NDOR1
gene geneOn this page
Also known as NR1bA350O14.9CIAE1
Summary
NDOR1 (NADPH dependent diflavin oxidoreductase 1, HGNC:29838) is a protein-coding gene on chromosome 9q34.3, encoding NADPH-dependent diflavin oxidoreductase 1 (Q9UHB4). NADPH-dependent reductase which is a central component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. It is a common-essential gene (DepMap: required in 90.5% of cancer cell lines).
This gene encodes an NADPH-dependent diflavin reductase that contains both flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) binding domains. The encoded protein catalyzes the transfer of electrons from NADPH through FAD and FMN cofactors to potential redox partners. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 27158 — RefSeq curated summary.
At a glance
- GWAS associations: 19
- Clinical variants (ClinVar): 157 total
- Cancer dependency (DepMap): dependent in 90.5% of screened cell lines (common-essential)
- MANE Select transcript:
NM_014434
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29838 |
| Approved symbol | NDOR1 |
| Name | NADPH dependent diflavin oxidoreductase 1 |
| Location | 9q34.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | NR1, bA350O14.9, CIAE1 |
| Ensembl gene | ENSG00000188566 |
| Ensembl biotype | protein_coding |
| OMIM | 606073 |
| Entrez | 27158 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron
ENST00000371521, ENST00000427047, ENST00000458322, ENST00000612145, ENST00000613750, ENST00000684003, ENST00000861139, ENST00000938577
RefSeq mRNA: 4 — MANE Select: NM_014434
NM_001144026, NM_001144027, NM_001144028, NM_014434
CCDS: CCDS48061, CCDS48062, CCDS48063, CCDS7036
Canonical transcript exons
ENST00000684003 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003801601 | 137215095 | 137215202 |
| ENSE00003803027 | 137215659 | 137215805 |
| ENSE00003803201 | 137216094 | 137216188 |
| ENSE00003803549 | 137215899 | 137216017 |
| ENSE00003806914 | 137212502 | 137212599 |
| ENSE00003807674 | 137206232 | 137206309 |
| ENSE00003807736 | 137214204 | 137214413 |
| ENSE00003807752 | 137214798 | 137215018 |
| ENSE00003808424 | 137214570 | 137214691 |
| ENSE00003808803 | 137215407 | 137215521 |
| ENSE00003810390 | 137213967 | 137214068 |
| ENSE00003810910 | 137213780 | 137213878 |
| ENSE00003918994 | 137205700 | 137205912 |
| ENSE00003920194 | 137216272 | 137219361 |
Expression profiles
Bgee: expression breadth ubiquitous, 163 present calls, max score 92.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9176 / max 333.5770, expressed in 1809 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 99670 | 23.9176 | 1809 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| granulocyte | CL:0000094 | 92.55 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 86.49 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.49 | gold quality |
| metanephros cortex | UBERON:0010533 | 86.36 | gold quality |
| apex of heart | UBERON:0002098 | 86.20 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 85.99 | gold quality |
| spleen | UBERON:0002106 | 85.93 | gold quality |
| right uterine tube | UBERON:0001302 | 85.75 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 85.68 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 85.63 | gold quality |
| body of stomach | UBERON:0001161 | 85.41 | gold quality |
| tibial nerve | UBERON:0001323 | 84.69 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.65 | gold quality |
| transverse colon | UBERON:0001157 | 84.64 | gold quality |
| right adrenal gland | UBERON:0001233 | 84.63 | gold quality |
| right frontal lobe | UBERON:0002810 | 84.44 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.43 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.31 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.29 | gold quality |
| left uterine tube | UBERON:0001303 | 84.29 | gold quality |
| thyroid gland | UBERON:0002046 | 84.14 | gold quality |
| skin of leg | UBERON:0001511 | 84.11 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 84.09 | gold quality |
| right testis | UBERON:0004534 | 84.08 | gold quality |
| ectocervix | UBERON:0012249 | 84.05 | gold quality |
| left testis | UBERON:0004533 | 83.93 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.84 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 83.73 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.72 | gold quality |
| lower esophagus | UBERON:0013473 | 83.71 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
93 targeting NDOR1, 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-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-520G-5P | 99.99 | 66.76 | 658 |
| HSA-MIR-4650-5P | 99.98 | 64.69 | 999 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-3065-3P | 99.87 | 70.25 | 1407 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-378G | 99.71 | 64.90 | 1106 |
| HSA-MIR-4530 | 99.69 | 66.47 | 1509 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6887-3P | 99.66 | 67.83 | 1778 |
| HSA-MIR-1827 | 99.63 | 68.57 | 3265 |
| HSA-MIR-6836-5P | 99.60 | 65.62 | 1538 |
| HSA-MIR-6132 | 99.60 | 65.83 | 1554 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-762 | 99.58 | 66.61 | 1994 |
| HSA-MIR-7106-5P | 99.53 | 67.47 | 3574 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 90.5% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 4)
- characterized in detail the redox and electron transfer properties of the component flavin-binding domains of protein NR1 (PMID:12631275)
- NR1 may represent a minor pathway in the cell for redox regulation of methionine synthase (PMID:12871938)
- Data show that that all seven currently known NMDAR subunits (NR1, NR2A, NR2B, NR2C, NR2D, NR3A and NR3B) are expressed in astrocytes, but at different levels. (PMID:21152063)
- the molecular basis of recognition between Ndor1 and anamorsin and of the electron transfer process, was investigated. (PMID:23596212)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ndor1 | ENSDARG00000007429 |
| mus_musculus | Ndor1 | ENSMUSG00000006471 |
| rattus_norvegicus | Ndor1 | ENSRNOG00000010616 |
| drosophila_melanogaster | CG13667 | FBGN0035890 |
| caenorhabditis_elegans | WBGENE00001485 |
Paralogs (5): NOS2 (ENSG00000007171), NOS1 (ENSG00000089250), MTRR (ENSG00000124275), POR (ENSG00000127948), NOS3 (ENSG00000164867)
Protein
Protein identifiers
NADPH-dependent diflavin oxidoreductase 1 — Q9UHB4 (reviewed: Q9UHB4)
Alternative names: NADPH-dependent FMN and FAD-containing oxidoreductase, Novel reductase 1
All UniProt accessions (1): Q9UHB4
UniProt curated annotations — full annotation on UniProt →
Function. NADPH-dependent reductase which is a central component of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Transfers electrons from NADPH via its FAD and FMN prosthetic groups to the [2Fe-2S] cluster of CIAPIN1, another key component of the CIA machinery. In turn, this reduced cluster provides electrons for assembly of cytosolic iron-sulfur cluster proteins. It can also reduce the [2Fe-2S] cluster of CISD1 and activate this protein implicated in Fe/S cluster repair. In vitro can fully activate methionine synthase/MTR in the presence of soluble cytochrome b5/CYB5A.
Subunit / interactions. Interacts with CIAPIN1; as part of the cytosolic iron-sulfur (Fe-S) protein assembly (CIA) machinery. Interacts with DCPS.
Subcellular location. Cytoplasm. Perinuclear region.
Tissue specificity. Low expression in brain, heart, kidney, pancreas, prostate and skeletal muscle. Highest levels in the placenta. Expressed in cancer cell lines including promyelocytic leukemia, HeLaS3, chronic myelagenous leukemia, lymphoblastic leukemia, Burkitt’s lymphoma, colorectal adenocarcinoma, lung carcinoma, and melanoma G-361.
Similarity. Belongs to the NADPH-dependent diflavin oxidoreductase NDOR1 family. In the N-terminal section; belongs to the flavodoxin family. In the C-terminal section; belongs to the flavoprotein pyridine nucleotide cytochrome reductase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UHB4-1 | 1 | yes |
| Q9UHB4-2 | 2 | |
| Q9UHB4-3 | 3 | |
| Q9UHB4-4 | 4 |
RefSeq proteins (4): NP_001137498, NP_001137499, NP_001137500, NP_055249* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001094 | Flavdoxin-like | Domain |
| IPR001433 | OxRdtase_FAD/NAD-bd | Domain |
| IPR001709 | Flavoprot_Pyr_Nucl_cyt_Rdtase | Domain |
| IPR003097 | CysJ-like_FAD-binding | Domain |
| IPR008254 | Flavodoxin/NO_synth | Domain |
| IPR017927 | FAD-bd_FR_type | Domain |
| IPR017938 | Riboflavin_synthase-like_b-brl | Homologous_superfamily |
| IPR023173 | NADPH_Cyt_P450_Rdtase_alpha | Homologous_superfamily |
| IPR028879 | NDOR1 | Family |
| IPR029039 | Flavoprotein-like_sf | Homologous_superfamily |
| IPR039261 | FNR_nucleotide-bd | Homologous_superfamily |
Pfam: PF00175, PF00258, PF00667
Enzyme classification (BRENDA):
- EC 1.5.1.30 — flavin reductase (NADPH) (BRENDA: 19 organisms, 71 substrates, 35 inhibitors, 59 Km, 26 kcat entries)
Substrate kinetics (BRENDA)
9 substrates with measured Km, best-characterized 9. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| NADPH | — | 22 |
| FMN | — | 20 |
| FAD | 0.0036–0.236 | 4 |
| RIBOFLAVIN | 0.0013–0.04 | 4 |
| NADH | 0.208–0.65 | 3 |
| 2-THIOFMN | 0.007 | 1 |
| GALACTOFLAVIN | 0.04 | 1 |
| OXIDIZED RIBOFLAVIN | 0.053 | 1 |
| CIBACRON MARINE | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- 2 oxidized [2Fe-2S]-[protein] + NADPH = 2 reduced [2Fe-2S]-[protein] + NADP(+) + H(+) (RHEA:67716)
UniProt features (39 total): binding site 12, strand 8, helix 7, splice variant 4, turn 3, domain 2, chain 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4H2D | X-RAY DIFFRACTION | 1.8 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UHB4-F1 | 93.20 | 0.86 |
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 (12): 416–419; 460; 515–516; 521–525; 558; 596; 12–17; 59–62; 97–106; 132; 350; 382–385
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-2564830 | Cytosolic iron-sulfur cluster assembly |
| R-HSA-1430728 | Metabolism |
MSigDB gene sets: 101 (showing top):
WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_ELECTRON_TRANSPORT_CHAIN, LIAO_METASTASIS, WHN_B, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_NAD_P_H, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, GOMF_FMN_BINDING, GOMF_FAD_BINDING, GOMF_NADPH_BINDING, GOMF_NADP_BINDING, GOMF_FLAVIN_ADENINE_DINUCLEOTIDE_BINDING, GOMF_ADENYL_NUCLEOTIDE_BINDING, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, GOBERT_OLIGODENDROCYTE_DIFFERENTIATION_DN
GO Biological Process (2): iron-sulfur cluster assembly (GO:0016226), electron transport chain (GO:0022900)
GO Molecular Function (12): NADPH-hemoprotein reductase activity (GO:0003958), electron transfer activity (GO:0009055), FMN binding (GO:0010181), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor (GO:0016653), flavin adenine dinucleotide binding (GO:0050660), NADP binding (GO:0050661), NADPH binding (GO:0070402), FAD binding (GO:0071949), NADPH-iron-sulfur [2Fe-2S] protein oxidoreductase activity (GO:0160246), protein binding (GO:0005515), oxidoreductase activity, acting on NAD(P)H (GO:0016651)
GO Cellular Component (6): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), intermediate filament cytoskeleton (GO:0045111), perinuclear region of cytoplasm (GO:0048471), nucleus (GO:0005634)
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 |
|---|---|
| cellular anatomical structure | 4 |
| anion binding | 3 |
| cytoplasm | 2 |
| metallo-sulfur cluster assembly | 1 |
| generation of precursor metabolites and energy | 1 |
| oxidoreductase activity, acting on NAD(P)H, heme protein as acceptor | 1 |
| molecular_function | 1 |
| ribonucleotide binding | 1 |
| catalytic activity | 1 |
| oxidoreductase activity, acting on NAD(P)H | 1 |
| nucleotide binding | 1 |
| adenyl nucleotide binding | 1 |
| NADP binding | 1 |
| flavin adenine dinucleotide binding | 1 |
| oxidoreductase activity, acting on iron-sulfur proteins as donors, NAD or NADP as acceptor | 1 |
| binding | 1 |
| oxidoreductase activity | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoskeleton | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1239 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NDOR1 | CIAPIN1 | Q6FI81 | 964 |
| NDOR1 | DCPS | Q96C86 | 952 |
| NDOR1 | NUBP1 | P53384 | 762 |
| NDOR1 | MTR | Q99707 | 754 |
| NDOR1 | CIAO3 | Q9H6Q4 | 709 |
| NDOR1 | CIAO1 | O76071 | 672 |
| NDOR1 | ABCB7 | O75027 | 667 |
| NDOR1 | GLRX3 | O76003 | 649 |
| NDOR1 | MMS19 | Q96T76 | 649 |
| NDOR1 | CIAO2B | Q9Y3D0 | 642 |
| NDOR1 | LYRM4 | Q9HD34 | 595 |
| NDOR1 | NUBP2 | Q9Y5Y2 | 583 |
| NDOR1 | NFS1 | Q9Y697 | 574 |
| NDOR1 | BOLA2 | Q9H3K6 | 543 |
| NDOR1 | CYCS | P00001 | 543 |
IntAct
122 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CIAPIN1 | GLRX3 | psi-mi:“MI:0914”(association) | 0.960 |
| NDOR1 | CIAPIN1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| CIAPIN1 | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.890 |
| TCHP | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| NDOR1 | TCHP | psi-mi:“MI:0915”(physical association) | 0.780 |
| TCF4 | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| MTUS2 | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NDOR1 | TCF4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NDOR1 | MTUS2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| NDOR1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| EFHC2 | NDOR1 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (64): NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), CIAPIN1 (Two-hybrid), CCDC33 (Two-hybrid), EFHC2 (Two-hybrid), TCHP (Two-hybrid), NDOR1 (Affinity Capture-MS), NDOR1 (Affinity Capture-MS), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid), NDOR1 (Two-hybrid)
ESM2 similar proteins: A2AI05, D3ZDK7, E1BNQ4, O55240, O70249, P21139, P24298, P25409, P50336, P51175, P56602, P97849, Q03426, Q1JPJ0, Q27979, Q2KJF7, Q3T0A0, Q3ZKN0, Q498R1, Q4JIJ2, Q5E9M9, Q5E9T8, Q5R7A2, Q5RK23, Q60714, Q60HD5, Q6AYG0, Q6NRG5, Q6P1M0, Q6P3E7, Q6PCB7, Q6PFP6, Q7TSA0, Q8BNV1, Q8BZG5, Q8C1A3, Q8CHP8, Q8IXI1, Q8JZN7, Q8QZR5
Diamond homologs: A0A2U1KZS6, A0A2U1LIM9, A0A7T9QPQ1, A0KTH4, A1AEV0, A2QS05, A5F3I4, A6TD49, A7MJ63, A7ZQK7, A8A3P5, A8ANX1, A8G9X6, A9LZ73, A9MF16, B1IU77, C5YJG8, O08336, O08394, O19114, O19132, O32214, O54705, O62699, P00388, P00389, P04175, P14779, P16435, P16603, P19618, P29474, P29475, P29476, P29477, P35228, P36587, P37039, P37040, P37116
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
157 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 136 |
| Likely benign | 7 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2555 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:137205832:G:GT | donor_gain | 1.0000 |
| 9:137213775:CACAG:C | acceptor_loss | 1.0000 |
| 9:137213778:A:AG | acceptor_gain | 1.0000 |
| 9:137213779:G:GG | acceptor_gain | 1.0000 |
| 9:137213779:G:GT | acceptor_loss | 1.0000 |
| 9:137213874:CTGGG:C | donor_gain | 1.0000 |
| 9:137213876:GGG:G | donor_gain | 1.0000 |
| 9:137213877:GG:G | donor_gain | 1.0000 |
| 9:137213877:GGG:G | donor_gain | 1.0000 |
| 9:137213878:GG:G | donor_gain | 1.0000 |
| 9:137213879:G:GG | donor_gain | 1.0000 |
| 9:137213879:GTGA:G | donor_loss | 1.0000 |
| 9:137213880:T:G | donor_loss | 1.0000 |
| 9:137214202:A:AG | acceptor_gain | 1.0000 |
| 9:137214203:G:GG | acceptor_gain | 1.0000 |
| 9:137214203:GCCT:G | acceptor_gain | 1.0000 |
| 9:137214370:G:GT | donor_gain | 1.0000 |
| 9:137214567:C:G | acceptor_gain | 1.0000 |
| 9:137214568:A:AG | acceptor_gain | 1.0000 |
| 9:137214569:G:GA | acceptor_gain | 1.0000 |
| 9:137214569:GCT:G | acceptor_gain | 1.0000 |
| 9:137214569:GCTTT:G | acceptor_gain | 1.0000 |
| 9:137214687:GCCAG:G | donor_gain | 1.0000 |
| 9:137214690:AGGTG:A | donor_loss | 1.0000 |
| 9:137214691:GGT:G | donor_loss | 1.0000 |
| 9:137214692:GT:G | donor_loss | 1.0000 |
| 9:137214693:T:G | donor_loss | 1.0000 |
| 9:137214812:AC:A | acceptor_gain | 1.0000 |
| 9:137214813:C:CA | acceptor_gain | 1.0000 |
| 9:137214971:G:GT | donor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000011821 (9:137212730 G>A,C), RS1000246543 (9:137216482 G>A), RS1000316314 (9:137205948 G>A), RS1000521730 (9:137208162 A>G,T), RS1000574292 (9:137218334 G>A), RS1000762532 (9:137219213 A>G), RS1000831270 (9:137211265 G>A), RS1000903179 (9:137218466 G>A,T), RS1001244281 (9:137216861 C>G), RS1001879897 (9:137218921 A>T), RS1001913493 (9:137205120 T>C), RS1001986964 (9:137204743 T>A), RS1001991141 (9:137214135 G>A,T), RS1002022091 (9:137214023 T>A), RS1002105422 (9:137210204 A>G,T)
Disease associations
OMIM: gene MIM:606073 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
19 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_179 | Mean corpuscular volume | 8.000000e-16 |
| GCST004605_48 | Mean corpuscular hemoglobin concentration | 7.000000e-09 |
| GCST004611_49 | High light scatter reticulocyte count | 3.000000e-14 |
| GCST004612_105 | High light scatter reticulocyte percentage of red cells | 2.000000e-16 |
| GCST004619_213 | Reticulocyte fraction of red cells | 7.000000e-18 |
| GCST004622_28 | Reticulocyte count | 7.000000e-14 |
| GCST004630_234 | Mean corpuscular hemoglobin | 6.000000e-21 |
| GCST008058_6 | Estimated glomerular filtration rate | 4.000000e-10 |
| GCST008059_249 | Estimated glomerular filtration rate | 2.000000e-10 |
| GCST90002385_472 | High light scatter reticulocyte count | 9.000000e-32 |
| GCST90002386_393 | High light scatter reticulocyte percentage of red cells | 2.000000e-39 |
| GCST90002387_348 | Immature fraction of reticulocytes | 2.000000e-18 |
| GCST90002390_406 | Mean corpuscular hemoglobin | 5.000000e-56 |
| GCST90002391_248 | Mean corpuscular hemoglobin concentration | 2.000000e-16 |
| GCST90002392_604 | Mean corpuscular volume | 5.000000e-45 |
| GCST90002397_701 | Mean spheric corpuscular volume | 6.000000e-11 |
| GCST90002403_250 | Red blood cell count | 1.000000e-15 |
| GCST90002405_479 | Reticulocyte count | 8.000000e-28 |
| GCST90002406_292 | Reticulocyte fraction of red cells | 3.000000e-38 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004528 | mean corpuscular hemoglobin concentration |
| EFO:0007986 | reticulocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0004305 | erythrocyte count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, affects expression, increases abundance, increases expression | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| aristolochic acid I | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Aldehydes | decreases expression | 1 |
| Arsenic | affects cotreatment, affects expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Catechin | increases expression, affects cotreatment | 1 |
| Niclosamide | decreases expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Smoke | decreases expression | 1 |
| Testosterone | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Sodium Selenite | increases expression | 1 |
| Okadaic Acid | increases expression | 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.