GMEB2
geneOn this page
Also known as P79PIFKIAA1269PIF79
Summary
GMEB2 (glucocorticoid modulatory element binding protein 2, HGNC:4371) is a protein-coding gene on chromosome 20q13.33, encoding Glucocorticoid modulatory element-binding protein 2 (Q9UKD1). Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids.
This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites.
Source: NCBI Gene 26205 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 77 total — 1 likely-pathogenic
- MANE Select transcript:
NM_012384
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4371 |
| Approved symbol | GMEB2 |
| Name | glucocorticoid modulatory element binding protein 2 |
| Location | 20q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | P79PIF, KIAA1269, PIF79 |
| Ensembl gene | ENSG00000101216 |
| Ensembl biotype | protein_coding |
| OMIM | 607451 |
| Entrez | 26205 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 8 protein_coding, 1 retained_intron
ENST00000266068, ENST00000370069, ENST00000370077, ENST00000889842, ENST00000889843, ENST00000889844, ENST00000936808, ENST00000936809, ENST00000951328
RefSeq mRNA: 1 — MANE Select: NM_012384
NM_012384
CCDS: CCDS13528
Canonical transcript exons
ENST00000370077 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000663497 | 63604743 | 63604840 |
| ENSE00001417477 | 63626956 | 63627101 |
| ENSE00001451682 | 63619267 | 63619454 |
| ENSE00003843772 | 63587605 | 63590729 |
| ENSE00004283370 | 63597757 | 63597860 |
| ENSE00004283371 | 63592022 | 63592144 |
| ENSE00004283372 | 63602965 | 63603092 |
| ENSE00004283373 | 63592533 | 63592670 |
| ENSE00004283374 | 63593011 | 63593082 |
| ENSE00004283376 | 63595610 | 63595767 |
Expression profiles
Bgee: expression breadth ubiquitous, 269 present calls, max score 93.87.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.5436 / max 193.3725, expressed in 1795 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 188392 | 11.4260 | 1787 |
| 188391 | 1.1176 | 426 |
Top tissues by expression
283 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 93.87 | gold quality |
| buccal mucosa cell | CL:0002336 | 88.22 | gold quality |
| thymus | UBERON:0002370 | 86.94 | gold quality |
| mucosa of urinary bladder | UBERON:0001259 | 86.71 | silver quality |
| ileal mucosa | UBERON:0000331 | 86.23 | gold quality |
| pancreatic ductal cell | CL:0002079 | 86.17 | silver quality |
| granulocyte | CL:0000094 | 84.33 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 83.96 | gold quality |
| tibialis anterior | UBERON:0001385 | 83.78 | gold quality |
| blood | UBERON:0000178 | 83.59 | gold quality |
| cartilage tissue | UBERON:0002418 | 83.50 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 83.43 | gold quality |
| left lobe of thyroid gland | UBERON:0001120 | 83.13 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 83.06 | gold quality |
| thyroid gland | UBERON:0002046 | 82.89 | gold quality |
| oocyte | CL:0000023 | 82.85 | gold quality |
| dorsal motor nucleus of vagus nerve | UBERON:0002870 | 82.65 | gold quality |
| endothelial cell | CL:0000115 | 81.90 | gold quality |
| saphenous vein | UBERON:0007318 | 81.76 | gold quality |
| pylorus | UBERON:0001166 | 81.42 | gold quality |
| upper leg skin | UBERON:0004262 | 81.35 | gold quality |
| trachea | UBERON:0003126 | 81.34 | gold quality |
| inferior olivary complex | UBERON:0002127 | 81.19 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 81.11 | silver quality |
| olfactory bulb | UBERON:0002264 | 81.02 | gold quality |
| amniotic fluid | UBERON:0000173 | 80.94 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 80.92 | gold quality |
| cerebellar vermis | UBERON:0004720 | 80.77 | silver quality |
| apex of heart | UBERON:0002098 | 80.67 | gold quality |
| skin of hip | UBERON:0001554 | 80.60 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.28 |
Regulation
Is transcription factor: yes
JASPAR motifs
| Motif | Name | Family |
|---|---|---|
| MA0862.1 | GMEB2 | GMEB |
JASPAR matrix evidence (PMIDs): PMID:11743720
miRNA regulators (miRDB)
73 targeting GMEB2, 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-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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-4648 | 99.91 | 67.00 | 710 |
| HSA-MIR-659-3P | 99.85 | 70.69 | 1620 |
| HSA-MIR-765 | 99.84 | 68.24 | 2442 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-11181-3P | 99.75 | 66.38 | 2205 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-5093 | 99.67 | 69.26 | 2291 |
| HSA-MIR-6715B-5P | 99.64 | 69.63 | 1420 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
Literature-anchored findings (GeneRIF, showing 1)
- consensus DNA recognition motif for two KDWK transcription factors identifies flexible-length, CpG-methylation sensitive cognate binding sites in the majority of human promoters (PMID:11743720)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | gmeb2 | ENSDARG00000093240 |
| mus_musculus | Gmeb2 | ENSMUSG00000038705 |
| rattus_norvegicus | Gmeb2 | ENSRNOG00000013339 |
| caenorhabditis_elegans | WBGENE00007732 | |
| caenorhabditis_elegans | WBGENE00008092 | |
| caenorhabditis_elegans | WBGENE00010010 | |
| caenorhabditis_elegans | WBGENE00015285 |
Paralogs (1): GMEB1 (ENSG00000162419)
Protein
Protein identifiers
Glucocorticoid modulatory element-binding protein 2 — Q9UKD1 (reviewed: Q9UKD1)
Alternative names: DNA-binding protein p79PIF, Parvovirus initiation factor p79
All UniProt accessions (1): Q9UKD1
UniProt curated annotations — full annotation on UniProt →
Function. Trans-acting factor that binds to glucocorticoid modulatory elements (GME) present in the TAT (tyrosine aminotransferase) promoter and increases sensitivity to low concentrations of glucocorticoids. Also binds to the transferrin receptor promoter. Essential auxiliary factor for the replication of parvoviruses.
Subunit / interactions. Homodimer, and heterodimer of GMEB1 and GMEB2. GMEB1 and GMEB2 form the parvovirus initiator complex (PIF). Interacts with the glucocorticoid receptor (NR3C1). May interact with CREB-binding protein (CBP).
Subcellular location. Nucleus. Cytoplasm.
Tissue specificity. Expressed in peripheral blood lymphocytes and fetal liver. Expressed preferentially in reproductive and/or developmentally important cells, such as testis, placenta, bone marrow and fetal tissues.
RefSeq proteins (1): NP_036516* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000770 | SAND_dom | Domain |
| IPR010919 | SAND-like_dom_sf | Homologous_superfamily |
| IPR059099 | GMEB1/2/Spe-44_dom | Domain |
Pfam: PF01342, PF25892
UniProt features (17 total): binding site 8, sequence conflict 3, cross-link 2, chain 1, domain 1, modified residue 1, coiled-coil region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UKD1-F1 | 61.98 | 0.30 |
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 (8): 175; 110; 136; 140; 143; 154; 167; 171
Post-translational modifications (3): 373, 155, 155
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 92 (showing top):
BLALOCK_ALZHEIMERS_DISEASE_UP, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GCM_NF2, CTTTGTA_MIR524, YOSHIMURA_MAPK8_TARGETS_UP, NIKOLSKY_BREAST_CANCER_20Q12_Q13_AMPLICON, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, HOLLEMAN_DAUNORUBICIN_B_ALL_DN, HOLLEMAN_DAUNORUBICIN_ALL_DN, GSE13522_CTRL_VS_T_CRUZI_BRAZIL_STRAIN_INF_SKIN_UP, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, HMG20B_TARGET_GENES, NR1I2_TARGET_GENES, RBM34_TARGET_GENES, SFMBT1_TARGET_GENES
GO Biological Process (2): regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366)
GO Molecular Function (8): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), identical protein binding (GO:0042802), metal ion binding (GO:0046872), sequence-specific double-stranded DNA binding (GO:1990837), DNA binding (GO:0003677), protein binding (GO:0005515), sequence-specific DNA binding (GO:0043565)
GO Cellular Component (5): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding | 2 |
| regulation of DNA-templated transcription | 1 |
| transcription by RNA polymerase II | 1 |
| DNA-templated transcription | 1 |
| cis-regulatory region sequence-specific DNA binding | 1 |
| chromatin | 1 |
| DNA-binding transcription factor activity | 1 |
| regulation of transcription by RNA polymerase II | 1 |
| protein binding | 1 |
| cation binding | 1 |
| double-stranded DNA binding | 1 |
| sequence-specific DNA binding | 1 |
| nucleic acid binding | 1 |
| binding | 1 |
| DNA binding | 1 |
| chromosome | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
1050 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GMEB2 | TFRC | P02786 | 648 |
| GMEB2 | ARFRP1 | Q13795 | 597 |
| GMEB2 | FNDC11 | Q9BVV2 | 550 |
| GMEB2 | HSPB2 | Q16082 | 548 |
| GMEB2 | ZGPAT | Q8N5A5 | 529 |
| GMEB2 | HSPB1 | P04792 | 525 |
| GMEB2 | STMN3 | Q9NZ72 | 515 |
| GMEB2 | NR3C1 | P04150 | 501 |
| GMEB2 | HSPB3 | Q12988 | 496 |
| GMEB2 | TYSND1 | Q2T9J0 | 490 |
| GMEB2 | BTBD3 | Q9Y2F9 | 462 |
| GMEB2 | TAT | P17735 | 454 |
| GMEB2 | PXMP4 | Q9Y6I8 | 446 |
| GMEB2 | NELFB | Q8WX92 | 437 |
| GMEB2 | ZNF341 | Q9BYN7 | 408 |
IntAct
83 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ATXN1 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.670 |
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| GMEB2 | MXRA8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZMYND19 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GMEB2 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CEP19 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MAP1LC3C | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TRAF3 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL2 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIN1 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POGZ | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO3 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| POU6F2 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CDC7 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LMO2 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MXRA8 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GMEB2 | TTF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MOB1A | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD44 | PDPK1 | psi-mi:“MI:0914”(association) | 0.530 |
| GMEB1 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.500 |
| CBFA2T3 | GMEB2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CD44 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC2 | METTL8 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC1 | ARVCF | psi-mi:“MI:0914”(association) | 0.350 |
| GMEB1 | MATN4 | psi-mi:“MI:0914”(association) | 0.350 |
| IL7R | FAM171A2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (67): GMEB2 (Affinity Capture-RNA), GMEB2 (Affinity Capture-RNA), GMEB2 (Affinity Capture-RNA), GMEB2 (Proximity Label-MS), GMEB2 (Affinity Capture-MS), GMEB2 (Affinity Capture-MS), GMEB2 (Affinity Capture-MS), GMEB2 (Affinity Capture-MS), GMEB2 (Affinity Capture-MS), GMEB2 (Two-hybrid), GMEB2 (Two-hybrid), GMEB2 (Two-hybrid), POU6F2 (Two-hybrid), MOB1A (Two-hybrid), FHL2 (Two-hybrid)
ESM2 similar proteins: A2RSY1, F1R7R1, O54972, O75069, O75151, O88873, P0CH95, P49140, P58929, Q02225, Q06455, Q13233, Q1LY51, Q24767, Q2VPU4, Q2YDD2, Q3KR73, Q499B3, Q4VGL6, Q5F3B1, Q5PQS6, Q5TC82, Q60416, Q60698, Q61909, Q62415, Q62739, Q66IV1, Q6F6B3, Q6NUC6, Q6NYU6, Q7Z3K3, Q80TJ7, Q80W04, Q8BZH4, Q8CHY6, Q8CID0, Q8K2L8, Q8NEM7, Q8TEK3
Diamond homologs: O43439, O54972, O70374, O75081, O75398, O77562, O88450, O88873, P23497, P58929, Q06455, Q13342, Q3KRF1, Q5F3B1, Q61909, Q8BVK9, Q921C6, Q9H930, Q9HB58, Q9IAB2, Q9UKD1, Q9Z1T5, Q24180, Q18171, Q2HJ87, Q9JL60, Q9QUZ8, Q9Y692, Q99388, Q9N1Q5
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 51 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 |
|---|---|---|---|
| Extracellular matrix organization | 5 | 10.9× | 1e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
77 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 1 |
| Uncertain significance | 62 |
| Likely benign | 6 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1326329 | GRCh37/hg19 20q13.33(chr20:61826780-62660844) | Likely pathogenic |
SpliceAI
2175 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:63590725:CAGGG:C | acceptor_gain | 1.0000 |
| 20:63590726:AGGG:A | acceptor_gain | 1.0000 |
| 20:63590727:GGG:G | acceptor_gain | 1.0000 |
| 20:63590728:GG:G | acceptor_gain | 1.0000 |
| 20:63590728:GGC:G | acceptor_loss | 1.0000 |
| 20:63590730:C:CC | acceptor_gain | 1.0000 |
| 20:63590730:CTG:C | acceptor_loss | 1.0000 |
| 20:63590731:T:A | acceptor_loss | 1.0000 |
| 20:63592126:T:C | acceptor_gain | 1.0000 |
| 20:63592142:CAT:C | acceptor_gain | 1.0000 |
| 20:63592142:CATCT:C | acceptor_gain | 1.0000 |
| 20:63592145:C:CC | acceptor_gain | 1.0000 |
| 20:63592146:T:C | acceptor_gain | 1.0000 |
| 20:63592146:T:TC | acceptor_gain | 1.0000 |
| 20:63592527:TCTCA:T | donor_loss | 1.0000 |
| 20:63592528:CTCA:C | donor_loss | 1.0000 |
| 20:63592529:TCACC:T | donor_loss | 1.0000 |
| 20:63592530:CA:C | donor_loss | 1.0000 |
| 20:63592531:A:AT | donor_loss | 1.0000 |
| 20:63592649:C:CT | acceptor_gain | 1.0000 |
| 20:63592649:C:T | acceptor_gain | 1.0000 |
| 20:63592652:C:CT | acceptor_gain | 1.0000 |
| 20:63592666:GTCAT:G | acceptor_gain | 1.0000 |
| 20:63592667:TCAT:T | acceptor_gain | 1.0000 |
| 20:63592668:CAT:C | acceptor_gain | 1.0000 |
| 20:63592668:CATC:C | acceptor_gain | 1.0000 |
| 20:63592669:AT:A | acceptor_gain | 1.0000 |
| 20:63592671:C:CC | acceptor_gain | 1.0000 |
| 20:63592672:T:G | acceptor_loss | 1.0000 |
| 20:63592673:G:C | acceptor_gain | 1.0000 |
AlphaMissense
3429 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:63595698:G:C | S177R | 1.000 |
| 20:63595698:G:T | S177R | 1.000 |
| 20:63595700:T:G | S177R | 1.000 |
| 20:63595704:G:C | C175W | 1.000 |
| 20:63595705:C:A | C175F | 1.000 |
| 20:63595705:C:G | C175S | 1.000 |
| 20:63595705:C:T | C175Y | 1.000 |
| 20:63595706:A:G | C175R | 1.000 |
| 20:63595706:A:T | C175S | 1.000 |
| 20:63595716:G:C | C171W | 1.000 |
| 20:63595717:C:G | C171S | 1.000 |
| 20:63595717:C:T | C171Y | 1.000 |
| 20:63595718:A:G | C171R | 1.000 |
| 20:63595718:A:T | C171S | 1.000 |
| 20:63595737:G:C | F164L | 1.000 |
| 20:63595737:G:T | F164L | 1.000 |
| 20:63595738:A:G | F164S | 1.000 |
| 20:63595739:A:G | F164L | 1.000 |
| 20:63595757:C:G | D158H | 1.000 |
| 20:63595767:C:A | R154S | 1.000 |
| 20:63595767:C:G | R154S | 1.000 |
| 20:63597757:C:A | R154M | 1.000 |
| 20:63597757:C:G | R154T | 1.000 |
| 20:63597760:A:G | L153P | 1.000 |
| 20:63597760:A:T | L153H | 1.000 |
| 20:63597762:C:A | M152I | 1.000 |
| 20:63597762:C:G | M152I | 1.000 |
| 20:63597762:C:T | M152I | 1.000 |
| 20:63597778:C:G | R147P | 1.000 |
| 20:63597779:G:T | R147S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000041142 (20:63612965 T>A), RS1000060214 (20:63623892 A>C), RS1000080615 (20:63600549 C>G), RS1000099795 (20:63617707 C>T), RS1000136866 (20:63600858 G>A,C), RS1000152286 (20:63606873 A>T), RS1000228666 (20:63623019 C>T), RS1000255626 (20:63595329 G>A), RS1000262887 (20:63606553 T>A), RS1000441719 (20:63614363 G>A,C), RS1000450322 (20:63628912 G>A), RS1000453276 (20:63594372 G>A), RS1000485696 (20:63605959 GA>G,GAA), RS1000613544 (20:63599570 C>T), RS1000673083 (20:63628107 G>C)
Disease associations
OMIM: gene MIM:607451 | disease phenotypes: MIM:121200, MIM:613720
GenCC curated gene-disease
Mondo (2): seizures, benign familial neonatal, 1 (MONDO:0007365), developmental and epileptic encephalopathy, 7 (MONDO:0013387)
Orphanet (2): Self-limited neonatal epilepsy (Orphanet:1949), KCNQ2-related developmental and epileptic encephalopathy (Orphanet:439218)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001942_22 | Prostate cancer | 4.000000e-16 |
| GCST010002_71 | Refractive error | 1.000000e-14 |
| GCST010796_2607 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_2608 | Electrocardiogram morphology (amplitude at temporal datapoints) | 3.000000e-08 |
| GCST010796_2609 | Electrocardiogram morphology (amplitude at temporal datapoints) | 4.000000e-09 |
| GCST010796_2610 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_2611 | Electrocardiogram morphology (amplitude at temporal datapoints) | 2.000000e-09 |
| GCST010796_2612 | Electrocardiogram morphology (amplitude at temporal datapoints) | 6.000000e-09 |
| GCST90002405_409 | Reticulocyte count | 3.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
| EFO:0007986 | reticulocyte count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C567743 | Epilepsy, Benign Neonatal, 1, And-Or Myokymia (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression, affects expression | 5 |
| Arsenic | affects methylation, increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| TAK-243 | increases sumoylation | 1 |
| triphenyl phosphate | affects expression | 1 |
| sodium arsenate | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | increases abundance, increases expression | 1 |
| coumarin | affects phosphorylation | 1 |
| beta-methylcholine | affects expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Benzene | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | decreases methylation | 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): developmental and epileptic encephalopathy, 7, seizures, benign familial neonatal, 1