PCBP3
gene geneOn this page
Also known as FLJ44028
Summary
PCBP3 (poly(rC) binding protein 3, HGNC:8651) is a protein-coding gene on chromosome 21q22.3, encoding Poly(rC)-binding protein 3 (P57721). Single-stranded nucleic acid binding protein that binds preferentially to oligo dC.
This gene encodes a member of the KH-domain protein subfamily. Proteins of this subfamily, also referred to as alpha-CPs, bind to RNA with a specificity for C-rich pyrimidine regions. Alpha-CPs play important roles in post-transcriptional activities and have different cellular distributions. The protein encoded by this gene lacks the nuclear localization signals found in other subfamily members. Alternative splicing results in multiple transcript variants encoding distinct isoforms.
Source: NCBI Gene 54039 — RefSeq curated summary.
At a glance
- GWAS associations: 15
- Clinical variants (ClinVar): 61 total — 1 likely-pathogenic
- Druggable target: yes
- MANE Select transcript:
NM_001384156
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:8651 |
| Approved symbol | PCBP3 |
| Name | poly(rC) binding protein 3 |
| Location | 21q22.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ44028 |
| Ensembl gene | ENSG00000183570 |
| Ensembl biotype | protein_coding |
| OMIM | 608502 |
| Entrez | 54039 |
Gene structure
Transcript identifiers
Ensembl transcripts: 33 — 20 protein_coding, 11 protein_coding_CDS_not_defined, 2 retained_intron
ENST00000400304, ENST00000400305, ENST00000400308, ENST00000400309, ENST00000400310, ENST00000400314, ENST00000423045, ENST00000449640, ENST00000465077, ENST00000468429, ENST00000472191, ENST00000475402, ENST00000481302, ENST00000498121, ENST00000549265, ENST00000593338, ENST00000594149, ENST00000594320, ENST00000609985, ENST00000610200, ENST00000628776, ENST00000681687, ENST00000909830, ENST00000909831, ENST00000909832, ENST00000909833, ENST00000909834, ENST00000922168, ENST00000922169, ENST00000965783, ENST00000965784, ENST00000965785, ENST00000965786
RefSeq mRNA: 23 — MANE Select: NM_001384156
NM_001130141, NM_001348238, NM_001348239, NM_001348240, NM_001348241, NM_001348242, NM_001348243, NM_001348244, NM_001348245, NM_001382276, NM_001382277, NM_001382278, NM_001382279, NM_001382281, NM_001382282, NM_001382283, NM_001382284, NM_001382285, NM_001382286, NM_001382287, NM_001382288, NM_001384156, NM_020528
CCDS: CCDS42974, CCDS46652, CCDS86993, CCDS86994
Canonical transcript exons
ENST00000681687 — 18 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001299723 | 45900997 | 45901113 |
| ENSE00001322404 | 45929917 | 45929995 |
| ENSE00001542369 | 45735392 | 45735429 |
| ENSE00002301087 | 45849961 | 45850095 |
| ENSE00003472505 | 45917588 | 45917629 |
| ENSE00003535780 | 45900591 | 45900623 |
| ENSE00003585868 | 45909355 | 45909486 |
| ENSE00003588949 | 45930786 | 45930845 |
| ENSE00003604223 | 45935253 | 45935305 |
| ENSE00003605727 | 45910902 | 45911030 |
| ENSE00003635207 | 45940030 | 45940199 |
| ENSE00003637603 | 45913951 | 45914025 |
| ENSE00003639940 | 45899599 | 45899622 |
| ENSE00003745442 | 45896208 | 45896362 |
| ENSE00003911389 | 45755417 | 45755452 |
| ENSE00003912086 | 45668874 | 45668952 |
| ENSE00003915400 | 45643725 | 45643868 |
| ENSE00003915807 | 45941670 | 45942450 |
Expression profiles
Bgee: expression breadth ubiquitous, 172 present calls, max score 95.77.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.4585 / max 334.6234, expressed in 1285 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 189580 | 9.1793 | 1237 |
| 189577 | 0.4002 | 229 |
| 189579 | 0.3894 | 180 |
| 189576 | 0.2711 | 134 |
| 189578 | 0.1888 | 63 |
| 189583 | 0.0160 | 4 |
| 189584 | 0.0138 | 4 |
Top tissues by expression
289 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right hemisphere of cerebellum | UBERON:0014890 | 95.77 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.76 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.57 | gold quality |
| cerebellum | UBERON:0002037 | 92.36 | gold quality |
| adenohypophysis | UBERON:0002196 | 89.59 | gold quality |
| right testis | UBERON:0004534 | 89.02 | gold quality |
| left testis | UBERON:0004533 | 88.79 | gold quality |
| pituitary gland | UBERON:0000007 | 86.34 | gold quality |
| testis | UBERON:0000473 | 85.09 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.82 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.66 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 83.59 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 82.46 | gold quality |
| lower esophagus | UBERON:0013473 | 82.33 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.36 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 81.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 80.45 | gold quality |
| cingulate cortex | UBERON:0003027 | 80.17 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 80.03 | gold quality |
| body of uterus | UBERON:0009853 | 79.88 | gold quality |
| spleen | UBERON:0002106 | 79.52 | gold quality |
| prefrontal cortex | UBERON:0000451 | 79.45 | gold quality |
| spinal cord | UBERON:0002240 | 79.41 | gold quality |
| nucleus accumbens | UBERON:0001882 | 78.16 | gold quality |
| omental fat pad | UBERON:0010414 | 77.86 | gold quality |
| sural nerve | UBERON:0015488 | 77.82 | gold quality |
| peritoneum | UBERON:0002358 | 77.76 | gold quality |
| left uterine tube | UBERON:0001303 | 77.62 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 77.60 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 6.76 |
| E-ANND-3 | no | 4.79 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): HNRNPK, TFCP2
miRNA regulators (miRDB)
22 targeting PCBP3, 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-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-2053 | 99.57 | 69.15 | 1635 |
| HSA-MIR-486-3P | 99.51 | 66.82 | 1901 |
| HSA-MIR-1207-5P | 99.49 | 69.11 | 2983 |
| HSA-MIR-4677-3P | 99.49 | 67.91 | 1246 |
| HSA-MIR-4316 | 99.37 | 65.75 | 1360 |
| HSA-MIR-6808-5P | 99.31 | 66.23 | 2150 |
| HSA-MIR-6893-5P | 99.31 | 66.25 | 2119 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-4763-3P | 99.10 | 67.83 | 2649 |
| HSA-MIR-760 | 98.81 | 66.65 | 1392 |
| HSA-MIR-423-5P | 98.69 | 67.48 | 1522 |
| HSA-MIR-3184-5P | 98.56 | 67.13 | 1491 |
| HSA-MIR-4675 | 97.69 | 64.82 | 774 |
| HSA-MIR-4741 | 97.69 | 64.14 | 883 |
| HSA-MIR-4723-3P | 97.67 | 65.91 | 1017 |
| HSA-MIR-6769B-3P | 97.41 | 65.53 | 1036 |
| HSA-MIR-3183 | 97.40 | 65.68 | 978 |
| HSA-MIR-6800-3P | 96.15 | 65.16 | 461 |
| HSA-MIR-3141 | 84.79 | 60.38 | 35 |
Literature-anchored findings (GeneRIF, showing 3)
- Study examined splicing factors located on chromosome 21 for their effect on tau exon 10 and discovered that one of them, hnRNPE3 (PCBP3), modestly activates splicing of exon 10 by interacting with its proximal downstream intron around position +19. (PMID:19914360)
- Low PCBP3 expression is associated with Pancreatic ductal adenocarcinoma. (PMID:30275197)
- LncRNA A2M-AS1 Promotes Ferroptosis in Pancreatic Cancer via Interacting With PCBP3. (PMID:35920801)
Cross-species orthologs
13 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | zgc:110045 | ENSDARG00000057141 |
| mus_musculus | Pcbp3 | ENSMUSG00000001120 |
| rattus_norvegicus | Pcbp3 | ENSRNOG00000001245 |
| drosophila_melanogaster | Psi | FBGN0014870 |
| drosophila_melanogaster | ps | FBGN0261552 |
| drosophila_melanogaster | mub | FBGN0262737 |
| drosophila_melanogaster | Imp | FBGN0285926 |
| caenorhabditis_elegans | WBGENE00003978 | |
| caenorhabditis_elegans | WBGENE00007534 | |
| caenorhabditis_elegans | WBGENE00010908 | |
| caenorhabditis_elegans | WBGENE00013347 | |
| caenorhabditis_elegans | WBGENE00016489 | |
| caenorhabditis_elegans | fubl-4 | WBGENE00019692 |
Paralogs (12): IGF2BP2 (ENSG00000073792), KHSRP (ENSG00000088247), PCBP4 (ENSG00000090097), NOVA2 (ENSG00000104967), FUBP3 (ENSG00000107164), IGF2BP3 (ENSG00000136231), NOVA1 (ENSG00000139910), IGF2BP1 (ENSG00000159217), FUBP1 (ENSG00000162613), HNRNPK (ENSG00000165119), PCBP1 (ENSG00000169564), PCBP2 (ENSG00000197111)
Protein
Protein identifiers
Poly(rC)-binding protein 3 — P57721 (reviewed: P57721)
Alternative names: Alpha-CP3, PCBP3-overlapping transcript, PCBP3-overlapping transcript 1
All UniProt accessions (3): E9PFP8, P57721, J3QT27
UniProt curated annotations — full annotation on UniProt →
Function. Single-stranded nucleic acid binding protein that binds preferentially to oligo dC.
Subcellular location. Cytoplasm.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P57721-1 | 1 | yes |
| P57721-2 | 2 | |
| P57721-3 | 3 | |
| P57721-4 | 4 | |
| P57721-5 | 5 |
RefSeq proteins (23): NP_001123613, NP_001335167, NP_001335168, NP_001335169, NP_001335170, NP_001335171, NP_001335172, NP_001335173, NP_001335174, NP_001369205, NP_001369206, NP_001369207, NP_001369208, NP_001369210, NP_001369211, NP_001369212, NP_001369213, NP_001369214, NP_001369215, NP_001369216, NP_001369217, NP_001371085, NP_065389 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004087 | KH_dom | Domain |
| IPR004088 | KH_dom_type_1 | Domain |
| IPR036612 | KH_dom_type_1_sf | Homologous_superfamily |
Pfam: PF00013
UniProt features (7 total): domain 3, splice variant 3, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P57721-F1 | 67.29 | 0.02 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
MORF_RAGE, CAR_TNFRSF25, MORF_FANCG, CAR_MYST2, GOBP_VIRAL_GENOME_REPLICATION, GOBP_VIRAL_LIFE_CYCLE, CAR_MLANA, MORF_PML, MORF_PDPK1, MORF_IKBKG, chr21q22, MORF_MT4, GOMF_SINGLE_STRANDED_DNA_BINDING, MORF_ORC1L, MORF_RFC1
GO Biological Process (4): negative regulation of transcription by RNA polymerase II (GO:0000122), regulation of transcription by RNA polymerase II (GO:0006357), mRNA metabolic process (GO:0016071), viral RNA genome replication (GO:0039694)
GO Molecular Function (6): RNA binding (GO:0003723), mRNA binding (GO:0003729), C-rich single-stranded DNA binding (GO:1990829), nucleic acid binding (GO:0003676), DNA binding (GO:0003677), protein binding (GO:0005515)
GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829), extracellular exosome (GO:0070062), ribonucleoprotein complex (GO:1990904)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| nucleic acid binding | 2 |
| binding | 2 |
| cellular anatomical structure | 2 |
| regulation of transcription by RNA polymerase II | 1 |
| negative regulation of DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| RNA metabolic process | 1 |
| viral genome replication | 1 |
| RNA biosynthetic process | 1 |
| RNA binding | 1 |
| single-stranded DNA binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| extracellular vesicle | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
1134 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCBP3 | YBEY | P58557 | 610 |
| PCBP3 | POFUT2 | Q9Y2G5 | 558 |
| PCBP3 | RBM11 | P57052 | 473 |
| PCBP3 | RWDD2B | P57060 | 437 |
| PCBP3 | COMMD9 | Q9P000 | 433 |
| PCBP3 | TRIB3 | Q96RU7 | 416 |
| PCBP3 | TRMT11 | Q7Z4G4 | 400 |
| PCBP3 | PROP1 | O75360 | 389 |
| PCBP3 | ART1 | P52961 | 387 |
| PCBP3 | GEMIN5 | Q8TEQ6 | 387 |
| PCBP3 | WDR7 | Q9Y4E6 | 384 |
| PCBP3 | HNRNPDL | O14979 | 379 |
| PCBP3 | DIRAS1 | O95057 | 377 |
| PCBP3 | SLC19A1 | P41440 | 376 |
| PCBP3 | ZNF827 | Q17R98 | 374 |
IntAct
81 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PSMA5 | PSMA7 | psi-mi:“MI:0914”(association) | 0.800 |
| COPRS | PRMT5 | psi-mi:“MI:0914”(association) | 0.770 |
| CFTR | ESYT2 | psi-mi:“MI:0914”(association) | 0.710 |
| ENO2 | ENO1 | psi-mi:“MI:0914”(association) | 0.710 |
| EIF4EBP1 | EIF4E1B | psi-mi:“MI:0914”(association) | 0.670 |
| EIF3E | EIF3F | psi-mi:“MI:0914”(association) | 0.640 |
| GNPDA2 | GNPDA1 | psi-mi:“MI:0914”(association) | 0.640 |
| MSRB2 | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| KCTD17 | CBX4 | psi-mi:“MI:0914”(association) | 0.530 |
| CCDC6 | LZTS3 | psi-mi:“MI:0914”(association) | 0.530 |
| PDCD2L | PRMT3 | psi-mi:“MI:0914”(association) | 0.530 |
| WNT16 | WNT11 | psi-mi:“MI:0914”(association) | 0.530 |
| COLGALT2 | COL1A1 | psi-mi:“MI:0914”(association) | 0.530 |
| PLOD3 | COL4A1 | psi-mi:“MI:0914”(association) | 0.530 |
| BBOX1 | ITPRID2 | psi-mi:“MI:0914”(association) | 0.530 |
| PSMA2 | PSMD11 | psi-mi:“MI:0914”(association) | 0.530 |
| RAB6B | RAB6A | psi-mi:“MI:0914”(association) | 0.530 |
| Aif1l | psi-mi:“MI:0915”(physical association) | 0.400 | |
| RTL8B | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GFUS | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TRMT5 | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| GCLM | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| AGXT | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| LGALSL | PCBP3 | psi-mi:“MI:0915”(physical association) | 0.400 |
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (185): PCBP3 (Affinity Capture-Western), PCBP1 (Affinity Capture-Western), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Proximity Label-MS), PCBP3 (Proximity Label-MS), PCBP3 (Affinity Capture-MS), PCBP3 (Affinity Capture-MS)
ESM2 similar proteins: A0A8I6G705, A1L3K1, B5DFF2, B5DFI8, G3MWR8, O19048, O19137, O88508, P06730, P29338, P57721, P57722, P60335, Q12800, Q13888, Q15365, Q15366, Q16763, Q1LZ53, Q1RML1, Q28D01, Q2TBV5, Q4W5Z4, Q5E9A3, Q5FVR7, Q5NVP9, Q5TDH0, Q61990, Q6AYU1, Q6DH13, Q6P1K8, Q6ZRY4, Q7RTP6, Q8C6G8, Q8CCI5, Q8CJ19, Q8IY57, Q8N488, Q8VC52, Q921J4
Diamond homologs: A0A0B4KGY6, A0A1W2P872, O19048, O19049, O73932, O74919, P51513, P57721, P57722, P60335, P61978, P61979, P61980, Q15365, Q15366, Q2PFW9, Q32PX7, Q3T0D0, Q4R4M6, Q5E9A3, Q5R5H8, Q5RB68, Q5SF07, Q5ZIQ3, Q5ZLP8, Q61990, Q80WA4, Q8UVD9, Q91WJ8, Q96AE4, Q96I24, Q9JKN6, Q9LZ82, Q9SZH4, Q9UNW9, Q9Y6M1, O00425, P38151, P57723, P57724
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 118 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 |
|---|---|---|---|
| Glycolysis | 5 | 16.2× | 9e-04 |
| Regulation of RUNX3 expression and activity | 6 | 15.9× | 8e-04 |
| Regulation of activated PAK-2p34 by proteasome mediated degradation | 5 | 15.8× | 9e-04 |
| Regulation of ornithine decarboxylase (ODC) | 5 | 15.4× | 9e-04 |
| Vpu mediated degradation of CD4 | 5 | 15.1× | 9e-04 |
| Autodegradation of the E3 ubiquitin ligase COP1 | 5 | 15.1× | 9e-04 |
| Ubiquitin-dependent degradation of Cyclin D | 5 | 15.1× | 9e-04 |
| Defective CFTR causes cystic fibrosis | 6 | 15.0× | 8e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
61 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 42 |
| Likely benign | 6 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 394602 | GRCh37/hg19 21q22.3(chr21:46955240-48080867)x1 | Likely pathogenic |
SpliceAI
8074 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 21:45643867:AGGT:A | donor_loss | 1.0000 |
| 21:45643868:GGT:G | donor_loss | 1.0000 |
| 21:45643869:GT:G | donor_loss | 1.0000 |
| 21:45735380:AACT:A | acceptor_gain | 1.0000 |
| 21:45735428:GT:G | donor_gain | 1.0000 |
| 21:45735430:G:GG | donor_gain | 1.0000 |
| 21:45899619:GAAGG:G | donor_loss | 1.0000 |
| 21:45899623:G:GA | donor_loss | 1.0000 |
| 21:45899624:T:G | donor_loss | 1.0000 |
| 21:45900996:GA:G | acceptor_gain | 1.0000 |
| 21:45901111:G:GT | donor_gain | 1.0000 |
| 21:45911028:G:GT | donor_gain | 1.0000 |
| 21:45911104:G:GT | donor_gain | 1.0000 |
| 21:45643864:GGCAG:G | donor_gain | 0.9900 |
| 21:45643865:GCAG:G | donor_gain | 0.9900 |
| 21:45643865:GCAGG:G | donor_gain | 0.9900 |
| 21:45643869:G:GG | donor_gain | 0.9900 |
| 21:45649688:T:TA | acceptor_gain | 0.9900 |
| 21:45735380:A:AG | acceptor_gain | 0.9900 |
| 21:45735381:A:G | acceptor_gain | 0.9900 |
| 21:45735383:T:A | acceptor_gain | 0.9900 |
| 21:45735386:TTACA:T | acceptor_loss | 0.9900 |
| 21:45735387:TACAG:T | acceptor_loss | 0.9900 |
| 21:45735389:CA:C | acceptor_loss | 0.9900 |
| 21:45735390:A:AT | acceptor_loss | 0.9900 |
| 21:45735391:G:GT | acceptor_loss | 0.9900 |
| 21:45735428:GTGTA:G | donor_loss | 0.9900 |
| 21:45735430:G:GA | donor_loss | 0.9900 |
| 21:45735431:T:TT | donor_loss | 0.9900 |
| 21:45735432:A:AT | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000000905 (21:45884320 G>C), RS1000042485 (21:45923762 A>C,G), RS1000050760 (21:45721324 A>G), RS1000053826 (21:45892447 G>A), RS1000073459 (21:45780610 A>G), RS1000082110 (21:45862033 A>G,T), RS1000094531 (21:45695647 A>C), RS1000107756 (21:45902652 C>A), RS1000108670 (21:45726972 G>C), RS1000108993 (21:45770598 A>G), RS1000120266 (21:45748348 G>A,T), RS1000134741 (21:45789353 C>T), RS1000137666 (21:45853997 A>G), RS1000154893 (21:45848663 A>C), RS1000167375 (21:45778181 G>T)
Disease associations
OMIM: gene MIM:608502 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
15 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001208_10 | Insulin resistance/response | 1.000000e-06 |
| GCST003997_8 | Myopia | 5.000000e-13 |
| GCST004952_39 | Ankle injury | 4.000000e-08 |
| GCST005580_40 | Intraocular pressure | 5.000000e-13 |
| GCST006291_125 | Spherical equivalent or myopia (age of diagnosis) | 1.000000e-14 |
| GCST006976_96 | Macular thickness | 9.000000e-09 |
| GCST007637_14 | Diffusing capacity of carbon monoxide | 2.000000e-06 |
| GCST009306_19 | Spatial processing | 9.000000e-06 |
| GCST010002_78 | Refractive error | 2.000000e-36 |
| GCST011494_105 | Daytime nap | 4.000000e-11 |
| GCST012402_14 | Low myopia | 3.000000e-06 |
| GCST90013442_35 | Keratoconus | 9.000000e-12 |
| GCST90020024_818 | A body shape index | 1.000000e-08 |
| GCST90020029_163 | Waist circumference adjusted for body mass index | 4.000000e-10 |
| GCST90020029_164 | Waist circumference adjusted for body mass index | 3.000000e-08 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:1002021 | ankle injury |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0004847 | age at onset |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0008354 | cognitive function measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL5465293 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation, increases expression | 3 |
| (+)-JQ1 compound | increases expression | 2 |
| Benzo(a)pyrene | affects methylation, decreases expression, decreases methylation | 2 |
| Valproic Acid | affects expression, decreases methylation | 2 |
| triphenyl phosphate | affects expression | 1 |
| N-(1-naphthyl)ethylenediamine | affects response to substance | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | affects methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| jinfukang | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | affects cotreatment, decreases expression | 1 |
| Phthalic Acids | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Progesterone | increases expression | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | increases expression | 1 |
| Smoke | increases expression | 1 |
| Tetrachlorodibenzodioxin | increases expression | 1 |
| Tobacco Smoke Pollution | decreases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| Aflatoxin B1 | affects methylation | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5338437 | Binding | Binding affinity to Pcbp3 (unknown origin) at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis | Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod |
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.