POP5
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Summary
POP5 (POP5 ribonuclease P/MRP subunit, HGNC:17689) is a protein-coding gene on chromosome 12q24.31, encoding Ribonuclease P/MRP protein subunit POP5 (Q969H6). Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5’-ends. It is a common-essential gene (DepMap: required in 99.1% of cancer cell lines).
Enables ribonuclease P RNA binding activity. Contributes to ribonuclease P activity. Involved in tRNA 5’-leader removal. Located in nucleolus. Part of multimeric ribonuclease P complex and ribonuclease MRP complex.
Source: NCBI Gene 51367 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 19 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 99.1% of screened cell lines (common-essential)
- MANE Select transcript:
NM_015918
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:17689 |
| Approved symbol | POP5 |
| Name | POP5 ribonuclease P/MRP subunit |
| Location | 12q24.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000167272 |
| Ensembl biotype | protein_coding |
| OMIM | 609992 |
| Entrez | 51367 |
Gene structure
Transcript identifiers
Ensembl transcripts: 22 — 15 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000341039, ENST00000357500, ENST00000511394, ENST00000535245, ENST00000539716, ENST00000541834, ENST00000542568, ENST00000542776, ENST00000543355, ENST00000906575, ENST00000906576, ENST00000906577, ENST00000906578, ENST00000906579, ENST00000906580, ENST00000906581, ENST00000906582, ENST00000930091, ENST00000930092, ENST00000930093, ENST00000930094, ENST00000930095
RefSeq mRNA: 2 — MANE Select: NM_015918
NM_015918, NM_198202
CCDS: CCDS9202, CCDS9203
Canonical transcript exons
ENST00000357500 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001379374 | 120581115 | 120581257 |
| ENSE00002303901 | 120578764 | 120579412 |
| ENSE00003467103 | 120581343 | 120581402 |
| ENSE00003546420 | 120579774 | 120579923 |
| ENSE00003667745 | 120579514 | 120579597 |
Expression profiles
Bgee: expression breadth ubiquitous, 287 present calls, max score 96.43.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.8707 / max 125.1835, expressed in 1785 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 133668 | 14.8707 | 1785 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| mucosa of transverse colon | UBERON:0004991 | 96.43 | gold quality |
| right adrenal gland | UBERON:0001233 | 96.20 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.09 | gold quality |
| adenohypophysis | UBERON:0002196 | 95.97 | gold quality |
| metanephros cortex | UBERON:0010533 | 95.67 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.66 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.58 | gold quality |
| pituitary gland | UBERON:0000007 | 95.53 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.50 | gold quality |
| adrenal cortex | UBERON:0001235 | 95.32 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.91 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.90 | gold quality |
| right uterine tube | UBERON:0001302 | 94.87 | gold quality |
| spleen | UBERON:0002106 | 94.71 | gold quality |
| adrenal gland | UBERON:0002369 | 94.58 | gold quality |
| body of pancreas | UBERON:0001150 | 94.54 | gold quality |
| thyroid gland | UBERON:0002046 | 94.54 | gold quality |
| apex of heart | UBERON:0002098 | 94.51 | gold quality |
| granulocyte | CL:0000094 | 94.42 | gold quality |
| right atrium auricular region | UBERON:0006631 | 93.67 | gold quality |
| rectum | UBERON:0001052 | 93.61 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 93.54 | gold quality |
| left coronary artery | UBERON:0001626 | 93.49 | gold quality |
| transverse colon | UBERON:0001157 | 93.42 | gold quality |
| cardiac atrium | UBERON:0002081 | 93.38 | gold quality |
| right ovary | UBERON:0002118 | 93.25 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 93.23 | gold quality |
| heart left ventricle | UBERON:0002084 | 93.23 | gold quality |
| lymph node | UBERON:0000029 | 93.21 | gold quality |
| ileal mucosa | UBERON:0000331 | 93.18 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 10.82 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting POP5, 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-3618 | 99.69 | 68.57 | 1012 |
| HSA-MIR-6716-5P | 99.56 | 68.62 | 1244 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-136-5P | 99.50 | 67.26 | 1153 |
| HSA-MIR-4318 | 99.38 | 66.94 | 1505 |
| HSA-MIR-1912-3P | 99.32 | 67.40 | 936 |
| HSA-MIR-3692-5P | 99.29 | 67.04 | 1421 |
| HSA-MIR-1295B-5P | 99.03 | 67.50 | 810 |
| HSA-MIR-412-3P | 98.86 | 66.89 | 712 |
| HSA-MIR-6754-3P | 98.84 | 66.60 | 889 |
| HSA-MIR-26B-3P | 98.71 | 67.49 | 1102 |
| HSA-MIR-4703-5P | 98.53 | 70.13 | 1645 |
| HSA-MIR-3942-5P | 98.52 | 69.51 | 1517 |
| HSA-MIR-7114-5P | 98.51 | 67.87 | 1349 |
| HSA-MIR-4662A-5P | 98.48 | 67.18 | 1007 |
| HSA-MIR-4733-3P | 98.35 | 65.20 | 994 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-3190-3P | 97.61 | 66.95 | 1406 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-6858-3P | 96.37 | 64.41 | 771 |
| HSA-MIR-2861 | 95.24 | 65.47 | 1056 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.1% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 2)
- Molecular mechanism by which Cartilage-hair hypolasia-associated mutations affect the function of RNase MRP. (PMID:18164267)
- archaeal homologs of the human RNase P proteins Pop5 and Rpp30 (PMID:25704799)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pop5 | ENSDARG00000053452 |
| mus_musculus | Pop5 | ENSMUSG00000060152 |
| rattus_norvegicus | Pop5 | ENSRNOG00000001199 |
| drosophila_melanogaster | Pop5 | FBGN0036696 |
| caenorhabditis_elegans | WBGENE00013422 |
Protein
Protein identifiers
Ribonuclease P/MRP protein subunit POP5 — Q969H6 (reviewed: Q969H6)
All UniProt accessions (1): Q969H6
UniProt curated annotations — full annotation on UniProt →
Function. Component of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5’-ends. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences.
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.
Miscellaneous. The last C-terminal 19 amino acids are not required for complex association and RNase activity.
Similarity. Belongs to the eukaryotic/archaeal RNase P protein component 2 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q969H6-1 | 1 | yes |
| Q969H6-2 | 2 |
RefSeq proteins (2): NP_057002, NP_937845 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002759 | Pop5/Rpp14/Rnp2-like | Family |
| IPR016819 | RNase_P/MRP_POP5 | 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 (6 total): sequence conflict 3, chain 1, modified residue 1, splice variant 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-Q969H6-F1 | 90.76 | 0.74 |
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): 154
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
MSigDB gene sets: 133 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_NUCLEASE_ACTIVITY, GOBP_TRNA_METABOLIC_PROCESS, AATGGAG_MIR136, PUJANA_CHEK2_PCC_NETWORK, MUELLER_PLURINET, GOMF_RNA_ENDONUCLEASE_ACTIVITY, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, BLALOCK_ALZHEIMERS_DISEASE_UP, TIEN_INTESTINE_PROBIOTICS_24HR_UP, MORF_AATF, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS
GO Biological Process (3): tRNA 5’-leader removal (GO:0001682), rRNA processing (GO:0006364), tRNA processing (GO:0008033)
GO Molecular Function (4): ribonuclease P activity (GO:0004526), ribonuclease P RNA binding (GO:0033204), RNA binding (GO:0003723), protein binding (GO:0005515)
GO Cellular Component (7): ribonuclease MRP complex (GO:0000172), nucleoplasm (GO:0005654), nucleolar ribonuclease P complex (GO:0005655), nucleolus (GO:0005730), multimeric ribonuclease P complex (GO:0030681), nucleus (GO:0005634), ribonuclease P complex (GO:0030677)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| tRNA processing | 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 |
| tRNA metabolic process | 1 |
| tRNA-specific ribonuclease activity | 1 |
| RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism | 1 |
| RNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| sno(s)RNA-containing ribonucleoprotein complex | 1 |
| cellular anatomical structure | 1 |
| nucleolus | 1 |
| multimeric ribonuclease P complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| ribonuclease P complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| ribonucleoprotein complex | 1 |
Protein interactions and networks
STRING
804 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POP5 | RPP30 | P78346 | 998 |
| POP5 | POP4 | O95707 | 993 |
| POP5 | RPP38 | P78345 | 986 |
| POP5 | RPP25 | Q9BUL9 | 978 |
| POP5 | RPP40 | O75818 | 963 |
| POP5 | POP7 | O75817 | 891 |
| POP5 | RPLP1 | P05386 | 779 |
| POP5 | PTER | Q96BW5 | 655 |
| POP5 | PRORP | O15091 | 648 |
| POP5 | DCLRE1A | Q6PJP8 | 591 |
| POP5 | POP1 | Q99575 | 544 |
| POP5 | RPP25L | Q8N5L8 | 534 |
| POP5 | RPP21 | Q9H633 | 514 |
| POP5 | COPS7B | Q9H9Q2 | 383 |
| POP5 | RPP14 | O95059 | 353 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPP25 | POP7 | psi-mi:“MI:0914”(association) | 0.810 |
| RPP30 | POP5 | psi-mi:“MI:0915”(physical association) | 0.740 |
| RPP30 | POP7 | psi-mi:“MI:0914”(association) | 0.730 |
| CCDC102B | POP5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TRAF1 | POP5 | psi-mi:“MI:0915”(physical association) | 0.720 |
| POP5 | CEP44 | psi-mi:“MI:0915”(physical association) | 0.720 |
| POP5 | CCDC102B | psi-mi:“MI:0915”(physical association) | 0.720 |
| POP5 | POP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| POP4 | POP5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP14 | POP5 | psi-mi:“MI:0915”(physical association) | 0.670 |
| RPP25 | POP5 | 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 |
| REL | POP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CAMK2B | POP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POP5 | KRT40 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POP5 | REL | psi-mi:“MI:0915”(physical association) | 0.560 |
| POP5 | CAMK2B | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT40 | POP5 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (61): POP5 (Two-hybrid), POP5 (Two-hybrid), POP5 (Two-hybrid), CCDC102B (Two-hybrid), CEP44 (Two-hybrid), KRT40 (Two-hybrid), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), POP5 (Affinity Capture-MS), RPP25 (Reconstituted Complex)
ESM2 similar proteins: A0A1L8F8I9, A2ARP1, B8B624, E7EXT2, F1S5L4, O95822, P0C644, P0C7N9, P28005, P38208, P41229, P53370, P97564, Q08BC6, Q14AI0, Q14BI7, Q1JQ92, Q24087, Q24169, Q28647, Q2KI89, Q32PH0, Q3MHU3, Q3U0M1, Q5BJI6, Q5GJ77, Q5JS54, Q61586, Q66I84, Q68F70, Q6AWV1, Q6GL75, Q6GMB0, Q6PD24, Q75B32, Q7XAM0, Q7Z2Z2, Q7ZU90, Q811G0, Q8BSA9
Diamond homologs: Q1JQ92, Q54EP3, Q5BJI6, Q969H6, Q9DB28, Q6AWV1, Q9UU90
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| POP5 | “form complex” | “Ribonuclease MRP complex” | binding |
| POP5 | “form complex” | “Nucleolar ribonuclease P complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 37 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 | 107.1× | 8e-10 |
| tRNA processing in the nucleus | 8 | 78.8× | 5e-12 |
| rRNA processing in the nucleus and cytosol | 6 | 48.2× | 8e-08 |
| rRNA processing | 6 | 43.9× | 1e-07 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 6 | 18.5× | 1e-05 |
| Metabolism of RNA | 8 | 16.7× | 3e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| rRNA processing | 6 | 27.4× | 4e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
19 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 4682808 | GRCh37/hg19 12q24.21-24.33(chr12:116422123-133777902)x3 | Pathogenic |
SpliceAI
748 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:120581338:CTTA:C | donor_loss | 1.0000 |
| 12:120581339:TTAC:T | donor_loss | 1.0000 |
| 12:120581340:TA:T | donor_loss | 1.0000 |
| 12:120581341:A:AC | donor_gain | 1.0000 |
| 12:120581341:A:AT | donor_loss | 1.0000 |
| 12:120581342:C:CC | donor_gain | 1.0000 |
| 12:120579653:T:C | acceptor_gain | 0.9900 |
| 12:120581096:T:TA | donor_gain | 0.9900 |
| 12:120581097:C:A | donor_gain | 0.9900 |
| 12:120581106:C:CA | donor_gain | 0.9900 |
| 12:120581181:CGAGG:C | donor_gain | 0.9900 |
| 12:120581342:CCT:C | donor_gain | 0.9900 |
| 12:120579924:C:CC | acceptor_gain | 0.9800 |
| 12:120581341:AC:A | donor_gain | 0.9800 |
| 12:120581342:CC:C | donor_gain | 0.9800 |
| 12:120579410:CTC:C | acceptor_gain | 0.9700 |
| 12:120579652:C:CC | acceptor_gain | 0.9700 |
| 12:120579759:C:CT | donor_gain | 0.9700 |
| 12:120579814:T:TA | donor_gain | 0.9700 |
| 12:120581102:AGCGC:A | donor_gain | 0.9700 |
| 12:120581111:G:A | donor_gain | 0.9700 |
| 12:120581160:C:CA | donor_gain | 0.9700 |
| 12:120581342:CCTG:C | donor_gain | 0.9700 |
| 12:120581342:CCTGT:C | donor_gain | 0.9700 |
| 12:120579651:ACTTT:A | acceptor_gain | 0.9600 |
| 12:120579652:CTTTC:C | acceptor_gain | 0.9600 |
| 12:120581152:T:TA | donor_gain | 0.9600 |
| 12:120579760:C:CT | donor_gain | 0.9500 |
| 12:120579656:C:CT | acceptor_gain | 0.9300 |
| 12:120579776:C:A | donor_gain | 0.9300 |
AlphaMissense
1047 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:120581343:C:A | R7M | 0.999 |
| 12:120579594:G:A | T106I | 0.998 |
| 12:120581144:C:T | G45D | 0.997 |
| 12:120579581:A:C | C110W | 0.996 |
| 12:120579583:A:G | C110R | 0.996 |
| 12:120579597:C:T | G105D | 0.996 |
| 12:120579776:C:T | G104E | 0.996 |
| 12:120579910:A:C | N59K | 0.996 |
| 12:120579910:A:T | N59K | 0.996 |
| 12:120581153:C:A | G42V | 0.996 |
| 12:120581153:C:T | G42E | 0.996 |
| 12:120581343:C:G | R7T | 0.996 |
| 12:120581348:C:A | K5N | 0.996 |
| 12:120581348:C:G | K5N | 0.996 |
| 12:120579570:A:G | L114P | 0.995 |
| 12:120579572:G:C | F113L | 0.995 |
| 12:120579572:G:T | F113L | 0.995 |
| 12:120579574:A:G | F113L | 0.995 |
| 12:120579582:C:T | C110Y | 0.995 |
| 12:120581247:A:G | C11R | 0.995 |
| 12:120581257:C:A | R7S | 0.995 |
| 12:120581257:C:G | R7S | 0.995 |
| 12:120579591:A:T | I107K | 0.994 |
| 12:120579546:A:G | L122P | 0.993 |
| 12:120579579:T:G | Q111P | 0.993 |
| 12:120579777:C:G | G104R | 0.993 |
| 12:120579777:C:T | G104R | 0.993 |
| 12:120579845:A:C | L81R | 0.993 |
| 12:120579923:A:T | V55D | 0.993 |
| 12:120581249:A:T | L10H | 0.993 |
dbSNP variants (sampled 300 via entrez): RS1000106196 (12:120581524 A>C), RS1000492739 (12:120582506 A>C,G), RS1001534288 (12:120581355 C>A,G), RS1001604947 (12:120578475 G>A,T), RS1004872725 (12:120578695 G>A,C), RS1005010871 (12:120578873 T>C), RS1005310461 (12:120578416 G>A), RS1005554142 (12:120580731 G>A), RS1005891867 (12:120581774 C>T), RS1007574554 (12:120583288 C>A), RS1008747622 (12:120580334 A>G), RS1009056512 (12:120578990 A>G), RS1009111251 (12:120580608 TCAAA>T), RS1009673470 (12:120582791 C>G), RS1010356746 (12:120578824 T>C)
Disease associations
OMIM: gene MIM:609992 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004611_192 | High light scatter reticulocyte count | 2.000000e-83 |
| GCST007576_31 | Chronotype | 3.000000e-09 |
| GCST008759_15 | Intake of total sugars | 3.000000e-07 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007986 | reticulocyte count |
| EFO:0008328 | chronotype measurement |
| EFO:0010158 | sugar consumption measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
42 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, affects cotreatment, increases expression | 5 |
| Particulate Matter | increases abundance, affects cotreatment, decreases expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| Air Pollutants | increases abundance, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| sodium arsenite | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| isobutyl alcohol | affects cotreatment, decreases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| deguelin | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | decreases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | decreases expression, increases response to substance | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| picoxystrobin | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Dexamethasone | increases expression | 1 |
| Diuron | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3EA | Abcam HEK293T POP5 KO | Transformed cell line | Female |
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.