POP4
gene geneOn this page
Also known as RPP29
Summary
POP4 (POP4 ribonuclease P/MRP subunit, HGNC:30081) is a protein-coding gene on chromosome 19q12, encoding Ribonuclease P protein subunit p29 (O95707). Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. It is a selective cancer dependency (DepMap: 86.8% of cell lines).
This gene encodes one of the protein subunits of the small nucleolar ribonucleoprotein complexes: the endoribonuclease for mitochondrial RNA processing complex and the ribonuclease P complex. The encoded protein is localized to the nucleus and associates directly with the RNA component of these complexes. This protein is involved in processing of precursor RNAs. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 10775 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 62 total
- Cancer dependency (DepMap): dependent in 86.8% of screened cell lines
- MANE Select transcript:
NM_006627
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30081 |
| Approved symbol | POP4 |
| Name | POP4 ribonuclease P/MRP subunit |
| Location | 19q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPP29 |
| Ensembl gene | ENSG00000105171 |
| Ensembl biotype | protein_coding |
| OMIM | 606114 |
| Entrez | 10775 |
Gene structure
Transcript identifiers
Ensembl transcripts: 15 — 6 protein_coding, 4 retained_intron, 3 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000221770, ENST00000585603, ENST00000586136, ENST00000586173, ENST00000586420, ENST00000586823, ENST00000587232, ENST00000588551, ENST00000590688, ENST00000591061, ENST00000591824, ENST00000592749, ENST00000592759, ENST00000858464, ENST00000912733
RefSeq mRNA: 1 — MANE Select: NM_006627
NM_006627
CCDS: CCDS12416
Canonical transcript exons
ENST00000585603 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000821573 | 29615244 | 29617237 |
| ENSE00003537575 | 29613871 | 29613972 |
| ENSE00003582969 | 29610409 | 29610632 |
| ENSE00003623133 | 29608657 | 29608709 |
| ENSE00003652251 | 29611862 | 29611939 |
| ENSE00003691406 | 29612117 | 29612178 |
| ENSE00003694498 | 29606283 | 29606325 |
Expression profiles
Bgee: expression breadth ubiquitous, 296 present calls, max score 95.86.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.1599 / max 162.5754, expressed in 1823 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175004 | 26.1158 | 1823 |
| 175005 | 0.0442 | 21 |
Top tissues by expression
298 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right adrenal gland | UBERON:0001233 | 95.86 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 95.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.31 | gold quality |
| granulocyte | CL:0000094 | 95.19 | gold quality |
| right coronary artery | UBERON:0001625 | 95.14 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.06 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 95.00 | gold quality |
| buccal mucosa cell | CL:0002336 | 94.99 | gold quality |
| left coronary artery | UBERON:0001626 | 94.91 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 94.88 | gold quality |
| lower esophagus | UBERON:0013473 | 94.87 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 94.82 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 94.70 | gold quality |
| body of pancreas | UBERON:0001150 | 94.52 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.47 | gold quality |
| esophagus | UBERON:0001043 | 94.41 | gold quality |
| rectum | UBERON:0001052 | 94.37 | gold quality |
| popliteal artery | UBERON:0002250 | 94.35 | gold quality |
| tibial artery | UBERON:0007610 | 94.35 | gold quality |
| transverse colon | UBERON:0001157 | 94.30 | gold quality |
| body of stomach | UBERON:0001161 | 94.30 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 94.30 | gold quality |
| coronary artery | UBERON:0001621 | 94.27 | gold quality |
| aorta | UBERON:0000947 | 94.19 | gold quality |
| esophagus mucosa | UBERON:0002469 | 94.16 | gold quality |
| adrenal gland | UBERON:0002369 | 94.13 | gold quality |
| thoracic aorta | UBERON:0001515 | 94.11 | gold quality |
| apex of heart | UBERON:0002098 | 94.11 | gold quality |
| calcaneal tendon | UBERON:0003701 | 94.08 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.07 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.23 |
| E-CURD-11 | no | 217.44 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
52 targeting POP4, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-MIR-30A-3P | 99.87 | 69.74 | 2928 |
| HSA-MIR-30D-3P | 99.87 | 69.92 | 2917 |
| HSA-MIR-30E-3P | 99.87 | 69.68 | 2942 |
| HSA-MIR-4420 | 99.82 | 70.08 | 1624 |
| HSA-MIR-6515-3P | 99.82 | 68.19 | 1933 |
| HSA-MIR-181B-2-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-181B-3P | 99.81 | 70.06 | 1646 |
| HSA-MIR-4694-3P | 99.79 | 69.53 | 2640 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-6745 | 99.74 | 65.33 | 1321 |
| HSA-MIR-12129 | 99.72 | 67.45 | 1311 |
| HSA-MIR-4802-3P | 99.72 | 70.13 | 1273 |
| HSA-MIR-4310 | 99.59 | 68.84 | 2527 |
| HSA-MIR-6727-3P | 99.49 | 65.92 | 1333 |
| HSA-MIR-1275 | 99.47 | 67.90 | 2749 |
| HSA-MIR-363-5P | 99.46 | 64.51 | 1015 |
| HSA-MIR-377-3P | 99.37 | 70.18 | 1905 |
| HSA-MIR-4722-3P | 99.35 | 65.22 | 1099 |
| HSA-MIR-145-3P | 99.33 | 67.66 | 764 |
| HSA-MIR-4505 | 99.27 | 67.81 | 2678 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 86.8% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 4)
- Rpp29 represses H3.3 nucleosome deposition, a finding with implications for epigenetic regulation. (PMID:26842893)
- Collectively, the present results suggest that PhoRpp21 binds the loop between P11 and P12 helices through overall positively charged clusters on the surface of the complex and serves as a scaffold for PhoRpp29 to optimize structural conformation of its N-terminal helix (alpha2) in PhoRpp21, as well as C-terminal residues in PhoRpp29, for RNase P activity. (PMID:27810361)
- Results demonstrate that Rpp29 promotes homology-directed repair of double-strand breaks. It is rapidly and transiently recruited to laser-microirradiated DNA sites. (PMID:28432356)
- Rpp29 regulates H3.3-mediated epigenetic mechanisms by processing a transcribed signal that recruits H3.3 to its incorporation sites (PMID:29921582)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pop4 | ENSDARG00000101472 |
| mus_musculus | Pop4 | ENSMUSG00000030423 |
| rattus_norvegicus | Pop4 | ENSRNOG00000027646 |
| drosophila_melanogaster | Pop4 | FBGN0035831 |
| caenorhabditis_elegans | popl-4 | WBGENE00007603 |
Protein
Protein identifiers
Ribonuclease P protein subunit p29 — O95707 (reviewed: O95707)
All UniProt accessions (6): A0A0A0MQS4, O95707, K7EK50, K7EQV2, K7ERD7, K7ESH8
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. Component of nuclear RNase P and RNase MRP ribonucleoproteins. RNase P consists of a catalytic RNA moiety and 10 different protein chains; 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. Several subunits of RNase P are also part of the RNase MRP complex. RNase MRP consists of a catalytic RNA moiety and about 8 protein subunits; POP1, POP7, RPP25, RPP30, RPP38, RPP40 and possibly also POP4 and POP5.
Subcellular location. Nucleus. Nucleolus.
Similarity. Belongs to the eukaryotic/archaeal RNase P protein component 1 family.
RefSeq proteins (1): NP_006618* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002730 | Rpp29/RNP1 | Family |
| IPR016848 | RNase_P/MRP_Rpp29-subunit | Family |
| IPR023534 | Rof/RNase_P-like | Homologous_superfamily |
| IPR036980 | RNase_P/MRP_Rpp29_sf | Homologous_superfamily |
Pfam: PF01868
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 (3 total): chain 1, modified residue 1, sequence conflict 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-O95707-F1 | 83.97 | 0.42 |
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): 10
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
| R-HSA-72306 | tRNA processing |
| R-HSA-8953854 | Metabolism of RNA |
MSigDB gene sets: 171 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, MORF_MSH3, GOMF_NUCLEASE_ACTIVITY, SHEPARD_CRASH_AND_BURN_MUTANT_UP, MORF_BRCA1, GOBP_TRNA_METABOLIC_PROCESS, MORF_ATRX, PUJANA_CHEK2_PCC_NETWORK, WEI_MYCN_TARGETS_WITH_E_BOX, GOMF_RNA_ENDONUCLEASE_ACTIVITY, KOYAMA_SEMA3B_TARGETS_UP, MORF_PPP5C, MORF_RAP1A
GO Biological Process (4): tRNA 5’-leader removal (GO:0001682), rRNA processing (GO:0006364), RNA processing (GO:0006396), 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 (6): ribonuclease MRP complex (GO:0000172), nucleoplasm (GO:0005654), nucleolus (GO:0005730), ribonuclease P complex (GO:0030677), multimeric ribonuclease P complex (GO:0030681), nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA processing | 2 |
| endoribonuclease complex | 2 |
| nuclear lumen | 2 |
| tRNA 5’-end processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 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 |
| sno(s)RNA-containing ribonucleoprotein complex | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| ribonucleoprotein complex | 1 |
| ribonuclease P complex | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1386 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POP4 | RPP30 | P78346 | 999 |
| POP4 | RPP38 | P78345 | 998 |
| POP4 | RPP25 | Q9BUL9 | 995 |
| POP4 | RPP40 | O75818 | 994 |
| POP4 | POP5 | Q969H6 | 993 |
| POP4 | POP7 | O75817 | 769 |
| POP4 | POP1 | Q99575 | 667 |
| POP4 | FBL | P22087 | 578 |
| POP4 | RPP21 | Q9H633 | 543 |
| POP4 | DCLRE1A | Q6PJP8 | 519 |
| POP4 | PRORP | O15091 | 453 |
| POP4 | RPL23A | P29316 | 431 |
| POP4 | ADI1 | Q9BV57 | 430 |
| POP4 | RPP25L | Q8N5L8 | 415 |
| POP4 | LINC03042 | Q6ZUL3 | 359 |
IntAct
86 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POP1 | POP4 | psi-mi:“MI:0915”(physical association) | 0.740 |
| RPP38 | POP4 | psi-mi:“MI:0915”(physical association) | 0.740 |
| POP4 | RPP38 | psi-mi:“MI:0915”(physical association) | 0.740 |
| POP4 | RPP14 | psi-mi:“MI:0915”(physical association) | 0.740 |
| POP5 | POP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| POP4 | POP5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| POP4 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | POP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| POP4 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| C18orf21 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| TOR1AIP2 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| VSIG4 | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| IL20RA | UPK3BL1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPL18A | RRP8 | psi-mi:“MI:0914”(association) | 0.530 |
| POP4 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| PPP1R15A | POP4 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP21 | POP7 | psi-mi:“MI:0914”(association) | 0.530 |
| VTN | HAT1 | psi-mi:“MI:0914”(association) | 0.530 |
| RBM4 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| POP7 | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
| POP4 | RPP40 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (147): POP1 (Affinity Capture-MS), RPP25L (Affinity Capture-MS), C3orf17 (Affinity Capture-MS), PRKCSH (Affinity Capture-MS), NPM1 (Affinity Capture-MS), RPP40 (Affinity Capture-MS), POP5 (Affinity Capture-MS), C18orf21 (Affinity Capture-MS), RPP38 (Affinity Capture-MS), POP7 (Affinity Capture-MS), RPP14 (Affinity Capture-MS), RPP30 (Affinity Capture-MS), RPP25 (Affinity Capture-MS), POP4 (Affinity Capture-MS), POP4 (Affinity Capture-MS)
ESM2 similar proteins: A6QPQ5, A9X1A9, O95707, P0C2C1, P82664, P82670, P82675, P82915, P82919, P82933, Q08BI9, Q0P5E7, Q0VFH6, Q2KIB9, Q2KID9, Q2KIJ6, Q2TBK2, Q2TBR2, Q3MHY7, Q3SYS0, Q3T040, Q58DQ5, Q58DV5, Q5C9Z4, Q5R7B0, Q5REJ1, Q5REY4, Q5RFM3, Q641X9, Q7Z2W9, Q7Z7H8, Q8N3Z3, Q8TCC3, Q924T2, Q99N85, Q99N87, Q99N94, Q9BSH4, Q9BYD2, Q9BYD6
Diamond homologs: O28362, O95707, P38336, Q2KIB9, Q5M882, Q5R7B0, Q8U007, Q9CR08, Q9P7W9, Q9ZW76, A1RXG4, A2BMC7, A3DNB5, A5UL80, A6UQ52, A6UWU6, A8AA22, A9A5I7, B0R664, B6YSM2, B8D5W2, C6A168, O24785, O26119, O59425, P14022, P22527, P60832, P60834, Q12ZU3, Q2NFW5, Q46GA3, Q57903, Q5JDH8, Q8PV42, Q8TGY6, Q8TRT9, Q97BW8, Q9V1U4, Q9YF79
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| POP4 | “form complex” | “Ribonuclease MRP complex” | binding |
| POP4 | “form complex” | “Nucleolar ribonuclease P complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 91 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 | 6 | 38.9× | 4e-07 |
| tRNA processing in the nucleus | 9 | 32.2× | 4e-10 |
| rRNA processing in the nucleus and cytosol | 10 | 29.2× | 3e-10 |
| rRNA processing | 10 | 26.6× | 3e-10 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 13 | 14.6× | 3e-10 |
| Metabolism of RNA | 10 | 7.6× | 3e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| tRNA processing | 5 | 57.7× | 4e-06 |
| rRNA processing | 11 | 21.3× | 9e-10 |
| ribosomal small subunit biogenesis | 5 | 15.6× | 2e-03 |
| cytoplasmic translation | 6 | 15.2× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
62 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 41 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
1444 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:29611893:T:A | W106R | 0.995 |
| 19:29611893:T:C | W106R | 0.995 |
| 19:29612166:G:C | A138P | 0.995 |
| 19:29612164:G:A | G137E | 0.994 |
| 19:29615306:G:T | G197W | 0.994 |
| 19:29615307:G:A | G197E | 0.994 |
| 19:29612151:G:C | A133P | 0.993 |
| 19:29613879:T:C | S145P | 0.992 |
| 19:29615254:G:C | K179N | 0.992 |
| 19:29615254:G:T | K179N | 0.992 |
| 19:29615337:G:C | R207P | 0.991 |
| 19:29613910:G:A | G155E | 0.990 |
| 19:29615268:T:C | F184S | 0.990 |
| 19:29612150:G:C | K132N | 0.989 |
| 19:29612150:G:T | K132N | 0.989 |
| 19:29612152:C:A | A133E | 0.989 |
| 19:29612163:G:T | G137W | 0.989 |
| 19:29612158:T:C | L135P | 0.988 |
| 19:29611915:T:C | L113P | 0.987 |
| 19:29612167:C:A | A138D | 0.987 |
| 19:29613880:C:T | S145F | 0.987 |
| 19:29613925:A:T | E160V | 0.987 |
| 19:29615356:A:C | K213N | 0.987 |
| 19:29615356:A:T | K213N | 0.987 |
| 19:29612164:G:T | G137V | 0.986 |
| 19:29612143:T:C | L130P | 0.985 |
| 19:29613871:T:A | V142E | 0.985 |
| 19:29613909:G:A | G155R | 0.985 |
| 19:29613909:G:C | G155R | 0.985 |
| 19:29611891:T:C | L105P | 0.984 |
dbSNP variants (sampled 300 via entrez): RS1000012428 (19:29613266 C>G,T), RS1000661202 (19:29617326 C>A), RS1000879744 (19:29606903 G>A), RS1000928579 (19:29617140 T>C), RS1001480607 (19:29609535 T>A,C), RS1001511639 (19:29609293 C>A), RS1001785488 (19:29614321 G>A,T), RS1001844033 (19:29610387 G>A,C,T), RS1001994135 (19:29612475 G>T), RS1002005480 (19:29605534 A>AT), RS1002079486 (19:29617593 T>C), RS1002386441 (19:29607252 C>T), RS1002582500 (19:29609531 G>C), RS1002659911 (19:29615016 T>C), RS1002876260 (19:29604545 C>A,T)
Disease associations
OMIM: gene MIM:606114 | 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 |
|---|---|---|
| GCST005787_29 | Heart rate response to exercise | 3.000000e-09 |
| GCST005845_11 | Heart rate increase in response to exercise | 1.000000e-09 |
| GCST005848_7 | Heart rate response to recovery post exercise (50 sec) | 1.000000e-09 |
| GCST005849_9 | Heart rate response to recovery post exercise (40 sec) | 4.000000e-09 |
| GCST005951_21 | Body mass index | 4.000000e-09 |
| GCST009391_657 | Metabolite levels | 2.000000e-06 |
| GCST009391_66 | Metabolite levels | 7.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0009184 | heart rate response to exercise |
| EFO:0009185 | heart rate response to recovery post exercise |
| EFO:0004340 | body mass index |
| EFO:0010507 | lactose measurement |
| EFO:0010352 | diacylglycerol 34:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | affects cotreatment, increases abundance, increases expression | 4 |
| Cisplatin | increases expression, affects response to substance | 2 |
| GSK-J4 | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| bisphenol A | decreases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Disulfiram | affects binding, decreases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| T-2 Toxin | increases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Lactic Acid | 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.