KCTD15
geneOn this page
Also known as MGC25497
Summary
KCTD15 (potassium channel tetramerization domain containing 15, HGNC:23297) is a protein-coding gene on chromosome 19q13.11, encoding BTB/POZ domain-containing protein KCTD15 (Q96SI1). During embryonic development, it is involved in neural crest formation.
Enables identical protein binding activity. Predicted to be involved in negative regulation of DNA-templated transcription. Predicted to be located in nucleus.
Source: NCBI Gene 79047 — RefSeq curated summary.
At a glance
- Gene–disease (curated): frontonasal dysplasia (Limited, GenCC)
- GWAS associations: 31
- Clinical variants (ClinVar): 55 total
- MANE Select transcript:
NM_001129994
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23297 |
| Approved symbol | KCTD15 |
| Name | potassium channel tetramerization domain containing 15 |
| Location | 19q13.11 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC25497 |
| Ensembl gene | ENSG00000153885 |
| Ensembl biotype | protein_coding |
| OMIM | 615240 |
| Entrez | 79047 |
Gene structure
Transcript identifiers
Ensembl transcripts: 30 — 28 protein_coding, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000284006, ENST00000430256, ENST00000587559, ENST00000587658, ENST00000588637, ENST00000588881, ENST00000589786, ENST00000590385, ENST00000590771, ENST00000590906, ENST00000592210, ENST00000592363, ENST00000683859, ENST00000892923, ENST00000892924, ENST00000892925, ENST00000892926, ENST00000892927, ENST00000892928, ENST00000892929, ENST00000892930, ENST00000892931, ENST00000912137, ENST00000912138, ENST00000912139, ENST00000912140, ENST00000965518, ENST00000965519, ENST00000965520, ENST00000965521
RefSeq mRNA: 3 — MANE Select: NM_001129994
NM_001129994, NM_001129995, NM_024076
CCDS: CCDS12434, CCDS46039
Canonical transcript exons
ENST00000683859 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001012862 | 33798668 | 33798766 |
| ENSE00002227001 | 33801167 | 33801342 |
| ENSE00002228171 | 33811247 | 33811552 |
| ENSE00002245652 | 33806863 | 33807007 |
| ENSE00003683934 | 33800428 | 33800520 |
| ENSE00003920958 | 33796870 | 33796987 |
| ENSE00003922487 | 33812790 | 33815761 |
Expression profiles
Bgee: expression breadth ubiquitous, 259 present calls, max score 94.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.0665 / max 56.2339, expressed in 1316 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 175098 | 2.1832 | 967 |
| 175097 | 1.2736 | 769 |
| 175096 | 0.6098 | 366 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ventricular zone | UBERON:0003053 | 94.99 | gold quality |
| ganglionic eminence | UBERON:0004023 | 94.93 | gold quality |
| left uterine tube | UBERON:0001303 | 93.68 | gold quality |
| skin of hip | UBERON:0001554 | 93.66 | gold quality |
| skin of abdomen | UBERON:0001416 | 93.29 | gold quality |
| right coronary artery | UBERON:0001625 | 93.21 | gold quality |
| body of uterus | UBERON:0009853 | 92.96 | gold quality |
| skin of leg | UBERON:0001511 | 92.94 | gold quality |
| ectocervix | UBERON:0012249 | 92.57 | gold quality |
| lower esophagus | UBERON:0013473 | 92.50 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.49 | gold quality |
| cortical plate | UBERON:0005343 | 92.46 | gold quality |
| penis | UBERON:0000989 | 92.21 | gold quality |
| zone of skin | UBERON:0000014 | 92.19 | gold quality |
| popliteal artery | UBERON:0002250 | 92.19 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 92.18 | gold quality |
| tibial artery | UBERON:0007610 | 92.16 | gold quality |
| saphenous vein | UBERON:0007318 | 92.15 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 91.87 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 91.39 | gold quality |
| esophagus | UBERON:0001043 | 91.38 | gold quality |
| endocervix | UBERON:0000458 | 91.35 | gold quality |
| aorta | UBERON:0000947 | 90.79 | gold quality |
| left coronary artery | UBERON:0001626 | 90.77 | gold quality |
| upper leg skin | UBERON:0004262 | 90.72 | gold quality |
| esophagus mucosa | UBERON:0002469 | 90.70 | gold quality |
| nipple | UBERON:0002030 | 90.57 | gold quality |
| coronary artery | UBERON:0001621 | 90.28 | gold quality |
| body of pancreas | UBERON:0001150 | 89.93 | gold quality |
| vagina | UBERON:0000996 | 89.83 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.13 |
| E-MTAB-8060 | no | 55.65 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
150 targeting KCTD15, 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-3163 | 100.00 | 77.23 | 8605 |
| 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-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-4487 | 99.96 | 64.58 | 1252 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-9718 | 99.94 | 68.91 | 918 |
| HSA-MIR-6772-5P | 99.94 | 67.01 | 577 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-338-5P | 99.92 | 72.34 | 2951 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-4639-5P | 99.81 | 67.37 | 1028 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-4319 | 99.76 | 69.83 | 2586 |
| HSA-MIR-1976 | 99.74 | 65.48 | 1127 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-1200 | 99.71 | 70.42 | 1838 |
| HSA-MIR-670-5P | 99.67 | 69.94 | 1565 |
| HSA-MIR-580-3P | 99.67 | 69.23 | 1841 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-4676-3P | 99.65 | 69.31 | 1733 |
| HSA-MIR-892C-3P | 99.65 | 69.38 | 1745 |
Literature-anchored findings (GeneRIF, showing 8)
- Data show the synthetic effect of SNPs on the indices of adiposity and risk of obesity in Chinese girls, but failed to replicate the effect of five separate variants of SEC16B rs10913469, SH2B1 rs4788102, PCSK1 rs6235, KCTD15 rs29941 and BAT2 rs2844479. (PMID:23121087)
- results indicate that Kctd15 acts in the embryo at least in part by specifically binding to the activation domain of AP-2alpha, thereby blocking the function of this critical factor in the neural crest induction hierarchy. (PMID:23382213)
- These data suggest that the non-SUMOylated form of Kctd15 functions in neural crest development. (PMID:24086424)
- SEC16B, MC4R, MAP2K5 and KCTD15 (rs17782313, rs543874, rs2241423 and rs11084753) polymorphisms are associated with the risk for children obesity in China. (PMID:25637721)
- The KCTD15 rs287103 T variant allele was associated with increased risk of bulimia nervosa and with scores of psychopathological scales of these patients. (PMID:28948079)
- KCTD15 deregulation is associated with alterations of the NF-kappaB signaling in both pathological and physiological model systems. (PMID:34521919)
- KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis. (PMID:38113115)
- BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome. (PMID:38296633)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kctd15a | ENSDARG00000045893 |
| ENSDARG00000105225 | ||
| mus_musculus | Kctd15 | ENSMUSG00000030499 |
| rattus_norvegicus | Kctd15 | ENSRNOG00000021137 |
| drosophila_melanogaster | twz | FBGN0034636 |
| caenorhabditis_elegans | F32B4.5 | WBGENE00009315 |
Paralogs (13): KCTD1 (ENSG00000134504), KCTD14 (ENSG00000151364), KCTD18 (ENSG00000155729), KCTD6 (ENSG00000168301), KCTD19 (ENSG00000168676), KCTD12 (ENSG00000178695), KCTD4 (ENSG00000180332), KCTD16 (ENSG00000183775), KCTD8 (ENSG00000183783), KCTD21 (ENSG00000188997), KCNRG (ENSG00000198553), KCTD11 (ENSG00000213859), KCTD7 (ENSG00000243335)
Protein
Protein identifiers
BTB/POZ domain-containing protein KCTD15 — Q96SI1 (reviewed: Q96SI1)
Alternative names: Potassium channel tetramerization domain-containing protein 15
All UniProt accessions (7): Q96SI1, K7EIF1, K7EM48, K7EN63, K7EPF0, K7EQS3, V9GYY8
UniProt curated annotations — full annotation on UniProt →
Function. During embryonic development, it is involved in neural crest formation. Inhibits AP2 transcriptional activity by interaction with its activation domain.
Subunit / interactions. Forms oligomers, predominantly homopentamers. Interacts with KCTD1, probably forming heteropentamers depending on its abundance in a cell-type dependent manner. Interacts with TFAP2A; this interaction inhibits TFAP2A transcriptional activation.
Subcellular location. Nucleus.
Disease relevance. Defects in KCTD15, affecting the BTB domain of the protein, may be the cause of a distinctive frontonasal dysplasia syndrome characterized by a midline mass containing fatty or hamartomatous tissue that overlies the frontonasal region, sparse scalp hair, and aplasia cutis of the scalp. Additionally, congenital heart disease has been observed in one family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96SI1-1 | 1 | yes |
| Q96SI1-2 | 2 |
RefSeq proteins (3): NP_001123466, NP_001123467, NP_076981 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR003131 | T1-type_BTB | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR045904 | KCTD15_T1-type_BTB | Domain |
| IPR048595 | KCTD1-15-like_C | Domain |
Pfam: PF02214, PF20871
UniProt features (22 total): helix 5, strand 4, sequence variant 3, modified residue 3, splice variant 2, chain 1, domain 1, turn 1, region of interest 1, compositionally biased region 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8PNM | X-RAY DIFFRACTION | 1.94 |
| 8PNR | X-RAY DIFFRACTION | 2.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96SI1-F1 | 82.92 | 0.59 |
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 (3): 31, 35, 38
Function
Pathways and Gene Ontology
Reactome pathways
5 pathways
| ID | Pathway |
|---|---|
| R-HSA-8866904 | Negative regulation of activity of TFAP2 (AP-2) family transcription factors |
| R-HSA-212436 | Generic Transcription Pathway |
| R-HSA-73857 | RNA Polymerase II Transcription |
| R-HSA-74160 | Gene expression (Transcription) |
| R-HSA-8864260 | Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors |
MSigDB gene sets: 188 (showing top):
TGGTGCT_MIR29A_MIR29B_MIR29C, RNGTGGGC_UNKNOWN, FREAC2_01, HNF3ALPHA_Q6, NKX25_02, GOZGIT_ESR1_TARGETS_DN, RACCACAR_AML_Q6, LHX3_01, FOXD3_01, SRF_C, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, MYCMAX_01, BILD_E2F3_ONCOGENIC_SIGNATURE, HEN1_01, HFH8_01
GO Biological Process (2): negative regulation of DNA-templated transcription (GO:0045892), protein homooligomerization (GO:0051260)
GO Molecular Function (3): transcription corepressor activity (GO:0003714), identical protein binding (GO:0042802), protein binding (GO:0005515)
GO Cellular Component (1): nucleus (GO:0005634)
Reactome top-level categories
Rollup of top-4 pathways:
| Category | Pathways |
|---|---|
| Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors | 1 |
| RNA Polymerase II Transcription | 1 |
| Gene expression (Transcription) | 1 |
| Generic Transcription Pathway | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| protein complex oligomerization | 1 |
| transcription coregulator activity | 1 |
| negative regulation of DNA-templated transcription | 1 |
| protein binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
618 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KCTD15 | TMEM18 | Q96B42 | 956 |
| KCTD15 | GNPDA2 | Q8TDQ7 | 955 |
| KCTD15 | NEGR1 | Q7Z3B1 | 933 |
| KCTD15 | MTCH2 | Q9Y6C9 | 917 |
| KCTD15 | SH2B1 | Q9NRF2 | 917 |
| KCTD15 | MC4R | P32245 | 907 |
| KCTD15 | FTO | Q9C0B1 | 866 |
| KCTD15 | SEC16B | Q96JE7 | 812 |
| KCTD15 | FAIM2 | Q9BWQ8 | 720 |
| KCTD15 | ETV5 | P41161 | 657 |
| KCTD15 | TFAP2B | Q92481 | 647 |
| KCTD15 | BCDIN3D | Q7Z5W3 | 646 |
| KCTD15 | PTER | Q96BW5 | 604 |
| KCTD15 | QPCTL | Q9NXS2 | 578 |
| KCTD15 | KCTD5 | Q9NXV2 | 576 |
IntAct
41 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HSPA8 | GAK | psi-mi:“MI:0914”(association) | 0.760 |
| RUVBL2 | POLR3A | psi-mi:“MI:0914”(association) | 0.640 |
| CA10 | WDHD1 | psi-mi:“MI:0914”(association) | 0.640 |
| KCTD15 | KCTD1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | KCTD15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCTD1 | KCTD15 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCTD15 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCTD15 | KCTD15 | psi-mi:“MI:0407”(direct interaction) | 0.520 |
| KCTD15 | ATXN1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HIF1AN | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| TMEM184A | NRDC | psi-mi:“MI:0914”(association) | 0.350 |
| KCTD3 | PCMT1 | psi-mi:“MI:0914”(association) | 0.350 |
| NSMF | RBPJ | psi-mi:“MI:0914”(association) | 0.350 |
| PRPF39 | ZNF318 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| CEP192 | WASL | psi-mi:“MI:0914”(association) | 0.350 |
| hspa1a_hspa1b_human-1 | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
| S100P | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| MBD3L2 | AHCYL1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCTD3 | DNAJA2 | psi-mi:“MI:0914”(association) | 0.350 |
| KCTD19 | ECT2L | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (103): KCTD1 (Two-hybrid), NOTCH2NL (Two-hybrid), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Affinity Capture-MS), KCTD15 (Reconstituted Complex), TFAP2A (Reconstituted Complex), YWHAQ (Affinity Capture-MS)
ESM2 similar proteins: A3KMV1, B9EHT4, D3YWQ0, D5SHR0, F1MAB7, F5HB62, O42406, O75426, O75592, O75912, O95343, P03177, P0C5J9, P42859, P51111, P59114, P59438, Q04725, Q08274, Q0VD00, Q1HVD1, Q2TAL5, Q3KSQ2, Q3V0G7, Q4G017, Q4R327, Q4VC12, Q5R686, Q5U464, Q5VVW2, Q6NRL1, Q6P7W2, Q7TPH6, Q80TM9, Q80VW5, Q810W9, Q8BFX3, Q8CH72, Q8CI12, Q8K0E1
Diamond homologs: A3KMV1, A4IFB4, A5PKG7, A6H6X4, B1WC97, B5DEL1, D5SHR0, G5EFC3, O65555, P0C5J9, P15388, P17971, P17972, P25122, P48547, P59994, P59995, Q01956, Q03607, Q03719, Q0VD00, Q0VFV7, Q14003, Q14681, Q29RJ0, Q2HJ48, Q2TUM3, Q3URF8, Q4G0X4, Q50H33, Q52PG9, Q54KH0, Q5DTY9, Q5M956, Q5XJ34, Q5ZJP7, Q62897, Q63881, Q63959, Q68DU8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
55 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 46 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1307 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:33796988:G:GA | donor_loss | 1.0000 |
| 19:33796989:T:G | donor_loss | 1.0000 |
| 19:33798659:T:TA | acceptor_gain | 1.0000 |
| 19:33801159:A:AG | acceptor_gain | 1.0000 |
| 19:33801160:T:G | acceptor_gain | 1.0000 |
| 19:33801162:TCTA:T | acceptor_loss | 1.0000 |
| 19:33801163:CTAG:C | acceptor_loss | 1.0000 |
| 19:33801164:TAG:T | acceptor_loss | 1.0000 |
| 19:33801164:TAGG:T | acceptor_gain | 1.0000 |
| 19:33801165:A:AG | acceptor_gain | 1.0000 |
| 19:33801165:A:G | acceptor_loss | 1.0000 |
| 19:33801165:AG:A | acceptor_gain | 1.0000 |
| 19:33801165:AGGA:A | acceptor_gain | 1.0000 |
| 19:33801165:AGGAG:A | acceptor_gain | 1.0000 |
| 19:33801166:G:GA | acceptor_gain | 1.0000 |
| 19:33801166:GG:G | acceptor_gain | 1.0000 |
| 19:33801166:GGA:G | acceptor_gain | 1.0000 |
| 19:33801166:GGAG:G | acceptor_gain | 1.0000 |
| 19:33801166:GGAGG:G | acceptor_gain | 1.0000 |
| 19:33801339:CCAG:C | donor_loss | 1.0000 |
| 19:33801340:CAG:C | donor_loss | 1.0000 |
| 19:33801341:AG:A | donor_loss | 1.0000 |
| 19:33801342:GG:G | donor_loss | 1.0000 |
| 19:33806861:A:AG | acceptor_gain | 1.0000 |
| 19:33806861:AGG:A | acceptor_loss | 1.0000 |
| 19:33806862:G:GG | acceptor_gain | 1.0000 |
| 19:33807003:TTAAG:T | donor_gain | 1.0000 |
| 19:33807004:TAAG:T | donor_gain | 1.0000 |
| 19:33807005:AAG:A | donor_gain | 1.0000 |
| 19:33807005:AAGG:A | donor_loss | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000205617 (19:33812689 G>A), RS1000225232 (19:33797053 C>G), RS1000313717 (19:33800927 T>C), RS1000438558 (19:33796822 GGAGGGGTGGGTGGGGGGAGGGTTGGGGGCGA>G), RS1000620068 (19:33806452 T>C,G), RS1000638699 (19:33812873 T>C), RS1000688016 (19:33802125 GC>G), RS1000701732 (19:33796706 AGGCGGCGGCGGC>A,AGGC,AGGCGGC,AGGCGGCGGC,AGGCGGCGGCGGCGGC), RS1000725383 (19:33801789 C>T), RS1000943422 (19:33811188 C>A,G,T), RS1001045491 (19:33812708 G>A), RS1001148328 (19:33795478 G>A,C), RS1001424341 (19:33815891 A>T), RS1001452312 (19:33794378 C>A,T), RS1001507918 (19:33796326 G>A,T)
Disease associations
OMIM: gene MIM:615240 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| frontonasal dysplasia | Limited | Autosomal dominant |
Mondo (1): frontonasal dysplasia (MONDO:0016643)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
31 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000296_10 | Body mass index | 7.000000e-12 |
| GCST000298_4 | Body mass index | 2.000000e-08 |
| GCST000299_9 | Weight | 5.000000e-09 |
| GCST000830_16 | Body mass index | 3.000000e-09 |
| GCST001762_747 | Obesity-related traits | 1.000000e-06 |
| GCST001850_2 | Major depressive disorder | 3.000000e-07 |
| GCST001850_24 | Major depressive disorder | 5.000000e-06 |
| GCST002783_105 | Body mass index | 8.000000e-06 |
| GCST002783_189 | Body mass index | 2.000000e-08 |
| GCST002783_343 | Body mass index | 2.000000e-08 |
| GCST004495_116 | BMI (adjusted for smoking behaviour) | 1.000000e-08 |
| GCST004497_139 | Body mass index (joint analysis main effects and smoking interaction) | 2.000000e-08 |
| GCST004497_91 | Body mass index (joint analysis main effects and smoking interaction) | 9.000000e-06 |
| GCST004499_47 | BMI in non-smokers | 8.000000e-07 |
| GCST004557_114 | Body mass index | 3.000000e-06 |
| GCST004557_119 | Body mass index | 7.000000e-10 |
| GCST004557_169 | Body mass index | 5.000000e-07 |
| GCST004557_247 | Body mass index | 4.000000e-10 |
| GCST004558_110 | Body mass index (joint analysis main effects and physical activity interaction) | 5.000000e-07 |
| GCST004558_167 | Body mass index (joint analysis main effects and physical activity interaction) | 3.000000e-10 |
| GCST004558_4 | Body mass index (joint analysis main effects and physical activity interaction) | 2.000000e-09 |
| GCST004559_1 | Body mass index in physically active individuals | 1.000000e-08 |
| GCST004559_111 | Body mass index in physically active individuals | 3.000000e-08 |
| GCST004559_60 | Body mass index in physically active individuals | 3.000000e-06 |
| GCST004904_204 | Body mass index | 2.000000e-10 |
| GCST005359_26 | Disease progression in age-related macular degeneration | 3.000000e-06 |
| GCST006291_98 | Spherical equivalent or myopia (age of diagnosis) | 8.000000e-09 |
| GCST007060_5 | Response to SSRI (symptom remission) | 2.000000e-06 |
| GCST007061_2 | Response to antidepressants (symptom remission) | 3.000000e-06 |
| GCST009266_16 | Dental caries (decayed and filled deciduous tooth surfaces) | 1.000000e-06 |
EFO canonical traits (8, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004340 | body mass index |
| EFO:0004338 | body weight |
| EFO:0003939 | energy intake |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0008336 | disease progression measurement |
| EFO:0004847 | age at onset |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C538065 | Frontonasal dysplasia (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
54 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 8 |
| (+)-JQ1 compound | decreases expression | 2 |
| Air Pollutants | increases abundance, increases expression, affects expression, affects methylation | 2 |
| Benzo(a)pyrene | affects methylation, increases mutagenesis | 2 |
| Particulate Matter | increases abundance, increases expression, affects expression, affects methylation | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | increases phosphorylation | 1 |
| bisphenol F | affects cotreatment, decreases methylation | 1 |
| TAK-243 | increases sumoylation | 1 |
| dicrotophos | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | decreases expression | 1 |
| trichostatin A | decreases expression | 1 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| potassium chromate(VI) | increases expression | 1 |
| propionic acid | decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| nickel sulfate | decreases expression | 1 |
| 1-nitropyrene | increases expression | 1 |
| pentanal | decreases expression | 1 |
| perfluoro-n-nonanoic acid | increases expression | 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 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Associated diseases: frontonasal dysplasia
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): age-related macular degeneration, frontonasal dysplasia, refractive error