PARPBP
gene geneOn this page
Also known as FLJ20641PARI
Summary
PARPBP (PARP1 binding protein, HGNC:26074) is a protein-coding gene on chromosome 12q23.2, encoding PCNA-interacting partner (Q9NWS1). Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability.
Predicted to enable DNA binding activity. Involved in negative regulation of double-strand break repair via homologous recombination. Located in chromatin and nucleoplasm.
Source: NCBI Gene 55010 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 105 total
- MANE Select transcript:
NM_017915
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26074 |
| Approved symbol | PARPBP |
| Name | PARP1 binding protein |
| Location | 12q23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20641, PARI |
| Ensembl gene | ENSG00000185480 |
| Ensembl biotype | protein_coding |
| OMIM | 613687 |
| Entrez | 55010 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 19 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000327680, ENST00000392909, ENST00000392911, ENST00000392914, ENST00000412715, ENST00000417507, ENST00000457614, ENST00000535811, ENST00000537257, ENST00000541394, ENST00000541668, ENST00000543784, ENST00000852220, ENST00000852221, ENST00000852222, ENST00000852223, ENST00000929768, ENST00000929769, ENST00000929770, ENST00000929771, ENST00000929772, ENST00000929773, ENST00000967998, ENST00000967999
RefSeq mRNA: 67 — MANE Select: NM_017915
NM_001319988, NM_001319993, NM_001319994, NM_001319996, NM_001382721, NM_001382722, NM_001382723, NM_001382724, NM_001382725, NM_001382726, NM_001382728, NM_001382729, NM_001382731, NM_001382732, NM_001382735, NM_001400853, NM_001400854, NM_001400855, NM_001400856, NM_001400857, NM_001400858, NM_001400859, NM_001400860, NM_001400861, NM_001400862, NM_001400863, NM_001400864, NM_001400865, NM_001400866, NM_001400867, NM_001400868, NM_001400869, NM_001400870, NM_001400871, NM_001400872, NM_001400873, NM_001400874, NM_001400875, NM_001400876, NM_001400877, NM_001400878, NM_001400879, NM_001400880, NM_001400881, NM_001400883, NM_001400885, NM_001400886, NM_001400887, NM_001400888, NM_001400889, NM_001400890, NM_001400891, NM_001400892, NM_001400893, NM_001400894, NM_001400895, NM_001400902, NM_001400903, NM_001400905, NM_001400906, NM_001400907, NM_001400925, NM_001400926, NM_001400927, NM_001400928, NM_001400929, NM_017915
CCDS: CCDS81728, CCDS81729, CCDS81730, CCDS9090, CCDS91743
Canonical transcript exons
ENST00000327680 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001314302 | 102164438 | 102164608 |
| ENSE00003490031 | 102123886 | 102124041 |
| ENSE00003495299 | 102165729 | 102165883 |
| ENSE00003502613 | 102182549 | 102182627 |
| ENSE00003529925 | 102175483 | 102175666 |
| ENSE00003571928 | 102195951 | 102197520 |
| ENSE00003591981 | 102195312 | 102195447 |
| ENSE00003595314 | 102153869 | 102153976 |
| ENSE00003654471 | 102178592 | 102178770 |
| ENSE00003747564 | 102148230 | 102148463 |
| ENSE00003908586 | 102120183 | 102120286 |
Expression profiles
Bgee: expression breadth ubiquitous, 183 present calls, max score 88.82.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7666 / max 204.9543, expressed in 1541 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 127678 | 6.2298 | 1393 |
| 127679 | 1.9197 | 853 |
| 127680 | 1.5825 | 737 |
| 127681 | 0.0347 | 7 |
Top tissues by expression
267 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.27 | gold quality |
| ventricular zone | UBERON:0003053 | 87.50 | gold quality |
| ganglionic eminence | UBERON:0004023 | 82.66 | gold quality |
| secondary oocyte | CL:0000655 | 82.39 | gold quality |
| embryo | UBERON:0000922 | 81.29 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 81.14 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 79.05 | silver quality |
| bone marrow cell | CL:0002092 | 76.68 | gold quality |
| rectum | UBERON:0001052 | 76.45 | gold quality |
| stromal cell of endometrium | CL:0002255 | 76.41 | gold quality |
| adrenal tissue | UBERON:0018303 | 76.27 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.24 | gold quality |
| esophagus mucosa | UBERON:0002469 | 75.82 | gold quality |
| bone marrow | UBERON:0002371 | 75.35 | gold quality |
| endometrium | UBERON:0001295 | 73.61 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 72.43 | gold quality |
| vermiform appendix | UBERON:0001154 | 70.66 | gold quality |
| hair follicle | UBERON:0002073 | 70.28 | gold quality |
| lymph node | UBERON:0000029 | 70.01 | gold quality |
| monocyte | CL:0000576 | 69.97 | gold quality |
| mononuclear cell | CL:0000842 | 69.78 | gold quality |
| leukocyte | CL:0000738 | 69.69 | gold quality |
| hypothalamus | UBERON:0001898 | 68.88 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 68.79 | gold quality |
| calcaneal tendon | UBERON:0003701 | 68.45 | gold quality |
| esophagus | UBERON:0001043 | 68.13 | gold quality |
| testis | UBERON:0000473 | 67.74 | gold quality |
| colonic epithelium | UBERON:0000397 | 67.69 | gold quality |
| right testis | UBERON:0004534 | 67.55 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.76 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
74 targeting PARPBP, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-4682 | 100.00 | 68.89 | 1258 |
| 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-6857-5P | 99.87 | 65.32 | 985 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-944 | 99.82 | 70.85 | 3042 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-6875-3P | 99.82 | 70.26 | 2983 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
Literature-anchored findings (GeneRIF, showing 11)
- Demonstrated that C12orf48 protein could directly interact with Poly(ADP-ribose) Polymerase-1 (PARP-1). Knockdown of C12orf48 by siRNA in PDAC cells significantly suppressed their growth. (PMID:20931645)
- PARI suppresses inappropriate recombination events at mammalian replication forks. (PMID:22153967)
- Knockdown of C12orf48 by siRNA in HeLa cells significantly suppressed their growth (PMID:23039964)
- PARI overexpression promotes genomic instability and pancreatic tumorigenesis. (PMID:23436799)
- PARI inhibits homologous recombination in vivo, and its knockdown suppresses the UV sensitivity of RAD18-depleted cells (PMID:26792895)
- PARI is a latent modulator of stalled fork processing, which is required for stable genome inheritance under both endogenous and exogenous replication stress (PMID:28894029)
- PARI plays potential oncogenic roles and functions as a transcriptional target and effector of FOXM1 in gastric cancer development (PMID:29805304)
- PARP1-binding protein was significantly upregulated in Hepatocellular Carcinoma tissues compared with normal liver. High PARPBP expression was associated with elevated serum AFP level, vascular invasion, poor tumor differentiation, and advanced TNM stage. (PMID:30949905)
- show that PARI expression negatively correlates with expression of differentiation markers in clinical myeloid leukemia samples, suggesting that targeting PARI may restore differentiation ability of leukemia cells and antagonize their proliferation (PMID:30967629)
- PARPBP expression is enhanced in lung adenocarcinoma tissues and is a potential factor in the progression of lung adenocarcinoma. (PMID:31611199)
- SNORA70E promotes the occurrence and development of ovarian cancer through pseudouridylation modification of RAP1B and alternative splicing of PARPBP. (PMID:36056690)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | parpbp | ENSDARG00000029944 |
| mus_musculus | Parpbp | ENSMUSG00000035365 |
| rattus_norvegicus | Parpbp | ENSRNOG00000004682 |
Protein
Protein identifiers
PCNA-interacting partner — Q9NWS1 (reviewed: Q9NWS1)
Alternative names: PARP-1 binding protein, PARP1-binding protein
All UniProt accessions (7): Q9NWS1, A0A0C4DG30, B4DT40, B4DZ31, G8JLI2, H0Y6B3, J3KQY3
UniProt curated annotations — full annotation on UniProt →
Function. Required to suppress inappropriate homologous recombination, thereby playing a central role DNA repair and in the maintenance of genomic stability. Antagonizes homologous recombination by interfering with the formation of the RAD51-DNA homologous recombination structure. Binds single-strand DNA and poly(A) homopolymers. Positively regulate the poly(ADP-ribosyl)ation activity of PARP1; however such function may be indirect.
Subunit / interactions. Interacts with RAD51 and PCNA. Interacts with PARP1. Interacts with TASOR.
Subcellular location. Cytoplasm. Nucleus.
Tissue specificity. Restricted to testis. Overexpressed in multiple cancer cells.
Domain organisation. Although it shares some sequence similarity with SRS2 yeast helicase, does not contain a functional ATPase domain suggesting it has no helicase activity.
Similarity. Belongs to the PARI family.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWS1-1 | 1 | yes |
| Q9NWS1-2 | 2 | |
| Q9NWS1-3 | 3 | |
| Q9NWS1-4 | 4 | |
| Q9NWS1-5 | 5 | |
| Q9NWS1-6 | 6 | |
| Q9NWS1-7 | 7 |
RefSeq proteins (66): NP_001306917, NP_001306922, NP_001306923, NP_001306925, NP_001369650, NP_001369651, NP_001369652, NP_001369653, NP_001369654, NP_001369655, NP_001369657, NP_001369658, NP_001369660, NP_001369661, NP_001369664, NP_001387782, NP_001387783, NP_001387784, NP_001387785, NP_001387786, NP_001387787, NP_001387788, NP_001387789, NP_001387790, NP_001387791, NP_001387792, NP_001387793, NP_001387794, NP_001387795, NP_001387796, NP_001387797, NP_001387798, NP_001387799, NP_001387800, NP_001387801, NP_001387802, NP_001387803, NP_001387804, NP_001387805, NP_001387806, NP_001387807, NP_001387808, NP_001387809, NP_001387810, NP_001387812, NP_001387814, NP_001387815, NP_001387816, NP_001387817, NP_001387818, NP_001387819, NP_001387820, NP_001387821, NP_001387822, NP_001387823, NP_001387824, NP_001387831, NP_001387832, NP_001387835, NP_001387836, NP_001387854, NP_001387855, NP_001387856, NP_001387857, NP_001387858, NP_060385* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR038932 | PARPBP | Family |
UniProt features (21 total): splice variant 11, sequence conflict 6, chain 1, region of interest 1, sequence variant 1, compositionally biased region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWS1-F1 | 70.70 | 0.37 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 189 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, GOBP_REGULATION_OF_DNA_RECOMBINATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_NEGATIVE_REGULATION_OF_DNA_REPAIR, GOBP_NEGATIVE_REGULATION_OF_DNA_RECOMBINATION, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, GOBP_REGULATION_OF_DNA_REPAIR, SHEPARD_BMYB_MORPHOLINO_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_DNA_DAMAGE_RESPONSE, FUJII_YBX1_TARGETS_DN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_STRESS, FISCHER_DREAM_TARGETS, GOBP_RECOMBINATIONAL_REPAIR
GO Biological Process (3): DNA repair (GO:0006281), negative regulation of double-strand break repair via homologous recombination (GO:2000042), DNA damage response (GO:0006974)
GO Molecular Function (2): DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (4): chromatin (GO:0000785), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nucleus (GO:0005634)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair via homologous recombination | 1 |
| negative regulation of DNA recombination | 1 |
| negative regulation of double-strand break repair | 1 |
| cellular response to stress | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| chromosome | 1 |
| nuclear lumen | 1 |
| intracellular anatomical structure | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
3020 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PARPBP | PMCH | P20382 | 871 |
| PARPBP | PARP1 | P09874 | 802 |
| PARPBP | FIRRM | Q9NSG2 | 536 |
| PARPBP | H1-0 | P07305 | 520 |
| PARPBP | HSP90AB1 | P08238 | 500 |
| PARPBP | HSP90AA1 | P07900 | 457 |
| PARPBP | WASHC3 | Q9Y3C0 | 449 |
| PARPBP | RAD54L | Q92698 | 430 |
| PARPBP | NUP37 | Q8NFH4 | 427 |
| PARPBP | CENPI | Q92674 | 398 |
| PARPBP | RAD51AP1 | Q96B01 | 394 |
| PARPBP | NCAPH | Q15003 | 378 |
| PARPBP | NPTX1 | Q15818 | 374 |
| PARPBP | CHODL | Q9H9P2 | 373 |
| PARPBP | HGH1 | P0CB43 | 371 |
IntAct
5 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PARPBP | H1-2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
| PARPBP | RPSA2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (17): PCNA (Reconstituted Complex), PCNA (Affinity Capture-Western), PARPBP (Reconstituted Complex), RAD51 (Reconstituted Complex), PARPBP (Reconstituted Complex), RAD51 (Biochemical Activity), PARPBP (Two-hybrid), PARPBP (Synthetic Lethality), PARPBP (Proximity Label-MS), PARPBP (Affinity Capture-MS), APOO (Affinity Capture-MS), RPSAP58 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PARPBP (Affinity Capture-MS), PARPBP (Proximity Label-MS)
ESM2 similar proteins: F5H982, O36361, O36373, O36381, O36417, O36419, O36420, O42654, O74387, O75818, P09284, P0C6Z9, P0CAE8, P0CAE9, P0DTP3, P0DTP4, P24437, P26003, P29882, P38299, P40385, P52348, P52359, P52363, P52364, P52376, P52441, P52465, P52534, P92529, Q01021, Q01032, Q01041, Q01500, Q12366, Q18LE3, Q28EM3, Q567C3, Q5RA78, Q5ZKL9
Diamond homologs: F1MF21, Q1RMA6, Q28EM3, Q32N66, Q5ZKL9, Q6IRT3, Q9EQ10, Q9NWS1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
105 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 80 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2426 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:102120284:CACGT:C | donor_loss | 1.0000 |
| 12:102120286:CG:C | donor_loss | 1.0000 |
| 12:102120287:G:GG | donor_gain | 1.0000 |
| 12:102120288:TAA:T | donor_loss | 1.0000 |
| 12:102123878:A:AG | acceptor_gain | 1.0000 |
| 12:102123879:C:G | acceptor_gain | 1.0000 |
| 12:102123881:TTAA:T | acceptor_loss | 1.0000 |
| 12:102123882:TAAG:T | acceptor_loss | 1.0000 |
| 12:102123883:A:AG | acceptor_gain | 1.0000 |
| 12:102123884:A:C | acceptor_loss | 1.0000 |
| 12:102123884:A:G | acceptor_gain | 1.0000 |
| 12:102123885:G:A | acceptor_loss | 1.0000 |
| 12:102123885:G:GG | acceptor_gain | 1.0000 |
| 12:102123885:GATA:G | acceptor_gain | 1.0000 |
| 12:102124040:AG:A | donor_loss | 1.0000 |
| 12:102124041:GGT:G | donor_loss | 1.0000 |
| 12:102124042:G:GC | donor_loss | 1.0000 |
| 12:102148344:G:GT | donor_gain | 1.0000 |
| 12:102148352:G:GT | donor_gain | 1.0000 |
| 12:102148376:GAACA:G | donor_gain | 1.0000 |
| 12:102148380:A:AG | donor_gain | 1.0000 |
| 12:102148381:G:GG | donor_gain | 1.0000 |
| 12:102148384:A:AG | donor_gain | 1.0000 |
| 12:102178590:A:AG | acceptor_gain | 1.0000 |
| 12:102178591:G:GG | acceptor_gain | 1.0000 |
| 12:102195944:A:AG | acceptor_gain | 1.0000 |
| 12:102195945:T:G | acceptor_gain | 1.0000 |
| 12:102195949:A:AG | acceptor_gain | 1.0000 |
| 12:102195949:AGAG:A | acceptor_gain | 1.0000 |
| 12:102195950:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
3844 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:102148242:T:C | F56L | 0.989 |
| 12:102148244:T:A | F56L | 0.989 |
| 12:102148244:T:G | F56L | 0.989 |
| 12:102195339:T:C | F431L | 0.987 |
| 12:102195341:T:A | F431L | 0.987 |
| 12:102195341:T:G | F431L | 0.987 |
| 12:102124024:G:C | A46P | 0.985 |
| 12:102164558:T:C | F206L | 0.983 |
| 12:102164560:C:A | F206L | 0.983 |
| 12:102164560:C:G | F206L | 0.983 |
| 12:102124016:T:C | L43P | 0.981 |
| 12:102123938:G:C | R17P | 0.979 |
| 12:102148275:T:A | W67R | 0.978 |
| 12:102148275:T:C | W67R | 0.978 |
| 12:102165741:T:C | F227L | 0.976 |
| 12:102165743:T:A | F227L | 0.976 |
| 12:102165743:T:G | F227L | 0.976 |
| 12:102164491:T:A | N183K | 0.974 |
| 12:102164491:T:G | N183K | 0.974 |
| 12:102164572:A:C | K210N | 0.973 |
| 12:102164572:A:T | K210N | 0.973 |
| 12:102164579:G:C | A213P | 0.973 |
| 12:102196277:T:C | F576L | 0.970 |
| 12:102196279:T:A | F576L | 0.970 |
| 12:102196279:T:G | F576L | 0.970 |
| 12:102164559:T:C | F206S | 0.969 |
| 12:102164568:T:C | L209S | 0.968 |
| 12:102165733:C:A | A224D | 0.968 |
| 12:102165820:T:C | L253S | 0.967 |
| 12:102153876:T:C | L132P | 0.966 |
dbSNP variants (sampled 300 via entrez): RS1000003553 (12:102144365 G>A), RS1000033222 (12:102185716 T>C), RS1000056660 (12:102189414 C>T), RS1000169838 (12:102130211 C>T), RS1000226041 (12:102172526 T>C), RS1000254806 (12:102195858 C>A,T), RS1000257514 (12:102139172 G>GT), RS1000264422 (12:102122230 T>C), RS1000390572 (12:102192376 C>T), RS1000410149 (12:102165594 G>A), RS1000439664 (12:102144700 C>G), RS1000461623 (12:102179564 C>T), RS1000521475 (12:102181853 T>C), RS1000555509 (12:102176605 T>C), RS1000564923 (12:102173953 T>C)
Disease associations
OMIM: gene MIM:613687 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000522_7 | Height | 8.000000e-06 |
| GCST004863_37 | Mosquito bite size | 1.000000e-06 |
| GCST008839_173 | Height | 3.000000e-97 |
| GCST010002_221 | Refractive error | 3.000000e-10 |
| GCST010703_2 | Brain morphology (MOSTest) | 3.000000e-37 |
| GCST012228_552 | Waist-hip index | 2.000000e-08 |
| GCST012230_46 | Waist-to-hip ratio adjusted for BMI | 7.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004346 | neuroimaging measurement |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11111201 | PARPBP, PMCH | 0.00 | 0 |
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, affects cotreatment, increases abundance, increases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| bisphenol A | decreases expression | 2 |
| Valproic Acid | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| afuresertib | decreases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | decreases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, increases expression | 1 |
| diallyl trisulfide | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| bisphenol S | decreases expression, affects cotreatment | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Dasatinib | decreases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Vorinostat | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Benzo(a)pyrene | decreases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Coumestrol | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Folic Acid | decreases expression, affects cotreatment | 1 |
| Formaldehyde | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_TC26 | HAP1 PARPBP (-) 1 | Cancer cell line | Male |
| CVCL_TC27 | HAP1 PARPBP (-) 2 | Cancer cell line | Male |
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.