RMND5A
gene geneOn this page
Also known as FLJ13910RMD5GID2GID2Ap44CTLH
Summary
RMND5A (required for meiotic nuclear division 5 homolog A, HGNC:25850) is a protein-coding gene on chromosome 2p11.2, encoding E3 ubiquitin-protein transferase RMND5A (Q9H871). Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. It is a selective cancer dependency (DepMap: 31.7% of cell lines).
Predicted to enable ubiquitin protein ligase activity and zinc ion binding activity. Predicted to contribute to ubiquitin-protein transferase activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process and protein polyubiquitination. Located in cytoplasm and nucleoplasm. Part of ubiquitin ligase complex.
Source: NCBI Gene 64795 — RefSeq curated summary.
At a glance
- GWAS associations: 14
- Clinical variants (ClinVar): 34 total
- Cancer dependency (DepMap): dependent in 31.7% of screened cell lines
- MANE Select transcript:
NM_022780
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25850 |
| Approved symbol | RMND5A |
| Name | required for meiotic nuclear division 5 homolog A |
| Location | 2p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13910, RMD5, GID2, GID2A, p44CTLH |
| Ensembl gene | ENSG00000153561 |
| Ensembl biotype | protein_coding |
| OMIM | 618964 |
| Entrez | 64795 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 3 protein_coding_CDS_not_defined
ENST00000283632, ENST00000466417, ENST00000471113, ENST00000472843, ENST00000882508, ENST00000932494
RefSeq mRNA: 1 — MANE Select: NM_022780
NM_022780
CCDS: CCDS1991
Canonical transcript exons
ENST00000283632 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001011438 | 86753458 | 86753558 |
| ENSE00001011440 | 86765027 | 86765193 |
| ENSE00001221631 | 86773348 | 86778041 |
| ENSE00001653794 | 86720291 | 86720809 |
| ENSE00002531730 | 86740927 | 86741069 |
| ENSE00003501155 | 86770023 | 86770125 |
| ENSE00003515844 | 86751896 | 86752030 |
| ENSE00003553243 | 86771558 | 86771712 |
| ENSE00003607935 | 86765859 | 86766024 |
Expression profiles
Bgee: expression breadth ubiquitous, 295 present calls, max score 99.38.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7331 / max 162.8225, expressed in 1729 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 21304 | 9.3549 | 1724 |
| 202268 | 0.3538 | 155 |
| 21306 | 0.0131 | 2 |
| 21307 | 0.0082 | 4 |
| 21305 | 0.0030 | 2 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.38 | gold quality |
| oocyte | CL:0000023 | 98.35 | gold quality |
| buccal mucosa cell | CL:0002336 | 97.78 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 96.88 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.33 | gold quality |
| amniotic fluid | UBERON:0000173 | 95.82 | gold quality |
| paraflocculus | UBERON:0005351 | 95.68 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 95.37 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 95.35 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 95.30 | gold quality |
| gluteal muscle | UBERON:0002000 | 95.29 | gold quality |
| biceps brachii | UBERON:0001507 | 95.12 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 95.01 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 94.96 | gold quality |
| deltoid | UBERON:0001476 | 94.69 | gold quality |
| tibialis anterior | UBERON:0001385 | 94.56 | gold quality |
| cerebellum | UBERON:0002037 | 94.33 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.99 | gold quality |
| quadriceps femoris | UBERON:0001377 | 93.92 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.91 | gold quality |
| vastus lateralis | UBERON:0001379 | 93.89 | gold quality |
| muscle tissue | UBERON:0002385 | 93.88 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.59 | gold quality |
| muscle organ | UBERON:0001630 | 93.53 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 93.53 | gold quality |
| triceps brachii | UBERON:0001509 | 93.37 | gold quality |
| muscle of leg | UBERON:0001383 | 93.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 93.14 | gold quality |
| heart right ventricle | UBERON:0002080 | 93.13 | gold quality |
| corpus callosum | UBERON:0002336 | 92.87 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.72 |
| E-MTAB-6058 | no | 506.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
313 targeting RMND5A, 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-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 31.7% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- RanBPM, ARMC8alpha, ARMC8beta, Muskelin, p48EMLP, and p44CTLH form complexes in cells. (PMID:17467196)
- Duplications of this region involving RMND5A, whose product contains a C-terminal to lis homology (LisH) domain, have not previously been associated with a defined phenotype but may present insight into encephalocele formation. (PMID:22681319)
- The study identifies a miR-138-RMND5A-Exportin-5 as a previously unknown miRNA processing regulatory pathway in HeLa cells. (PMID:24057215)
- GID2 Interacts With CDKN3 and Regulates Pancreatic Cancer Growth and Apoptosis. (PMID:36828188)
- Non-canonical substrate recognition by the human WDR26-CTLH E3 ligase regulates prodrug metabolism. (PMID:38759627)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rmnd5a | ENSMUSG00000002222 |
| rattus_norvegicus | Rmnd5a | ENSRNOG00000065409 |
| drosophila_melanogaster | Sou | FBGN0034573 |
| caenorhabditis_elegans | WBGENE00020301 |
Paralogs (2): MAEA (ENSG00000090316), RMND5B (ENSG00000145916)
Protein
Protein identifiers
E3 ubiquitin-protein transferase RMND5A — Q9H871 (reviewed: Q9H871)
Alternative names: P44CTLH, Protein RMD5 homolog A
All UniProt accessions (1): Q9H871
UniProt curated annotations — full annotation on UniProt →
Function. Core component of the CTLH E3 ubiquitin-protein ligase complex that selectively accepts ubiquitin from UBE2H and mediates ubiquitination and subsequent proteasomal degradation of the transcription factor HBP1. MAEA and RMND5A are both required for catalytic activity of the CTLH E3 ubiquitin-protein ligase complex. Catalytic activity of the complex is required for normal cell proliferation. The CTLH E3 ubiquitin-protein ligase complex is not required for the degradation of enzymes involved in gluconeogenesis, such as FBP1.
Subunit / interactions. Identified in the CTLH complex that contains GID4, RANBP9 and/or RANBP10, MKLN1, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, ARMC8, WDR26 and YPEL5. Within this complex, MAEA, RMND5A (or alternatively its paralog RMND5B), GID8, WDR26, and RANBP9 and/or RANBP10 form the catalytic core, while GID4, MKLN1, ARMC8 and YPEL5 have ancillary roles.
Subcellular location. Nucleus. Nucleoplasm. Cytoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H871-1 | 1 | yes |
| Q9H871-2 | 2 |
RefSeq proteins (1): NP_073617* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006594 | LisH | Conserved_site |
| IPR006595 | CTLH_C | Domain |
| IPR013144 | CRA_dom | Domain |
| IPR024964 | CTLH/CRA | Domain |
| IPR027370 | Znf-RING_euk | Domain |
| IPR037680 | RMD5A_dRING | Domain |
| IPR044063 | ZF_RING_GID | Domain |
| IPR045098 | Fyv10_fam | Family |
Pfam: PF10607, PF13445
UniProt features (26 total): helix 10, strand 6, domain 2, splice variant 2, sequence conflict 2, chain 1, turn 1, zinc finger region 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8PJN | ELECTRON MICROSCOPY | 3.4 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H871-F1 | 89.97 | 0.65 |
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): 1
Function
Pathways and Gene Ontology
Reactome pathways
4 pathways
| ID | Pathway |
|---|---|
| R-HSA-9861718 | Regulation of pyruvate metabolism |
| R-HSA-1428517 | Aerobic respiration and respiratory electron transport |
| R-HSA-1430728 | Metabolism |
| R-HSA-70268 | Pyruvate metabolism |
MSigDB gene sets: 290 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, TONKS_TARGETS_OF_RUNX1_RUNX1T1_FUSION_MONOCYTE_UP, FREAC2_01, GCM_ZNF198, MORF_RRM1, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, BROWNE_HCMV_INFECTION_16HR_UP, CACCAGC_MIR138, PUJANA_CHEK2_PCC_NETWORK, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_POLYUBIQUITINATION, TANAKA_METHYLATED_IN_ESOPHAGEAL_CARCINOMA, AACTTT_UNKNOWN, PETROVA_ENDOTHELIUM_LYMPHATIC_VS_BLOOD_UP
GO Biological Process (2): protein polyubiquitination (GO:0000209), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (6): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), protein binding (GO:0005515), transferase activity (GO:0016740), metal ion binding (GO:0046872)
GO Cellular Component (6): ubiquitin ligase complex (GO:0000151), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), cytosol (GO:0005829), GID complex (GO:0034657)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Pyruvate metabolism | 1 |
| Metabolism | 1 |
| Aerobic respiration and respiratory electron transport | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| protein ubiquitination | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| ubiquitin-like protein transferase activity | 1 |
| transition metal ion binding | 1 |
| ubiquitin-protein transferase activity | 1 |
| ubiquitin-like protein ligase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| intracellular protein-containing complex | 1 |
| transferase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
886 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RMND5A | GID8 | Q9NWU2 | 993 |
| RMND5A | RANBP9 | Q96S59 | 960 |
| RMND5A | ARMC8 | Q8IUR7 | 948 |
| RMND5A | WDR26 | Q9H7D7 | 947 |
| RMND5A | MKLN1 | Q9UL63 | 945 |
| RMND5A | GID4 | Q8IVV7 | 942 |
| RMND5A | PAFAH1B1 | P43034 | 764 |
| RMND5A | RANBP10 | Q6VN20 | 731 |
| RMND5A | YPEL5 | P62699 | 608 |
| RMND5A | UBE2H | P37286 | 607 |
| RMND5A | MAEA | Q7L5Y9 | 582 |
| RMND5A | SWSAP1 | Q6NVH7 | 556 |
| RMND5A | ZNHIT3 | Q15649 | 546 |
| RMND5A | ZMYND19 | Q96E35 | 509 |
| RMND5A | SCFD1 | Q8WVM8 | 464 |
IntAct
155 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RMND5A | GID8 | psi-mi:“MI:0915”(physical association) | 0.880 |
| ARMC8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.750 |
| GID8 | MAEA | psi-mi:“MI:0914”(association) | 0.730 |
| GID8 | PGRMC2 | psi-mi:“MI:0914”(association) | 0.640 |
| CCDC120 | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| CRIPTO | AIP | psi-mi:“MI:0914”(association) | 0.640 |
| NDUFS6 | NDUFS8 | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP10 | MAEA | psi-mi:“MI:0914”(association) | 0.640 |
| RANBP9 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| PRG2 | YPEL5 | psi-mi:“MI:0914”(association) | 0.640 |
| CAMKV | AP3B1 | psi-mi:“MI:0914”(association) | 0.640 |
| GID8 | HTRA2 | psi-mi:“MI:0914”(association) | 0.610 |
| RMND5A | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEOX2 | RMND5A | psi-mi:“MI:0915”(physical association) | 0.560 |
| RMND5A | NDUFV1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RMND5A | WFS1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN1 | RMND5A | psi-mi:“MI:0915”(physical association) | 0.560 |
| TARDBP | RMND5A | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (283): RMND5A (Two-hybrid), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RMND5A (Affinity Capture-MS), RANBP10 (Affinity Capture-MS), RANBP9 (Affinity Capture-MS), WDR26 (Affinity Capture-MS)
ESM2 similar proteins: A0MT11, A1Z3X3, A2VD00, A4GWN3, A4II09, A4QNE0, A4VCH4, B5KFI0, O35841, P48553, P49754, Q09161, Q0P5I8, Q15386, Q3TLI0, Q3UYV9, Q56A27, Q5E9L7, Q5KU39, Q5R644, Q5XI83, Q5ZJZ6, Q5ZKG8, Q5ZMW3, Q640V2, Q6GLK9, Q6GLP4, Q6N069, Q6NRL4, Q6TGY8, Q6WKZ8, Q7L5D6, Q7ZY79, Q80U95, Q80UM3, Q80YQ8, Q8BWQ6, Q8IWV8, Q8VZM1, Q91W86
Diamond homologs: O59668, Q640V2, Q6GLP4, Q80YQ8, Q9H871, Q9T075, Q91YQ7, Q96G75, Q11072
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | RMND5A | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 130 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 |
|---|---|---|---|
| Regulation of pyruvate metabolism | 8 | 53.1× | 3e-10 |
| Aerobic respiration and respiratory electron transport | 7 | 7.2× | 7e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 20 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1380 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:86740922:TATA:T | acceptor_loss | 1.0000 |
| 2:86740924:TA:T | acceptor_loss | 1.0000 |
| 2:86740925:A:AG | acceptor_gain | 1.0000 |
| 2:86740925:A:T | acceptor_loss | 1.0000 |
| 2:86740926:G:GA | acceptor_gain | 1.0000 |
| 2:86741067:AAGG:A | donor_loss | 1.0000 |
| 2:86741068:AGGT:A | donor_loss | 1.0000 |
| 2:86741070:G:GC | donor_loss | 1.0000 |
| 2:86741070:G:GG | donor_gain | 1.0000 |
| 2:86741071:T:A | donor_loss | 1.0000 |
| 2:86751891:CCCAG:C | acceptor_loss | 1.0000 |
| 2:86751894:A:AG | acceptor_gain | 1.0000 |
| 2:86751895:G:GG | acceptor_gain | 1.0000 |
| 2:86751895:GA:G | acceptor_gain | 1.0000 |
| 2:86751895:GAA:G | acceptor_gain | 1.0000 |
| 2:86751895:GAAT:G | acceptor_gain | 1.0000 |
| 2:86751895:GAATT:G | acceptor_gain | 1.0000 |
| 2:86752027:TCAG:T | donor_loss | 1.0000 |
| 2:86752028:CAG:C | donor_loss | 1.0000 |
| 2:86752031:GT:G | donor_loss | 1.0000 |
| 2:86752032:T:G | donor_loss | 1.0000 |
| 2:86753454:CCA:C | acceptor_loss | 1.0000 |
| 2:86753456:A:AG | acceptor_gain | 1.0000 |
| 2:86753457:G:GG | acceptor_gain | 1.0000 |
| 2:86753457:GGA:G | acceptor_gain | 1.0000 |
| 2:86753457:GGAAT:G | acceptor_gain | 1.0000 |
| 2:86753556:GGA:G | donor_gain | 1.0000 |
| 2:86753557:GA:G | donor_gain | 1.0000 |
| 2:86753557:GAG:G | donor_gain | 1.0000 |
| 2:86753559:G:GG | donor_gain | 1.0000 |
AlphaMissense
2589 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:86741023:A:T | K80I | 1.000 |
| 2:86741024:A:C | K80N | 1.000 |
| 2:86741024:A:T | K80N | 1.000 |
| 2:86741031:C:G | H83D | 1.000 |
| 2:86741041:T:A | V86D | 1.000 |
| 2:86741053:G:A | G90E | 1.000 |
| 2:86741055:A:G | K91E | 1.000 |
| 2:86741057:A:C | K91N | 1.000 |
| 2:86741057:A:T | K91N | 1.000 |
| 2:86753552:C:A | A172D | 1.000 |
| 2:86765028:T:A | W175R | 1.000 |
| 2:86765028:T:C | W175R | 1.000 |
| 2:86765030:G:C | W175C | 1.000 |
| 2:86765030:G:T | W175C | 1.000 |
| 2:86765031:G:C | A176P | 1.000 |
| 2:86765086:T:C | L194P | 1.000 |
| 2:86765095:T:C | L197P | 1.000 |
| 2:86765155:C:A | A217D | 1.000 |
| 2:86765967:T:C | F266S | 1.000 |
| 2:86765978:G:C | A270P | 1.000 |
| 2:86770033:G:C | G289R | 1.000 |
| 2:86770034:G:A | G289D | 1.000 |
| 2:86770121:T:C | L318S | 1.000 |
| 2:86771600:T:C | F334L | 1.000 |
| 2:86771601:T:C | F334S | 1.000 |
| 2:86771602:T:A | F334L | 1.000 |
| 2:86771602:T:G | F334L | 1.000 |
| 2:86771604:C:A | A335D | 1.000 |
| 2:86771606:T:A | C336S | 1.000 |
| 2:86771606:T:C | C336R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000106432 (2:86719805 G>A,C), RS1000193952 (2:86772484 CAAAAA>C,CA,CAAAA,CAAAAAA), RS1000222729 (2:86765430 A>G), RS1000290826 (2:86745864 A>T), RS1000294570 (2:86764844 T>C), RS1000434612 (2:86772097 G>A,C), RS1000524793 (2:86759280 T>A), RS1000689517 (2:86760170 G>C), RS1000779085 (2:86772317 T>C), RS1000866255 (2:86760420 G>T), RS1000946323 (2:86754708 G>A), RS1000975687 (2:86754446 A>T), RS1001001520 (2:86747482 A>G), RS1001087980 (2:86767381 G>A), RS1001131549 (2:86760403 G>A)
Disease associations
OMIM: gene MIM:618964 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
14 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004602_89 | Mean corpuscular volume | 9.000000e-15 |
| GCST004611_14 | High light scatter reticulocyte count | 9.000000e-15 |
| GCST004612_170 | High light scatter reticulocyte percentage of red cells | 5.000000e-15 |
| GCST004619_56 | Reticulocyte fraction of red cells | 3.000000e-12 |
| GCST004622_152 | Reticulocyte count | 3.000000e-11 |
| GCST004628_147 | Immature fraction of reticulocytes | 1.000000e-09 |
| GCST004630_29 | Mean corpuscular hemoglobin | 4.000000e-10 |
| GCST90002385_134 | High light scatter reticulocyte count | 6.000000e-28 |
| GCST90002386_250 | High light scatter reticulocyte percentage of red cells | 1.000000e-29 |
| GCST90002387_260 | Immature fraction of reticulocytes | 2.000000e-14 |
| GCST90002390_365 | Mean corpuscular hemoglobin | 2.000000e-21 |
| GCST90002392_207 | Mean corpuscular volume | 9.000000e-25 |
| GCST90002405_130 | Reticulocyte count | 2.000000e-25 |
| GCST90002406_23 | Reticulocyte fraction of red cells | 7.000000e-29 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0004527 | mean corpuscular hemoglobin |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
38 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tobacco Smoke Pollution | increases expression, increases methylation | 3 |
| Cadmium Chloride | increases abundance, increases expression | 2 |
| triphenyl phosphate | affects expression | 1 |
| terbufos | increases methylation | 1 |
| tetrahydropalmatine | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| pentanal | decreases expression | 1 |
| tamibarotene | decreases expression | 1 |
| K 7174 | increases expression | 1 |
| abrine | increases expression | 1 |
| jinfukang | decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Amphotericin B | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Fonofos | increases methylation | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Parathion | increases methylation | 1 |
| Plant Oils | increases expression | 1 |
| Silver | increases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Urethane | increases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2JF | HAP1 RMND5A (-) 1 | Cancer cell line | Male |
| CVCL_E2JG | HAP1 RMND5A (-) 2 | Cancer cell line | Male |
| CVCL_E2JH | HAP1 RMND5A (-) 3 | Cancer cell line | Male |
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.