RRP12
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Summary
RRP12 (ribosomal RNA processing 12 homolog, HGNC:29100) is a protein-coding gene on chromosome 10q24.1, encoding RRP12-like protein (Q5JTH9). It is a common-essential gene (DepMap: required in 99.8% of cancer cell lines).
Enables RNA binding activity. Located in cytosol; nucleolus; and plasma membrane.
Source: NCBI Gene 23223 — RefSeq curated summary.
At a glance
- GWAS associations: 8
- Clinical variants (ClinVar): 262 total — 2 pathogenic
- Phenotypes (HPO): 41
- Druggable target: yes
- Cancer dependency (DepMap): dependent in 99.8% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015179
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29100 |
| Approved symbol | RRP12 |
| Name | ribosomal RNA processing 12 homolog |
| Location | 10q24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000052749 |
| Ensembl biotype | protein_coding |
| OMIM | 617723 |
| Entrez | 23223 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 8 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron
ENST00000315563, ENST00000370992, ENST00000414986, ENST00000439965, ENST00000465394, ENST00000479317, ENST00000479481, ENST00000487612, ENST00000490815, ENST00000491313, ENST00000536831, ENST00000618765, ENST00000619048, ENST00000621606, ENST00000622320
RefSeq mRNA: 3 — MANE Select: NM_015179
NM_001145114, NM_001284337, NM_015179
CCDS: CCDS44467, CCDS60605, CCDS7457
Canonical transcript exons
ENST00000370992 — 34 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000502777 | 97396218 | 97396301 |
| ENSE00000718386 | 97379628 | 97379770 |
| ENSE00000718392 | 97380799 | 97380913 |
| ENSE00000718399 | 97381386 | 97381483 |
| ENSE00000718413 | 97385895 | 97385993 |
| ENSE00000718421 | 97388252 | 97388379 |
| ENSE00000718428 | 97388489 | 97388624 |
| ENSE00000718462 | 97400305 | 97400534 |
| ENSE00000811181 | 97385166 | 97385257 |
| ENSE00000811182 | 97381715 | 97381826 |
| ENSE00000987268 | 97372073 | 97372166 |
| ENSE00001097582 | 97390423 | 97390539 |
| ENSE00001097587 | 97390739 | 97390844 |
| ENSE00001254203 | 97370923 | 97371081 |
| ENSE00003468562 | 97360546 | 97360618 |
| ENSE00003479600 | 97366446 | 97366621 |
| ENSE00003524850 | 97366108 | 97366233 |
| ENSE00003529521 | 97370455 | 97370560 |
| ENSE00003538169 | 97370716 | 97370796 |
| ENSE00003545233 | 97373575 | 97373737 |
| ENSE00003582102 | 97366742 | 97366909 |
| ENSE00003587420 | 97363854 | 97363903 |
| ENSE00003589133 | 97369425 | 97369582 |
| ENSE00003590106 | 97358943 | 97359010 |
| ENSE00003591733 | 97367041 | 97367132 |
| ENSE00003597661 | 97372736 | 97372803 |
| ENSE00003620910 | 97373046 | 97373200 |
| ENSE00003622169 | 97379293 | 97379414 |
| ENSE00003635083 | 97358537 | 97358619 |
| ENSE00003640384 | 97370167 | 97370274 |
| ENSE00003668054 | 97373830 | 97373894 |
| ENSE00003785810 | 97393684 | 97393760 |
| ENSE00003897323 | 97401093 | 97401340 |
| ENSE00004282214 | 97356701 | 97357196 |
Expression profiles
Bgee: expression breadth ubiquitous, 227 present calls, max score 92.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.9470 / max 486.9809, expressed in 1807 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 110933 | 15.2878 | 1778 |
| 110932 | 6.4582 | 1380 |
| 110931 | 1.4497 | 257 |
| 110934 | 0.5950 | 351 |
| 110927 | 0.1489 | 58 |
| 110928 | 0.0074 | 3 |
Top tissues by expression
281 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| gastrocnemius | UBERON:0001388 | 92.15 | gold quality |
| monocyte | CL:0000576 | 91.63 | gold quality |
| mononuclear cell | CL:0000842 | 91.53 | gold quality |
| leukocyte | CL:0000738 | 91.14 | gold quality |
| muscle of leg | UBERON:0001383 | 91.14 | gold quality |
| bone marrow cell | CL:0002092 | 90.18 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.60 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.19 | gold quality |
| granulocyte | CL:0000094 | 89.18 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.86 | gold quality |
| blood | UBERON:0000178 | 88.64 | gold quality |
| pituitary gland | UBERON:0000007 | 88.46 | gold quality |
| body of pancreas | UBERON:0001150 | 88.28 | gold quality |
| muscle organ | UBERON:0001630 | 88.19 | gold quality |
| apex of heart | UBERON:0002098 | 87.00 | gold quality |
| left testis | UBERON:0004533 | 86.71 | gold quality |
| right testis | UBERON:0004534 | 86.71 | gold quality |
| skin of leg | UBERON:0001511 | 86.12 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.89 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.79 | gold quality |
| pancreas | UBERON:0001264 | 85.61 | gold quality |
| testis | UBERON:0000473 | 85.60 | gold quality |
| heart left ventricle | UBERON:0002084 | 85.57 | gold quality |
| right atrium auricular region | UBERON:0006631 | 85.50 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 85.34 | gold quality |
| right uterine tube | UBERON:0001302 | 85.27 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 85.18 | gold quality |
| right frontal lobe | UBERON:0002810 | 85.13 | gold quality |
| left adrenal gland | UBERON:0001234 | 85.00 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 84.94 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.45 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
16 targeting RRP12, 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-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-1255A | 99.74 | 68.09 | 744 |
| HSA-MIR-1255B-5P | 99.74 | 68.16 | 741 |
| HSA-MIR-593-3P | 99.22 | 67.28 | 1327 |
| HSA-MIR-6848-5P | 98.81 | 65.49 | 1126 |
| HSA-MIR-6784-3P | 98.39 | 64.88 | 662 |
| HSA-MIR-3187-5P | 98.36 | 65.74 | 1776 |
| HSA-MIR-6862-3P | 97.92 | 64.86 | 531 |
| HSA-MIR-1285-3P | 97.72 | 67.02 | 1932 |
| HSA-MIR-5189-5P | 97.72 | 66.96 | 1814 |
| HSA-MIR-4456 | 97.50 | 64.88 | 1678 |
| HSA-MIR-612 | 97.26 | 65.95 | 1597 |
| HSA-MIR-6860 | 97.21 | 66.31 | 1656 |
| HSA-MIR-4701-5P | 96.45 | 68.41 | 1121 |
| HSA-MIR-588 | 96.45 | 68.36 | 1127 |
| HSA-MIR-4683 | 95.29 | 65.98 | 631 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.8% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- This study demonstrated that RRP12 was crucial for cell survival during cytotoxic stress via the repression of p53 stability. Thus, targeting RRP12 may enhance chemotherapeutic effect in cancers (PMID:26499779)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rrp12 | ENSDARG00000022410 |
| mus_musculus | Rrp12 | ENSMUSG00000035049 |
| rattus_norvegicus | Rrp12 | ENSRNOG00000048495 |
| drosophila_melanogaster | CG2691 | FBGN0030504 |
| caenorhabditis_elegans | WBGENE00021595 |
Protein
Protein identifiers
RRP12-like protein — Q5JTH9 (reviewed: Q5JTH9)
All UniProt accessions (5): A0A087WYW2, A0A087X0G0, A0A087X1U8, Q5JTH9, H7C1M8
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Nucleus. Nucleolus. Nucleus membrane.
Tissue specificity. Weakly expressed. Expressed at intermediate level in testis and ovary.
Similarity. Belongs to the RRP12 family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5JTH9-1 | 1 | yes |
| Q5JTH9-2 | 2 | |
| Q5JTH9-3 | 3 |
RefSeq proteins (3): NP_001138586, NP_001271266, NP_055994* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR011989 | ARM-like | Homologous_superfamily |
| IPR012978 | HEAT_RRP12 | Domain |
| IPR016024 | ARM-type_fold | Homologous_superfamily |
| IPR052087 | RRP12 | Family |
| IPR057860 | HEAT_RRP12_N | Domain |
Pfam: PF08161, PF25772
UniProt features (122 total): helix 66, strand 14, turn 12, modified residue 9, compositionally biased region 8, region of interest 3, sequence conflict 3, splice variant 2, sequence variant 2, chain 1, transmembrane region 1, cross-link 1
Structure
Experimental structures (PDB)
8 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7WTU | ELECTRON MICROSCOPY | 3 |
| 7WTZ | ELECTRON MICROSCOPY | 3 |
| 7WTT | ELECTRON MICROSCOPY | 3.1 |
| 7WTX | ELECTRON MICROSCOPY | 3.1 |
| 7WTS | ELECTRON MICROSCOPY | 3.2 |
| 7WTW | ELECTRON MICROSCOPY | 3.2 |
| 7WU0 | ELECTRON MICROSCOPY | 3.3 |
| 7WTV | ELECTRON MICROSCOPY | 3.5 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5JTH9-F1 | 78.62 | 0.48 |
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 (10): 49, 66, 72, 77, 88, 97, 1049, 1072, 1080, 71
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 146 (showing top):
GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, BROWNE_HCMV_INFECTION_16HR_UP, MONNIER_POSTRADIATION_TUMOR_ESCAPE_UP, LIAO_METASTASIS, WANG_RESPONSE_TO_FORSKOLIN_UP, APPIERTO_RESPONSE_TO_FENRETINIDE_UP, ACEVEDO_LIVER_CANCER_UP, WANG_RESPONSE_TO_ANDROGEN_UP, BERENJENO_TRANSFORMED_BY_RHOA_UP, GOCC_NUCLEAR_ENVELOPE, MARSON_BOUND_BY_FOXP3_STIMULATED, GOCC_NUCLEOLUS, GOCC_NUCLEAR_MEMBRANE, ELVIDGE_HIF1A_TARGETS_UP, CROONQUIST_IL6_DEPRIVATION_DN
GO Biological Process (0):
GO Molecular Function (1): RNA binding (GO:0003723)
GO Cellular Component (6): nucleolus (GO:0005730), cytosol (GO:0005829), plasma membrane (GO:0005886), nuclear membrane (GO:0031965), nucleus (GO:0005634), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| nucleic acid binding | 1 |
| nuclear lumen | 1 |
| intracellular membraneless organelle | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| nucleus | 1 |
| nuclear envelope | 1 |
| organelle membrane | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
2298 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RRP12 | BYSL | Q13895 | 872 |
| RRP12 | RIOK2 | Q9BVS4 | 842 |
| RRP12 | PNO1 | Q9NRX1 | 822 |
| RRP12 | LTV1 | Q96GA3 | 795 |
| RRP12 | UTP20 | O75691 | 781 |
| RRP12 | NOP14 | P78316 | 766 |
| RRP12 | TSR1 | Q2NL82 | 744 |
| RRP12 | NMD3 | Q96D46 | 744 |
| RRP12 | PDCD11 | Q14690 | 736 |
| RRP12 | RCL1 | Q9Y2P8 | 730 |
| RRP12 | NAT10 | Q9H0A0 | 724 |
| RRP12 | BMS1 | Q14692 | 722 |
| RRP12 | NOB1 | Q9ULX3 | 675 |
| RRP12 | GNL2 | Q13823 | 666 |
| RRP12 | LSG1 | Q9H089 | 648 |
IntAct
250 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBL | NOP56 | psi-mi:“MI:0914”(association) | 0.800 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| H1-1 | RRP8 | psi-mi:“MI:0914”(association) | 0.640 |
| BYSL | PARN | psi-mi:“MI:0914”(association) | 0.640 |
| TSR1 | RPS3 | psi-mi:“MI:0914”(association) | 0.640 |
| AURKB | SEC16A | psi-mi:“MI:2364”(proximity) | 0.570 |
| CANX | PGRMC1 | psi-mi:“MI:0914”(association) | 0.570 |
| RPS6 | IPO7 | psi-mi:“MI:0914”(association) | 0.530 |
| FGF3 | GTPBP10 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNF324B | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| H1-6 | ZNF724 | psi-mi:“MI:0914”(association) | 0.530 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| H1-4 | IGF2BP3 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS2 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.530 |
| PRR11 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| SCN3B | ABCC5 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL7 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.530 |
| PDGFB | DKC1 | psi-mi:“MI:0914”(association) | 0.530 |
| TSR1 | PARN | psi-mi:“MI:0914”(association) | 0.530 |
| WDR5B | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPS3 | ZNF316 | psi-mi:“MI:0914”(association) | 0.530 |
| PBXIP1 | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| H2BC26 | PPM1G | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (402): RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), RRP12 (Affinity Capture-MS), BRIX1 (Co-fractionation), DDX24 (Co-fractionation)
ESM2 similar proteins: A0JMW2, A2VE70, A5WW24, A7E2Y6, B9EJR8, E0CZ22, E1BP36, E7FBU4, O35638, O43156, O70576, O75155, Q08AM6, Q0P5A6, Q0V9L1, Q16401, Q5IFJ8, Q5JTH9, Q5R6L5, Q5ZIW5, Q5ZKD5, Q66L58, Q68F38, Q6DCF2, Q6P5B0, Q6ZQ73, Q7TMY7, Q80W92, Q80WQ2, Q84ZC0, Q86Y56, Q8C0Y0, Q8K2V6, Q8NDA8, Q8WVM7, Q91V83, Q96T76, Q99M76, Q9BPX3, Q9D071
Diamond homologs: Q5JTH9, Q5ZKD5, Q6P5B0
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 217 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 |
|---|---|---|---|
| Eukaryotic Translation Initiation | 12 | 25.5× | 6e-13 |
| Cap-dependent Translation Initiation | 12 | 25.5× | 6e-13 |
| SARS-CoV-1 modulates host translation machinery | 12 | 25.5× | 6e-13 |
| Eukaryotic Translation Elongation | 12 | 23.1× | 2e-12 |
| Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S | 12 | 22.5× | 3e-12 |
| Influenza Viral RNA Transcription and Replication | 13 | 19.3× | 2e-12 |
| Nonsense-Mediated Decay (NMD) | 12 | 19.3× | 2e-11 |
| SARS-CoV-2 modulates host translation machinery | 12 | 18.5× | 3e-11 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of DNA recombination | 6 | 35.7× | 2e-06 |
| chromosome condensation | 7 | 31.2× | 3e-07 |
| cytoplasmic translation | 22 | 21.6× | 2e-20 |
| maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) | 6 | 21.4× | 4e-05 |
| ribosomal small subunit biogenesis | 15 | 18.1× | 1e-12 |
| translation | 22 | 12.0× | 6e-15 |
| ribosomal large subunit biogenesis | 5 | 11.7× | 7e-03 |
| rRNA processing | 15 | 11.2× | 1e-09 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
262 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 213 |
| Likely benign | 14 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4538524 | NM_015179.4(RRP12):c.1429G>A (p.Glu477Lys) | Pathogenic |
| 4538525 | NM_015179.4(RRP12):c.2634T>G (p.Phe878Leu) | Pathogenic |
SpliceAI
5183 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:97357194:TTCC:T | acceptor_loss | 1.0000 |
| 10:97358535:ACCT:A | donor_loss | 1.0000 |
| 10:97358536:CCTG:C | donor_gain | 1.0000 |
| 10:97358616:CTTT:C | acceptor_gain | 1.0000 |
| 10:97358617:TTT:T | acceptor_gain | 1.0000 |
| 10:97358618:TT:T | acceptor_gain | 1.0000 |
| 10:97358618:TTCTG:T | acceptor_loss | 1.0000 |
| 10:97358619:TCT:T | acceptor_loss | 1.0000 |
| 10:97358620:C:CC | acceptor_gain | 1.0000 |
| 10:97358620:C:CG | acceptor_loss | 1.0000 |
| 10:97358621:T:A | acceptor_loss | 1.0000 |
| 10:97358624:T:C | acceptor_gain | 1.0000 |
| 10:97358624:T:TC | acceptor_gain | 1.0000 |
| 10:97358629:C:CT | acceptor_gain | 1.0000 |
| 10:97358629:C:T | acceptor_gain | 1.0000 |
| 10:97358630:A:T | acceptor_gain | 1.0000 |
| 10:97358938:CTTA:C | donor_loss | 1.0000 |
| 10:97358940:TA:T | donor_loss | 1.0000 |
| 10:97358941:A:AC | donor_gain | 1.0000 |
| 10:97358941:AC:A | donor_gain | 1.0000 |
| 10:97358942:C:CC | donor_gain | 1.0000 |
| 10:97358942:C:CG | donor_loss | 1.0000 |
| 10:97358942:CC:C | donor_gain | 1.0000 |
| 10:97359006:TCCAG:T | acceptor_gain | 1.0000 |
| 10:97359007:CCAG:C | acceptor_gain | 1.0000 |
| 10:97359007:CCAGC:C | acceptor_gain | 1.0000 |
| 10:97359008:CAG:C | acceptor_gain | 1.0000 |
| 10:97359008:CAGC:C | acceptor_gain | 1.0000 |
| 10:97359009:AG:A | acceptor_gain | 1.0000 |
| 10:97359009:AGCTA:A | acceptor_loss | 1.0000 |
AlphaMissense
8441 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:97396283:C:G | A130P | 0.999 |
| 10:97396288:A:G | L128P | 0.999 |
| 10:97371047:C:G | R793P | 0.998 |
| 10:97388611:G:T | A256D | 0.998 |
| 10:97388620:C:G | R253P | 0.998 |
| 10:97390491:A:G | W229R | 0.998 |
| 10:97390491:A:T | W229R | 0.998 |
| 10:97393705:A:G | L170P | 0.998 |
| 10:97396219:A:G | L151P | 0.998 |
| 10:97396232:A:G | Y147H | 0.998 |
| 10:97396282:G:T | A130D | 0.998 |
| 10:97396291:A:T | V127D | 0.998 |
| 10:97366478:A:G | F1120S | 0.997 |
| 10:97379389:A:G | W568R | 0.997 |
| 10:97379389:A:T | W568R | 0.997 |
| 10:97385206:A:G | W390R | 0.997 |
| 10:97385206:A:T | W390R | 0.997 |
| 10:97388612:C:G | A256P | 0.997 |
| 10:97390842:A:T | V178D | 0.997 |
| 10:97393702:A:G | L171P | 0.997 |
| 10:97393717:G:T | A166D | 0.997 |
| 10:97396232:A:C | Y147D | 0.997 |
| 10:97396279:A:T | V131D | 0.997 |
| 10:97396286:C:G | A129P | 0.997 |
| 10:97396294:G:T | A126D | 0.997 |
| 10:97396295:C:G | A126P | 0.997 |
| 10:97400354:A:G | F107S | 0.997 |
| 10:97370784:A:G | C839R | 0.996 |
| 10:97385253:A:G | L374P | 0.996 |
| 10:97390530:A:G | C216R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000066791 (10:97399081 C>T), RS1000107939 (10:97381032 C>A,T), RS1000115977 (10:97397883 C>G,T), RS1000269205 (10:97375029 T>G), RS1000323402 (10:97362707 G>A,C), RS1000327604 (10:97369260 G>A), RS1000339375 (10:97356508 C>T), RS1000348273 (10:97386959 C>T), RS1000413060 (10:97395460 G>A), RS1000669212 (10:97397205 G>C), RS1000705919 (10:97368181 C>A,T), RS1000723968 (10:97375359 C>A,T), RS1000747209 (10:97358486 C>T), RS1000790761 (10:97395205 T>C), RS1000815618 (10:97390906 C>A,T)
Disease associations
OMIM: gene MIM:617723 | disease phenotypes: MIM:621452
GenCC curated gene-disease
Mondo (1): basal ganglia calcification, idiopathic, 11, autosomal recessive (MONDO:0980939)
Orphanet (0):
HPO phenotypes
41 total (30 of 41 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000252 | Microcephaly |
| HP:0000360 | Tinnitus |
| HP:0000518 | Cataract |
| HP:0000712 | Emotional lability |
| HP:0000739 | Anxiety |
| HP:0001251 | Ataxia |
| HP:0001257 | Spasticity |
| HP:0001260 | Dysarthria |
| HP:0001268 | Mental deterioration |
| HP:0001300 | Parkinsonism |
| HP:0001332 | Dystonia |
| HP:0001873 | Thrombocytopenia |
| HP:0002063 | Rigidity |
| HP:0002067 | Bradykinesia |
| HP:0002072 | Chorea |
| HP:0002135 | Basal ganglia calcification |
| HP:0002197 | Generalized-onset seizure |
| HP:0002273 | Tetraparesis |
| HP:0002283 | Global brain atrophy |
| HP:0002311 | Incoordination |
| HP:0002315 | Headache |
| HP:0002321 | Vertigo |
| HP:0002352 | Leukoencephalopathy |
| HP:0002354 | Memory impairment |
| HP:0002425 | Anarthria |
| HP:0002505 | Loss of ambulation |
| HP:0002514 | Cerebral calcification |
| HP:0003584 | Late onset |
| HP:0003596 | Middle age onset |
GWAS associations
8 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004608_163 | Granulocyte percentage of myeloid white cells | 3.000000e-10 |
| GCST004609_17 | Monocyte percentage of white cells | 4.000000e-16 |
| GCST004625_182 | Monocyte count | 1.000000e-27 |
| GCST004904_162 | Body mass index | 7.000000e-09 |
| GCST90002393_338 | Monocyte count | 3.000000e-50 |
| GCST90002394_453 | Monocyte percentage of white cells | 6.000000e-33 |
| GCST90002398_183 | Neutrophil count | 5.000000e-12 |
| GCST90002407_311 | White blood cell count | 3.000000e-14 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0005091 | monocyte count |
| EFO:0004340 | body mass index |
| EFO:0004833 | neutrophil count |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL6067385 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 9.59 | Kd | 0.256 | nM | CHEMBL5653589 |
| 9.59 | ED50 | 0.256 | nM | CHEMBL5653589 |
PubChem BioAssay actives
1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| 4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide | 2149322: Binding affinity to human RRP12 incubated for 45 mins by Kinobead based pull down assay | kd | 0.0003 | uM |
CTD chemical–gene interactions
69 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cisplatin | affects expression, decreases expression, increases expression | 3 |
| Cyclosporine | increases expression | 3 |
| Aflatoxin B1 | affects cotreatment, decreases expression, decreases methylation, increases expression | 3 |
| bisphenol A | decreases expression, affects expression, affects cotreatment | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Estradiol | increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases expression | 1 |
| 4-hydroxyphenyl 4-isopropoxyphenylsulfone | increases expression | 1 |
| dicrotophos | increases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| deoxynivalenol | increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| 2-amino-9H-pyrido(2,3-b)indole | increases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| hydroquinone | decreases expression | 1 |
| exemestane | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| azoxystrobin | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| K 7174 | increases expression | 1 |
| ICG 001 | decreases expression | 1 |
| abrine | increases expression | 1 |
| bisphenol S | increases expression | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5652364 | Binding | Binding affinity to human RRP12 incubated for 45 mins by Kinobead based pull down assay | NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): basal ganglia calcification, idiopathic, 11, autosomal recessive