POLR1F
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Also known as RPA43A43
Summary
POLR1F (RNA polymerase I subunit F, HGNC:18027) is a protein-coding gene on chromosome 7p21.1, encoding DNA-directed RNA polymerase I subunit RPA43 (Q3B726). Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. It is a common-essential gene (DepMap: required in 99.7% of cancer cell lines).
Predicted to be involved in transcription elongation by RNA polymerase I. Predicted to act upstream of or within cellular response to leukemia inhibitory factor. Part of RNA polymerase I complex.
Source: NCBI Gene 221830 — RefSeq curated summary.
At a glance
- GWAS associations: 16
- Clinical variants (ClinVar): 56 total
- Cancer dependency (DepMap): dependent in 99.7% of screened cell lines (common-essential)
- MANE Select transcript:
NM_001002926
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18027 |
| Approved symbol | POLR1F |
| Name | RNA polymerase I subunit F |
| Location | 7p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | RPA43, A43 |
| Ensembl gene | ENSG00000105849 |
| Ensembl biotype | protein_coding |
| OMIM | 608312 |
| Entrez | 221830 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron
ENST00000222567, ENST00000462263, ENST00000944637
RefSeq mRNA: 1 — MANE Select: NM_001002926
NM_001002926
CCDS: CCDS34606
Canonical transcript exons
ENST00000222567 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000672579 | 19700072 | 19700280 |
| ENSE00000672580 | 19704779 | 19704920 |
| ENSE00001141260 | 19708763 | 19709037 |
| ENSE00001224707 | 19695461 | 19698727 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 92.89.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.5170 / max 177.8033, expressed in 1806 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 82957 | 23.7041 | 1805 |
| 82956 | 0.6796 | 217 |
| 82955 | 0.1334 | 50 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| decidua | UBERON:0002450 | 92.89 | gold quality |
| calcaneal tendon | UBERON:0003701 | 90.95 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.50 | gold quality |
| secondary oocyte | CL:0000655 | 89.02 | gold quality |
| adrenal tissue | UBERON:0018303 | 86.64 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.33 | gold quality |
| endometrium | UBERON:0001295 | 86.13 | gold quality |
| stromal cell of endometrium | CL:0002255 | 85.44 | gold quality |
| oocyte | CL:0000023 | 84.05 | gold quality |
| cauda epididymis | UBERON:0004360 | 83.60 | gold quality |
| sural nerve | UBERON:0015488 | 83.13 | gold quality |
| islet of Langerhans | UBERON:0000006 | 82.84 | gold quality |
| endometrium epithelium | UBERON:0004811 | 82.15 | gold quality |
| monocyte | CL:0000576 | 81.26 | gold quality |
| mononuclear cell | CL:0000842 | 80.98 | gold quality |
| leukocyte | CL:0000738 | 80.79 | gold quality |
| seminal vesicle | UBERON:0000998 | 80.62 | gold quality |
| rectum | UBERON:0001052 | 80.58 | gold quality |
| popliteal artery | UBERON:0002250 | 80.49 | gold quality |
| tibial artery | UBERON:0007610 | 80.48 | gold quality |
| tendon | UBERON:0000043 | 80.17 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 80.13 | gold quality |
| left uterine tube | UBERON:0001303 | 79.97 | gold quality |
| uterus | UBERON:0000995 | 79.65 | gold quality |
| gastrocnemius | UBERON:0001388 | 79.59 | gold quality |
| muscle of leg | UBERON:0001383 | 79.52 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 79.39 | gold quality |
| endothelial cell | CL:0000115 | 79.35 | silver quality |
| oral cavity | UBERON:0000167 | 79.34 | gold quality |
| aorta | UBERON:0000947 | 79.24 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): EHMT2, GATA3, MTA3
miRNA regulators (miRDB)
115 targeting POLR1F, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-128-3P | 99.95 | 71.17 | 2484 |
| HSA-MIR-216A-3P | 99.95 | 71.19 | 2505 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 99.7% of screened cell lines, common-essential.
Literature-anchored findings (GeneRIF, showing 1)
- describe the localisation and characterisation of the TWIST NEIGHBOR (TWISTNB) gene (PMID:12438708)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | polr1f | ENSDARG00000024416 |
| mus_musculus | Polr1f | ENSMUSG00000020561 |
| rattus_norvegicus | Polr1f | ENSRNOG00000010750 |
Paralogs (2): POLR3H (ENSG00000100413), POLR2G (ENSG00000168002)
Protein
Protein identifiers
DNA-directed RNA polymerase I subunit RPA43 — Q3B726 (reviewed: Q3B726)
Alternative names: DNA-directed RNA polymerase I subunit F, Twist neighbor protein
All UniProt accessions (1): Q3B726
UniProt curated annotations — full annotation on UniProt →
Function. Component of RNA polymerase I (Pol I), a DNA-dependent RNA polymerase which synthesizes ribosomal RNA precursors using the four ribonucleoside triphosphates as substrates. Through its association with RRN3/TIF-IA may be involved in recruitment of Pol I to rDNA promoters.
Subunit / interactions. Component of the RNA polymerase I (Pol I) complex consisting of 13 subunits: a ten-subunit catalytic core composed of POLR1A/RPA1, POLR1B/RPA2, POLR1C/RPAC1, POLR1D/RPAC2, POLR1H/RPA12, POLR2E/RPABC1, POLR2F/RPABC2, POLR2H/RPABC3, POLR2K/RPABC4 and POLR2L/RPABC5; a mobile stalk subunit POLR1F/RPA43 protruding from the core and additional subunits homologous to general transcription factors POLR1E/RPA49 and POLR1G/RPA34. Interacts with RRN3/TIF-IA.
Subcellular location. Nucleus. Nucleolus.
Tissue specificity. Widely expressed. Expressed in all fetal and adult tissues tested, with highest expression in fetal lung, liver, and kidney, and low expression in all adult tissues.
Similarity. Belongs to the eukaryotic RPA43 RNA polymerase subunit family.
RefSeq proteins (1): NP_001002926* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005576 | Rpb7-like_N | Domain |
| IPR036898 | RNA_pol_Rpb7-like_N_sf | Homologous_superfamily |
| IPR041178 | RPA43_OB | Domain |
| IPR041901 | RNAP_I_Rpa43_N | Domain |
| IPR045113 | Rpb7-like | Family |
Pfam: PF03876, PF17875
UniProt features (27 total): strand 14, modified residue 5, helix 3, turn 2, chain 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
6 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7OB9 | ELECTRON MICROSCOPY | 2.7 |
| 7VBB | ELECTRON MICROSCOPY | 2.81 |
| 7VBA | ELECTRON MICROSCOPY | 2.89 |
| 7VBC | ELECTRON MICROSCOPY | 3.01 |
| 7OBA | ELECTRON MICROSCOPY | 3.1 |
| 7OBB | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3B726-F1 | 68.22 | 0.44 |
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 (5): 242, 304, 316, 322, 328
Function
Pathways and Gene Ontology
Reactome pathways
11 pathways
| ID | Pathway |
|---|---|
| R-HSA-427413 | NoRC negatively regulates rRNA expression |
| R-HSA-5250924 | B-WICH complex positively regulates rRNA expression |
| R-HSA-73762 | RNA Polymerase I Transcription Initiation |
| R-HSA-73772 | RNA Polymerase I Promoter Escape |
| R-HSA-73863 | RNA Polymerase I Transcription Termination |
| R-HSA-212165 | Epigenetic regulation of gene expression |
| R-HSA-5250913 | Positive epigenetic regulation of rRNA expression |
| R-HSA-5250941 | Negative epigenetic regulation of rRNA expression |
| R-HSA-73854 | RNA Polymerase I Promoter Clearance |
| R-HSA-73864 | RNA Polymerase I Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
MSigDB gene sets: 175 (showing top):
BROWNE_HCMV_INFECTION_30MIN_DN, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, HORIUCHI_WTAP_TARGETS_DN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, GOBP_RESPONSE_TO_PEPTIDE, REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, GOBP_RRNA_TRANSCRIPTION, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GARY_CD5_TARGETS_DN, DEBIASI_APOPTOSIS_BY_REOVIRUS_INFECTION_UP, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, GOCC_RNA_POLYMERASE_COMPLEX, FISCHER_DREAM_TARGETS
GO Biological Process (4): DNA-templated transcription initiation (GO:0006352), transcription elongation by RNA polymerase I (GO:0006362), cellular response to leukemia inhibitory factor (GO:1990830), DNA-templated transcription (GO:0006351)
GO Molecular Function (0):
GO Cellular Component (5): nucleoplasm (GO:0005654), RNA polymerase I complex (GO:0005736), DNA-directed RNA polymerase complex (GO:0000428), nucleus (GO:0005634), nucleolus (GO:0005730)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| RNA Polymerase I Promoter Clearance | 2 |
| RNA Polymerase I Transcription | 2 |
| Gene expression (Transcription) | 2 |
| Epigenetic regulation of gene expression | 2 |
| Negative epigenetic regulation of rRNA expression | 1 |
| Positive epigenetic regulation of rRNA expression | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| RNA biosynthetic process | 2 |
| nuclear lumen | 2 |
| DNA-templated transcription | 1 |
| DNA-templated transcription elongation | 1 |
| transcription by RNA polymerase I | 1 |
| cellular response to cytokine stimulus | 1 |
| response to leukemia inhibitory factor | 1 |
| gene expression | 1 |
| cellular anatomical structure | 1 |
| DNA-directed RNA polymerase complex | 1 |
| nucleolus | 1 |
| nuclear protein-containing complex | 1 |
| RNA polymerase complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1824 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| POLR1F | RPA3 | P35244 | 911 |
| POLR1F | POLR1B | Q9H9Y6 | 818 |
| POLR1F | POLR1C | O15160 | 817 |
| POLR1F | POLR1H | Q9P1U0 | 817 |
| POLR1F | RRN3 | Q9NYV6 | 807 |
| POLR1F | DUSP16 | Q9BY84 | 793 |
| POLR1F | IP6K2 | Q9UHH9 | 773 |
| POLR1F | EXT2 | Q93063 | 748 |
| POLR1F | POLR2D | O15514 | 734 |
| POLR1F | POLR1A | O95602 | 726 |
| POLR1F | POLR1E | Q9GZS1 | 710 |
| POLR1F | POLR2L | P52436 | 665 |
| POLR1F | POLI | Q9UNA4 | 658 |
| POLR1F | POLR2G | P52433 | 649 |
| POLR1F | POLR2E | P19388 | 647 |
IntAct
35 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| POLR1E | POLR1C | psi-mi:“MI:0914”(association) | 0.670 |
| POLR2L | RCCD1 | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2F | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| POLR1F | POLR1A | psi-mi:“MI:0914”(association) | 0.640 |
| POLR2L | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| YWHAH | BLTP3B | psi-mi:“MI:2364”(proximity) | 0.570 |
| POLR1C | POLR3A | psi-mi:“MI:0914”(association) | 0.530 |
| CFTR | POLR1F | psi-mi:“MI:0915”(physical association) | 0.370 |
| POLR1F | PPP1CC | psi-mi:“MI:0915”(physical association) | 0.370 |
| RSRP1 | DMWD | psi-mi:“MI:0914”(association) | 0.350 |
| TGM2 | SRGAP3 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1A | POLR2H | psi-mi:“MI:0914”(association) | 0.350 |
| ARRB2 | psi-mi:“MI:0914”(association) | 0.350 | |
| MKI67 | ARHGAP10 | psi-mi:“MI:0914”(association) | 0.350 |
| ESR1 | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1F | POLR1C | psi-mi:“MI:0914”(association) | 0.350 |
| TGM5 | EIF4E2 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC13A2 | SEC24D | psi-mi:“MI:0914”(association) | 0.350 |
| NOLC1 | HOXB9 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF23 | POLR1F | psi-mi:“MI:0914”(association) | 0.350 |
| TAF1D | psi-mi:“MI:0914”(association) | 0.350 | |
| POLR1C | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1D | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR2E | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR2K | BDP1 | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1F | POLR2E | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1D | POLR3A | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1H | POLR1C | psi-mi:“MI:0914”(association) | 0.350 |
| POLR1D | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (83): POLR1B (Affinity Capture-MS), POLR1A (Affinity Capture-MS), RRN3 (Affinity Capture-MS), POLR1D (Affinity Capture-MS), TWISTNB (Affinity Capture-MS), TWISTNB (Affinity Capture-MS), POLR1D (Co-fractionation), TWISTNB (Co-fractionation), TWISTNB (Co-fractionation), TWISTNB (Co-fractionation), TWISTNB (Proximity Label-MS), TWISTNB (Proximity Label-MS), TWISTNB (Affinity Capture-MS), TWISTNB (Affinity Capture-MS), TWISTNB (Affinity Capture-MS)
ESM2 similar proteins: A2A5N8, B2KF05, D3YWQ0, D3ZWK4, E1C2V1, E9Q3C1, F1MAB7, G5E8P1, O43683, O70445, O75164, O75912, O94953, O95696, P0C6P5, P97433, Q08AE8, Q08EN7, Q2KI23, Q3B726, Q3UIR3, Q5RD88, Q5TKR9, Q5U3H9, Q6DJS0, Q6DTM3, Q6P5D3, Q6PDI6, Q6PHG8, Q6ZUJ8, Q71M44, Q78WZ7, Q80U38, Q8BMD7, Q8BRB7, Q8BW72, Q8BZ21, Q8K3E5, Q8K3Y6, Q8NBR6
Diamond homologs: Q3B726, Q6PHG8, Q78WZ7
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| POLR1F | “form complex” | “RNA Polymerase I” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 40 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 |
|---|---|---|---|
| RNA Polymerase III Chain Elongation | 8 | 158.6× | 1e-15 |
| Positive epigenetic regulation of rRNA expression | 12 | 129.8× | 6e-22 |
| RNA Polymerase III Transcription Termination | 8 | 124.1× | 1e-14 |
| RNA Polymerase I Transcription Termination | 12 | 122.4× | 9e-22 |
| RNA Polymerase I Promoter Clearance | 13 | 119.0× | 6e-23 |
| RNA Polymerase III Transcription Initiation From Type 2 Promoter | 9 | 119.0× | 4e-16 |
| FGFR2 mutant receptor activation | 5 | 119.0× | 4e-09 |
| RNA Polymerase I Transcription | 13 | 116.0× | 6e-23 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| transcription by RNA polymerase II | 6 | 10.8× | 9e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
56 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 49 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
555 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:19698723:GTAAA:G | acceptor_gain | 1.0000 |
| 7:19698724:TAAA:T | acceptor_gain | 1.0000 |
| 7:19698725:AAA:A | acceptor_gain | 1.0000 |
| 7:19698726:AA:A | acceptor_gain | 1.0000 |
| 7:19698728:C:CC | acceptor_gain | 1.0000 |
| 7:19698730:A:C | acceptor_gain | 1.0000 |
| 7:19698735:T:TC | acceptor_gain | 1.0000 |
| 7:19698740:A:T | acceptor_gain | 1.0000 |
| 7:19700279:CC:C | acceptor_gain | 1.0000 |
| 7:19700280:CC:C | acceptor_gain | 1.0000 |
| 7:19701107:T:TA | donor_gain | 1.0000 |
| 7:19701108:C:A | donor_gain | 1.0000 |
| 7:19701113:T:C | donor_gain | 1.0000 |
| 7:19704774:CATA:C | donor_loss | 1.0000 |
| 7:19704775:ATACC:A | donor_loss | 1.0000 |
| 7:19704776:TACCA:T | donor_loss | 1.0000 |
| 7:19704777:A:AC | donor_gain | 1.0000 |
| 7:19704777:ACCA:A | donor_loss | 1.0000 |
| 7:19704778:C:CC | donor_gain | 1.0000 |
| 7:19704778:C:T | donor_loss | 1.0000 |
| 7:19698730:A:AC | acceptor_gain | 0.9900 |
| 7:19698735:T:C | acceptor_gain | 0.9900 |
| 7:19698739:CAGT:C | acceptor_gain | 0.9900 |
| 7:19698742:T:C | acceptor_gain | 0.9900 |
| 7:19698742:T:TC | acceptor_gain | 0.9900 |
| 7:19700281:C:CC | acceptor_gain | 0.9900 |
| 7:19700281:C:T | acceptor_gain | 0.9900 |
| 7:19704919:GG:G | acceptor_gain | 0.9900 |
| 7:19704921:C:CC | acceptor_gain | 0.9900 |
| 7:19708757:CGGTA:C | donor_loss | 0.9900 |
AlphaMissense
2234 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:19700219:G:T | A153D | 0.999 |
| 7:19700224:G:C | F151L | 0.999 |
| 7:19700224:G:T | F151L | 0.999 |
| 7:19700225:A:G | F151S | 0.999 |
| 7:19700226:A:G | F151L | 0.999 |
| 7:19700244:A:G | C145R | 0.999 |
| 7:19700273:A:T | V135D | 0.999 |
| 7:19704898:A:C | Y93D | 0.999 |
| 7:19700096:A:T | I194N | 0.998 |
| 7:19700141:A:G | F179S | 0.998 |
| 7:19700221:A:C | N152K | 0.998 |
| 7:19700221:A:T | N152K | 0.998 |
| 7:19700279:C:T | G133D | 0.998 |
| 7:19700280:C:G | G133R | 0.998 |
| 7:19704806:G:C | F123L | 0.998 |
| 7:19704806:G:T | F123L | 0.998 |
| 7:19704807:A:G | F123S | 0.998 |
| 7:19704808:A:G | F123L | 0.998 |
| 7:19704813:A:T | V121D | 0.998 |
| 7:19704823:C:G | A118P | 0.998 |
| 7:19704901:C:G | A92P | 0.998 |
| 7:19704906:G:T | P90H | 0.998 |
| 7:19700090:C:T | G196E | 0.997 |
| 7:19700091:C:G | G196R | 0.997 |
| 7:19700091:C:T | G196R | 0.997 |
| 7:19700096:A:G | I194T | 0.997 |
| 7:19700242:A:C | C145W | 0.997 |
| 7:19700246:C:T | G144D | 0.997 |
| 7:19700253:G:C | H142D | 0.997 |
| 7:19704783:A:G | L131P | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000016705 (7:19707881 C>G), RS1000137496 (7:19707135 C>T), RS1000270993 (7:19702452 C>G), RS1000315854 (7:19701510 G>T), RS1000347176 (7:19696054 A>G), RS1000399839 (7:19696480 T>A,G), RS1000411297 (7:19696755 G>A), RS1000527783 (7:19708095 A>T), RS1000862720 (7:19696437 A>G), RS1000884182 (7:19696065 G>A), RS1001114367 (7:19702352 A>G), RS1001419417 (7:19695322 A>AT,ATT), RS1002028532 (7:19707955 G>A), RS1002091341 (7:19706765 A>G), RS1002204584 (7:19702248 T>C)
Disease associations
OMIM: gene MIM:608312 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
16 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000817_42 | Height | 9.000000e-10 |
| GCST002633_1 | Intracranial aneurysm | 2.000000e-06 |
| GCST002633_2 | Intracranial aneurysm | 5.000000e-06 |
| GCST002633_3 | Intracranial aneurysm | 1.000000e-09 |
| GCST002702_123 | Height | 2.000000e-09 |
| GCST003542_47 | Night sleep phenotypes | 6.000000e-06 |
| GCST005023_17 | Initial pursuit acceleration | 6.000000e-06 |
| GCST006979_330 | Heel bone mineral density | 1.000000e-14 |
| GCST007578_5 | Plasma homocysteine levels | 4.000000e-09 |
| GCST008839_229 | Height | 6.000000e-10 |
| GCST008839_48 | Height | 3.000000e-15 |
| GCST008839_599 | Height | 7.000000e-20 |
| GCST009391_1651 | Metabolite levels | 8.000000e-07 |
| GCST009723_69 | Vertical cup-disc ratio (adjusted for vertical disc diameter) | 8.000000e-10 |
| GCST009724_9 | Vertical cup-disc ratio (multi-trait analysis) | 2.000000e-09 |
| GCST010002_345 | Refractive error | 2.000000e-09 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008434 | initial pursuit acceleration |
| EFO:0009270 | heel bone mineral density |
| EFO:0004578 | homocysteine measurement |
| EFO:0010469 | carnitine measurement |
| EFO:0006939 | cup-to-disc ratio measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, affects methylation, affects cotreatment | 2 |
| Valproic Acid | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| coumarin | increases phosphorylation | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic | increases expression, affects cotreatment, increases abundance | 1 |
| Caffeine | decreases phosphorylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Manganese | affects cotreatment, increases abundance, increases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Quercetin | increases phosphorylation | 1 |
| Smoke | decreases expression | 1 |
| Dronabinol | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Aflatoxin M1 | decreases expression | 1 |
| Sodium Selenite | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Lactic Acid | increases expression | 1 |
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): brain aneurysm