PCGF5
gene geneOn this page
Also known as MGC16202
Summary
PCGF5 (polycomb group ring finger 5, HGNC:28264) is a protein-coding gene on chromosome 10q23.32, encoding Polycomb group RING finger protein 5 (Q86SE9). 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.
Predicted to enable histone H2AK119 ubiquitin ligase activity. Acts upstream of or within positive regulation of transcription by RNA polymerase II. Located in Golgi apparatus; centrosome; and nucleoplasm. Part of PcG protein complex.
Source: NCBI Gene 84333 — RefSeq curated summary.
At a glance
- GWAS associations: 11
- Clinical variants (ClinVar): 32 total
- MANE Select transcript:
NM_032373
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28264 |
| Approved symbol | PCGF5 |
| Name | polycomb group ring finger 5 |
| Location | 10q23.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC16202 |
| Ensembl gene | ENSG00000180628 |
| Ensembl biotype | protein_coding |
| OMIM | 617407 |
| Entrez | 84333 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 22 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000336126, ENST00000490164, ENST00000496708, ENST00000543648, ENST00000614189, ENST00000888206, ENST00000888207, ENST00000888208, ENST00000888209, ENST00000888210, ENST00000888211, ENST00000888212, ENST00000888213, ENST00000888214, ENST00000888215, ENST00000888216, ENST00000888217, ENST00000888218, ENST00000888219, ENST00000888220, ENST00000888221, ENST00000942712, ENST00000942713, ENST00000942714
RefSeq mRNA: 3 — MANE Select: NM_032373
NM_001256549, NM_001257101, NM_032373
CCDS: CCDS7413
Canonical transcript exons
ENST00000336126 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001338260 | 91271638 | 91271697 |
| ENSE00001338263 | 91264431 | 91264520 |
| ENSE00001338266 | 91261326 | 91261424 |
| ENSE00001338268 | 91251292 | 91251440 |
| ENSE00001338271 | 91248665 | 91248724 |
| ENSE00001338274 | 91248505 | 91248560 |
| ENSE00001338277 | 91240484 | 91240580 |
| ENSE00001403390 | 91278269 | 91284337 |
| ENSE00001931090 | 91220663 | 91220836 |
| ENSE00003478992 | 91222689 | 91222983 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 97.75.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.3806 / max 1485.3660, expressed in 1817 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 106203 | 15.8312 | 1705 |
| 106209 | 13.0471 | 1754 |
| 106211 | 7.1670 | 1373 |
| 106208 | 2.5655 | 1307 |
| 106201 | 2.0878 | 906 |
| 106202 | 1.2903 | 639 |
| 106204 | 0.2679 | 59 |
| 106207 | 0.1026 | 25 |
| 106206 | 0.0212 | 6 |
Top tissues by expression
256 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cardiac muscle of right atrium | UBERON:0003379 | 97.75 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 97.62 | gold quality |
| blood | UBERON:0000178 | 96.87 | gold quality |
| myocardium | UBERON:0002349 | 96.68 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 96.51 | gold quality |
| upper arm skin | UBERON:0004263 | 96.49 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 96.40 | gold quality |
| saphenous vein | UBERON:0007318 | 96.31 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 96.19 | gold quality |
| monocyte | CL:0000576 | 96.09 | gold quality |
| medulla oblongata | UBERON:0001896 | 96.05 | gold quality |
| oocyte | CL:0000023 | 96.03 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 95.98 | gold quality |
| leukocyte | CL:0000738 | 95.93 | gold quality |
| urethra | UBERON:0000057 | 95.85 | gold quality |
| globus pallidus | UBERON:0001875 | 95.66 | gold quality |
| medial globus pallidus | UBERON:0002477 | 95.60 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 95.59 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 95.42 | gold quality |
| sperm | CL:0000019 | 95.22 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.18 | gold quality |
| deltoid | UBERON:0001476 | 95.09 | gold quality |
| tibialis anterior | UBERON:0001385 | 95.02 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 95.02 | gold quality |
| gastrocnemius | UBERON:0001388 | 95.00 | gold quality |
| pons | UBERON:0000988 | 94.93 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 94.85 | gold quality |
| muscle of leg | UBERON:0001383 | 94.84 | gold quality |
| renal medulla | UBERON:0000362 | 94.76 | gold quality |
| adrenal tissue | UBERON:0018303 | 94.76 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-13 | yes | 7.84 |
| E-MTAB-9388 | yes | 7.57 |
| E-HCAD-10 | yes | 4.17 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
264 targeting PCGF5, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| 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-1277-5P | 100.00 | 73.95 | 5056 |
| 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-574-5P | 100.00 | 66.01 | 989 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | pcgf5b | ENSDARG00000052388 |
| mus_musculus | Pcgf5 | ENSMUSG00000024805 |
| rattus_norvegicus | Pcgf5 | ENSRNOG00000018532 |
| drosophila_melanogaster | Psc | FBGN0005624 |
| drosophila_melanogaster | Su(z)2 | FBGN0265623 |
Paralogs (7): PCGF1 (ENSG00000115289), RNF2 (ENSG00000121481), PCGF6 (ENSG00000156374), BMI1 (ENSG00000168283), PCGF3 (ENSG00000185619), RING1 (ENSG00000204227), PCGF2 (ENSG00000277258)
Protein
Protein identifiers
Polycomb group RING finger protein 5 — Q86SE9 (reviewed: Q86SE9)
Alternative names: RING finger protein 159
All UniProt accessions (1): Q86SE9
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 PCGF3 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 PCGF5, RNF2 and UBE2D3. Interacts with RNF2; the interaction is direct. Interacts with CBX6, CBX7 and CBX8. Interacts with AUTS2; the interaction is direct. Identified in a complex that contains AUTS2, PCGF5, CSNK2B and RNF2.
Subcellular location. Nucleus. Nucleoplasm.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86SE9-1 | 1 | yes |
| Q86SE9-2 | 2 |
RefSeq proteins (3): NP_001243478, NP_001244030, NP_115749* (*=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 (21 total): helix 6, strand 4, turn 4, compositionally biased region 2, splice variant 2, chain 1, zinc finger region 1, region of interest 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4S3O | X-RAY DIFFRACTION | 2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86SE9-F1 | 81.17 | 0.59 |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
MSigDB gene sets: 274 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, BENPORATH_ES_WITH_H3K27ME3, GGTGTGT_MIR329, MYOGENIN_Q6, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOZGIT_ESR1_TARGETS_DN, GTCTACC_MIR379, GGGTGGRR_PAX4_03, IWANAGA_E2F1_TARGETS_INDUCED_BY_SERUM, GOCC_MICROTUBULE_ORGANIZING_CENTER, IRF7_01, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, FOSTER_TOLERANT_MACROPHAGE_UP, KOYAMA_SEMA3B_TARGETS_UP, GOCC_CENTROSOME
GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), positive regulation of transcription by RNA polymerase II (GO:0045944), random inactivation of X chromosome (GO:0060816), regulation of gene expression (GO:0010468)
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 (7): X chromosome (GO:0000805), nucleus (GO:0005634), nucleoplasm (GO:0005654), Golgi apparatus (GO:0005794), centrosome (GO:0005813), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by RUNX1 | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transcription by RNA polymerase II | 2 |
| intracellular membrane-bounded organelle | 2 |
| regulation of DNA-templated transcription | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| positive regulation of DNA-templated transcription | 1 |
| dosage compensation by inactivation of X chromosome | 1 |
| gene expression | 1 |
| regulation of macromolecule biosynthetic process | 1 |
| transition metal ion binding | 1 |
| histone H2A ubiquitin ligase activity | 1 |
| binding | 1 |
| cation binding | 1 |
| sex chromosome | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| cytoplasm | 1 |
| endomembrane system | 1 |
| centriole | 1 |
| microtubule organizing center | 1 |
| nuclear protein-containing complex | 1 |
| nuclear ubiquitin ligase complex | 1 |
| PcG protein complex | 1 |
Protein interactions and networks
STRING
882 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PCGF5 | RYBP | Q8N488 | 952 |
| PCGF5 | RING1 | Q06587 | 927 |
| PCGF5 | PCGF3 | Q3KNV8 | 913 |
| PCGF5 | YAF2 | Q8IY57 | 862 |
| PCGF5 | AUTS2 | Q8WXX7 | 812 |
| PCGF5 | PCGF2 | P35227 | 809 |
| PCGF5 | PCGF1 | Q9BSM1 | 789 |
| PCGF5 | RNF2 | Q99496 | 774 |
| PCGF5 | BMI1 | P35226 | 682 |
| PCGF5 | R4GMX3 | R4GMX3 | 681 |
| PCGF5 | FBRS | Q9HAH7 | 679 |
| PCGF5 | PCGF6 | Q9BYE7 | 646 |
| PCGF5 | PHC1 | P78364 | 621 |
| PCGF5 | FBRSL1 | Q9HCM7 | 610 |
| PCGF5 | A0A087WY85 | A0A087WY85 | 599 |
IntAct
109 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CBX8 | BMI1 | psi-mi:“MI:0914”(association) | 0.970 |
| RYBP | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.900 |
| RNF2 | PCGF5 | psi-mi:“MI:0914”(association) | 0.890 |
| PCGF5 | RNF2 | psi-mi:“MI:0915”(physical association) | 0.890 |
| PCGF5 | CSNK2A2 | psi-mi:“MI:0914”(association) | 0.880 |
| RING1 | PCGF5 | psi-mi:“MI:0915”(physical association) | 0.860 |
| PCGF5 | RING1 | psi-mi:“MI:0915”(physical association) | 0.860 |
| AUTS2 | PCGF5 | psi-mi:“MI:0915”(physical association) | 0.790 |
| AUTS2 | PCGF5 | psi-mi:“MI:0914”(association) | 0.790 |
| PCGF5 | AUTS2 | psi-mi:“MI:0914”(association) | 0.790 |
| CSNK2A2 | EIF3J | psi-mi:“MI:0914”(association) | 0.790 |
| AUTS2 | CSNK2B | psi-mi:“MI:0914”(association) | 0.760 |
| 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 |
| PCGF5 | CBX8 | psi-mi:“MI:0407”(direct interaction) | 0.720 |
| 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 |
| CSNK2A2 | PES1 | psi-mi:“MI:0914”(association) | 0.640 |
| CSNK2A1 | SURF6 | psi-mi:“MI:0914”(association) | 0.590 |
| DCAF7 | PFDN6 | psi-mi:“MI:0914”(association) | 0.570 |
BioGRID (211): PCGF5 (Two-hybrid), PCGF5 (Two-hybrid), PCGF5 (Two-hybrid), PCGF5 (Affinity Capture-MS), PCGF5 (Affinity Capture-MS), AUTS2 (Affinity Capture-MS), RYBP (Affinity Capture-MS), FBRS (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), CSNK2A1 (Affinity Capture-MS), CSNK2B (Affinity Capture-MS), RNF2 (Affinity Capture-MS), RING1 (Affinity Capture-MS), YAF2 (Affinity Capture-MS), PCGF5 (Affinity Capture-MS)
ESM2 similar proteins: A0JN86, A2AHJ4, A2APV2, A2AQW0, A9JRL3, B3DK16, O08874, O35099, P0CF52, P19447, P23798, P25916, P32866, P35226, P35227, P49135, Q07139, Q1JPS1, Q1RMT1, Q21029, Q28H21, Q2YDF9, Q32KX7, Q3UK78, Q4QR06, Q5R8L2, Q5RA62, Q5SDR3, Q5ZKK7, Q640D5, Q6DD21, Q6DLV9, Q6GN16, Q6RI45, Q6ZN16, Q7T3E6, Q7Z569, Q7ZYZ7, Q86SE9, Q8BPM2
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” | PCGF5 | ubiquitination |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 103 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 | 65.0× | 4e-08 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 13 | 63.0× | 2e-18 |
| Transcriptional Regulation by E2F6 | 6 | 28.3× | 3e-06 |
| SUMOylation of transcription cofactors | 7 | 27.4× | 6e-07 |
| SUMOylation of RNA binding proteins | 6 | 23.0× | 9e-06 |
| Regulation of PTEN gene transcription | 7 | 20.1× | 3e-06 |
| Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) | 8 | 18.9× | 7e-07 |
| Transcriptional regulation by RUNX1 | 7 | 16.5× | 9e-06 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| negative regulation of proteasomal ubiquitin-dependent protein catabolic process | 5 | 23.3× | 6e-04 |
| negative regulation of translation | 6 | 13.7× | 8e-04 |
| double-strand break repair | 5 | 11.8× | 3e-03 |
| chromatin remodeling | 9 | 7.6× | 6e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
32 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 17 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2158 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:91222669:T:TA | acceptor_gain | 1.0000 |
| 10:91222672:AAT:A | acceptor_gain | 1.0000 |
| 10:91222674:T:G | acceptor_gain | 1.0000 |
| 10:91222674:T:TA | acceptor_gain | 1.0000 |
| 10:91240482:A:AG | acceptor_gain | 1.0000 |
| 10:91240482:AGTCT:A | acceptor_gain | 1.0000 |
| 10:91240483:G:GG | acceptor_gain | 1.0000 |
| 10:91240483:GT:G | acceptor_gain | 1.0000 |
| 10:91240483:GTCT:G | acceptor_gain | 1.0000 |
| 10:91240483:GTCTG:G | acceptor_gain | 1.0000 |
| 10:91240581:GT:G | donor_loss | 1.0000 |
| 10:91240582:T:G | donor_loss | 1.0000 |
| 10:91248557:GAAC:G | donor_gain | 1.0000 |
| 10:91248561:G:GG | donor_gain | 1.0000 |
| 10:91248658:A:AG | acceptor_gain | 1.0000 |
| 10:91248659:A:G | acceptor_gain | 1.0000 |
| 10:91248663:A:AG | acceptor_gain | 1.0000 |
| 10:91248664:G:GG | acceptor_gain | 1.0000 |
| 10:91251281:A:AG | acceptor_gain | 1.0000 |
| 10:91251284:T:G | acceptor_gain | 1.0000 |
| 10:91251286:A:AG | acceptor_gain | 1.0000 |
| 10:91251287:T:G | acceptor_gain | 1.0000 |
| 10:91251287:TACA:T | acceptor_loss | 1.0000 |
| 10:91251288:A:AG | acceptor_gain | 1.0000 |
| 10:91251288:ACAG:A | acceptor_loss | 1.0000 |
| 10:91251289:C:G | acceptor_gain | 1.0000 |
| 10:91251289:CA:C | acceptor_loss | 1.0000 |
| 10:91251290:A:AG | acceptor_gain | 1.0000 |
| 10:91251290:AGAT:A | acceptor_gain | 1.0000 |
| 10:91251290:AGATG:A | acceptor_loss | 1.0000 |
AlphaMissense
1701 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:91222923:T:A | C18S | 1.000 |
| 10:91222923:T:C | C18R | 1.000 |
| 10:91222924:G:A | C18Y | 1.000 |
| 10:91222924:G:C | C18S | 1.000 |
| 10:91222924:G:T | C18F | 1.000 |
| 10:91222925:C:G | C18W | 1.000 |
| 10:91222932:T:A | C21S | 1.000 |
| 10:91222932:T:C | C21R | 1.000 |
| 10:91222933:G:A | C21Y | 1.000 |
| 10:91222933:G:C | C21S | 1.000 |
| 10:91222933:G:T | C21F | 1.000 |
| 10:91222934:T:G | C21W | 1.000 |
| 10:91222945:T:C | L25P | 1.000 |
| 10:91222954:C:A | P28Q | 1.000 |
| 10:91222971:T:A | C34S | 1.000 |
| 10:91222971:T:C | C34R | 1.000 |
| 10:91222972:G:A | C34Y | 1.000 |
| 10:91222972:G:C | C34S | 1.000 |
| 10:91222972:G:T | C34F | 1.000 |
| 10:91222973:C:G | C34W | 1.000 |
| 10:91222975:T:C | L35P | 1.000 |
| 10:91222977:C:A | H36N | 1.000 |
| 10:91222979:T:A | H36Q | 1.000 |
| 10:91222979:T:G | H36Q | 1.000 |
| 10:91222983:T:C | F38L | 1.000 |
| 10:91240485:C:A | F38L | 1.000 |
| 10:91240485:C:G | F38L | 1.000 |
| 10:91240486:T:A | C39S | 1.000 |
| 10:91240486:T:C | C39R | 1.000 |
| 10:91240487:G:A | C39Y | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000042029 (10:91250399 G>A), RS1000044383 (10:91202441 G>A), RS1000100806 (10:91163317 G>A,C,T), RS1000102663 (10:91253485 G>A,T), RS1000117652 (10:91200955 G>A), RS1000140083 (10:91249954 T>A), RS1000178390 (10:91184864 G>A), RS1000244371 (10:91169385 TCAA>T), RS1000256858 (10:91235912 T>C), RS1000289111 (10:91154229 T>G), RS1000311419 (10:91219145 T>C), RS1000315009 (10:91228850 G>T), RS1000322293 (10:91219450 C>T), RS1000359784 (10:91198882 C>G), RS1000365614 (10:91175965 G>T)
Disease associations
OMIM: gene MIM:617407 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
11 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST007576_111 | Chronotype | 2.000000e-08 |
| GCST008163_487 | Height | 1.000000e-06 |
| GCST010988_446 | Adult body size | 2.000000e-08 |
| GCST90000025_447 | Appendicular lean mass | 8.000000e-13 |
| GCST90020028_88 | Hip circumference adjusted for BMI | 5.000000e-13 |
| GCST90020028_89 | Hip circumference adjusted for BMI | 4.000000e-13 |
| GCST90020028_90 | Hip circumference adjusted for BMI | 8.000000e-09 |
| GCST90020028_91 | Hip circumference adjusted for BMI | 6.000000e-09 |
| GCST90020028_92 | Hip circumference adjusted for BMI | 2.000000e-10 |
| GCST90020028_93 | Hip circumference adjusted for BMI | 3.000000e-09 |
| GCST90020029_135 | Waist circumference adjusted for body mass index | 3.000000e-08 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008328 | chronotype measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
43 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 8 |
| sodium arsenite | increases abundance, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| bisphenol A | affects expression | 1 |
| trichostatin A | increases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| N-butyrylglucosamine | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | increases methylation | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Demecolcine | decreases expression | 1 |
| Diethylhexyl Phthalate | increases expression | 1 |
| Succimer | affects cotreatment, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | 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_E2GA | HAP1 PCGF5 (-) | 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.