RPP14
gene geneOn this page
Also known as P14
Summary
RPP14 (ribonuclease P/MRP subunit p14, HGNC:30327) is a protein-coding gene on chromosome 3p14.3, encoding Ribonuclease P protein subunit p14 (O95059). Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. It is a common-essential gene (DepMap: required in 96.9% of cancer cell lines).
This gene encodes a subunit of ribonuclease P and has 3’ to 5’ exoribonuclease activity. Transcripts for this gene are bicistronic and include a conserved downstream open reading frame for the hydroxyacyl-thioester dehydratase type 2 (HTD2) gene.
Source: NCBI Gene 11102 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 2 total
- Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
- MANE Select transcript:
NM_007042
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30327 |
| Approved symbol | RPP14 |
| Name | ribonuclease P/MRP subunit p14 |
| Location | 3p14.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P14 |
| Ensembl gene | ENSG00000163684 |
| Ensembl biotype | protein_coding |
| OMIM | 606112 |
| Entrez | 11102 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 3 protein_coding, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000295959, ENST00000445193, ENST00000461797, ENST00000462046, ENST00000463550, ENST00000466547
RefSeq mRNA: 2 — MANE Select: NM_007042
NM_001098783, NM_007042
CCDS: CCDS2888
Canonical transcript exons
ENST00000295959 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001874873 | 58306245 | 58306417 |
| ENSE00001911317 | 58317440 | 58320193 |
| ENSE00003532304 | 58310309 | 58310406 |
| ENSE00003550726 | 58316915 | 58316993 |
| ENSE00003597315 | 58316515 | 58316591 |
| ENSE00003692897 | 58310507 | 58310591 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 91.57.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.3257 / max 15.2469, expressed in 145 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 37039 | 8.0521 | 1774 |
| 37040 | 6.9940 | 1740 |
| 37041 | 0.3257 | 145 |
Top tissues by expression
248 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| hindlimb stylopod muscle | UBERON:0004252 | 91.57 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 89.60 | gold quality |
| muscle of leg | UBERON:0001383 | 88.80 | gold quality |
| gastrocnemius | UBERON:0001388 | 88.53 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 82.66 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.56 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 82.18 | gold quality |
| stromal cell of endometrium | CL:0002255 | 82.12 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.55 | gold quality |
| colonic epithelium | UBERON:0000397 | 81.51 | gold quality |
| ventricular zone | UBERON:0003053 | 81.51 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 81.11 | gold quality |
| adrenal tissue | UBERON:0018303 | 81.09 | gold quality |
| heart left ventricle | UBERON:0002084 | 81.03 | gold quality |
| rectum | UBERON:0001052 | 80.82 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.28 | gold quality |
| embryo | UBERON:0000922 | 80.17 | gold quality |
| ganglionic eminence | UBERON:0004023 | 80.17 | gold quality |
| right lobe of liver | UBERON:0001114 | 80.10 | gold quality |
| cardiac ventricle | UBERON:0002082 | 80.08 | gold quality |
| right atrium auricular region | UBERON:0006631 | 79.83 | gold quality |
| transverse colon | UBERON:0001157 | 79.80 | gold quality |
| leukocyte | CL:0000738 | 79.66 | gold quality |
| monocyte | CL:0000576 | 79.53 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 79.53 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 79.38 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.04 | gold quality |
| right adrenal gland | UBERON:0001233 | 78.77 | gold quality |
| apex of heart | UBERON:0002098 | 78.75 | gold quality |
| gall bladder | UBERON:0002110 | 78.73 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.92 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
118 targeting RPP14, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-150-5P | 99.99 | 66.69 | 1976 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-4778-3P | 99.93 | 70.40 | 1818 |
| HSA-MIR-6753-3P | 99.93 | 66.57 | 637 |
| HSA-MIR-7107-3P | 99.93 | 66.73 | 627 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| 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-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-6739-5P | 99.80 | 67.87 | 2806 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6733-5P | 99.74 | 67.94 | 2759 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-132-3P | 99.73 | 70.56 | 1424 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- A protein subunit of human RNase P, Rpp14, and its interacting partner, OIP2, have 3’–>5’ exoribonuclease activity. (PMID:11929972)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpp14 | ENSDARG00000011152 |
| mus_musculus | Rpp14 | ENSMUSG00000023156 |
| drosophila_melanogaster | Rpp14b | FBGN0039744 |
| drosophila_melanogaster | Rpp14a | FBGN0085346 |
Protein
Protein identifiers
Ribonuclease P protein subunit p14 — O95059 (reviewed: O95059)
All UniProt accessions (1): O95059
UniProt curated annotations — full annotation on UniProt →
Function. Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends.
Subunit / interactions. RNase P consists of a catalytic RNA moiety and about 10 protein subunits; POP1, POP4, POP5, POP7, RPP14, RPP21, RPP25, RPP30, RPP38 and RPP40. Within the RNase P complex, POP1, POP7 and RPP25 form the ‘finger’ subcomplex, POP5, RPP14, RPP40 and homodimeric RPP30 form the ‘palm’ subcomplex, and RPP21, POP4 and RPP38 form the ‘wrist’ subcomplex. All subunits of the RNase P complex interact with the catalytic RNA.
Subcellular location. Nucleus. Nucleolus.
Miscellaneous. This protein is produced by a bicistronic gene which also produces the HTD2 protein from an overlapping reading frame.
Similarity. Belongs to the eukaryotic/archaeal RNase P protein component 2 family.
RefSeq proteins (2): NP_001092253, NP_008973* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002759 | Pop5/Rpp14/Rnp2-like | Family |
| IPR038085 | Rnp2-like_sf | Homologous_superfamily |
Pfam: PF01900
Enzyme classification (BRENDA):
- EC 3.1.26.5 — ribonuclease P (BRENDA: 188 organisms, 407 substrates, 80 inhibitors, 54 Km, 43 kcat entries)
Substrate kinetics (BRENDA)
24 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| HUMAN PRE-TRNATYR | 0.0001–0.0005 | 5 |
| PRE-TRNATYR | — | 5 |
| PRE-TRNAASP | — | 4 |
| PTRNATYR | 0.0002–0.0305 | 4 |
| TRNA PRECURSOR | — | 4 |
| PRE-TRNA-TYR | 0.0001 | 2 |
| PRE-TRNATHR(AGT) | 0.0035–0.05 | 2 |
| RNASE P RIBOSWITCH A | 0.0064–0.0081 | 2 |
| TRNAPHE (G+1) PRECURSOR | — | 2 |
| TRNATYR | — | 2 |
| PMINI3PBUG | 0.0013 | 1 |
| PRE-TRNA | — | 1 |
| PRE-TRNA SUPS1 TRNASER | 0.0002 | 1 |
| PRE-TRNA-ASP | 0.0003 | 1 |
| PRE-TRNA-CYS | 0.0006 | 1 |
UniProt features (2 total): initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
5 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9UH7 | ELECTRON MICROSCOPY | 2.84 |
| 9UH9 | ELECTRON MICROSCOPY | 3.47 |
| 6AHU | ELECTRON MICROSCOPY | 3.66 |
| 6AHR | ELECTRON MICROSCOPY | 3.92 |
| 9UHA | ELECTRON MICROSCOPY | 3.93 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O95059-F1 | 79.59 | 0.06 |
Function
Pathways and Gene Ontology
Reactome pathways
6 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
| R-HSA-6791226 | Major pathway of rRNA processing in the nucleolus and cytosol |
| R-HSA-72306 | tRNA processing |
| R-HSA-72312 | rRNA processing |
| R-HSA-8868773 | rRNA processing in the nucleus and cytosol |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 195 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, BROWNE_HCMV_INFECTION_6HR_DN, GOMF_NUCLEASE_ACTIVITY, GOBP_TRNA_METABOLIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOMF_RNA_ENDONUCLEASE_ACTIVITY, TTGGAGA_MIR5155P_MIR519E, SANSOM_APC_TARGETS_UP, FLECHNER_BIOPSY_KIDNEY_TRANSPLANT_REJECTED_VS_OK_DN, MARTINEZ_RESPONSE_TO_TRABECTEDIN_DN, BURTON_ADIPOGENESIS_5, SPIELMAN_LYMPHOBLAST_EUROPEAN_VS_ASIAN_DN
GO Biological Process (2): tRNA 5’-leader removal (GO:0001682), tRNA processing (GO:0008033)
GO Molecular Function (4): ribonuclease P RNA binding (GO:0033204), RNA binding (GO:0003723), ribonuclease P activity (GO:0004526), protein binding (GO:0005515)
GO Cellular Component (7): nucleoplasm (GO:0005654), nucleolus (GO:0005730), multimeric ribonuclease P complex (GO:0030681), nucleus (GO:0005634), ribonuclease P complex (GO:0030677), endoribonuclease complex (GO:1902555), ribonucleoprotein complex (GO:1990904)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Metabolism of RNA | 2 |
| tRNA processing | 1 |
| rRNA processing in the nucleus and cytosol | 1 |
| rRNA processing | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| nuclear lumen | 2 |
| tRNA 5’-end processing | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| tRNA-specific ribonuclease activity | 1 |
| RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| ribonuclease P complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoribonuclease complex | 1 |
| ribonucleoprotein complex | 1 |
| endonuclease complex | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
428 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPP14 | SOWAHA | Q2M3V2 | 530 |
| RPP14 | KIAA1671 | Q9BY89 | 512 |
| RPP14 | ANKRD16 | Q6P6B7 | 507 |
| RPP14 | ZBTB34 | Q8NCN2 | 480 |
| RPP14 | TMEM154 | Q6P9G4 | 447 |
| RPP14 | RNF113A | O15541 | 400 |
| RPP14 | PMM2 | O15305 | 395 |
| RPP14 | RPN2 | P04844 | 370 |
| RPP14 | POP5 | Q969H6 | 353 |
| RPP14 | POP1 | Q99575 | 353 |
| RPP14 | RPP30 | P78346 | 353 |
| RPP14 | RPP21 | Q9H633 | 353 |
| RPP14 | POP4 | O95707 | 352 |
| RPP14 | MIPEP | Q99797 | 349 |
| RPP14 | TBX15 | Q96SF7 | 347 |
IntAct
63 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPP14 | RPP30 | psi-mi:“MI:0915”(physical association) | 0.890 |
| RPP25 | POP7 | psi-mi:“MI:0914”(association) | 0.810 |
| POP4 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.740 |
| RPP30 | POP7 | psi-mi:“MI:0914”(association) | 0.730 |
| RPP14 | POP5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP14 | RPP40 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP14 | RPP40 | psi-mi:“MI:0914”(association) | 0.670 |
| C18orf21 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| POP4 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| NPM1 | MPHOSPH10 | psi-mi:“MI:0914”(association) | 0.610 |
| ZNF277 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP14 | EXOSC8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPP14 | ACTN2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GEMIN2 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POP4 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP21 | POP7 | psi-mi:“MI:0914”(association) | 0.530 |
| SNRPC | SNRPGP15 | psi-mi:“MI:0914”(association) | 0.530 |
| POP7 | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP25L | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP14 | POP7 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP14 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RPP14 | PCNA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RPP14 | A2M | psi-mi:“MI:0915”(physical association) | 0.370 |
BioGRID (71): RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP14 (Reconstituted Complex), RPP30 (Reconstituted Complex), RPP40 (Reconstituted Complex), RPP14 (Affinity Capture-MS), IGSF21 (Two-hybrid), RPP14 (Two-hybrid)
ESM2 similar proteins: A5PK00, A7X672, B0K012, O08848, O43929, O54956, O95059, P10155, P11497, P13984, P39656, P42694, P57060, Q0JNK5, Q13085, Q13572, Q28559, Q29381, Q2HJF1, Q2T9L9, Q2YDI2, Q3U2J5, Q3ZBL5, Q53PC7, Q5F480, Q5M939, Q5R6Z7, Q5R812, Q5R9U9, Q5RB79, Q5SWU9, Q5U3V9, Q66HY7, Q6DC64, Q6DFV5, Q6NU27, Q6NYU2, Q80YV4, Q86VN1, Q8BY71
Diamond homologs: O95059, Q5RB79, Q9CQH8
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPP14 | “form complex” | “Ribonuclease MRP complex” | binding |
| RPP14 | “form complex” | “Nucleolar ribonuclease P complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 45 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 |
|---|---|---|---|
| tRNA processing | 5 | 61.5× | 2e-06 |
| tRNA processing in the nucleus | 7 | 47.5× | 2e-08 |
| rRNA processing in the nucleus and cytosol | 6 | 33.3× | 2e-06 |
| rRNA processing | 6 | 30.3× | 2e-06 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 7 | 14.9× | 1e-05 |
| Metabolism of RNA | 8 | 11.5× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| rRNA processing | 6 | 21.8× | 2e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
2 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
872 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:58310496:A:AG | acceptor_gain | 1.0000 |
| 3:58310497:C:G | acceptor_gain | 1.0000 |
| 3:58310502:TTTA:T | acceptor_loss | 1.0000 |
| 3:58310505:A:AG | acceptor_gain | 1.0000 |
| 3:58310505:A:T | acceptor_loss | 1.0000 |
| 3:58310506:G:GA | acceptor_gain | 1.0000 |
| 3:58310506:GA:G | acceptor_gain | 1.0000 |
| 3:58310506:GAGA:G | acceptor_gain | 1.0000 |
| 3:58310506:GAGAA:G | acceptor_gain | 1.0000 |
| 3:58310589:G:GT | donor_gain | 1.0000 |
| 3:58310589:G:T | donor_gain | 1.0000 |
| 3:58310589:GAGG:G | donor_loss | 1.0000 |
| 3:58310591:GGTA:G | donor_loss | 1.0000 |
| 3:58316587:AGCAG:A | donor_loss | 1.0000 |
| 3:58316589:CAGGT:C | donor_loss | 1.0000 |
| 3:58316590:AGG:A | donor_loss | 1.0000 |
| 3:58316591:GGTA:G | donor_loss | 1.0000 |
| 3:58316592:GTATG:G | donor_loss | 1.0000 |
| 3:58316593:T:A | donor_loss | 1.0000 |
| 3:58316913:A:AG | acceptor_gain | 1.0000 |
| 3:58316913:AGT:A | acceptor_gain | 1.0000 |
| 3:58316914:G:GA | acceptor_gain | 1.0000 |
| 3:58316914:GT:G | acceptor_gain | 1.0000 |
| 3:58316914:GTG:G | acceptor_gain | 1.0000 |
| 3:58310577:G:GT | donor_gain | 0.9900 |
| 3:58310587:GGGAG:G | donor_gain | 0.9900 |
| 3:58310588:GGAG:G | donor_gain | 0.9900 |
| 3:58310588:GGAGG:G | donor_gain | 0.9900 |
| 3:58310589:GAG:G | donor_gain | 0.9900 |
| 3:58316510:TGCA:T | acceptor_loss | 0.9900 |
AlphaMissense
791 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:58316570:C:A | A73D | 0.977 |
| 3:58316934:A:C | S87R | 0.977 |
| 3:58316936:C:A | S87R | 0.977 |
| 3:58316936:C:G | S87R | 0.977 |
| 3:58316983:G:C | R103P | 0.956 |
| 3:58317443:T:C | S108P | 0.956 |
| 3:58317478:G:C | R119S | 0.956 |
| 3:58317478:G:T | R119S | 0.956 |
| 3:58316986:T:A | V104E | 0.955 |
| 3:58310552:A:C | K41N | 0.952 |
| 3:58310552:A:T | K41N | 0.952 |
| 3:58316569:G:C | A73P | 0.952 |
| 3:58317473:A:C | S118R | 0.952 |
| 3:58317475:T:A | S118R | 0.952 |
| 3:58317475:T:G | S118R | 0.952 |
| 3:58316576:T:C | L75S | 0.951 |
| 3:58310557:T:C | L43P | 0.943 |
| 3:58316980:T:C | F102S | 0.942 |
| 3:58317453:T:A | L111H | 0.938 |
| 3:58317477:G:T | R119M | 0.937 |
| 3:58316580:A:C | R76S | 0.935 |
| 3:58316580:A:T | R76S | 0.935 |
| 3:58316947:T:C | L91P | 0.935 |
| 3:58310400:T:A | V24D | 0.930 |
| 3:58317462:T:C | L114S | 0.928 |
| 3:58317477:G:C | R119T | 0.923 |
| 3:58310390:T:G | Y21D | 0.917 |
| 3:58316973:T:C | C100R | 0.916 |
| 3:58310406:T:C | L26P | 0.915 |
| 3:58316976:G:C | A101P | 0.915 |
dbSNP variants (sampled 300 via entrez): RS1000274592 (3:58308684 T>G), RS1000635913 (3:58312825 G>T), RS1000643635 (3:58316767 G>A,C), RS1000969611 (3:58317989 G>A,C,T), RS1000990659 (3:58318553 T>C,G), RS1001110062 (3:58311456 A>G), RS1001188625 (3:58313747 C>A), RS1001243426 (3:58307506 C>G), RS1001318525 (3:58307920 G>A), RS1001370830 (3:58308290 T>A), RS1001373520 (3:58320654 A>G), RS1001561457 (3:58311287 T>C), RS1001563995 (3:58304480 G>A), RS1001773346 (3:58309157 C>T), RS1001818262 (3:58320375 C>G)
Disease associations
OMIM: gene MIM:606112 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006048_48 | Rheumatoid arthritis (ACPA-positive) | 1.000000e-08 |
| GCST006614_139 | Total cholesterol levels | 9.000000e-09 |
| GCST008163_613 | Height | 9.000000e-06 |
| GCST010002_426 | Refractive error | 5.000000e-14 |
| GCST010083_211 | Hemoglobin levels | 1.000000e-12 |
| GCST011878_5 | Mitochondrial heteroplasmy measurement | 3.000000e-14 |
| GCST90002401_120 | Platelet distribution width | 5.000000e-09 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004574 | total cholesterol measurement |
| EFO:0004509 | hemoglobin measurement |
| EFO:0600008 | mitochondrial heteroplasmy measurement |
| EFO:0007984 | platelet component distribution width |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases abundance, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| alpha phellandrene | decreases expression | 1 |
| glycidyl methacrylate | decreases expression | 1 |
| sodium arsenite | increases expression, increases abundance | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Vehicle Emissions | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Phthalic Acids | decreases methylation | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Rotenone | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Valproic Acid | affects expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 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.