PHC3
gene geneOn this page
Also known as EDR3FLJ12967FLJ12729HPH3
Summary
PHC3 (polyhomeotic homolog 3, HGNC:15682) is a protein-coding gene on chromosome 3q26.2, encoding Polyhomeotic-like protein 3 (Q8NDX5). 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 chromatin binding activity and histone binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Located in nucleoplasm. Part of PRC1 complex.
Source: NCBI Gene 80012 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 142 total
- MANE Select transcript:
NM_024947
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:15682 |
| Approved symbol | PHC3 |
| Name | polyhomeotic homolog 3 |
| Location | 3q26.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | EDR3, FLJ12967, FLJ12729, HPH3 |
| Ensembl gene | ENSG00000173889 |
| Ensembl biotype | protein_coding |
| OMIM | 620031 |
| Entrez | 80012 |
Gene structure
Transcript identifiers
Ensembl transcripts: 27 — 19 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay
ENST00000465896, ENST00000466189, ENST00000467570, ENST00000472330, ENST00000474275, ENST00000475729, ENST00000479467, ENST00000481639, ENST00000484068, ENST00000484931, ENST00000486042, ENST00000490723, ENST00000491258, ENST00000494943, ENST00000495893, ENST00000497171, ENST00000497658, ENST00000867751, ENST00000867752, ENST00000867753, ENST00000867754, ENST00000867755, ENST00000867756, ENST00000867757, ENST00000928396, ENST00000928397, ENST00000941895
RefSeq mRNA: 2 — MANE Select: NM_024947
NM_001308116, NM_024947
CCDS: CCDS46952, CCDS77858
Canonical transcript exons
ENST00000495893 — 15 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002227639 | 170113360 | 170113519 |
| ENSE00002241390 | 170106832 | 170106946 |
| ENSE00002243521 | 170102479 | 170102710 |
| ENSE00002269791 | 170128684 | 170129552 |
| ENSE00002281323 | 170102802 | 170102934 |
| ENSE00002305973 | 170117226 | 170117476 |
| ENSE00002306248 | 170122591 | 170122744 |
| ENSE00002316460 | 170136419 | 170136665 |
| ENSE00003510300 | 170178773 | 170178938 |
| ENSE00003531803 | 170087584 | 170097384 |
| ENSE00003546586 | 170172557 | 170172712 |
| ENSE00003582206 | 170181702 | 170181733 |
| ENSE00003610337 | 170149086 | 170149244 |
| ENSE00003654096 | 170145423 | 170145521 |
| ENSE00003669159 | 170171373 | 170171450 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 98.62.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.3076 / max 246.7688, expressed in 1801 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 45548 | 22.1772 | 1801 |
| 203020 | 0.1304 | 51 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.62 | gold quality |
| tibia | UBERON:0000979 | 97.70 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 97.67 | gold quality |
| calcaneal tendon | UBERON:0003701 | 97.42 | gold quality |
| colonic epithelium | UBERON:0000397 | 97.34 | gold quality |
| visceral pleura | UBERON:0002401 | 97.15 | gold quality |
| parietal pleura | UBERON:0002400 | 97.11 | gold quality |
| superficial temporal artery | UBERON:0001614 | 96.46 | gold quality |
| urethra | UBERON:0000057 | 96.28 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.27 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.21 | gold quality |
| epithelium of nasopharynx | UBERON:0001951 | 96.09 | gold quality |
| caput epididymis | UBERON:0004358 | 96.05 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 95.74 | gold quality |
| pleura | UBERON:0000977 | 95.61 | gold quality |
| skin of hip | UBERON:0001554 | 95.59 | gold quality |
| upper leg skin | UBERON:0004262 | 95.54 | gold quality |
| cauda epididymis | UBERON:0004360 | 95.50 | gold quality |
| corpus epididymis | UBERON:0004359 | 95.26 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 95.16 | gold quality |
| sural nerve | UBERON:0015488 | 95.15 | gold quality |
| bronchial epithelial cell | CL:0002328 | 95.09 | gold quality |
| corpus callosum | UBERON:0002336 | 95.05 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.99 | gold quality |
| pylorus | UBERON:0001166 | 94.90 | gold quality |
| cardia of stomach | UBERON:0001162 | 94.86 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 94.84 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.83 | gold quality |
| tendon | UBERON:0000043 | 94.68 | gold quality |
| jejunum | UBERON:0002115 | 94.43 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 9.21 |
| E-GEOD-110499 | no | 2477.41 |
| E-MTAB-7606 | no | 1081.26 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
428 targeting PHC3, 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-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| 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-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-6851-5P | 100.00 | 65.63 | 1294 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3689D | 100.00 | 66.14 | 1181 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
Literature-anchored findings (GeneRIF, showing 6)
- loss of PHC3 may favor tumorigenesis by potentially disrupting the ability of cells to remain in G(0) (PMID:17001316)
- PHC3 is a tumor suppressor in osteosarcoma cells abd its suppression may be caused by modification of polycomb repressive complex 1 in cancer cells. (PMID:20491773)
- SAM linker controls PHC3 SAM polymerization (PMID:22724443)
- PHC3 amplification may emerge as a biomarker in cancer. (PMID:23942079)
- Data show that polycomb-group proteins BMI1, PHC3, CBX6 and CBX7 expression was significantly increased during imatinib treatment. (PMID:26343356)
- Expression of circ-PHC3 enhances ovarian cancer progression via regulation of the miR-497-5p/SOX9 pathway. (PMID:37468993)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | phc2b | ENSDARG00000013224 |
| danio_rerio | phc2a | ENSDARG00000056695 |
| mus_musculus | Phc3 | ENSMUSG00000037652 |
| rattus_norvegicus | Phc3 | ENSRNOG00000009491 |
| drosophila_melanogaster | ph-d | FBGN0004860 |
| drosophila_melanogaster | ph-p | FBGN0004861 |
Paralogs (18): SCMH1 (ENSG00000010803), MBTD1 (ENSG00000011258), SCML1 (ENSG00000047634), L3MBTL2 (ENSG00000100395), SCML2 (ENSG00000102098), PHC1 (ENSG00000111752), THAP10 (ENSG00000129028), PHC2 (ENSG00000134686), SAMD1 (ENSG00000141858), SCML4 (ENSG00000146285), L3MBTL4 (ENSG00000154655), SFMBT1 (ENSG00000163935), L3MBTL1 (ENSG00000185513), SAMD7 (ENSG00000187033), SAMD11 (ENSG00000187634), SFMBT2 (ENSG00000198879), L3MBTL3 (ENSG00000198945), SAMD13 (ENSG00000203943)
Protein
Protein identifiers
Polyhomeotic-like protein 3 — Q8NDX5 (reviewed: Q8NDX5)
Alternative names: Early development regulatory protein 3, Homolog of polyhomeotic 3
All UniProt accessions (9): Q8NDX5, B4DTC4, C9J6H0, C9JAU4, C9JYH7, F8WDA4, G5E9U7, H7C4H9, H7C528
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.
Subunit / interactions. Component of a PRC1-like complex.
Subcellular location. Nucleus.
Miscellaneous. The hPRC-H complex purification reported by PubMed:12167701 probably presents a mixture of different PRC1-like complexes.
Isoforms (7)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8NDX5-1 | 1 | yes |
| Q8NDX5-2 | 2 | |
| Q8NDX5-3 | 3 | |
| Q8NDX5-4 | 4 | |
| Q8NDX5-5 | 5 | |
| Q8NDX5-6 | 6 | |
| Q8NDX5-7 | 7 |
RefSeq proteins (2): NP_001295045, NP_079223* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001660 | SAM | Domain |
| IPR012313 | Znf_FCS | Domain |
| IPR013761 | SAM/pointed_sf | Homologous_superfamily |
| IPR038603 | Znf_FCS_sf | Homologous_superfamily |
| IPR050548 | PcG_chromatin_remod_factors | Family |
Pfam: PF00536, PF21319
UniProt features (59 total): compositionally biased region 11, region of interest 9, splice variant 9, modified residue 8, helix 6, binding site 4, sequence conflict 4, cross-link 3, chain 1, domain 1, short sequence motif 1, zinc finger region 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4PZO | X-RAY DIFFRACTION | 2.25 |
| 4PZN | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8NDX5-F1 | 50.50 | 0.11 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (4): 785; 788; 804; 808
Post-translational modifications (11): 263, 272, 315, 609, 614, 616, 761, 762, 691, 732, 810
Function
Pathways and Gene Ontology
Reactome pathways
10 pathways
| ID | Pathway |
|---|---|
| R-HSA-2559580 | Oxidative Stress Induced Senescence |
| R-HSA-3108214 | SUMOylation of DNA damage response and repair proteins |
| R-HSA-3899300 | SUMOylation of transcription cofactors |
| R-HSA-4551638 | SUMOylation of chromatin organization proteins |
| R-HSA-4570464 | SUMOylation of RNA binding proteins |
| R-HSA-4655427 | SUMOylation of DNA methylation proteins |
| R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
| R-HSA-8943724 | Regulation of PTEN gene transcription |
| R-HSA-8953750 | Transcriptional Regulation by E2F6 |
| R-HSA-9976102 | Differentiation of naive CD4+ T cells to T helper 2 cells (Th2 cells) |
MSigDB gene sets: 261 (showing top):
chr3q26, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC, YY1_02, USF_01, DING_LUNG_CANCER_EXPRESSION_BY_COPY_NUMBER, GOCC_NUCLEAR_UBIQUITIN_LIGASE_COMPLEX, P300_01, GOBP_CHROMATIN_REMODELING, GOBP_HETEROCHROMATIN_ORGANIZATION, GOBP_EPIGENETIC_REGULATION_OF_GENE_EXPRESSION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOMF_CHROMATIN_BINDING, GOCC_TRANSFERASE_COMPLEX, GOCC_PCG_PROTEIN_COMPLEX, GOCC_PRC1_COMPLEX
GO Biological Process (1): negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (6): DNA binding (GO:0003677), chromatin binding (GO:0003682), zinc ion binding (GO:0008270), histone binding (GO:0042393), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), PcG protein complex (GO:0031519), PRC1 complex (GO:0035102)
Reactome top-level categories
Rollup of top-6 pathways:
| Category | Pathways |
|---|---|
| SUMO E3 ligases SUMOylate target proteins | 5 |
| Cellular Senescence | 1 |
| Transcriptional regulation by RUNX1 | 1 |
| PTEN Regulation | 1 |
| Generic Transcription Pathway | 1 |
| Differentiation of T cells | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 2 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| nucleic acid binding | 1 |
| transition metal ion binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cellular anatomical structure | 1 |
| nuclear protein-containing complex | 1 |
| nuclear ubiquitin ligase complex | 1 |
| PcG protein complex | 1 |
Protein interactions and networks
STRING
1194 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PHC3 | CBX8 | Q9HC52 | 921 |
| PHC3 | CBX2 | Q14781 | 903 |
| PHC3 | P4HTM | Q9NXG6 | 825 |
| PHC3 | CBX4 | O00257 | 800 |
| PHC3 | H3C14 | Q71DI3 | 797 |
| PHC3 | H3-5 | Q6NXT2 | 797 |
| PHC3 | H3-4 | Q16695 | 797 |
| PHC3 | H3-7 | Q5TEC6 | 797 |
| PHC3 | CBX6 | O95503 | 796 |
| PHC3 | H3-3A | P06351 | 794 |
| PHC3 | H3C1 | P02295 | 794 |
| PHC3 | PHC1 | P78364 | 788 |
| PHC3 | CLIC2 | O15247 | 749 |
| PHC3 | RING1 | Q06587 | 744 |
| PHC3 | PAX6 | P26367 | 735 |
IntAct
67 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 |
| BMI1 | CBX4 | psi-mi:“MI:0914”(association) | 0.900 |
| PCGF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.840 |
| PHC1 | CBX4 | psi-mi:“MI:0914”(association) | 0.790 |
| RING1 | CBX4 | psi-mi:“MI:0914”(association) | 0.730 |
| RNF2 | E2F6 | psi-mi:“MI:0914”(association) | 0.730 |
| CBX8 | CBX4 | psi-mi:“MI:0914”(association) | 0.670 |
| RNF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.660 |
| OGT | PHC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PHC3 | OGT | psi-mi:“MI:0915”(physical association) | 0.560 |
| CBX6 | PABPC1 | psi-mi:“MI:0914”(association) | 0.530 |
| FHL2 | CNOT1 | psi-mi:“MI:0914”(association) | 0.530 |
| BAG2 | HGS | psi-mi:“MI:0914”(association) | 0.530 |
| CBX6 | RPS3 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (157): PHC3 (Two-hybrid), PHC3 (Protein-peptide), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS), PHC3 (Affinity Capture-MS)
ESM2 similar proteins: A0JME2, A2AUY4, D3ZKB9, D4A666, E1B7L7, F1QZ88, F6NSX9, F8VPJ6, P59759, P78364, Q08CM4, Q0IHV2, Q15723, Q2IBE6, Q2IBF7, Q2QLB3, Q3TUF7, Q4G0F8, Q5DTH5, Q5U4Q0, Q5ZIE8, Q5ZM88, Q63HK5, Q641Z1, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZSZ6, Q6ZU65, Q76L83, Q7ZUK7, Q7ZUV7, Q80WC1, Q8AYC1, Q8BZ32, Q8C966, Q8CGV9, Q8CHP6, Q8NDX5
Diamond homologs: A2A5N8, B1B1A0, D3YUG0, D3YXK1, D3ZWK4, E1C2V1, O02274, O60284, O95251, P39769, P59178, P70047, P70475, P78364, P97500, Q01538, Q05BQ5, Q1JQD9, Q1RNF8, Q29L50, Q32N90, Q3MIF2, Q4V7W5, Q5DTW2, Q5R737, Q5SVQ0, Q5VUG0, Q5VXD3, Q64028, Q6DIN3, Q6P5G3, Q6SPE9, Q6SPF0, Q7Z3H4, Q80TY4, Q810T5, Q8BLB7, Q8C8Y5, Q8CFC2, Q8CHP6
SIGNOR signaling
0 interactions.
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 | 8 | 141.4× | 4e-14 |
| RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known | 8 | 63.3× | 3e-11 |
| SUMOylation of transcription cofactors | 9 | 57.5× | 3e-12 |
| SUMOylation of RNA binding proteins | 8 | 50.1× | 1e-10 |
| Transcriptional Regulation by E2F6 | 6 | 46.2× | 8e-08 |
| Regulation of PTEN gene transcription | 8 | 37.6× | 1e-09 |
| SUMOylation of chromatin organization proteins | 8 | 33.4× | 3e-09 |
| SUMOylation of DNA damage response and repair proteins | 8 | 30.8× | 4e-09 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| chromatin remodeling | 7 | 10.0× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
142 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 120 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3202 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:170097219:T:TA | donor_gain | 1.0000 |
| 3:170097221:ATGTT:A | donor_gain | 1.0000 |
| 3:170097225:T:A | donor_gain | 1.0000 |
| 3:170097237:T:TA | donor_gain | 1.0000 |
| 3:170097380:GCAGC:G | acceptor_gain | 1.0000 |
| 3:170097381:CAGC:C | acceptor_gain | 1.0000 |
| 3:170097381:CAGCC:C | acceptor_gain | 1.0000 |
| 3:170097382:AGC:A | acceptor_gain | 1.0000 |
| 3:170097383:GC:G | acceptor_gain | 1.0000 |
| 3:170097384:CC:C | acceptor_gain | 1.0000 |
| 3:170097385:C:CA | acceptor_loss | 1.0000 |
| 3:170097385:C:CC | acceptor_gain | 1.0000 |
| 3:170097386:T:A | acceptor_loss | 1.0000 |
| 3:170097392:T:C | acceptor_gain | 1.0000 |
| 3:170097392:T:TC | acceptor_gain | 1.0000 |
| 3:170097397:C:CT | acceptor_gain | 1.0000 |
| 3:170097398:A:T | acceptor_gain | 1.0000 |
| 3:170099035:T:C | acceptor_gain | 1.0000 |
| 3:170099047:A:T | acceptor_gain | 1.0000 |
| 3:170102477:A:AC | donor_gain | 1.0000 |
| 3:170102477:ACCA:A | donor_loss | 1.0000 |
| 3:170102478:C:A | donor_loss | 1.0000 |
| 3:170102478:C:CC | donor_gain | 1.0000 |
| 3:170102478:CCAGG:C | donor_gain | 1.0000 |
| 3:170102686:C:CC | acceptor_gain | 1.0000 |
| 3:170102711:C:CC | acceptor_gain | 1.0000 |
| 3:170117218:CTACT:C | donor_loss | 1.0000 |
| 3:170117219:TACTT:T | donor_loss | 1.0000 |
| 3:170117220:ACTTA:A | donor_loss | 1.0000 |
| 3:170117221:CTTAC:C | donor_loss | 1.0000 |
AlphaMissense
6456 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:170097243:A:G | L980P | 1.000 |
| 3:170097252:A:C | I977S | 1.000 |
| 3:170097252:A:T | I977N | 1.000 |
| 3:170097259:C:G | A975P | 1.000 |
| 3:170097264:A:C | I973S | 1.000 |
| 3:170097264:A:G | I973T | 1.000 |
| 3:170097264:A:T | I973N | 1.000 |
| 3:170097266:C:A | K972N | 1.000 |
| 3:170097266:C:G | K972N | 1.000 |
| 3:170097268:T:C | K972E | 1.000 |
| 3:170097270:A:G | L971P | 1.000 |
| 3:170097270:A:T | L971Q | 1.000 |
| 3:170097273:G:T | A970D | 1.000 |
| 3:170097276:G:T | P969Q | 1.000 |
| 3:170097279:C:T | G968D | 1.000 |
| 3:170097280:C:A | G968C | 1.000 |
| 3:170097280:C:G | G968R | 1.000 |
| 3:170097282:A:G | L967P | 1.000 |
| 3:170097282:A:T | L967Q | 1.000 |
| 3:170097284:C:A | K966N | 1.000 |
| 3:170097284:C:G | K966N | 1.000 |
| 3:170097286:T:C | K966E | 1.000 |
| 3:170097293:C:A | M963I | 1.000 |
| 3:170097293:C:G | M963I | 1.000 |
| 3:170097293:C:T | M963I | 1.000 |
| 3:170097306:A:C | L959R | 1.000 |
| 3:170097306:A:G | L959P | 1.000 |
| 3:170097306:A:T | L959H | 1.000 |
| 3:170097308:A:C | H958Q | 1.000 |
| 3:170097308:A:T | H958Q | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000002200 (3:170168541 G>A), RS1000003413 (3:170124467 G>A), RS1000071008 (3:170136302 A>T), RS1000147933 (3:170131602 G>C), RS1000148931 (3:170161124 A>G), RS1000174160 (3:170112599 C>T), RS1000175055 (3:170181574 G>A), RS1000187871 (3:170148787 A>G), RS1000208309 (3:170091320 T>C), RS1000247805 (3:170137714 C>A,G,T), RS1000263939 (3:170161424 T>G), RS1000333368 (3:170106473 T>A,G), RS1000348531 (3:170144360 T>C), RS1000363127 (3:170098648 G>A,C), RS1000375974 (3:170125094 A>G)
Disease associations
OMIM: gene MIM:620031 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST90000025_958 | Appendicular lean mass | 6.000000e-15 |
| GCST90000026_3 | Appendicular lean mass | 5.000000e-09 |
| GCST90000027_28 | Appendicular lean mass | 3.000000e-07 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004980 | appendicular lean mass |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, decreases expression | 4 |
| Nickel | increases expression | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| dicrotophos | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| cobaltous chloride | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| coumarin | affects phosphorylation | 1 |
| cupric oxide | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| pentabromodiphenyl ether | increases expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| torcetrapib | increases expression | 1 |
| abrine | increases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | increases expression | 1 |
| 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine | increases expression, increases response to substance | 1 |
| bisphenol S | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Bortezomib | increases expression | 1 |
| Temozolomide | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Cadmium | increases abundance, decreases expression | 1 |
| Caffeine | affects phosphorylation | 1 |
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.