EPC2
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Also known as DKFZP566F2124
Summary
EPC2 (enhancer of polycomb 2, HGNC:24543) is a protein-coding gene on chromosome 2q23.1, encoding Enhancer of polycomb homolog 2 (Q52LR7). May play a role in transcription or DNA repair. It is a selective cancer dependency (DepMap: 27.2% of cell lines).
Involved in positive regulation of double-strand break repair via homologous recombination and regulation of cell cycle. Part of NuA4 histone acetyltransferase complex and nucleosome.
Source: NCBI Gene 26122 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 103 total — 4 pathogenic, 2 likely-pathogenic
- Cancer dependency (DepMap): dependent in 27.2% of screened cell lines
- MANE Select transcript:
NM_015630
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24543 |
| Approved symbol | EPC2 |
| Name | enhancer of polycomb 2 |
| Location | 2q23.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZP566F2124 |
| Ensembl gene | ENSG00000135999 |
| Ensembl biotype | protein_coding |
| OMIM | 611000 |
| Entrez | 26122 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 7 protein_coding, 1 retained_intron
ENST00000258484, ENST00000397424, ENST00000409654, ENST00000449013, ENST00000457184, ENST00000491099, ENST00000902236, ENST00000902237
RefSeq mRNA: 1 — MANE Select: NM_015630
NM_015630
CCDS: CCDS46422
Canonical transcript exons
ENST00000258484 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001153925 | 148786305 | 148787569 |
| ENSE00001153931 | 148743622 | 148743767 |
| ENSE00001689981 | 148644751 | 148645170 |
| ENSE00001758796 | 148753927 | 148754133 |
| ENSE00003595825 | 148690214 | 148690373 |
| ENSE00004282159 | 148784668 | 148785001 |
| ENSE00004282160 | 148764955 | 148765146 |
| ENSE00004282161 | 148781644 | 148781780 |
| ENSE00004282162 | 148769151 | 148769240 |
| ENSE00004282163 | 148761782 | 148761930 |
| ENSE00004282164 | 148783597 | 148783756 |
| ENSE00004282165 | 148762670 | 148762802 |
| ENSE00004282166 | 148771044 | 148771387 |
| ENSE00004282167 | 148770792 | 148770937 |
Expression profiles
Bgee: expression breadth ubiquitous, 254 present calls, max score 95.73.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.2969 / max 669.3664, expressed in 1811 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 22957 | 22.2969 | 1811 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| germinal epithelium of ovary | UBERON:0001304 | 95.73 | gold quality |
| calcaneal tendon | UBERON:0003701 | 95.44 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.44 | gold quality |
| ventricular zone | UBERON:0003053 | 93.98 | gold quality |
| cortical plate | UBERON:0005343 | 93.74 | gold quality |
| endothelial cell | CL:0000115 | 93.20 | silver quality |
| sural nerve | UBERON:0015488 | 93.20 | gold quality |
| bone marrow cell | CL:0002092 | 91.63 | gold quality |
| tendon | UBERON:0000043 | 91.37 | gold quality |
| corpus callosum | UBERON:0002336 | 91.19 | gold quality |
| amniotic fluid | UBERON:0000173 | 90.45 | gold quality |
| monocyte | CL:0000576 | 89.98 | gold quality |
| ovary | UBERON:0000992 | 89.79 | gold quality |
| thymus | UBERON:0002370 | 89.79 | gold quality |
| leukocyte | CL:0000738 | 89.69 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.68 | silver quality |
| left ovary | UBERON:0002119 | 89.63 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 89.56 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 89.02 | gold quality |
| visceral pleura | UBERON:0002401 | 88.99 | gold quality |
| parietal pleura | UBERON:0002400 | 88.86 | gold quality |
| superficial temporal artery | UBERON:0001614 | 88.83 | gold quality |
| bone marrow | UBERON:0002371 | 88.77 | gold quality |
| right ovary | UBERON:0002118 | 88.69 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 88.52 | gold quality |
| urethra | UBERON:0000057 | 88.50 | gold quality |
| popliteal artery | UBERON:0002250 | 88.36 | gold quality |
| pericardium | UBERON:0002407 | 88.35 | gold quality |
| tibial artery | UBERON:0007610 | 88.35 | gold quality |
| saphenous vein | UBERON:0007318 | 88.34 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.44 |
| E-HCAD-5 | no | 2.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
177 targeting EPC2, 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-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-181A-5P | 99.99 | 72.96 | 2995 |
| HSA-MIR-181B-5P | 99.99 | 72.97 | 2996 |
| HSA-MIR-181C-5P | 99.99 | 72.95 | 2996 |
| HSA-MIR-181D-5P | 99.99 | 73.04 | 2997 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 27.2% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- EPC1 and EPC2 are components of a complex that directly or indirectly serves to prevent MYC accumulation and AML cell apoptosis, thus sustaining oncogenic potential (PMID:24166297)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | epc2 | ENSDARG00000007485 |
| mus_musculus | Epc2 | ENSMUSG00000069495 |
| rattus_norvegicus | Epc2 | ENSRNOG00000029447 |
| rattus_norvegicus | AC142154.1 | ENSRNOG00000050758 |
| drosophila_melanogaster | E(Pc) | FBGN0000581 |
| caenorhabditis_elegans | WBGENE00007030 |
Paralogs (1): EPC1 (ENSG00000120616)
Protein
Protein identifiers
Enhancer of polycomb homolog 2 — Q52LR7 (reviewed: Q52LR7)
Alternative names: EPC-like
All UniProt accessions (5): C9J1X4, E7ETK1, E9PBA8, Q52LR7, H7C0K5
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in transcription or DNA repair.
Subcellular location. Nucleus.
Similarity. Belongs to the enhancer of polycomb family.
RefSeq proteins (1): NP_056445* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR009607 | Enhancer_polycomb_C | Domain |
| IPR019542 | Enhancer_polycomb-like_N | Domain |
| IPR024943 | Enhancer_polycomb | Family |
Pfam: PF06752, PF10513
UniProt features (14 total): cross-link 4, region of interest 3, compositionally biased region 3, modified residue 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q52LR7-F1 | 58.35 | 0.15 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (6): 195, 324, 362, 538, 754, 135
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 239 (showing top):
GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, GOBP_REGULATION_OF_DNA_RECOMBINATION, ACTACCT_MIR196A_MIR196B, GCM_GSPT1, TGCACTT_MIR519C_MIR519B_MIR519A, GCM_ZNF198, GTTAAAG_MIR302B, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, CHANDRAN_METASTASIS_DN, GOBP_REGULATION_OF_DNA_REPAIR, ATGTTAA_MIR302C, CTAGGAA_MIR384, CATTTCA_MIR203
GO Biological Process (9): DNA repair (GO:0006281), chromatin organization (GO:0006325), regulation of transcription by RNA polymerase II (GO:0006357), regulation of apoptotic process (GO:0042981), positive regulation of DNA-templated transcription (GO:0045893), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), DNA damage response (GO:0006974)
GO Molecular Function (0):
GO Cellular Component (5): nucleosome (GO:0000786), nucleus (GO:0005634), piccolo histone acetyltransferase complex (GO:0032777), NuA4 histone acetyltransferase complex (GO:0035267), histone acetyltransferase complex (GO:0000123)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulation of DNA-templated transcription | 2 |
| chromatin | 2 |
| DNA metabolic process | 1 |
| DNA damage response | 1 |
| cellular component organization | 1 |
| transcription by RNA polymerase II | 1 |
| apoptotic process | 1 |
| regulation of programmed cell death | 1 |
| DNA-templated transcription | 1 |
| positive regulation of RNA biosynthetic process | 1 |
| cell cycle | 1 |
| regulation of cellular process | 1 |
| double-strand break repair via homologous recombination | 1 |
| regulation of double-strand break repair via homologous recombination | 1 |
| positive regulation of DNA recombination | 1 |
| positive regulation of double-strand break repair | 1 |
| regulation of DNA repair | 1 |
| double-strand break repair | 1 |
| cellular response to stress | 1 |
| protein-DNA complex | 1 |
| intracellular membrane-bounded organelle | 1 |
| protein-containing complex | 1 |
| H4/H2A histone acetyltransferase complex | 1 |
| protein acetyltransferase complex | 1 |
Protein interactions and networks
STRING
1442 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| EPC2 | DMAP1 | Q9NPF5 | 898 |
| EPC2 | BRD8 | Q9H0E9 | 860 |
| EPC2 | MEAF6 | Q9HAF1 | 838 |
| EPC2 | EZH2 | Q15910 | 832 |
| EPC2 | TRRAP | Q9Y4A5 | 788 |
| EPC2 | ING3 | Q9NXR8 | 778 |
| EPC2 | ACTL6A | O96019 | 716 |
| EPC2 | MORF4L1 | Q9UBU8 | 695 |
| EPC2 | MRGBP | Q9NV56 | 650 |
| EPC2 | MBTD1 | Q05BQ5 | 633 |
| EPC2 | YEATS4 | O95619 | 618 |
| EPC2 | EP400 | Q96L91 | 566 |
| EPC2 | CAPN14 | A8MX76 | 557 |
| EPC2 | RUVBL1 | P82276 | 551 |
| EPC2 | KAT5 | Q92993 | 545 |
IntAct
117 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RUVBL1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.860 |
| MRGBP | YEATS4 | psi-mi:“MI:0914”(association) | 0.840 |
| RUVBL2 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.810 |
| YEATS4 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.790 |
| H2AZ1 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.770 |
| MED23 | MED19 | psi-mi:“MI:2364”(proximity) | 0.770 |
| TRRAP | ATXN7 | psi-mi:“MI:0914”(association) | 0.740 |
| MBTD1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.730 |
| MORF4L1 | SIN3B | psi-mi:“MI:0914”(association) | 0.730 |
| ACTL6A | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.720 |
| VPS72 | ZNHIT1 | psi-mi:“MI:0914”(association) | 0.690 |
| H2BC1 | PPM1G | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| RUVBL1 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| MORF4L2 | YEATS4 | psi-mi:“MI:0914”(association) | 0.640 |
| FOXR1 | YEATS4 | psi-mi:“MI:0914”(association) | 0.640 |
| KPNA1 | TCERG1 | psi-mi:“MI:0914”(association) | 0.640 |
| EPC2 | YEATS4 | psi-mi:“MI:0914”(association) | 0.640 |
BioGRID (124): EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Proximity Label-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS), EPC2 (Affinity Capture-MS)
ESM2 similar proteins: A3LYI0, A5DLJ8, A5JYW9, A8WSQ9, C5DX31, G4NID8, G5ED89, O14174, O74365, P0C5E6, P0CN58, P0CN59, P18480, P22579, P25644, P32257, P34333, P39927, P50875, P52654, Q06337, Q07684, Q09345, Q09750, Q177A7, Q20374, Q23523, Q23590, Q4VYR7, Q52LR7, Q58NQ4, Q5A2B9, Q5W1J5, Q61X54, Q621Z7, Q66JA8, Q6C7K8, Q6CIN8, Q6CMB8, Q6DJR9
Diamond homologs: P0CN58, P0CN59, Q52LR7, Q5AYR3, Q66JA8, Q6CEV5, Q6DJR9, Q8C0I4, Q9UU94, P43572, Q4I5V3, Q4WDF1, Q6CIN8, Q6FLZ0, Q752Q3, Q7S747, Q8C9X6, Q9H2F5, Q5AAG1, Q6BNX0
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| EPC2 | “form complex” | “NuA4 complex” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 108 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 |
|---|---|---|---|
| HATs acetylate histones | 19 | 20.4× | 1e-17 |
| Chromatin organization | 13 | 14.3× | 1e-09 |
| Deposition of new CENPA-containing nucleosomes at the centromere | 6 | 12.9× | 5e-04 |
| Chromatin modifying enzymes | 13 | 12.7× | 3e-09 |
| Formation of the beta-catenin:TCF transactivating complex | 7 | 11.4× | 3e-04 |
| Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks | 5 | 9.9× | 7e-03 |
| mRNA Polyadenylation | 6 | 7.1× | 8e-03 |
| Processing of Capped Intron-Containing Pre-mRNA | 6 | 6.7× | 1e-02 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of double-strand break repair | 14 | 79.8× | 1e-21 |
| positive regulation of double-strand break repair via homologous recombination | 15 | 56.3× | 1e-20 |
| regulation of DNA replication | 7 | 25.1× | 9e-07 |
| regulation of DNA repair | 7 | 19.0× | 6e-06 |
| cellular response to UV | 5 | 14.5× | 1e-03 |
| regulation of apoptotic process | 17 | 13.9× | 8e-13 |
| positive regulation of transcription initiation by RNA polymerase II | 5 | 13.3× | 2e-03 |
| regulation of cell cycle | 16 | 11.7× | 6e-11 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 2 |
| Uncertain significance | 80 |
| Likely benign | 0 |
| Benign | 5 |
Top pathogenic / likely-pathogenic (6)
| Variant ID | HGVS | Classification |
|---|---|---|
| 150817 | GRCh38/hg38 2q23.1-23.2(chr2:148440874-149091788)x1 | Pathogenic |
| 183383 | NC_000002.10:g.148447496_149377297del | Pathogenic |
| 395440 | GRCh37/hg19 2q23.1-23.3(chr2:148842506-152370040)x1 | Pathogenic |
| 403692 | Single allele | Pathogenic |
| 2506556 | GRCh37/hg19 2q23.1(chr2:149220152-149633312) | Likely pathogenic |
| 562615 | GRCh37/hg19 2q23.1(chr2:148704099-149545055)x3 | Likely pathogenic |
SpliceAI
2368 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:148645159:G:GT | donor_gain | 1.0000 |
| 2:148645162:G:GT | donor_gain | 1.0000 |
| 2:148645167:ATCGG:A | donor_loss | 1.0000 |
| 2:148645168:TCGG:T | donor_loss | 1.0000 |
| 2:148645171:G:GG | donor_gain | 1.0000 |
| 2:148645172:T:A | donor_loss | 1.0000 |
| 2:148690203:A:AG | acceptor_gain | 1.0000 |
| 2:148690205:A:AG | acceptor_gain | 1.0000 |
| 2:148690206:T:G | acceptor_gain | 1.0000 |
| 2:148690212:A:AG | acceptor_gain | 1.0000 |
| 2:148690212:AG:A | acceptor_gain | 1.0000 |
| 2:148690213:G:A | acceptor_loss | 1.0000 |
| 2:148690213:G:GA | acceptor_gain | 1.0000 |
| 2:148690213:GG:G | acceptor_gain | 1.0000 |
| 2:148690213:GGA:G | acceptor_gain | 1.0000 |
| 2:148690213:GGAA:G | acceptor_gain | 1.0000 |
| 2:148690213:GGAAC:G | acceptor_gain | 1.0000 |
| 2:148690336:A:T | donor_gain | 1.0000 |
| 2:148690369:TCAGC:T | donor_gain | 1.0000 |
| 2:148690370:CAGC:C | donor_gain | 1.0000 |
| 2:148690371:AGC:A | donor_gain | 1.0000 |
| 2:148690372:GC:G | donor_gain | 1.0000 |
| 2:148690372:GCG:G | donor_gain | 1.0000 |
| 2:148690374:G:GG | donor_gain | 1.0000 |
| 2:148690374:GTAA:G | donor_loss | 1.0000 |
| 2:148690375:T:TC | donor_loss | 1.0000 |
| 2:148690378:G:GG | donor_gain | 1.0000 |
| 2:148743620:A:AG | acceptor_gain | 1.0000 |
| 2:148743621:G:A | acceptor_loss | 1.0000 |
| 2:148743621:G:GA | acceptor_gain | 1.0000 |
AlphaMissense
5334 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:148645033:T:C | F6L | 1.000 |
| 2:148645034:T:C | F6S | 1.000 |
| 2:148645034:T:G | F6C | 1.000 |
| 2:148645035:C:A | F6L | 1.000 |
| 2:148645035:C:G | F6L | 1.000 |
| 2:148645036:C:G | R7G | 1.000 |
| 2:148645037:G:A | R7Q | 1.000 |
| 2:148645049:T:A | L11Q | 1.000 |
| 2:148645051:G:C | D12H | 1.000 |
| 2:148645067:T:C | L17P | 1.000 |
| 2:148645124:G:C | R36P | 1.000 |
| 2:148645130:T:A | V38E | 1.000 |
| 2:148645139:T:C | M41T | 1.000 |
| 2:148645139:T:G | M41R | 1.000 |
| 2:148645142:C:A | P42H | 1.000 |
| 2:148645145:C:T | T43I | 1.000 |
| 2:148645147:G:A | G44R | 1.000 |
| 2:148645147:G:C | G44R | 1.000 |
| 2:148645147:G:T | G44W | 1.000 |
| 2:148645148:G:A | G44E | 1.000 |
| 2:148645151:T:A | M45K | 1.000 |
| 2:148645151:T:C | M45T | 1.000 |
| 2:148645151:T:G | M45R | 1.000 |
| 2:148645152:G:A | M45I | 1.000 |
| 2:148645152:G:C | M45I | 1.000 |
| 2:148645152:G:T | M45I | 1.000 |
| 2:148645162:G:A | E49K | 1.000 |
| 2:148645164:G:C | E49D | 1.000 |
| 2:148645164:G:T | E49D | 1.000 |
| 2:148690216:A:C | E52D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000010253 (2:148750373 A>G), RS1000022907 (2:148710093 A>C), RS1000056117 (2:148662009 T>C), RS1000080929 (2:148700934 T>A,G), RS1000100366 (2:148671473 G>T), RS1000100970 (2:148657143 T>G), RS1000122373 (2:148712492 A>G), RS1000122556 (2:148783958 C>T), RS1000125016 (2:148715148 C>G), RS1000159075 (2:148717275 A>G), RS1000181493 (2:148764117 A>G), RS1000184935 (2:148648032 C>T), RS1000207971 (2:148717446 G>T), RS1000275882 (2:148724258 C>G), RS1000292709 (2:148689066 A>T)
Disease associations
OMIM: gene MIM:611000 | disease phenotypes: MIM:156200
GenCC curated gene-disease
Mondo (1): intellectual disability, autosomal dominant 1 (MONDO:0007974)
Orphanet (1): 2q23.1 microdeletion syndrome (Orphanet:228402)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000189_10 | Protein quantitative trait loci | 4.000000e-06 |
| GCST000900_1 | Alzheimer’s disease biomarkers | 1.000000e-06 |
| GCST000900_4 | Alzheimer’s disease biomarkers | 1.000000e-06 |
| GCST006397_6 | Relative amplitude of rest-activity cycles | 3.000000e-06 |
| GCST006803_46 | Schizophrenia | 8.000000e-07 |
| GCST007201_29 | Schizophrenia | 8.000000e-09 |
| GCST007272_35 | Pulse pressure | 3.000000e-25 |
| GCST007272_39 | Pulse pressure | 6.000000e-24 |
| GCST007576_44 | Chronotype | 2.000000e-09 |
| GCST007847_107 | Type 2 diabetes | 5.000000e-09 |
| GCST009391_1617 | Metabolite levels | 9.000000e-06 |
| GCST010118_16 | Type 2 diabetes | 1.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004811 | interleukin-8 measurement |
| EFO:0004760 | t-tau measurement |
| EFO:0004670 | beta-amyloid 1-42 measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0010378 | phosphatidylcholine 34:4 measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C566947 | Mental Retardation, Autosomal Dominant 1 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression | 5 |
| trichostatin A | decreases expression, affects expression, affects cotreatment | 3 |
| sodium arsenite | decreases expression | 2 |
| Formaldehyde | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| TAK-243 | decreases sumoylation | 1 |
| TL8-506 | affects cotreatment, increases expression | 1 |
| propionaldehyde | decreases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Amiodarone | increases expression | 1 |
| Arsenic | affects methylation | 1 |
| Caffeine | affects phosphorylation | 1 |
| Dimethyl Sulfoxide | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Testosterone | decreases expression | 1 |
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): intellectual disability, autosomal dominant 1