PCGF3
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Also known as FLJ36550DONG1RNF3AMGC40413
Summary
PCGF3 (polycomb group ring finger 3, HGNC:10066) is a protein-coding gene on chromosome 4p16.3, encoding Polycomb group RING finger protein 3 (Q3KNV8). Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development.
The protein encoded by this gene contains a C3HC4 type RING finger, which is a motif known to be involved in protein-protein interactions. The specific function of this protein has not yet been determined.
Source: NCBI Gene 10336 — RefSeq curated summary.
At a glance
- GWAS associations: 25
- Clinical variants (ClinVar): 41 total
- MANE Select transcript:
NM_006315
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10066 |
| Approved symbol | PCGF3 |
| Name | polycomb group ring finger 3 |
| Location | 4p16.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ36550, DONG1, RNF3A, MGC40413 |
| Ensembl gene | ENSG00000185619 |
| Ensembl biotype | protein_coding |
| OMIM | 617543 |
| Entrez | 10336 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 22 protein_coding, 2 nonsense_mediated_decay, 2 retained_intron, 2 protein_coding_CDS_not_defined
ENST00000362003, ENST00000400151, ENST00000419774, ENST00000427463, ENST00000430644, ENST00000433814, ENST00000440452, ENST00000470161, ENST00000475288, ENST00000482726, ENST00000484141, ENST00000488032, ENST00000620529, ENST00000870362, ENST00000870363, ENST00000870364, ENST00000917776, ENST00000917777, ENST00000954672, ENST00000954673, ENST00000954674, ENST00000954675, ENST00000954676, ENST00000954677, ENST00000954678, ENST00000954679, ENST00000954680, ENST00000954681
RefSeq mRNA: 9 — MANE Select: NM_006315
NM_001317836, NM_001395245, NM_001395246, NM_001395247, NM_001395248, NM_001395249, NM_001395250, NM_001395251, NM_006315
CCDS: CCDS3339
Canonical transcript exons
ENST00000362003 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001354120 | 730970 | 731110 |
| ENSE00001354124 | 730630 | 730668 |
| ENSE00003495438 | 734931 | 735027 |
| ENSE00003543410 | 733672 | 733789 |
| ENSE00003569995 | 743474 | 743584 |
| ENSE00003580193 | 744600 | 744688 |
| ENSE00003633495 | 761279 | 761416 |
| ENSE00003654200 | 737466 | 737521 |
| ENSE00003669111 | 764984 | 765064 |
| ENSE00003978152 | 705832 | 705970 |
| ENSE00003978153 | 766032 | 770089 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 96.36.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.6190 / max 137.5056, expressed in 1813 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 46515 | 11.7034 | 1803 |
| 46514 | 10.2795 | 1792 |
| 46516 | 0.6173 | 344 |
| 46517 | 0.0123 | 5 |
| 46518 | 0.0065 | 3 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| sural nerve | UBERON:0015488 | 96.36 | gold quality |
| left ovary | UBERON:0002119 | 96.26 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 96.02 | gold quality |
| skin of abdomen | UBERON:0001416 | 95.76 | gold quality |
| skin of leg | UBERON:0001511 | 95.64 | gold quality |
| right ovary | UBERON:0002118 | 95.62 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 95.55 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 95.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 95.22 | gold quality |
| granulocyte | CL:0000094 | 95.21 | gold quality |
| endocervix | UBERON:0000458 | 95.14 | gold quality |
| body of uterus | UBERON:0009853 | 95.14 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 95.12 | gold quality |
| right lung | UBERON:0002167 | 95.06 | gold quality |
| minor salivary gland | UBERON:0001830 | 94.90 | gold quality |
| cortical plate | UBERON:0005343 | 94.89 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 94.86 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 94.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.66 | gold quality |
| ectocervix | UBERON:0012249 | 94.61 | gold quality |
| cerebellum | UBERON:0002037 | 94.54 | gold quality |
| right uterine tube | UBERON:0001302 | 94.49 | gold quality |
| tibia | UBERON:0000979 | 94.48 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 94.48 | gold quality |
| left uterine tube | UBERON:0001303 | 94.32 | gold quality |
| ovary | UBERON:0000992 | 94.30 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 94.22 | gold quality |
| tibial nerve | UBERON:0001323 | 94.21 | gold quality |
| zone of skin | UBERON:0000014 | 94.18 | gold quality |
| spleen | UBERON:0002106 | 94.16 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.57 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
231 targeting PCGF3, 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-432-3P | 100.00 | 67.86 | 705 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| 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-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-1184 | 99.99 | 68.19 | 1458 |
Literature-anchored findings (GeneRIF, showing 3)
- We demonstrate that promoter binding by TRF2 mediates PCGF3 promoter activity, and both the N-terminal and C-terminal domains of TRF2 are necessary for promoter activity. (PMID:29589913)
- PNPT1 and PCGF3 variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study. (PMID:32397904)
- PCGF3 promotes the proliferation and migration of non-small cell lung cancer cells via the PI3K/AKT signaling pathway. (PMID:33485844)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pcgf3 | ENSMUSG00000033623 |
| rattus_norvegicus | Pcgf3 | ENSRNOG00000000062 |
| drosophila_melanogaster | l(3)73Ah | FBGN0002283 |
| caenorhabditis_elegans | WBGENE00008684 |
Paralogs (7): PCGF1 (ENSG00000115289), RNF2 (ENSG00000121481), PCGF6 (ENSG00000156374), BMI1 (ENSG00000168283), PCGF5 (ENSG00000180628), RING1 (ENSG00000204227), PCGF2 (ENSG00000277258)
Protein
Protein identifiers
Polycomb group RING finger protein 3 — Q3KNV8 (reviewed: Q3KNV8)
Alternative names: RING finger protein 3A
All UniProt accessions (7): A0A087WVH5, B5MEC4, C9J3G7, C9JGV3, C9JYD0, Q3KNV8, F2Z3P3
UniProt curated annotations — full annotation on UniProt →
Function. Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A ‘Lys-119’, rendering chromatin heritably changed in its expressibility. Within the PRC1-like complex, regulates RNF2 ubiquitin ligase activity. Plays a redundant role with PCGF5 as part of a PRC1-like complex that mediates monoubiquitination of histone H2A ‘Lys-119’ on the X chromosome and is required for normal silencing of one copy of the X chromosome in XX females.
Subunit / interactions. Component of a PRC1-like complex that contains PCGF3, RNF2 and RYBP. Interacts with CBX6, CBX7 and CBX8. Interacts with BCORL1.
Subcellular location. Nucleus. Nucleoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q3KNV8-1 | 1 | yes |
| Q3KNV8-2 | 2 |
RefSeq proteins (9): NP_001304765, NP_001382174, NP_001382175, NP_001382176, NP_001382177, NP_001382178, NP_001382179, NP_001382180, NP_006306* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001841 | Znf_RING | Domain |
| IPR013083 | Znf_RING/FYVE/PHD | Homologous_superfamily |
| IPR017907 | Znf_RING_CS | Conserved_site |
| IPR032443 | RAWUL | Domain |
| IPR051507 | PcG_RING_finger | Family |
Pfam: PF13923, PF16207
UniProt features (6 total): region of interest 2, chain 1, zinc finger region 1, compositionally biased region 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q3KNV8-F1 | 85.76 | 0.75 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 197 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, TTTGTAG_MIR520D, TATTATA_MIR374, BROWNE_HCMV_INFECTION_16HR_UP, MODULE_503, CCATCCA_MIR432, LI_WILMS_TUMOR_ANAPLASTIC_UP, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, BROWNE_HCMV_INFECTION_24HR_UP, ONKEN_UVEAL_MELANOMA_UP, MODULE_195, GENTILE_UV_RESPONSE_CLUSTER_D2, GENTILE_UV_HIGH_DOSE_DN, chr4p16, MODULE_147
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), random inactivation of X chromosome (GO:0060816)
GO Molecular Function (4): zinc ion binding (GO:0008270), histone H2AK119 ubiquitin ligase activity (GO:0140862), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (6): X chromosome (GO:0000805), nucleus (GO:0005634), nucleoplasm (GO:0005654), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| dosage compensation by inactivation of X chromosome | 1 |
| transition metal ion binding | 1 |
| histone H2A ubiquitin ligase activity | 1 |
| binding | 1 |
| cation binding | 1 |
| sex chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| nuclear protein-containing complex | 1 |
| nuclear ubiquitin ligase complex | 1 |
| PcG protein complex | 1 |
Protein interactions and networks
STRING
964 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCGF3 | RING1 | Q06587 | 981 |
| PCGF3 | ZNRF3 | Q9ULT6 | 968 |
| PCGF3 | RYBP | Q8N488 | 921 |
| PCGF3 | PCGF5 | Q86SE9 | 913 |
| PCGF3 | YAF2 | Q8IY57 | 903 |
| PCGF3 | HNRNPK | P61978 | 843 |
| PCGF3 | PCGF2 | P35227 | 805 |
| PCGF3 | PCGF6 | Q9BYE7 | 777 |
| PCGF3 | PCGF1 | Q9BSM1 | 755 |
| PCGF3 | AUTS2 | Q8WXX7 | 736 |
| PCGF3 | FBRS | Q9HAH7 | 682 |
| PCGF3 | BMI1 | P35226 | 681 |
| PCGF3 | R4GMX3 | R4GMX3 | 681 |
| PCGF3 | RNF2 | Q99496 | 679 |
| PCGF3 | RNF5 | Q99942 | 644 |
IntAct
77 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX8 | BMI1 | psi-mi:“MI:0914”(association) | 0.970 |
| CBX7 | BMI1 | psi-mi:“MI:0914”(association) | 0.940 |
| RYBP | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.900 |
| RYBP | BMI1 | psi-mi:“MI:0914”(association) | 0.850 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| RYBP | E2F6 | psi-mi:“MI:0914”(association) | 0.740 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| DCAF7 | DIAPH1 | psi-mi:“MI:0914”(association) | 0.730 |
| RING1 | PCGF3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| PCGF3 | RNF2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| RNF2 | PCGF3 | psi-mi:“MI:0915”(physical association) | 0.720 |
| CBX8 | PCGF3 | psi-mi:“MI:0915”(physical association) | 0.690 |
| PCGF3 | CBX8 | psi-mi:“MI:0407”(direct interaction) | 0.690 |
| CBX7 | PCGF3 | psi-mi:“MI:0915”(physical association) | 0.660 |
| PCGF3 | CBX7 | psi-mi:“MI:0407”(direct interaction) | 0.660 |
| CSNK2B | RPS6KA5 | psi-mi:“MI:0914”(association) | 0.660 |
| CSNK2B | NMT2 | psi-mi:“MI:0914”(association) | 0.660 |
| RNF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.660 |
| YAF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2B | RPS6KA4 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0914”(association) | 0.590 |
BioGRID (182): PCGF3 (Two-hybrid), PCGF3 (Two-hybrid), BCOR (Two-hybrid), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), RNF2 (Reconstituted Complex), PCGF3 (Biochemical Activity), UBE2D3 (Reconstituted Complex), PCGF3 (Reconstituted Complex), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS), PCGF3 (Affinity Capture-MS)
ESM2 similar proteins: A1A5C7, A6H7A0, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, O43688, O62772, O75147, P0CK96, P35438, P35439, P52875, P57791, Q05586, Q28D01, Q2KJ29, Q3KNV8, Q3SZQ2, Q3UHH2, Q4L208, Q4V899, Q5R1P0, Q5R890, Q5SP67, Q5ZJ75, Q7TPB4, Q86YN1, Q8BTQ0, Q8C6G8, Q8C811, Q8R4D1, Q8VDI9, Q8VE98, Q90812, Q9BWV1, Q9D9E0, Q9H6U8, Q9H7D7
Diamond homologs: A0JN86, B3DK16, P23798, P25916, P35226, P35227, Q07G17, Q0WX00, Q14527, Q1JPS1, Q28H21, Q2KJ29, Q2YDF9, Q32KX7, Q3KNV8, Q3UK78, Q4QR06, Q5R8L2, Q5SDR3, Q5XI70, Q640D5, Q6CJM4, Q6DLV9, Q7T3E6, Q7ZYZ7, Q86SE9, Q8BTQ0, Q8JIR0, Q8R023, Q91648, Q94AY3, Q99NA9, Q9BSM1, Q9BYE7, Q9FKW0, Q9LS86, Q9M9Y4, Q9TST0, O60106, Q19336
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| Ub:E2 | “up-regulates activity” | PCGF3 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 61 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 |
|---|---|---|---|
| SUMOylation of DNA methylation proteins | 6 | 89.6× | 4e-09 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 12 | 80.1× | 3e-18 |
| Transcriptional Regulation by E2F6 | 6 | 39.0× | 5e-07 |
| SUMOylation of transcription cofactors | 7 | 37.8× | 4e-08 |
| SUMOylation of RNA binding proteins | 6 | 31.7× | 1e-06 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 9 | 29.3× | 3e-09 |
| Regulation of PTEN gene transcription | 7 | 27.8× | 3e-07 |
| SUMOylation of chromatin organization proteins | 6 | 21.1× | 2e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 6 | 43.0× | 2e-06 |
| negative regulation of translation | 5 | 17.5× | 8e-04 |
| chromatin remodeling | 6 | 7.8× | 5e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
41 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 26 |
| Likely benign | 0 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3574 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:730625:CGCA:C | acceptor_loss | 1.0000 |
| 4:730626:GCA:G | acceptor_loss | 1.0000 |
| 4:730627:CAGGC:C | acceptor_loss | 1.0000 |
| 4:730628:A:AG | acceptor_gain | 1.0000 |
| 4:730628:AG:A | acceptor_gain | 1.0000 |
| 4:730629:G:GT | acceptor_gain | 1.0000 |
| 4:730629:G:T | acceptor_loss | 1.0000 |
| 4:730629:GG:G | acceptor_gain | 1.0000 |
| 4:730629:GGC:G | acceptor_gain | 1.0000 |
| 4:730629:GGCGT:G | acceptor_gain | 1.0000 |
| 4:730665:TCAGG:T | donor_loss | 1.0000 |
| 4:730666:CAGGT:C | donor_loss | 1.0000 |
| 4:730667:AGG:A | donor_loss | 1.0000 |
| 4:730668:GGTA:G | donor_loss | 1.0000 |
| 4:730669:G:C | donor_loss | 1.0000 |
| 4:730670:T:A | donor_loss | 1.0000 |
| 4:733668:GTA:G | acceptor_loss | 1.0000 |
| 4:733669:TAGAA:T | acceptor_gain | 1.0000 |
| 4:733670:A:AG | acceptor_gain | 1.0000 |
| 4:733670:AGAAG:A | acceptor_gain | 1.0000 |
| 4:733671:G:GT | acceptor_gain | 1.0000 |
| 4:733671:GA:G | acceptor_gain | 1.0000 |
| 4:733671:GAA:G | acceptor_gain | 1.0000 |
| 4:733671:GAAGC:G | acceptor_gain | 1.0000 |
| 4:733790:G:GG | donor_gain | 1.0000 |
| 4:733816:G:GT | donor_gain | 1.0000 |
| 4:733817:G:T | donor_gain | 1.0000 |
| 4:737464:A:AG | acceptor_gain | 1.0000 |
| 4:737465:G:GA | acceptor_gain | 1.0000 |
| 4:737465:GTC:G | acceptor_gain | 1.0000 |
AlphaMissense
1616 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:733724:T:A | I15N | 1.000 |
| 4:733729:T:A | C17S | 1.000 |
| 4:733729:T:C | C17R | 1.000 |
| 4:733730:G:A | C17Y | 1.000 |
| 4:733730:G:C | C17S | 1.000 |
| 4:733730:G:T | C17F | 1.000 |
| 4:733731:C:G | C17W | 1.000 |
| 4:733738:T:A | C20S | 1.000 |
| 4:733738:T:C | C20R | 1.000 |
| 4:733739:G:A | C20Y | 1.000 |
| 4:733739:G:C | C20S | 1.000 |
| 4:733739:G:T | C20F | 1.000 |
| 4:733740:C:G | C20W | 1.000 |
| 4:733744:G:T | G22W | 1.000 |
| 4:733745:G:A | G22E | 1.000 |
| 4:733745:G:T | G22V | 1.000 |
| 4:733747:T:C | Y23H | 1.000 |
| 4:733751:T:C | L24P | 1.000 |
| 4:733760:C:A | A27D | 1.000 |
| 4:733766:C:A | T29K | 1.000 |
| 4:733769:T:A | V30E | 1.000 |
| 4:733774:G:A | E32K | 1.000 |
| 4:733775:A:T | E32V | 1.000 |
| 4:733777:T:A | C33S | 1.000 |
| 4:733777:T:C | C33R | 1.000 |
| 4:733778:G:A | C33Y | 1.000 |
| 4:733778:G:C | C33S | 1.000 |
| 4:733778:G:T | C33F | 1.000 |
| 4:733779:T:G | C33W | 1.000 |
| 4:733781:T:A | L34Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000006109 (4:769010 G>A), RS1000045520 (4:717673 C>T), RS1000049992 (4:737412 A>G), RS1000074377 (4:769577 G>A,C,T), RS1000213127 (4:748701 C>G,T), RS1000224039 (4:735609 C>G), RS1000277082 (4:767584 C>G,T), RS1000324774 (4:704887 C>G,T), RS1000413032 (4:733321 T>G), RS10004172 (4:739433 C>A,G), RS1000431285 (4:764667 C>A,T), RS1000436839 (4:733519 A>G), RS1000468389 (4:720148 G>A,C,T), RS1000468936 (4:752561 G>A), RS1000493017 (4:750380 A>G)
Disease associations
OMIM: gene MIM:617543 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
25 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001378_6 | Hemostatic factors and hematological phenotypes | 6.000000e-06 |
| GCST004608_83 | Granulocyte percentage of myeloid white cells | 2.000000e-11 |
| GCST004609_120 | Monocyte percentage of white cells | 2.000000e-10 |
| GCST004610_64 | White blood cell count | 5.000000e-09 |
| GCST004613_103 | Sum neutrophil eosinophil counts | 4.000000e-11 |
| GCST004614_144 | Granulocyte count | 7.000000e-11 |
| GCST004620_140 | Sum basophil neutrophil counts | 2.000000e-11 |
| GCST004626_32 | Myeloid white cell count | 1.000000e-09 |
| GCST004629_56 | Neutrophil count | 1.000000e-11 |
| GCST004865_73 | Itch intensity from mosquito bite adjusted by bite size | 7.000000e-06 |
| GCST005316_146 | Intelligence (MTAG) | 1.000000e-08 |
| GCST006269_1225 | General cognitive ability | 5.000000e-08 |
| GCST006979_315 | Heel bone mineral density | 6.000000e-17 |
| GCST009379_150 | Type 2 diabetes | 8.000000e-06 |
| GCST009379_151 | Type 2 diabetes | 4.000000e-14 |
| GCST009379_152 | Type 2 diabetes | 4.000000e-07 |
| GCST010118_34 | Type 2 diabetes | 3.000000e-16 |
| GCST011769_12 | Schizophrenia | 2.000000e-09 |
| GCST90000025_251 | Appendicular lean mass | 3.000000e-10 |
| GCST90002394_268 | Monocyte percentage of white cells | 5.000000e-28 |
| GCST90002398_441 | Neutrophil count | 8.000000e-28 |
| GCST90002399_411 | Neutrophil percentage of white cells | 4.000000e-17 |
| GCST90002407_421 | White blood cell count | 6.000000e-22 |
| GCST90020025_1039 | Waist-to-hip ratio adjusted for BMI | 2.000000e-08 |
| GCST90020027_1862 | Waist-hip index | 2.000000e-08 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004503 | hematological measurement |
| EFO:0004637 | protein S measurement |
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0007989 | monocyte percentage of leukocytes |
| EFO:0004833 | neutrophil count |
| EFO:0004842 | eosinophil count |
| EFO:0007987 | granulocyte count |
| EFO:0005090 | basophil count |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0004337 | intelligence |
| EFO:0009270 | heel bone mineral density |
| EFO:0004980 | appendicular lean mass |
| EFO:0007990 | neutrophil percentage of leukocytes |
| 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 |
|---|---|---|---|---|---|
| rs1044147 | PCGF3 | 0.00 | 0 |
CTD chemical–gene interactions
22 total (human), top 22 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Arsenic | affects methylation, affects cotreatment, decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | affects methylation | 2 |
| Valproic Acid | decreases expression, increases methylation | 2 |
| Aflatoxin B1 | decreases methylation, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| trichostatin A | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression, increases abundance, affects cotreatment | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| monomethylarsonous acid | increases expression | 1 |
| Bortezomib | increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation | 1 |
| Atrazine | increases expression | 1 |
| Folic Acid | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Antirheumatic Agents | decreases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E2G9 | HAP1 PCGF3 (-) | Cancer cell line | Male |
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): type 2 diabetes mellitus