KBTBD4
gene geneOn this page
Also known as FLJ10450HSPC252
Summary
KBTBD4 (kelch repeat and BTB domain containing 4, HGNC:23761) is a protein-coding gene on chromosome 11p11.2, encoding Kelch repeat and BTB domain-containing protein 4 (Q9NVX7). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex which targets CoREST corepressor complex components RCOR1, KDM1A/LSD1 and HDAC2 for proteasomal degradation.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 78 total
- MANE Select transcript:
NM_018095
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23761 |
| Approved symbol | KBTBD4 |
| Name | kelch repeat and BTB domain containing 4 |
| Location | 11p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ10450, HSPC252 |
| Ensembl gene | ENSG00000123444 |
| Ensembl biotype | protein_coding |
| OMIM | 617645 |
| Entrez | 55709 |
Gene structure
Transcript identifiers
Ensembl transcripts: 12 — 11 protein_coding, 1 nonsense_mediated_decay
ENST00000395288, ENST00000430070, ENST00000525720, ENST00000526005, ENST00000529499, ENST00000529946, ENST00000530668, ENST00000531067, ENST00000533290, ENST00000534239, ENST00000915129, ENST00000962990
RefSeq mRNA: 12 — MANE Select: NM_018095
NM_001318716, NM_001318717, NM_001318718, NM_001318719, NM_001318720, NM_001318721, NM_001318722, NM_001318723, NM_001318724, NM_001318725, NM_016506, NM_018095
CCDS: CCDS44594, CCDS7940, CCDS81566
Canonical transcript exons
ENST00000430070 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000989210 | 47575593 | 47575699 |
| ENSE00001521224 | 47572197 | 47573790 |
| ENSE00002250647 | 47578933 | 47578970 |
| ENSE00003539158 | 47577411 | 47578028 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 91.04.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.4133 / max 33.9493, expressed in 1633 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119640 | 4.4133 | 1633 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| islet of Langerhans | UBERON:0000006 | 91.04 | gold quality |
| cortical plate | UBERON:0005343 | 89.54 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.59 | gold quality |
| muscle of leg | UBERON:0001383 | 86.53 | gold quality |
| gastrocnemius | UBERON:0001388 | 86.42 | gold quality |
| ganglionic eminence | UBERON:0004023 | 85.62 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.22 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 84.86 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 84.75 | gold quality |
| ventricular zone | UBERON:0003053 | 84.59 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.07 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 83.89 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.51 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 83.32 | gold quality |
| fallopian tube | UBERON:0003889 | 82.94 | gold quality |
| bone marrow | UBERON:0002371 | 82.76 | gold quality |
| cerebellum | UBERON:0002037 | 82.43 | gold quality |
| cerebellar cortex | UBERON:0002129 | 82.31 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.31 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 82.30 | gold quality |
| right adrenal gland | UBERON:0001233 | 82.26 | gold quality |
| frontal cortex | UBERON:0001870 | 82.26 | gold quality |
| blood | UBERON:0000178 | 82.24 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 82.21 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.14 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 82.07 | gold quality |
| lymph node | UBERON:0000029 | 81.94 | gold quality |
| muscle tissue | UBERON:0002385 | 81.78 | gold quality |
| left adrenal gland | UBERON:0001234 | 81.74 | gold quality |
| bone marrow cell | CL:0002092 | 81.68 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-10 | no | 62.27 |
| E-ANND-3 | no | 2.22 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
57 targeting KBTBD4, 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-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-3134 | 100.00 | 66.43 | 777 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-518D-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-518E-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-518F-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-519A-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519B-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-519C-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-520C-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-522-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-523-5P | 100.00 | 67.66 | 954 |
| HSA-MIR-526A-5P | 100.00 | 67.51 | 979 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-544A | 99.84 | 68.66 | 1965 |
| HSA-MIR-6844 | 99.82 | 70.69 | 2423 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
| HSA-MIR-6505-5P | 99.73 | 69.25 | 1595 |
| HSA-MIR-149-3P | 99.72 | 68.22 | 3963 |
| HSA-MIR-6883-5P | 99.69 | 68.05 | 3785 |
| HSA-MIR-3660 | 99.68 | 67.33 | 1149 |
| HSA-MIR-4526 | 99.68 | 67.07 | 1136 |
Literature-anchored findings (GeneRIF, showing 3)
- Our findings suggest that KBTBD4 mutations are uncommon in Brazilian MBGRP3 and MBGRP4 medulloblastomas subgroups. (PMID:31403685)
- Role of proliferative marker index and KBTBD4 mutation in the pathological diagnosis of pineal parenchymal tumors. (PMID:35000018)
- Disease-associated KBTBD4 mutations in medulloblastoma elicit neomorphic ubiquitylation activity to promote CoREST degradation. (PMID:35379950)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | kbtbd4 | ENSDARG00000069271 |
| mus_musculus | Kbtbd4 | ENSMUSG00000005505 |
| rattus_norvegicus | Kbtbd4 | ENSRNOG00000009397 |
| drosophila_melanogaster | BTBD9 | FBGN0030228 |
| drosophila_melanogaster | CG17068 | FBGN0031098 |
| drosophila_melanogaster | lute | FBGN0262871 |
| caenorhabditis_elegans | WBGENE00015463 |
Paralogs (11): BTBD1 (ENSG00000064726), ABTB1 (ENSG00000114626), SPOP (ENSG00000121067), BTBD3 (ENSG00000132640), BTBD2 (ENSG00000133243), SPOPL (ENSG00000144228), ABTB3 (ENSG00000151136), ABTB2 (ENSG00000166016), KLHL11 (ENSG00000178502), BTBD9 (ENSG00000183826), BTBD6 (ENSG00000184887)
Protein
Protein identifiers
Kelch repeat and BTB domain-containing protein 4 — Q9NVX7 (reviewed: Q9NVX7)
Alternative names: BTB and kelch domain-containing protein 4
All UniProt accessions (7): E9PJ66, E9PJY1, E9PL18, E9PM58, Q9NVX7, E9PQ38, E9PSA4
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex which targets CoREST corepressor complex components RCOR1, KDM1A/LSD1 and HDAC2 for proteasomal degradation. RCOR1 is likely to be the primary target while degradation of KDM1A and HDAC2 is likely due to their association with RCOR1. Also targets RCOR3, MIER2 and MIER3 for proteasomal degradation as well as associated proteins ZNF217 and RREB1. Degradation is dependent on the presence of an ELM2 domain in the target proteins.
Subunit / interactions. Component of the BCR(KBTBD4) E3 ubiquitin ligase complex, at least composed of CUL3, KBTBD4 and RBX1.
Miscellaneous. As part of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex, mediates the effects of the small molecule UM171 in enhancing hematopoietic stem and progenitor cell expansion ex vivo by specifically targeting the CoREST repressor complex for proteasomal degradation.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NVX7-2 | 1 | yes |
| Q9NVX7-1 | 2 | |
| Q9NVX7-3 | 3 |
RefSeq proteins (12): NP_001305645, NP_001305646, NP_001305647, NP_001305648, NP_001305649, NP_001305650, NP_001305651, NP_001305652, NP_001305653, NP_001305654, NP_057590, NP_060565* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011498 | Kelch_2 | Repeat |
| IPR011705 | BACK | Domain |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
| IPR017096 | BTB-kelch_protein | Family |
| IPR042884 | KBTBD4 | Family |
| IPR042949 | KBTBD4_BTB_POZ | Domain |
| IPR042950 | KBTBD4_BACK | Domain |
Pfam: PF00651, PF07646, PF07707
UniProt features (83 total): strand 36, helix 18, turn 11, sequence conflict 6, repeat 5, domain 2, splice variant 2, chain 1, sequence variant 1, region of interest 1
Structure
Experimental structures (PDB)
10 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9GGM | ELECTRON MICROSCOPY | 2.71 |
| 9DTQ | ELECTRON MICROSCOPY | 2.87 |
| 9GGN | ELECTRON MICROSCOPY | 2.9 |
| 9GGL | ELECTRON MICROSCOPY | 3.13 |
| 8VPQ | ELECTRON MICROSCOPY | 3.3 |
| 9I2C | ELECTRON MICROSCOPY | 3.3 |
| 8VRT | ELECTRON MICROSCOPY | 3.42 |
| 8VOJ | ELECTRON MICROSCOPY | 3.77 |
| 9DTG | ELECTRON MICROSCOPY | 3.83 |
| 2EQX | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NVX7-F1 | 78.20 | 0.42 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, CACCAGC_MIR138, WANG_LMO4_TARGETS_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GTCAGGA_MIR378, GOBP_PROTEIN_CATABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, GOCC_TRANSFERASE_COMPLEX, GAL_LEUKEMIC_STEM_CELL_UP, LIU_SOX4_TARGETS_UP, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX, MGGAAGTG_GABP_B
GO Biological Process (0):
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| binding | 1 |
Protein interactions and networks
STRING
568 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KBTBD4 | PRDM6 | Q9NQX0 | 622 |
| KBTBD4 | ZMYM3 | Q14202 | 513 |
| KBTBD4 | SNCAIP | Q9Y6H5 | 464 |
| KBTBD4 | PTPMT1 | Q8WUK0 | 461 |
| KBTBD4 | MBLAC1 | A4D2B0 | 456 |
| KBTBD4 | RBM26 | Q5T8P6 | 449 |
| KBTBD4 | MTCH2 | Q9Y6C9 | 440 |
| KBTBD4 | ZC3H6 | P61129 | 425 |
| KBTBD4 | GFI1B | Q5VTD9 | 418 |
| KBTBD4 | ATOSA | Q32MH5 | 415 |
| KBTBD4 | NDUFS3 | O75489 | 388 |
| KBTBD4 | GFI1 | Q99684 | 367 |
| KBTBD4 | ISG20L2 | Q9H9L3 | 363 |
| KBTBD4 | KDM6A | O15550 | 349 |
| KBTBD4 | NDUFAF3 | Q9BU61 | 342 |
IntAct
20 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| KBTBD4 | KPNA5 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| BCL6 | CUL1 | psi-mi:“MI:0914”(association) | 0.530 |
| HSP90AB1 | KBTBD4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| MPG | ELP1 | psi-mi:“MI:0914”(association) | 0.350 |
| FUCA1 | psi-mi:“MI:0914”(association) | 0.350 | |
| CUL3 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.350 |
| FBXL17 | ENC1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL14 | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| MPP3 | KBTBD4 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (353): KBTBD4 (Affinity Capture-MS), KBTBD4 (Reconstituted Complex), CACUL1 (Affinity Capture-MS), KBTBD4 (Affinity Capture-MS), DDX11 (Affinity Capture-MS), CUL3 (Affinity Capture-MS), PEX6 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), CCT2 (Affinity Capture-MS), PI4K2B (Affinity Capture-MS), KPNA6 (Affinity Capture-MS), KPNA5 (Affinity Capture-MS), LZTR1 (Affinity Capture-MS), HSPA8 (Affinity Capture-MS), TCP1 (Affinity Capture-MS)
ESM2 similar proteins: A0A1B8YAB1, B1H285, B3DIV9, E9QIN8, E9QJ30, F1QEG2, O88879, Q08CL3, Q08CY1, Q0D2A9, Q13939, Q28068, Q3UQV5, Q3ZCT8, Q503R4, Q5F3N5, Q5R4S6, Q5R663, Q5RG82, Q5XHZ6, Q5XI58, Q5ZI33, Q69ZK5, Q6DFF7, Q6DFU2, Q6Q7X9, Q6V595, Q7ZVQ8, Q86V97, Q8BHI4, Q8BUL5, Q8BWA5, Q8CA72, Q8CDE2, Q8CE33, Q8IXQ5, Q8NAB2, Q8NFY9, Q8R179, Q8WVZ9
Diamond homologs: A0A072VIM5, A0A0K0PU92, A2CIR7, E7BQV0, G3LSH3, G8GTN7, Q05823, Q0JJ01, Q2HW56, Q2QXZ2, Q2RAQ5, Q5D0W8, Q5ICL9, Q5R4S6, Q75HA6, Q8L746, Q8R179, Q9FDY4, Q9M1I7, Q9N010, Q9NVX7, Q9ZVC2, S4VGD0, A0JN76, A1L4W5, A2AAX3, B1WBS3, B2RXF5, B7U179, D3YUB6, D3ZA50, O14867, O15062, O43167, P0DMR5, P0DMR6, P41182, P41183, P97303, Q0IJ29
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 19 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.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| protein ubiquitination | 5 | 12.2× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
78 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 58 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
583 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:47573787:TTTC:T | acceptor_gain | 1.0000 |
| 11:47573787:TTTCC:T | acceptor_loss | 1.0000 |
| 11:47573788:TTCC:T | acceptor_loss | 1.0000 |
| 11:47575587:CCTTA:C | donor_loss | 1.0000 |
| 11:47575588:CTTA:C | donor_loss | 1.0000 |
| 11:47575589:TTAC:T | donor_loss | 1.0000 |
| 11:47575590:TA:T | donor_loss | 1.0000 |
| 11:47575591:A:AC | donor_gain | 1.0000 |
| 11:47575592:C:CC | donor_gain | 1.0000 |
| 11:47575592:CCTT:C | donor_gain | 1.0000 |
| 11:47575696:CCAT:C | acceptor_gain | 1.0000 |
| 11:47575697:CAT:C | acceptor_gain | 1.0000 |
| 11:47575697:CATC:C | acceptor_gain | 1.0000 |
| 11:47575698:ATCTG:A | acceptor_loss | 1.0000 |
| 11:47575699:TCTGT:T | acceptor_loss | 1.0000 |
| 11:47575700:C:CC | acceptor_gain | 1.0000 |
| 11:47575700:C:CG | acceptor_loss | 1.0000 |
| 11:47575710:C:CT | acceptor_gain | 1.0000 |
| 11:47575710:C:T | acceptor_gain | 1.0000 |
| 11:47575711:A:T | acceptor_gain | 1.0000 |
| 11:47577406:CTTA:C | donor_loss | 1.0000 |
| 11:47577408:TA:T | donor_loss | 1.0000 |
| 11:47577409:A:AC | donor_gain | 1.0000 |
| 11:47577409:AC:A | donor_gain | 1.0000 |
| 11:47577409:ACCCG:A | donor_loss | 1.0000 |
| 11:47577410:C:CC | donor_gain | 1.0000 |
| 11:47577410:CC:C | donor_gain | 1.0000 |
| 11:47573788:TTC:T | acceptor_gain | 0.9900 |
| 11:47573791:C:CC | acceptor_gain | 0.9900 |
| 11:47573792:T:G | acceptor_loss | 0.9900 |
AlphaMissense
3491 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:47573415:A:G | W358R | 1.000 |
| 11:47573415:A:T | W358R | 1.000 |
| 11:47573413:C:A | W358C | 0.999 |
| 11:47573413:C:G | W358C | 0.999 |
| 11:47573414:C:G | W358S | 0.999 |
| 11:47573436:A:C | Y351D | 0.999 |
| 11:47573490:A:C | Y333D | 0.999 |
| 11:47573534:C:G | R318P | 0.999 |
| 11:47573563:C:A | W308C | 0.999 |
| 11:47573563:C:G | W308C | 0.999 |
| 11:47573565:A:G | W308R | 0.999 |
| 11:47573565:A:T | W308R | 0.999 |
| 11:47573615:C:A | G291V | 0.999 |
| 11:47573615:C:T | G291E | 0.999 |
| 11:47573625:A:C | Y288D | 0.999 |
| 11:47575655:A:G | W212R | 0.999 |
| 11:47575655:A:T | W212R | 0.999 |
| 11:47577539:G:T | A154E | 0.999 |
| 11:47577540:C:G | A154P | 0.999 |
| 11:47577620:A:G | L127P | 0.999 |
| 11:47577779:A:G | F74S | 0.999 |
| 11:47577791:A:G | F70S | 0.999 |
| 11:47577799:G:C | S67R | 0.999 |
| 11:47577799:G:T | S67R | 0.999 |
| 11:47577801:T:G | S67R | 0.999 |
| 11:47577812:A:G | L63P | 0.999 |
| 11:47577812:A:T | L63H | 0.999 |
| 11:47577821:C:G | R60P | 0.999 |
| 11:47573336:C:T | G384E | 0.998 |
| 11:47573337:C:A | G384W | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000147083 (11:47575986 G>A), RS1000243573 (11:47578514 C>G), RS1000332324 (11:47574850 ATCTC>A,ATC,ATCTCTC), RS1000458989 (11:47578743 G>A), RS1000771608 (11:47574021 C>T), RS1001335529 (11:47575467 A>C), RS1001981342 (11:47573244 A>C,G), RS1002290501 (11:47571968 T>G), RS1002317878 (11:47578999 AGAT>A), RS1002539493 (11:47579856 C>T), RS1002590039 (11:47576589 G>A), RS1002608455 (11:47578738 C>A,G,T), RS1002643822 (11:47576475 C>T), RS1003655609 (11:47574803 G>A), RS1004214589 (11:47579178 T>A,C)
Disease associations
OMIM: gene MIM:617645 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005232_56 | Neuroticism | 1.000000e-16 |
| GCST006923_11 | Loneliness | 1.000000e-07 |
| GCST006924_13 | Loneliness (MTAG) | 1.000000e-08 |
| GCST007293_118 | Body fat distribution (arm fat ratio) | 3.000000e-08 |
| GCST007293_19 | Body fat distribution (arm fat ratio) | 2.000000e-10 |
| GCST007293_45 | Body fat distribution (arm fat ratio) | 5.000000e-14 |
| GCST007294_28 | Body fat distribution (trunk fat ratio) | 6.000000e-09 |
| GCST007294_9 | Body fat distribution (trunk fat ratio) | 4.000000e-06 |
| GCST007295_159 | Body fat distribution (leg fat ratio) | 1.000000e-18 |
| GCST007295_24 | Body fat distribution (leg fat ratio) | 7.000000e-08 |
| GCST007295_50 | Body fat distribution (leg fat ratio) | 2.000000e-12 |
| GCST007559_27 | Sleep duration (short sleep) | 4.000000e-08 |
| GCST007825_4 | Alzheimer’s disease or fasting glucose levels (pleiotropy) | 3.000000e-16 |
| GCST008103_60 | Bipolar disorder | 5.000000e-07 |
| GCST008357_37 | Mood instability | 9.000000e-14 |
| GCST010136_2 | Fruit consumption | 5.000000e-09 |
| GCST010703_36 | Brain morphology (MOSTest) | 8.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007660 | neuroticism measurement |
| EFO:0007865 | loneliness measurement |
| EFO:0004341 | body fat distribution |
| EFO:0008475 | mood instability measurement |
| EFO:0008111 | diet measurement |
| EFO:0004346 | neuroimaging measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, decreases methylation | 7 |
| trichostatin A | decreases expression | 2 |
| sodium arsenite | increases abundance, increases expression, decreases expression | 2 |
| Cyclosporine | decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| cupric oxide | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| Leflunomide | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Phenylmercuric Acetate | decreases expression | 1 |
| Quercetin | decreases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | increases abundance, decreases expression | 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.