PAPOLG
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Also known as FLJ12972
Summary
PAPOLG (poly(A) polymerase gamma, HGNC:14982) is a protein-coding gene on chromosome 2p16.1, encoding Poly(A) polymerase gamma (Q9BWT3). Responsible for the post-transcriptional adenylation of the 3’-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA.
This gene encodes a member of the poly(A) polymerase family which catalyzes template-independent extension of the 3’ end of a DNA/RNA strand. This enzyme shares 60% identity to the well characterized poly(A) polymerase II (PAPII) at the amino acid level. These two enzymes have similar organization of structural and functional domains. This enzyme is exclusively localized in the nucleus and exhibits both nonspecific and CPSF (cleavage and polyadenylation specificity factor)/AAUAAA-dependent polyadenylation activity. This gene is located on chromosome 2 in contrast to the PAPII gene, which is located on chromosome 14.
Source: NCBI Gene 64895 — RefSeq curated summary.
At a glance
- GWAS associations: 10
- Clinical variants (ClinVar): 103 total
- MANE Select transcript:
NM_022894
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14982 |
| Approved symbol | PAPOLG |
| Name | poly(A) polymerase gamma |
| Location | 2p16.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12972 |
| Ensembl gene | ENSG00000115421 |
| Ensembl biotype | protein_coding |
| OMIM | 616865 |
| Entrez | 64895 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 8 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000238714, ENST00000412217, ENST00000414060, ENST00000453839, ENST00000470208, ENST00000483370, ENST00000496283, ENST00000884003, ENST00000884004, ENST00000884005, ENST00000884006, ENST00000971331, ENST00000971332
RefSeq mRNA: 1 — MANE Select: NM_022894
NM_022894
CCDS: CCDS1863
Canonical transcript exons
ENST00000238714 — 22 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001858029 | 60797062 | 60802086 |
| ENSE00001931590 | 60756268 | 60756495 |
| ENSE00002525650 | 60771519 | 60771630 |
| ENSE00003465416 | 60779637 | 60779775 |
| ENSE00003479201 | 60794964 | 60795020 |
| ENSE00003490183 | 60791761 | 60791882 |
| ENSE00003493709 | 60770458 | 60770511 |
| ENSE00003514443 | 60780707 | 60780779 |
| ENSE00003527391 | 60760134 | 60760295 |
| ENSE00003531792 | 60768470 | 60768551 |
| ENSE00003569543 | 60794710 | 60794775 |
| ENSE00003576372 | 60783156 | 60783209 |
| ENSE00003578351 | 60792129 | 60792289 |
| ENSE00003579293 | 60793627 | 60793715 |
| ENSE00003584355 | 60781885 | 60782005 |
| ENSE00003592759 | 60787511 | 60787620 |
| ENSE00003597874 | 60793971 | 60794191 |
| ENSE00003616747 | 60768781 | 60768890 |
| ENSE00003645315 | 60786947 | 60787066 |
| ENSE00003650094 | 60775034 | 60775123 |
| ENSE00003667352 | 60761741 | 60761807 |
| ENSE00003692485 | 60782686 | 60782770 |
Expression profiles
Bgee: expression breadth ubiquitous, 274 present calls, max score 91.08.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.9698 / max 497.7461, expressed in 1806 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 20444 | 17.7386 | 1804 |
| 20446 | 2.2008 | 811 |
| 20445 | 1.0304 | 549 |
Top tissues by expression
287 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 91.08 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.18 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 87.52 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.95 | gold quality |
| cortical plate | UBERON:0005343 | 86.59 | gold quality |
| adrenal tissue | UBERON:0018303 | 85.52 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.20 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.15 | gold quality |
| ventricular zone | UBERON:0003053 | 83.66 | gold quality |
| primary visual cortex | UBERON:0002436 | 82.19 | gold quality |
| tibia | UBERON:0000979 | 82.07 | gold quality |
| thyroid gland | UBERON:0002046 | 81.96 | gold quality |
| secondary oocyte | CL:0000655 | 81.87 | gold quality |
| blood | UBERON:0000178 | 81.86 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 81.85 | gold quality |
| leukocyte | CL:0000738 | 81.61 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 81.61 | gold quality |
| monocyte | CL:0000576 | 81.44 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 81.44 | gold quality |
| calcaneal tendon | UBERON:0003701 | 81.42 | gold quality |
| mononuclear cell | CL:0000842 | 81.31 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 81.00 | gold quality |
| retina | UBERON:0000966 | 80.98 | gold quality |
| skin of hip | UBERON:0001554 | 80.79 | gold quality |
| colonic epithelium | UBERON:0000397 | 80.59 | gold quality |
| visceral pleura | UBERON:0002401 | 80.54 | gold quality |
| islet of Langerhans | UBERON:0000006 | 80.15 | gold quality |
| ovary | UBERON:0000992 | 79.89 | gold quality |
| gingival epithelium | UBERON:0001949 | 79.82 | gold quality |
| bone marrow cell | CL:0002092 | 79.26 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 4.89 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
279 targeting PAPOLG, 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-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-29A-3P | 100.00 | 73.11 | 1835 |
| HSA-MIR-29B-3P | 100.00 | 73.18 | 1833 |
| HSA-MIR-29C-3P | 100.00 | 73.15 | 1833 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| 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-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-4645-5P | 99.98 | 65.81 | 1284 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
Literature-anchored findings (GeneRIF, showing 4)
- Arg(232) substitutions have no effect on independent Pol gammaA activities but show major defects in the Pol gammaA-Pol gammaB holoenzyme. (PMID:20513922)
- An analysis of residue conservation reveals a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent. (PMID:24076191)
- PAP gamma structurally closely resembles its PAP alpha ortholog. It possesses a conserved catalytic binding pocket, whereas residues at the surface of the polymerase are more divergent. (PMID:24076191)
- PAPgamma associates with PAXT nuclear exosome to control the abundance of PROMPT ncRNAs. (PMID:37875486)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | papolg | ENSDARG00000012141 |
| mus_musculus | Papolg | ENSMUSG00000020273 |
| rattus_norvegicus | Papolg | ENSRNOG00000006261 |
Paralogs (2): PAPOLA (ENSG00000090060), PAPOLB (ENSG00000218823)
Protein
Protein identifiers
Poly(A) polymerase gamma — Q9BWT3 (reviewed: Q9BWT3)
Alternative names: Neo-poly(A) polymerase, Polynucleotide adenylyltransferase gamma, SRP RNA 3’-adenylating enzyme, Signal recognition particle RNA-adenylating enzyme
All UniProt accessions (4): A0A0C4DH56, Q9BWT3, F8WAT4, H7C3W0
UniProt curated annotations — full annotation on UniProt →
Function. Responsible for the post-transcriptional adenylation of the 3’-terminal of mRNA precursors and several small RNAs including signal recognition particle (SRP) RNA, nuclear 7SK RNA, U2 small nuclear RNA, and ribosomal 5S RNA.
Subcellular location. Nucleus.
Tissue specificity. Expressed predominantly in testis, and weakly in other tissues. Overexpressed in several tumors.
Cofactor. Binds 2 magnesium ions. Also active with manganese.
Similarity. Belongs to the poly(A) polymerase family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9BWT3-1 | 1 | yes |
| Q9BWT3-2 | 2 |
RefSeq proteins (1): NP_075045* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007010 | PolA_pol_RNA-bd_dom | Domain |
| IPR007012 | PolA_pol_cen_dom | Domain |
| IPR011068 | NuclTrfase_I-like_C | Homologous_superfamily |
| IPR043519 | NT_sf | Homologous_superfamily |
| IPR048840 | PolA_pol_NTPase | Domain |
Pfam: PF04926, PF04928, PF20750
Enzyme classification (BRENDA):
- EC 2.7.7.19 — polynucleotide adenylyltransferase (BRENDA: 35 organisms, 181 substrates, 125 inhibitors, 114 Km, 53 kcat entries)
Substrate kinetics (BRENDA)
19 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| ATP | 0.028–2.191 | 54 |
| RNA (A)15 | 0.51–24.99 | 23 |
| CTP | 0.1036–4.7 | 7 |
| (A)N | 0.0468–0.711 | 5 |
| OLIGO(A)14 | 0.0005–0.037 | 5 |
| (A)15 | 0.0009–0.0053 | 3 |
| GTP | 0.055–0.062 | 2 |
| OLIGO(A)18 | 0.0468–0.0642 | 2 |
| OLIGO(A)N | 0.01–0.3 | 2 |
| 2-AMINOPURINE RIBOSIDE TRIPHOSPHATE | 0.0197 | 1 |
| DATP | 0.06 | 1 |
| OLIGO(A)12 | 0.0004 | 1 |
| OLIGO(A)17C | 0.0263 | 1 |
| OLIGOADENYLATE | 0.2 | 1 |
| POLY(A)N | 0.0036 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- RNA(n) + ATP = RNA(n)-3’-adenine ribonucleotide + diphosphate (RHEA:11332)
UniProt features (73 total): helix 18, strand 13, binding site 12, modified residue 9, site 5, turn 5, compositionally biased region 4, sequence conflict 3, region of interest 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4LT6 | X-RAY DIFFRACTION | 2.79 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BWT3-F1 | 75.78 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (5): 152 (interaction with rna); 157 (interaction with rna); 327 (interaction with rna); 398 (interaction with rna); 532 (interaction with rna)
Ligand- & substrate-binding residues (12): 112; 112; 114; 114; 166; 166; 227; 236; 245–246; 99–101; 108; 112–114
Post-translational modifications (9): 2, 23, 29, 525, 599, 648, 654, 684, 708
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-9770562 | mRNA Polyadenylation |
| R-HSA-9930044 | Nuclear RNA decay |
MSigDB gene sets: 207 (showing top):
MYAATNNNNNNNGGC_UNKNOWN, E2F4DP1_01, CMYB_01, YGACNNYACAR_UNKNOWN, E2F_Q3, MCAATNNNNNGCG_UNKNOWN, REACTOME_MRNA_3_END_PROCESSING, REACTOME_PROCESSING_OF_CAPPED_INTRON_CONTAINING_PRE_MRNA, ACATATC_MIR190, CTTTGTA_MIR524, TGCCTTA_MIR124A, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, SHEN_SMARCA2_TARGETS_DN, REACTOME_METABOLISM_OF_RNA, GCCATNTTG_YY1_Q6
GO Biological Process (2): mRNA processing (GO:0006397), RNA 3’-end processing (GO:0031123)
GO Molecular Function (7): RNA binding (GO:0003723), ATP binding (GO:0005524), metal ion binding (GO:0046872), poly(A) RNA polymerase activity (GO:1990817), nucleotide binding (GO:0000166), transferase activity (GO:0016740), nucleotidyltransferase activity (GO:0016779)
GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), membrane (GO:0016020), nuclear body (GO:0016604)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| mRNA 3’-end processing | 1 |
| Metabolism of RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| RNA processing | 2 |
| mRNA metabolic process | 1 |
| nucleic acid binding | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| cation binding | 1 |
| adenylyltransferase activity | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| catalytic activity | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| nucleoplasm | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
1697 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PAPOLG | ZCCHC7 | Q8N3Z6 | 995 |
| PAPOLG | MTREX | P42285 | 994 |
| PAPOLG | SNRNP70 | P08621 | 985 |
| PAPOLG | SYMPK | Q92797 | 977 |
| PAPOLG | MTPAP | Q9NVV4 | 940 |
| PAPOLG | TUT1 | Q9H6E5 | 937 |
| PAPOLG | U2AF2 | P26368 | 920 |
| PAPOLG | PABPN1 | Q86U42 | 895 |
| PAPOLG | TUT4 | Q5TAX3 | 893 |
| PAPOLG | PARN | O95453 | 886 |
| PAPOLG | TENT2 | Q6PIY7 | 867 |
| PAPOLG | CPEB1 | Q9BZB8 | 861 |
| PAPOLG | CPSF3 | Q9UKF6 | 854 |
| PAPOLG | CPSF6 | Q16630 | 851 |
| PAPOLG | PCF11 | O94913 | 833 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RFXANK | RFXAP | psi-mi:“MI:0914”(association) | 0.780 |
| PAPOLG | ZFC3H1 | psi-mi:“MI:0914”(association) | 0.530 |
| ZNRD2 | MYO9A | psi-mi:“MI:0914”(association) | 0.530 |
| CPSF6 | DDX39A | psi-mi:“MI:0914”(association) | 0.480 |
| NFYA | PAPOLG | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCBD1 | PAPOLG | psi-mi:“MI:0915”(physical association) | 0.370 |
| LZTR1 | PAPOLG | psi-mi:“MI:0915”(physical association) | 0.370 |
| ZFC3H1 | UNC119B | psi-mi:“MI:0914”(association) | 0.350 |
| PB2 | SEC15L3 | psi-mi:“MI:0914”(association) | 0.350 |
| PRKY | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| BACE2 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
| HNRNPCL2 | SMCHD1 | psi-mi:“MI:0914”(association) | 0.350 |
| CCT8L2 | DVL2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBXN6 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO2A | psi-mi:“MI:0914”(association) | 0.350 | |
| DNAI2 | APAF1 | psi-mi:“MI:0914”(association) | 0.350 |
| INSR | RIMOC1 | psi-mi:“MI:0914”(association) | 0.350 |
| DCTN1 | NACA | psi-mi:“MI:2364”(proximity) | 0.270 |
| TLK2 | PES1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| TLK2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| BUD13 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| GPKOW | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| HNRNPC | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| SRSF7 | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| XRCC6 | PSMD11 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZC3H11A | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.270 |
| ZRANB2 | SBNO1 | psi-mi:“MI:2364”(proximity) | 0.270 |
| NSUN2 | RPSA2 | psi-mi:“MI:2364”(proximity) | 0.270 |
BioGRID (41): HARS (Co-fractionation), HNRNPR (Co-fractionation), PAPOLG (Proximity Label-MS), PAPOLG (Affinity Capture-MS), PAPOLG (Affinity Capture-MS), PAPOLG (Affinity Capture-MS), PAPOLG (Positive Genetic), PAPOLG (Negative Genetic), PAPOLG (Affinity Capture-MS), RPS6KA1 (Affinity Capture-MS), SPTB (Affinity Capture-MS), ZFC3H1 (Affinity Capture-MS), PAPOLG (Affinity Capture-MS), PAPOLG (Affinity Capture-MS), PAPOLG (Affinity Capture-MS)
ESM2 similar proteins: A0A0P0V4R0, A0A1D5PRR9, A4IG62, A9UMG5, B4JNS2, F1R345, F4HQE2, F4KFV7, O75417, P0C928, P42285, Q14527, Q16X92, Q28E61, Q2VPA6, Q43093, Q56YN3, Q5JK52, Q5U2U7, Q5W9E7, Q5ZJT0, Q5ZLV4, Q60446, Q642J4, Q6PCL9, Q6PCN7, Q6PFE3, Q7XT07, Q8CGS6, Q8H2D5, Q8IYB8, Q8IYD8, Q8K394, Q94BR5, Q95216, Q9BWT3, Q9CZU3, Q9DG67, Q9FF61, Q9FT73
Diamond homologs: O42617, O82312, P25500, P29468, P51003, P51004, P51005, P51006, Q10295, Q51D88, Q54J73, Q56XM9, Q61183, Q6PCL9, Q8VYW1, Q9BWT3, Q9LMT2, Q9NRJ5, Q9UW26, Q9WVP6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 78 |
| Likely benign | 4 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2835 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:60756473:G:GT | donor_gain | 1.0000 |
| 2:60756491:TCTGC:T | donor_gain | 1.0000 |
| 2:60756494:GC:G | donor_gain | 1.0000 |
| 2:60756496:G:GG | donor_gain | 1.0000 |
| 2:60760120:A:AG | acceptor_gain | 1.0000 |
| 2:60760121:T:G | acceptor_gain | 1.0000 |
| 2:60760127:T:TA | acceptor_gain | 1.0000 |
| 2:60760131:C:G | acceptor_gain | 1.0000 |
| 2:60760131:CA:C | acceptor_loss | 1.0000 |
| 2:60760132:A:AG | acceptor_gain | 1.0000 |
| 2:60760133:G:GT | acceptor_gain | 1.0000 |
| 2:60760133:GA:G | acceptor_gain | 1.0000 |
| 2:60760133:GAA:G | acceptor_gain | 1.0000 |
| 2:60760133:GAAA:G | acceptor_gain | 1.0000 |
| 2:60760133:GAAAC:G | acceptor_gain | 1.0000 |
| 2:60760279:G:GT | donor_gain | 1.0000 |
| 2:60760293:CAG:C | donor_gain | 1.0000 |
| 2:60760293:CAGG:C | donor_loss | 1.0000 |
| 2:60760294:AGG:A | donor_loss | 1.0000 |
| 2:60760295:GGT:G | donor_loss | 1.0000 |
| 2:60760296:G:GG | donor_gain | 1.0000 |
| 2:60760297:T:A | donor_loss | 1.0000 |
| 2:60761739:AGGCT:A | acceptor_gain | 1.0000 |
| 2:60761740:GGCTG:G | acceptor_gain | 1.0000 |
| 2:60761804:TAAG:T | donor_loss | 1.0000 |
| 2:60761805:AAGGT:A | donor_loss | 1.0000 |
| 2:60761808:GTAAG:G | donor_loss | 1.0000 |
| 2:60761809:T:A | donor_loss | 1.0000 |
| 2:60768776:TACAG:T | acceptor_loss | 1.0000 |
| 2:60768779:A:AG | acceptor_gain | 1.0000 |
AlphaMissense
4827 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:60760175:G:A | G20E | 1.000 |
| 2:60760190:T:A | I25N | 1.000 |
| 2:60760238:T:C | L41S | 1.000 |
| 2:60760295:G:C | R60T | 1.000 |
| 2:60760295:G:T | R60M | 1.000 |
| 2:60761741:G:C | R60S | 1.000 |
| 2:60761741:G:T | R60S | 1.000 |
| 2:60761781:T:A | W74R | 1.000 |
| 2:60761781:T:C | W74R | 1.000 |
| 2:60768504:G:A | G94D | 1.000 |
| 2:60768518:T:C | F99L | 1.000 |
| 2:60768520:T:A | F99L | 1.000 |
| 2:60768520:T:G | F99L | 1.000 |
| 2:60768521:G:A | G100R | 1.000 |
| 2:60768521:G:C | G100R | 1.000 |
| 2:60768522:G:A | G100E | 1.000 |
| 2:60768522:G:T | G100V | 1.000 |
| 2:60768531:G:T | R103M | 1.000 |
| 2:60768534:T:A | L104H | 1.000 |
| 2:60768534:T:C | L104P | 1.000 |
| 2:60768786:G:C | D112H | 1.000 |
| 2:60768787:A:T | D112V | 1.000 |
| 2:60768788:C:A | D112E | 1.000 |
| 2:60768788:C:G | D112E | 1.000 |
| 2:60768790:T:A | I113N | 1.000 |
| 2:60768793:A:T | D114V | 1.000 |
| 2:60768794:T:A | D114E | 1.000 |
| 2:60768794:T:G | D114E | 1.000 |
| 2:60768795:G:C | A115P | 1.000 |
| 2:60768801:T:C | C117R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000070533 (2:60775721 T>C), RS1000075799 (2:60790140 C>T), RS1000085285 (2:60781982 T>C), RS1000159110 (2:60800617 G>C), RS1000173546 (2:60777551 A>G), RS1000215106 (2:60800856 A>AT), RS1000282169 (2:60784439 A>G,T), RS1000334774 (2:60772120 A>G), RS1000435668 (2:60777999 A>G,T), RS1000484471 (2:60781612 C>G), RS1000485762 (2:60764911 A>G), RS1000517789 (2:60764656 G>A,C), RS1000629110 (2:60764678 G>A), RS1000660311 (2:60764870 A>G), RS1000719035 (2:60758580 A>C)
Disease associations
OMIM: gene MIM:616865 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
10 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001438_15 | Crohn’s disease | 5.000000e-09 |
| GCST002481_14 | Acne (severe) | 2.000000e-06 |
| GCST005752_108 | Systemic lupus erythematosus | 1.000000e-08 |
| GCST006956_8 | Erectile dysfunction | 8.000000e-06 |
| GCST007400_20 | Systemic lupus erythematosus | 9.000000e-08 |
| GCST008573_4 | Composite immunoglobulin trait (IgA/IgM) | 6.000000e-10 |
| GCST009391_1349 | Metabolite levels | 2.000000e-06 |
| GCST009391_1394 | Metabolite levels | 9.000000e-06 |
| GCST009597_186 | Multiple sclerosis | 6.000000e-07 |
| GCST010043_96 | Asthma | 5.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010363 | lysophosphatidylcholine 20:4 measurement |
| EFO:0010368 | lysophosphatidylethanolamine 18:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression, affects cotreatment | 8 |
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tobacco Smoke Pollution | increases expression | 2 |
| 3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| manganese chloride | increases expression, affects cotreatment, increases abundance | 1 |
| lei gong teng | increases expression | 1 |
| epigallocatechin gallate | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| torcetrapib | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants, Occupational | affects expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dexamethasone | increases expression, affects cotreatment | 1 |
| Diazinon | increases methylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Indomethacin | affects cotreatment, 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): acne, erectile dysfunction