POP7
gene geneOn this page
Also known as RPP20RPP2
Summary
POP7 (POP7 ribonuclease P/MRP subunit, HGNC:19949) is a protein-coding gene on chromosome 7q22.1, encoding Ribonuclease P protein subunit p20 (O75817). Component of ribonuclease P, a ribonucleoprotein complex that generates mature tRNA molecules by cleaving their 5’-ends. It is a selective cancer dependency (DepMap: 77.3% of 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 10248 — RefSeq curated summary.
At a glance
- GWAS associations: 13
- Clinical variants (ClinVar): 24 total
- Cancer dependency (DepMap): dependent in 77.3% of screened cell lines
- MANE Select transcript:
NM_005837
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19949 |
| Approved symbol | POP7 |
| Name | POP7 ribonuclease P/MRP subunit |
| Location | 7q22.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPP20, RPP2 |
| Ensembl gene | ENSG00000172336 |
| Ensembl biotype | protein_coding |
| OMIM | 606113 |
| Entrez | 10248 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 13 protein_coding
ENST00000303151, ENST00000457480, ENST00000910791, ENST00000934891, ENST00000934892, ENST00000934893, ENST00000934894, ENST00000934895, ENST00000934896, ENST00000934897, ENST00000934898, ENST00000934899, ENST00000947209
RefSeq mRNA: 1 — MANE Select: NM_005837
NM_005837
CCDS: CCDS5704
Canonical transcript exons
ENST00000303151 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001130441 | 100706121 | 100706304 |
| ENSE00001144096 | 100706821 | 100707486 |
Expression profiles
Bgee: expression breadth ubiquitous, 268 present calls, max score 94.06.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 38.4912 / max 192.1535, expressed in 1811 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80052 | 31.1112 | 1796 |
| 80051 | 7.3801 | 1753 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| prefrontal cortex | UBERON:0000451 | 94.06 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.02 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 93.89 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.66 | gold quality |
| muscle of leg | UBERON:0001383 | 93.61 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 93.55 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.31 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 93.24 | gold quality |
| skin of leg | UBERON:0001511 | 93.06 | gold quality |
| right lobe of liver | UBERON:0001114 | 92.99 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.81 | gold quality |
| skin of abdomen | UBERON:0001416 | 92.69 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 92.66 | gold quality |
| pancreatic ductal cell | CL:0002079 | 92.44 | gold quality |
| cortical plate | UBERON:0005343 | 92.34 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 92.30 | gold quality |
| apex of heart | UBERON:0002098 | 92.09 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.05 | gold quality |
| cerebellar cortex | UBERON:0002129 | 91.96 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.96 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.95 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.83 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.62 | gold quality |
| zone of skin | UBERON:0000014 | 91.60 | gold quality |
| neocortex | UBERON:0001950 | 91.43 | gold quality |
| frontal cortex | UBERON:0001870 | 91.33 | gold quality |
| muscle organ | UBERON:0001630 | 91.13 | gold quality |
| nucleus accumbens | UBERON:0001882 | 91.06 | gold quality |
| cerebellum | UBERON:0002037 | 91.00 | gold quality |
| caudate nucleus | UBERON:0001873 | 90.90 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.65 |
| E-GEOD-109979 | no | 113.83 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
21 targeting POP7, 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-454-3P | 99.91 | 74.01 | 1925 |
| HSA-MIR-130A-3P | 99.90 | 73.31 | 1861 |
| HSA-MIR-130B-3P | 99.90 | 73.27 | 1850 |
| HSA-MIR-301A-3P | 99.90 | 73.15 | 1839 |
| HSA-MIR-301B-3P | 99.90 | 73.19 | 1836 |
| HSA-MIR-3666 | 99.90 | 73.24 | 1833 |
| HSA-MIR-4295 | 99.90 | 73.11 | 1838 |
| HSA-MIR-4671-3P | 99.88 | 72.46 | 1045 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-8076 | 99.78 | 68.52 | 1170 |
| HSA-MIR-7150 | 99.62 | 66.80 | 1322 |
| HSA-MIR-1290 | 99.59 | 69.90 | 2079 |
| HSA-MIR-12117 | 99.50 | 67.57 | 868 |
| HSA-MIR-6080 | 99.43 | 69.43 | 373 |
| HSA-MIR-942-3P | 98.81 | 69.04 | 876 |
| HSA-MIR-7113-5P | 97.88 | 67.33 | 1735 |
| HSA-MIR-512-5P | 97.47 | 66.48 | 591 |
| HSA-MIR-4712-5P | 97.24 | 67.79 | 775 |
| HSA-MIR-770-5P | 97.24 | 68.10 | 758 |
| HSA-MIR-7847-3P | 96.63 | 64.58 | 952 |
| HSA-MIR-12115 | 94.19 | 66.37 | 738 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 77.3% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- analyses of interactions with deletion mutant proteins indicate that the Alba-type core domain of both Rpp20 and Rpp25 contains most of the determinants for mutual association and P3 RNA recognition. (PMID:20215441)
- Study showed the crystal structure of Rpp20/Rpp25 complex, and confirmed that Rpp20 and Rpp25 exhibit similar molecular structures to one another, to their yeast homologs (Pop7 andPop6, respectively), and to archaeal Alba proteins. These proteins do not seem to undergo significant conformational change upon RNA binding, suggesting that they interact with their cognate RNAs via a pre-formed binding surface. (PMID:29625199)
- RNA binding protein POP7 regulates ILF3 mRNA stability and expression to promote breast cancer progression. (PMID:35579257)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pop7 | ENSDARG00000036394 |
| mus_musculus | Pop7 | ENSMUSG00000029715 |
| rattus_norvegicus | Pop7 | ENSRNOG00000025310 |
| drosophila_melanogaster | Rpp20 | FBGN0066304 |
| caenorhabditis_elegans | WBGENE00302968 |
Protein
Protein identifiers
Ribonuclease P protein subunit p20 — O75817 (reviewed: O75817)
Alternative names: Ribonucleases P/MRP protein subunit POP7 homolog
All UniProt accessions (2): O75817, C9JYM0
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. Also a component of the MRP ribonuclease complex, which cleaves pre-rRNA sequences.
Subunit / interactions. Component of nuclear RNase P and RNase MRP complexes. 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. Interacts with SMN1. POP7 forms a heterodimer with RPP25 that binds to the P3 stem loop of the catalytic RNA.
Subcellular location. Nucleus. Nucleolus. Cytoplasm. Cytoplasmic granule.
Similarity. Belongs to the histone-like Alba family.
RefSeq proteins (1): NP_005828* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR014612 | Pop7/Rpp20 | Family |
| IPR036882 | Alba-like_dom_sf | Homologous_superfamily |
Pfam: PF12328
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 (13 total): strand 6, helix 3, chain 1, mutagenesis site 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6CWX | X-RAY DIFFRACTION | 2.25 |
| 6LT7 | X-RAY DIFFRACTION | 2.7 |
| 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-O75817-F1 | 83.21 | 0.53 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 40 | strongly reduced interaction with rpp25. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6784531 | tRNA processing in the nucleus |
MSigDB gene sets: 164 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, TGCGCANK_UNKNOWN, GOMF_NUCLEASE_ACTIVITY, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_TRNA_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, WEI_MYCN_TARGETS_WITH_E_BOX, MUELLER_PLURINET, GOMF_RNA_ENDONUCLEASE_ACTIVITY, JAZAG_TGFB1_SIGNALING_VIA_SMAD4_UP, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, MODULE_98, FISCHER_DREAM_TARGETS
GO Biological Process (4): tRNA 5’-leader removal (GO:0001682), rRNA processing (GO:0006364), tRNA processing (GO:0008033), RNA processing (GO:0006396)
GO Molecular Function (5): RNA binding (GO:0003723), ribonuclease P RNA binding (GO:0033204), nucleic acid binding (GO:0003676), ribonuclease P activity (GO:0004526), protein binding (GO:0005515)
GO Cellular Component (7): ribonuclease MRP complex (GO:0000172), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolar ribonuclease P complex (GO:0005655), nucleolus (GO:0005730), cytoplasm (GO:0005737), multimeric ribonuclease P complex (GO:0030681)
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 |
| binding | 2 |
| nuclear lumen | 2 |
| cellular anatomical structure | 2 |
| tRNA 5’-end processing | 1 |
| rRNA metabolic process | 1 |
| ribosome biogenesis | 1 |
| tRNA metabolic process | 1 |
| gene expression | 1 |
| RNA biosynthetic process | 1 |
| primary metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| tRNA-specific ribonuclease activity | 1 |
| RNA endonuclease activity producing 5’-phosphomonoesters, hydrolytic mechanism | 1 |
| sno(s)RNA-containing ribonucleoprotein complex | 1 |
| endoribonuclease complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| nucleolus | 1 |
| multimeric ribonuclease P complex | 1 |
| nuclear protein-containing complex | 1 |
| intracellular membraneless organelle | 1 |
| intracellular anatomical structure | 1 |
| ribonuclease P complex | 1 |
Protein interactions and networks
STRING
608 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POP7 | POP5 | Q969H6 | 891 |
| POP7 | RPP25 | Q9BUL9 | 773 |
| POP7 | POP4 | O95707 | 769 |
| POP7 | RPLP1 | P05386 | 660 |
| POP7 | RPP38 | P78345 | 582 |
| POP7 | RPP30 | P78346 | 582 |
| POP7 | PTER | Q96BW5 | 557 |
| POP7 | RPP40 | O75818 | 447 |
| POP7 | TERT | O14746 | 434 |
| POP7 | RPP25L | Q8N5L8 | 432 |
| POP7 | DCLRE1A | Q6PJP8 | 431 |
| POP7 | POP1 | Q99575 | 430 |
| POP7 | LTN1 | O94822 | 406 |
| POP7 | PRORP | O15091 | 394 |
| POP7 | NAA40 | Q86UY6 | 357 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPP25L | POP7 | psi-mi:“MI:0915”(physical association) | 0.870 |
| POP7 | RPP25L | psi-mi:“MI:0915”(physical association) | 0.870 |
| POP7 | RPP25 | psi-mi:“MI:0915”(physical association) | 0.810 |
| RPP25 | POP7 | psi-mi:“MI:0914”(association) | 0.810 |
| POP7 | LAGE3 | psi-mi:“MI:0915”(physical association) | 0.740 |
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| RPP30 | POP7 | psi-mi:“MI:0914”(association) | 0.730 |
| C18orf21 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| POP4 | POP7 | psi-mi:“MI:0914”(association) | 0.640 |
| POP7 | SMN1 | psi-mi:“MI:0407”(direct interaction) | 0.570 |
| SMN1 | POP7 | psi-mi:“MI:0915”(physical association) | 0.570 |
| POP7 | SMN1 | psi-mi:“MI:0403”(colocalization) | 0.570 |
| C9orf72 | POP7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POP7 | C9orf72 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RRP8 | NVL | psi-mi:“MI:0914”(association) | 0.530 |
| POP4 | NME2P1 | psi-mi:“MI:0914”(association) | 0.530 |
| RPP21 | POP7 | psi-mi:“MI:0914”(association) | 0.530 |
| KLHDC3 | DPYSL4 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (110): RPP25L (Two-hybrid), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS), POP7 (Affinity Capture-MS)
ESM2 similar proteins: A0JNQ6, A2RT67, A2RUS2, A6NC42, A6NGQ2, A9X185, O75031, O75817, O94955, O95267, P50747, Q06VW1, Q0II25, Q0ZFW8, Q1RMS8, Q1RMZ1, Q29108, Q2TBA3, Q3T0J1, Q3TYS2, Q4VX76, Q568D5, Q568M3, Q587J7, Q5JSQ8, Q5T9G4, Q5ZLS2, Q62522, Q69ZK0, Q6AYA6, Q6P5G6, Q7Z7H3, Q80X86, Q86WV5, Q8BXK4, Q8C0Q9, Q8CHQ0, Q8TCU6, Q8WUE5, Q91Z62
Diamond homologs: O75817, Q0II25, Q2MGL3, Q9DCH2
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| POP7 | “form complex” | “Ribonuclease MRP complex” | binding |
| POP7 | “form complex” | “Nucleolar ribonuclease P complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 58 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 | 7 | 59.5× | 4e-09 |
| rRNA processing in the nucleus and cytosol | 8 | 30.6× | 2e-08 |
| tRNA processing in the nucleus | 6 | 28.1× | 3e-06 |
| rRNA processing | 8 | 27.9× | 3e-08 |
| Major pathway of rRNA processing in the nucleolus and cytosol | 10 | 14.7× | 6e-08 |
| Metabolism of RNA | 11 | 10.9× | 1e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| ribosomal small subunit biogenesis | 5 | 22.3× | 3e-04 |
| rRNA processing | 8 | 22.2× | 5e-07 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 22 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
304 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:100706301:GAGA:G | donor_gain | 1.0000 |
| 7:100706303:GA:G | donor_gain | 1.0000 |
| 7:100706305:G:GG | donor_gain | 1.0000 |
| 7:100706815:C:CA | acceptor_gain | 0.9900 |
| 7:100706819:AG:A | acceptor_gain | 0.9900 |
| 7:100706820:GG:G | acceptor_gain | 0.9900 |
| 7:100706302:A:T | donor_gain | 0.9800 |
| 7:100706818:CAGG:C | acceptor_loss | 0.9800 |
| 7:100706819:A:AG | acceptor_gain | 0.9800 |
| 7:100706819:A:C | acceptor_loss | 0.9800 |
| 7:100706819:AGG:A | acceptor_gain | 0.9800 |
| 7:100706820:G:A | acceptor_loss | 0.9800 |
| 7:100706820:G:GG | acceptor_gain | 0.9800 |
| 7:100706820:GGG:G | acceptor_gain | 0.9800 |
| 7:100706814:AC:A | acceptor_gain | 0.9700 |
| 7:100706300:AGAGA:A | donor_gain | 0.9600 |
| 7:100706301:GAGAG:G | donor_gain | 0.9600 |
| 7:100706820:GGGC:G | acceptor_gain | 0.9600 |
| 7:100706302:AGAG:A | donor_loss | 0.9500 |
| 7:100706304:AG:A | donor_loss | 0.9500 |
| 7:100706305:G:T | donor_loss | 0.9500 |
| 7:100706306:TAA:T | donor_loss | 0.9500 |
| 7:100706820:GGGCA:G | acceptor_gain | 0.9500 |
| 7:100706307:AA:A | donor_loss | 0.9400 |
| 7:100706818:CAGGG:C | acceptor_gain | 0.9400 |
| 7:100706302:AGA:A | donor_gain | 0.9300 |
| 7:100706303:GAG:G | donor_gain | 0.9300 |
| 7:100706314:G:GT | donor_gain | 0.9000 |
| 7:100706080:G:GT | donor_gain | 0.8900 |
| 7:100706308:AGC:A | donor_loss | 0.8900 |
AlphaMissense
896 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:100706946:T:A | V39D | 1.000 |
| 7:100707053:G:C | G75R | 1.000 |
| 7:100707054:G:A | G75D | 1.000 |
| 7:100707054:G:T | G75V | 1.000 |
| 7:100707084:C:A | A85E | 1.000 |
| 7:100707219:T:A | I130N | 1.000 |
| 7:100706942:T:G | Y38D | 0.999 |
| 7:100706984:T:C | C52R | 0.999 |
| 7:100706985:G:A | C52Y | 0.999 |
| 7:100706986:C:G | C52W | 0.999 |
| 7:100707042:T:A | I71N | 0.999 |
| 7:100707044:C:G | H72D | 0.999 |
| 7:100707046:C:A | H72Q | 0.999 |
| 7:100707046:C:G | H72Q | 0.999 |
| 7:100707047:G:C | G73R | 0.999 |
| 7:100707048:G:A | G73D | 0.999 |
| 7:100707053:G:A | G75S | 0.999 |
| 7:100707053:G:T | G75C | 0.999 |
| 7:100707054:G:C | G75A | 0.999 |
| 7:100707060:C:A | A77D | 0.999 |
| 7:100707071:G:C | A81P | 0.999 |
| 7:100707072:C:A | A81D | 0.999 |
| 7:100707075:T:A | I82N | 0.999 |
| 7:100707087:T:C | L86P | 0.999 |
| 7:100707093:T:C | L88P | 0.999 |
| 7:100707129:C:A | A100D | 0.999 |
| 7:100707135:C:T | T102I | 0.999 |
| 7:100707137:T:C | S103P | 0.999 |
| 7:100707141:C:T | T104I | 0.999 |
| 7:100707203:C:A | R125S | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000347074 (7:100705247 C>T), RS1001309383 (7:100707254 T>A,C), RS1002349287 (7:100707441 G>A,T), RS1003357921 (7:100705226 T>G), RS1003426310 (7:100704956 G>A), RS1004713085 (7:100705525 A>G), RS1004998680 (7:100705945 T>C,G), RS1005331682 (7:100705275 G>A), RS1006323945 (7:100706718 G>A,C), RS1006355307 (7:100706389 A>C), RS1006687815 (7:100707935 C>T), RS1006890275 (7:100704262 G>A), RS1007937432 (7:100706550 C>T), RS1008972211 (7:100705299 C>A), RS1008994357 (7:100705873 C>A,T)
Disease associations
OMIM: gene MIM:606113 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
13 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004601_101 | Red blood cell count | 3.000000e-38 |
| GCST004615_50 | Hemoglobin concentration | 3.000000e-14 |
| GCST005028_7 | Pursuit maintenance gain in psychotic disorders | 1.000000e-08 |
| GCST007201_348 | Schizophrenia | 3.000000e-06 |
| GCST007201_74 | Schizophrenia | 1.000000e-07 |
| GCST007932_103 | Medication use (thyroid preparations) | 1.000000e-08 |
| GCST010204_198 | Low density lipoprotein cholesterol levels | 2.000000e-17 |
| GCST90002383_432 | Hematocrit | 8.000000e-10 |
| GCST90002383_433 | Hematocrit | 3.000000e-102 |
| GCST90002384_152 | Hemoglobin | 3.000000e-29 |
| GCST90002384_157 | Hemoglobin | 4.000000e-09 |
| GCST90002384_158 | Hemoglobin | 9.000000e-105 |
| GCST90002403_585 | Red blood cell count | 9.000000e-85 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004305 | erythrocyte count |
| EFO:0004509 | hemoglobin measurement |
| EFO:0008433 | pursuit maintenance gain measurement |
| EFO:0009933 | Thyroid preparation use measurement |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
| EFO:0004348 | hematocrit |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| bisphenol A | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| cobaltous chloride | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| K 7174 | decreases expression | 1 |
| ICG 001 | affects expression | 1 |
| Leflunomide | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Copper | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
| Piroxicam | decreases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Smoke | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Asbestos, Crocidolite | increases expression | 1 |
| Thapsigargin | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Vitamin K 3 | affects expression | 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.