RHNO1
gene geneOn this page
Also known as HKMT1188MGC13204RHINO
Summary
RHNO1 (RAD9-HUS1-RAD1 interacting nuclear orphan 1, HGNC:28206) is a protein-coding gene on chromosome 12p13.33, encoding RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 (Q9BSD3). Involved in microhomology-mediated end-joining (MMEJ) DNA repair by promoting recruitment of polymerase theta (POLQ) to DNA damage sites during mitosis.
Enables chromatin-protein adaptor activity. Involved in several processes, including DNA repair; cellular response to radiation; and regulation of cell cycle process. Located in chromosome and nucleus. Is active in chromatin and site of double-strand break.
Source: NCBI Gene 83695 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 11 total
- MANE Select transcript:
NM_001252499
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28206 |
| Approved symbol | RHNO1 |
| Name | RAD9-HUS1-RAD1 interacting nuclear orphan 1 |
| Location | 12p13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | HKMT1188, MGC13204, RHINO |
| Ensembl gene | ENSG00000171792 |
| Ensembl biotype | protein_coding |
| OMIM | 614085 |
| Entrez | 83695 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 8 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 TEC
ENST00000366285, ENST00000461997, ENST00000464682, ENST00000489288, ENST00000535978, ENST00000536063, ENST00000538636, ENST00000538700, ENST00000618250, ENST00000623153, ENST00000949626, ENST00000949627
RefSeq mRNA: 4 — MANE Select: NM_001252499
NM_001252499, NM_001252500, NM_001257097, NM_001257098
CCDS: CCDS58199, CCDS8518
Canonical transcript exons
ENST00000489288 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002039390 | 2885283 | 2885534 |
| ENSE00002295848 | 2887911 | 2889524 |
| ENSE00003605040 | 2877223 | 2877282 |
Expression profiles
Bgee: expression breadth ubiquitous, 235 present calls, max score 96.32.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0615 / max 4.2690, expressed in 13 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 123454 | 49.5906 | 1817 |
| 123453 | 0.0615 | 13 |
Top tissues by expression
252 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 96.32 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.34 | gold quality |
| cortical plate | UBERON:0005343 | 94.92 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.16 | gold quality |
| oviduct epithelium | UBERON:0004804 | 90.50 | gold quality |
| bone marrow cell | CL:0002092 | 88.56 | gold quality |
| islet of Langerhans | UBERON:0000006 | 86.37 | gold quality |
| rectum | UBERON:0001052 | 85.89 | gold quality |
| granulocyte | CL:0000094 | 85.82 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.58 | gold quality |
| prefrontal cortex | UBERON:0000451 | 85.58 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 85.58 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 85.29 | gold quality |
| bone marrow | UBERON:0002371 | 85.09 | gold quality |
| vermiform appendix | UBERON:0001154 | 85.08 | gold quality |
| esophagus mucosa | UBERON:0002469 | 85.03 | gold quality |
| lymph node | UBERON:0000029 | 84.47 | gold quality |
| gall bladder | UBERON:0002110 | 84.40 | gold quality |
| fallopian tube | UBERON:0003889 | 83.79 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 83.77 | gold quality |
| adrenal tissue | UBERON:0018303 | 83.62 | gold quality |
| ileal mucosa | UBERON:0000331 | 83.51 | gold quality |
| skin of abdomen | UBERON:0001416 | 83.45 | gold quality |
| skin of leg | UBERON:0001511 | 83.31 | gold quality |
| adenohypophysis | UBERON:0002196 | 83.25 | gold quality |
| leukocyte | CL:0000738 | 83.22 | gold quality |
| prostate gland | UBERON:0002367 | 82.97 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.92 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 82.80 | gold quality |
| caudate nucleus | UBERON:0001873 | 82.77 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6142 | no | 243.17 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 8)
- Identified C12orf32 to be significantly up-regulated in the great majority of clinical breast cancer specimens. (PMID:20811708)
- We suggest that RHINO functions together with the 9-1-1 complex and TopBP1 to fully activate ATR (ataxia telangiectasia and Rad3-related. (PMID:21659603)
- Germline variation in the RHINO gene is unlikely to influence inherited susceptibility to breast cancer. (PMID:24562772)
- Knockdown of RHINO in human cells partially abrogated ATR-Chk1 kinase signaling following UV irradiation but did not impact the loading of Rad9-Hus1-Rad1 complex on chromatin or the association of Rad9-Hus1-Rad1 complex with TopBP1. (PMID:25602520)
- Co-regulation and function of FOXM1/RHNO1 bidirectional genes in cancer. (PMID:33890574)
- RHNO1 disruption inhibits cell proliferation and induces mitochondrial apoptosis via PI3K/Akt pathway in hepatocellular carcinoma. (PMID:37364391)
- RHINO directs MMEJ to repair DNA breaks in mitosis. (PMID:37440612)
- Structural basis for intra- and intermolecular interactions on RAD9 subunit of 9-1-1 checkpoint clamp implies functional 9-1-1 regulation by RHINO. (PMID:38354779)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rhno1 | ENSMUSG00000048668 |
| rattus_norvegicus | Rhno1 | ENSRNOG00000028517 |
| rattus_norvegicus | Rhno1-ps2 | ENSRNOG00000067361 |
Protein
Protein identifiers
RAD9, HUS1, RAD1-interacting nuclear orphan protein 1 — Q9BSD3 (reviewed: Q9BSD3)
Alternative names: RAD9, RAD1, HUS1-interacting nuclear orphan protein
All UniProt accessions (5): Q9BSD3, F5H0U1, F5H580, F5H795, F5H7S2
UniProt curated annotations — full annotation on UniProt →
Function. Involved in microhomology-mediated end-joining (MMEJ) DNA repair by promoting recruitment of polymerase theta (POLQ) to DNA damage sites during mitosis. MMEJ is an alternative non-homologous end-joining (NHEJ) machinery that takes place during mitosis to repair double-strand breaks in DNA that originate in S-phase. Accumulates in M-phase; following phosphorylation by PLK1, interacts with POLQ, enabling its recruitment to double-strand breaks for subsequent repair. Also involved in the DNA damage response (DDR) signaling in response to genotoxic stresses such as ionizing radiation (IR) during the S phase. Recruited to sites of DNA damage through interaction with the 9-1-1 cell-cycle checkpoint response complex and TOPBP1 in a ATR-dependent manner. Required for the progression of the G1 to S phase transition. Plays a role in the stimulation of CHEK1 phosphorylation.
Subunit / interactions. Interacts (when phosphorylated by PLK1) with POLQ; promoting POLQ recruitment to DNA damage sites. Interacts with RAD1; interaction is direct and promotes association with the 9-1-1 (RAD9-RAD1-HUS1) complex. Interacts with RAD18. Interacts with TOPBP1. Interacts with UBE2N.
Subcellular location. Nucleus. Chromosome.
Tissue specificity. Weakly expressed in testis, prostate, ovary, thymus and small intestine. Expressed strongly in breast cancer cells.
Post-translational modifications. Phosphorylated at Ser-51 by PLK1, promoting interaction with polymerase theta (POLQ). Ubiquitinated and degraded by the APC/C complex upon mitotic exit.
Domain organisation. The RAD1-binding motif mediates interaction with RAD1.
Induction. Up-regulated in breast cancer cells.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BSD3-1 | 1 | yes |
| Q9BSD3-2 | 2 |
RefSeq proteins (4): NP_001239428, NP_001239429, NP_001244026, NP_001244027 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR029293 | RHNO1 | Family |
Pfam: PF15319
UniProt features (18 total): mutagenesis site 8, short sequence motif 3, region of interest 2, compositionally biased region 2, chain 1, modified residue 1, splice variant 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6J8Y | X-RAY DIFFRACTION | 2.4 |
| 8WU8 | X-RAY DIFFRACTION | 2.81 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BSD3-F1 | 65.66 | 0.07 |
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): 51
Mutagenesis-validated functional residues (8):
| Position | Phenotype |
|---|---|
| 51–52 | in rhino-plk1s/t(7a) mutant; abolished phosphorylation leading to decreased interaction with polq; when associated with |
| 51 | abolished phosphorylation by plk1, leading to decreased interaction with polq. |
| 55–61 | inhibits binding to the 9-1-1 complex. does not inhibit interaction with topbp1. inhibits localizion to sites of dna dam |
| 125–132 | abolished degradation following mitosis; when associated with 174-missing-178. |
| 141 | in rhino-plk1s/t(7a) mutant; abolished phosphorylation leading to decreased interaction with polq; when associated with |
| 162–164 | in rhino-plk1s/t(7a) mutant; abolished phosphorylation leading to decreased interaction with polq; when associated with |
| 174–178 | abolished degradation following mitosis; when associated with 125-missing-132. |
| 178 | in rhino-plk1s/t(7a) mutant; abolished phosphorylation leading to decreased interaction with polq; when associated with |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-5685938 | HDR through Single Strand Annealing (SSA) |
| R-HSA-5693607 | Processing of DNA double-strand break ends |
| R-HSA-5693616 | Presynaptic phase of homologous DNA pairing and strand exchange |
| R-HSA-6804756 | Regulation of TP53 Activity through Phosphorylation |
| R-HSA-69473 | G2/M DNA damage checkpoint |
| R-HSA-9709570 | Impaired BRCA2 binding to RAD51 |
MSigDB gene sets: 124 (showing top):
GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_CELLULAR_RESPONSE_TO_UV, REACTOME_G2_M_DNA_DAMAGE_CHECKPOINT, GOBP_CELLULAR_RESPONSE_TO_LIGHT_STIMULUS, GOBP_CELL_CYCLE_PHASE_TRANSITION, PATIL_LIVER_CANCER, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_NEGATIVE_REGULATION_OF_CELL_CYCLE, GOBP_PROTEIN_LOCALIZATION_TO_CHROMOSOME, GOBP_REGULATION_OF_CELL_CYCLE, GOBP_POSITIVE_REGULATION_OF_CELL_CYCLE_PROCESS, GOBP_RESPONSE_TO_UV, GOBP_DNA_DAMAGE_RESPONSE, GOBP_RESPONSE_TO_RADIATION
GO Biological Process (10): DNA damage checkpoint signaling (GO:0000077), recombinational repair (GO:0000725), cellular response to UV (GO:0034644), positive regulation of G0 to G1 transition (GO:0070318), cellular response to ionizing radiation (GO:0071479), double-strand break repair via alternative nonhomologous end joining (GO:0097681), protein localization to site of double-strand break (GO:1990166), DNA repair (GO:0006281), chromatin organization (GO:0006325), DNA damage response (GO:0006974)
GO Molecular Function (2): chromatin-protein adaptor activity (GO:0140463), protein binding (GO:0005515)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), site of double-strand break (GO:0035861)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA) | 2 |
| Homologous DNA Pairing and Strand Exchange | 1 |
| Regulation of TP53 Activity | 1 |
| G2/M Checkpoints | 1 |
| Defective homologous recombination repair (HRR) due to BRCA2 loss of function | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| DNA integrity checkpoint signaling | 1 |
| signal transduction in response to DNA damage | 1 |
| DNA repair | 1 |
| DNA recombination | 1 |
| response to UV | 1 |
| cellular response to light stimulus | 1 |
| G0 to G1 transition | 1 |
| regulation of G0 to G1 transition | 1 |
| positive regulation of cell cycle process | 1 |
| response to ionizing radiation | 1 |
| cellular response to radiation | 1 |
| double-strand break repair via nonhomologous end joining | 1 |
| protein localization to chromosome | 1 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular component organization | 1 |
| cellular response to stress | 1 |
| chromatin binding | 1 |
| chromatin organization | 1 |
| protein-macromolecule adaptor activity | 1 |
| binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| site of DNA damage | 1 |
Protein interactions and networks
STRING
762 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RHNO1 | TOPBP1 | Q92547 | 712 |
| RHNO1 | HUS1 | O60921 | 528 |
| RHNO1 | ATOSB | Q7L5A3 | 506 |
| RHNO1 | TEX52 | A6NCN8 | 479 |
| RHNO1 | C22orf39 | Q6P5X5 | 466 |
| RHNO1 | RAD9A | Q99638 | 463 |
| RHNO1 | TTLL5 | Q6EMB2 | 462 |
| RHNO1 | PWP1 | Q13610 | 461 |
| RHNO1 | DCAF11 | Q8TEB1 | 456 |
| RHNO1 | CRYL1 | Q9Y2S2 | 448 |
| RHNO1 | ACSL5 | Q9ULC5 | 443 |
| RHNO1 | COG1 | Q8WTW3 | 438 |
| RHNO1 | ATP8A2 | Q9NTI2 | 437 |
| RHNO1 | COLEC12 | Q5KU26 | 434 |
| RHNO1 | AP4M1 | O00189 | 433 |
IntAct
37 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TFIP11 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.760 |
| RHNO1 | TFIP11 | psi-mi:“MI:0915”(physical association) | 0.760 |
| RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| RHNO1 | KRTAP10-9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHNO1 | GOLGA2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LZTS2 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| KRTAP10-9 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GOLGA2 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BANP | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | RHNO1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHNO1 | BACE2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHNO1 | LRRK2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RHNO1 | CCNDBP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| RHNO1 | RAD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TP53BP1 | PSMD14 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BRCA1 | SMCHD1 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (44): RHNO1 (Two-hybrid), RHNO1 (Two-hybrid), LZTS2 (Two-hybrid), KRTAP10-9 (Two-hybrid), KRTAP10-3 (Two-hybrid), TOPBP1 (Affinity Capture-Western), RAD9A (Affinity Capture-Western), RAD18 (Affinity Capture-Western), UBE2N (Affinity Capture-Western), HUS1 (Affinity Capture-MS), RAD1 (Affinity Capture-MS), UBE2N (Affinity Capture-MS), RAD18 (Affinity Capture-MS), TOPBP1 (Affinity Capture-MS), RAD9A (Affinity Capture-MS)
ESM2 similar proteins: A0A087WXM9, A0A2K1JJ00, A0JM83, A4IGL8, E1BC15, E9Q5F9, O14513, O35923, O60673, O88491, P46013, P97929, Q14B71, Q28DZ0, Q29RT4, Q3MHH3, Q3TNU4, Q3ZBP0, Q4QY64, Q4V7J0, Q5DTT3, Q5E9A0, Q5F2C3, Q5RD08, Q5VWN6, Q5VYV7, Q61493, Q69YH5, Q6NS59, Q703I1, Q80U59, Q86XD8, Q8IXS0, Q8IYL3, Q8L7I1, Q8N7Z5, Q8NFU7, Q8TEP8, Q92628, Q96BU1
Diamond homologs: Q1LZE2, Q6AY26, Q8K3A4, Q9BSD3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
11 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 1 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
542 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:2877278:GGCTG:G | donor_gain | 1.0000 |
| 12:2877279:GCTGG:G | donor_gain | 1.0000 |
| 12:2877282:GGT:G | donor_loss | 1.0000 |
| 12:2877283:GTAAG:G | donor_loss | 1.0000 |
| 12:2877284:T:A | donor_loss | 1.0000 |
| 12:2877279:GCTG:G | donor_gain | 0.9900 |
| 12:2877283:G:GG | donor_gain | 0.9900 |
| 12:2876915:CTCA:C | donor_loss | 0.9800 |
| 12:2876916:TCA:T | donor_loss | 0.9800 |
| 12:2876917:CACCT:C | donor_loss | 0.9800 |
| 12:2876918:A:C | donor_loss | 0.9800 |
| 12:2877313:G:GT | donor_gain | 0.9800 |
| 12:2877313:G:T | donor_gain | 0.9800 |
| 12:2876914:GCTCA:G | donor_loss | 0.9700 |
| 12:2887909:A:G | acceptor_gain | 0.9700 |
| 12:2876790:C:A | donor_gain | 0.9600 |
| 12:2876839:C:CA | donor_gain | 0.9600 |
| 12:2876847:T:TA | donor_gain | 0.9600 |
| 12:2876921:T:TA | donor_gain | 0.9600 |
| 12:2887043:A:G | donor_gain | 0.9600 |
| 12:2887032:G:GT | donor_gain | 0.9500 |
| 12:2887047:A:AG | donor_gain | 0.9400 |
| 12:2887906:TTAA:T | acceptor_loss | 0.9400 |
| 12:2887907:TAA:T | acceptor_loss | 0.9400 |
| 12:2887908:AAGGT:A | acceptor_loss | 0.9400 |
| 12:2876789:T:TA | donor_gain | 0.9300 |
| 12:2877316:G:GT | donor_gain | 0.9300 |
| 12:2877280:CTG:C | donor_gain | 0.9200 |
| 12:2876769:TGC:T | donor_gain | 0.9100 |
| 12:2876918:A:AC | donor_gain | 0.9100 |
AlphaMissense
1542 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:2888379:T:A | W213R | 0.993 |
| 12:2888379:T:C | W213R | 0.993 |
| 12:2888381:G:C | W213C | 0.987 |
| 12:2888381:G:T | W213C | 0.987 |
| 12:2888384:G:C | R214S | 0.975 |
| 12:2888384:G:T | R214S | 0.975 |
| 12:2885418:T:C | F18L | 0.970 |
| 12:2885420:C:A | F18L | 0.970 |
| 12:2885420:C:G | F18L | 0.970 |
| 12:2885532:T:A | W56R | 0.964 |
| 12:2885532:T:C | W56R | 0.964 |
| 12:2888389:G:C | R216P | 0.963 |
| 12:2888380:G:C | W213S | 0.961 |
| 12:2888410:T:C | L223P | 0.960 |
| 12:2887923:T:C | F61L | 0.954 |
| 12:2887925:T:A | F61L | 0.954 |
| 12:2887925:T:G | F61L | 0.954 |
| 12:2885534:G:C | W56C | 0.949 |
| 12:2885534:G:T | W56C | 0.949 |
| 12:2888383:G:C | R214T | 0.949 |
| 12:2888028:T:C | F96L | 0.948 |
| 12:2888030:T:A | F96L | 0.948 |
| 12:2888030:T:G | F96L | 0.948 |
| 12:2888362:A:C | Y207S | 0.945 |
| 12:2888361:T:C | Y207H | 0.944 |
| 12:2888013:T:C | F91L | 0.943 |
| 12:2888015:T:A | F91L | 0.943 |
| 12:2888015:T:G | F91L | 0.943 |
| 12:2888343:G:C | D201H | 0.933 |
| 12:2888428:T:C | L229P | 0.933 |
dbSNP variants (sampled 300 via entrez): RS1000153119 (12:2882759 T>C), RS1000266917 (12:2877271 C>A,T), RS1000319560 (12:2877170 G>C,T), RS1000484363 (12:2883084 A>C), RS1000851602 (12:2884867 A>C), RS1001153368 (12:2878167 G>A,T), RS1001252557 (12:2877466 C>G), RS1001365770 (12:2884088 T>A), RS1001468904 (12:2888557 T>C), RS1001562886 (12:2881398 C>T), RS1001584578 (12:2882627 C>T), RS1001658277 (12:2882367 A>G,T), RS1001714323 (12:2876503 G>A), RS1002205126 (12:2878806 T>C), RS1002228588 (12:2876814 G>A)
Disease associations
OMIM: gene MIM:614085 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90002390_45 | Mean corpuscular hemoglobin | 5.000000e-13 |
| GCST90002392_366 | Mean corpuscular volume | 1.000000e-15 |
| GCST90002396_512 | Mean reticulocyte volume | 1.000000e-11 |
| GCST90002397_410 | Mean spheric corpuscular volume | 1.000000e-17 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0010701 | mean reticulocyte volume |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression, affects expression | 4 |
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Particulate Matter | decreases expression, decreases reaction, increases abundance | 2 |
| methylmercuric chloride | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | decreases expression, decreases reaction | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| jinfukang | increases expression, affects cotreatment | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| Resveratrol | increases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Vehicle Emissions | decreases expression, decreases reaction | 1 |
| Azathioprine | decreases expression | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, 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.