0CR17, Q0UM75
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CIAO3 | “form complex” | “CIAO2B cytosolic iron-sulfur protein assembly complex” | binding |
| CIAO3 | “form complex” | “CIAO1-CIAO2A-CIAO3 cytosolic iron-sulfur protein assembly complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 32 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 iron-sulfur cluster assembly | 5 | 173.0× | 7e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein maturation | 5 | 27.3× | 2e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
116 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 85 |
| Likely benign | 11 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2394 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:730656:C:CC | acceptor_gain | 1.0000 |
| 16:730656:CTAT:C | acceptor_loss | 1.0000 |
| 16:730657:T:C | acceptor_loss | 1.0000 |
| 16:730802:C:CA | donor_gain | 1.0000 |
| 16:730863:T:TA | donor_gain | 1.0000 |
| 16:730886:C:CA | donor_gain | 1.0000 |
| 16:731001:C:CA | acceptor_loss | 1.0000 |
| 16:731001:C:CC | acceptor_gain | 1.0000 |
| 16:731002:T:A | acceptor_loss | 1.0000 |
| 16:731561:TGA:T | donor_loss | 1.0000 |
| 16:731563:A:T | donor_loss | 1.0000 |
| 16:731564:C:T | donor_loss | 1.0000 |
| 16:732295:A:AC | donor_gain | 1.0000 |
| 16:732296:C:CC | donor_gain | 1.0000 |
| 16:732296:CGTA:C | donor_gain | 1.0000 |
| 16:732297:GTACA:G | donor_loss | 1.0000 |
| 16:732298:TAC:T | donor_loss | 1.0000 |
| 16:732299:A:AC | donor_gain | 1.0000 |
| 16:732299:A:C | donor_loss | 1.0000 |
| 16:732299:ACAGG:A | donor_gain | 1.0000 |
| 16:732300:C:CT | donor_gain | 1.0000 |
| 16:732300:CA:C | donor_gain | 1.0000 |
| 16:732300:CAGG:C | donor_gain | 1.0000 |
| 16:732300:CAGGC:C | donor_gain | 1.0000 |
| 16:732371:CTC:C | acceptor_gain | 1.0000 |
| 16:732372:TCCTG:T | acceptor_loss | 1.0000 |
| 16:732374:C:CC | acceptor_gain | 1.0000 |
| 16:732374:C:T | acceptor_loss | 1.0000 |
| 16:733292:CCGCA:C | donor_loss | 1.0000 |
| 16:733293:CGCA:C | donor_loss | 1.0000 |
AlphaMissense
3098 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:734345:A:G | W193R | 0.995 |
| 16:734345:A:T | W193R | 0.995 |
| 16:733375:T:A | K249I | 0.994 |
| 16:733383:G:C | C246W | 0.994 |
| 16:733384:C:T | C246Y | 0.994 |
| 16:733385:A:G | C246R | 0.994 |
| 16:730925:G:C | F370L | 0.993 |
| 16:730925:G:T | F370L | 0.993 |
| 16:730927:A:G | F370L | 0.993 |
| 16:734332:G:T | A197D | 0.993 |
| 16:734743:A:G | C190R | 0.993 |
| 16:730852:A:G | C395R | 0.992 |
| 16:733357:C:G | R255T | 0.992 |
| 16:734328:C:A | E198D | 0.992 |
| 16:734328:C:G | E198D | 0.992 |
| 16:737279:G:C | C71W | 0.992 |
| 16:733374:T:A | K249N | 0.991 |
| 16:733374:T:G | K249N | 0.991 |
| 16:737281:A:G | C71R | 0.991 |
| 16:730850:G:C | C395W | 0.990 |
| 16:730926:A:G | F370S | 0.990 |
| 16:733364:C:G | A253P | 0.990 |
| 16:734741:G:C | C190W | 0.990 |
| 16:734742:C:T | C190Y | 0.990 |
| 16:737280:C:G | C71S | 0.990 |
| 16:737281:A:T | C71S | 0.990 |
| 16:730851:C:T | C395Y | 0.989 |
| 16:734264:C:G | G220R | 0.988 |
| 16:734333:C:G | A197P | 0.988 |
| 16:737262:C:G | C77S | 0.988 |
dbSNP variants (sampled 300 via entrez): RS1000006549 (16:738058 C>T), RS1000147633 (16:738283 TGGTTCA>T), RS1000322096 (16:734248 T>C), RS1000398460 (16:730102 G>A), RS1000441451 (16:738219 A>G), RS1000769425 (16:729928 C>A,G,T), RS1000982054 (16:729804 G>A), RS1001010041 (16:729924 AC>A,ACC,ACCC,ACCCC), RS1001520964 (16:737800 G>A,T), RS1001553578 (16:737980 C>A,T), RS1001644485 (16:731438 TCCAAAC>T), RS1001820836 (16:729673 G>A,C), RS1002381940 (16:741581 T>C), RS1002418827 (16:739298 C>G), RS1002492694 (16:739530 C>A,G)
Disease associations
OMIM: gene MIM:611118 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| pulmonary arteriovenous malformation | Limited | Autosomal recessive |
Mondo (1): (MONDO:0009930)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_82 | Height | 1.000000e-13 |
| GCST002702_92 | Height | 6.000000e-08 |
| GCST008163_25 | Height | 4.000000e-06 |
| GCST008839_40 | Height | 1.000000e-07 |
| GCST012226_378 | Waist circumference adjusted for body mass index | 7.000000e-15 |
| GCST012227_358 | Hip circumference adjusted for BMI | 8.000000e-21 |
| GCST90000025_245 | Appendicular lean mass | 3.000000e-40 |
| GCST90020028_1482 | Hip circumference adjusted for BMI | 3.000000e-12 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007789 | BMI-adjusted waist circumference |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C562404 | Pulmonary Arteriovenous Fistulas (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol F | affects cotreatment, increases methylation, increases expression | 2 |
| sodium arsenite | affects expression, decreases expression | 2 |
| alpha-pinene | increases abundance, affects cotreatment, increases oxidation | 1 |
| methacrylaldehyde | increases abundance, affects cotreatment, increases oxidation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| pyrimidifen | decreases expression | 1 |
| abrine | increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Acrolein | affects cotreatment, increases oxidation, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases oxidation | 1 |
| Arsenic | affects methylation | 1 |
| Atrazine | decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Ozone | increases oxidation, increases abundance, affects cotreatment | 1 |
| Rotenone | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cyclosporine | decreases methylation | 1 |
| Acrylamide | decreases expression | 1 |
| Volatile Organic Compounds | affects cotreatment, increases oxidation | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.