KLHL1
gene geneOn this page
Also known as KIAA1490MRP2FLJ30047
Summary
KLHL1 (kelch like family member 1, HGNC:6352) is a protein-coding gene on chromosome 13q21.33, encoding Kelch-like protein 1 (Q9NR64). May play a role in organizing the actin cytoskeleton of the brain cells.
The KLHL1 protein belongs to a family of actin-organizing proteins related to Drosophila Kelch (Nemes et al., 2000 [PubMed 10888605]).
Source: NCBI Gene 57626 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 103 total
- MANE Select transcript:
NM_020866
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6352 |
| Approved symbol | KLHL1 |
| Name | kelch like family member 1 |
| Location | 13q21.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1490, MRP2, FLJ30047 |
| Ensembl gene | ENSG00000150361 |
| Ensembl biotype | protein_coding |
| OMIM | 605332 |
| Entrez | 57626 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000377844, ENST00000545028
RefSeq mRNA: 2 — MANE Select: NM_020866
NM_001286725, NM_020866
CCDS: CCDS73582, CCDS9445
Canonical transcript exons
ENST00000377844 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001095132 | 69740394 | 69740556 |
| ENSE00001095136 | 69796738 | 69796962 |
| ENSE00001095138 | 69975620 | 69975802 |
| ENSE00001095140 | 69707625 | 69707796 |
| ENSE00001095142 | 69940040 | 69940236 |
| ENSE00001095143 | 69961308 | 69961444 |
| ENSE00001095146 | 69838976 | 69839162 |
| ENSE00001095148 | 69719369 | 69719581 |
| ENSE00001095150 | 69882283 | 69882495 |
| ENSE00001475337 | 70107203 | 70108452 |
| ENSE00003845273 | 69700597 | 69701761 |
Expression profiles
Bgee: expression breadth broad, 60 present calls, max score 95.98.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.5714 / max 142.4535, expressed in 88 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 137535 | 0.3329 | 69 |
| 137534 | 0.1917 | 33 |
| 137536 | 0.0468 | 18 |
Top tissues by expression
262 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| substantia nigra pars reticulata | UBERON:0001966 | 95.98 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 94.98 | gold quality |
| cortical plate | UBERON:0005343 | 94.26 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.26 | gold quality |
| substantia nigra | UBERON:0002038 | 76.62 | gold quality |
| midbrain | UBERON:0001891 | 75.98 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 74.09 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 70.75 | gold quality |
| ventral tegmental area | UBERON:0002691 | 69.55 | gold quality |
| pons | UBERON:0000988 | 69.54 | gold quality |
| hypothalamus | UBERON:0001898 | 68.83 | gold quality |
| buccal mucosa cell | CL:0002336 | 68.74 | gold quality |
| islet of Langerhans | UBERON:0000006 | 63.65 | gold quality |
| triceps brachii | UBERON:0001509 | 61.92 | gold quality |
| ganglionic eminence | UBERON:0004023 | 60.91 | gold quality |
| medulla oblongata | UBERON:0001896 | 60.82 | gold quality |
| prefrontal cortex | UBERON:0000451 | 59.98 | gold quality |
| gluteal muscle | UBERON:0002000 | 59.63 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 59.54 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 58.28 | gold quality |
| cingulate cortex | UBERON:0003027 | 58.27 | gold quality |
| cerebellar vermis | UBERON:0004720 | 57.98 | gold quality |
| nucleus accumbens | UBERON:0001882 | 57.30 | gold quality |
| cerebellum | UBERON:0002037 | 56.52 | gold quality |
| biceps brachii | UBERON:0001507 | 56.31 | gold quality |
| deltoid | UBERON:0001476 | 56.20 | gold quality |
| amygdala | UBERON:0001876 | 56.19 | gold quality |
| cerebellar cortex | UBERON:0002129 | 56.05 | gold quality |
| ventricular zone | UBERON:0003053 | 55.90 | gold quality |
| embryo | UBERON:0000922 | 55.87 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 1568.02 |
| E-ANND-3 | yes | 4.25 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): PITX3
miRNA regulators (miRDB)
72 targeting KLHL1, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
| HSA-MIR-1305 | 99.91 | 71.43 | 3443 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-369-3P | 99.85 | 70.52 | 2264 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-374C-5P | 99.80 | 72.06 | 2910 |
| HSA-MIR-655-3P | 99.80 | 72.19 | 2909 |
| HSA-MIR-4719 | 99.73 | 72.10 | 3329 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-7156-5P | 99.64 | 68.81 | 1369 |
Literature-anchored findings (GeneRIF, showing 6)
- This study provides, for the first time, insights into the involvement of MRP2 in neurite outgrowth, which occurs in a GSK3beta-dependent manner. (PMID:16982692)
- modulatory effect of KLHL1 on the P/Q-type calcium channel function, suggesting a possible novel role for KLHL1 in cellular excitability. (PMID:17289272)
- KLHL1 was expressed in human brain and kidney, but was also in other tissues, such as prostate gland, small intestine, colon, testis (but not the ovaries), liver and pancreas. (PMID:18708037)
- KLHL1 interacts with Cav3.2 and modulates T-type calcium currents by increasing current deactivation kinetics and current density and calcium influx. (PMID:20147652)
- Renal transplant recipients T carriers of C24T MRP2 with macrolides treatment were associated with reduced mycophenolic acid area under curve in steady-state conditions (PMID:21427078)
- Genetic Risk of Trigger Finger: Results of a Genomewide Association Study. (PMID:32740585)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Klhl1 | ENSMUSG00000022076 |
| rattus_norvegicus | Klhl1 | ENSRNOG00000031100 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL18 (ENSG00000114648), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), BACH1 (ENSG00000156273), KLHL40 (ENSG00000157119), KLHL10 (ENSG00000161594), KLHL21 (ENSG00000162413), KLHDC8A (ENSG00000162873), KBTBD8 (ENSG00000163376), KBTBD6 (ENSG00000165572), KLHL26 (ENSG00000167487), KLHL30 (ENSG00000168427), KBTBD2 (ENSG00000170852), KLHL6 (ENSG00000172578), KLHL15 (ENSG00000174010), KLHL38 (ENSG00000175946), KBTBD11 (ENSG00000176595), KLHDC7A (ENSG00000179023), KLHL28 (ENSG00000179454), KBTBD3 (ENSG00000182359), KLHL33 (ENSG00000185271)
Protein
Protein identifiers
Kelch-like protein 1 — Q9NR64 (reviewed: Q9NR64)
All UniProt accessions (2): Q9NR64, F5H1J3
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in organizing the actin cytoskeleton of the brain cells.
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Highly expressed in brain.
RefSeq proteins (2): NP_001273654, NP_065917* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000210 | BTB/POZ_dom | Domain |
| IPR006652 | Kelch_1 | Repeat |
| IPR011333 | SKP1/BTB/POZ_sf | Homologous_superfamily |
| IPR011705 | BACK | Domain |
| IPR015915 | Kelch-typ_b-propeller | Homologous_superfamily |
Pfam: PF00651, PF01344, PF07707
UniProt features (13 total): repeat 6, compositionally biased region 3, region of interest 2, chain 1, domain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NR64-F1 | 79.15 | 0.68 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 135 (showing top):
chr13q21, GOBP_DENDRITE_DEVELOPMENT, GOBP_HINDBRAIN_DEVELOPMENT, GOBP_METENCEPHALON_DEVELOPMENT, BENPORATH_ES_WITH_H3K27ME3, GOBP_BEHAVIOR, NKX25_02, GOBP_ADULT_BEHAVIOR, AREB6_03, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_NEUROGENESIS, GOBP_ADULT_LOCOMOTORY_BEHAVIOR, CAGCTG_AP4_Q5, EFC_Q6, FOXD3_01
GO Biological Process (6): adult walking behavior (GO:0007628), dendrite development (GO:0016358), cerebellar Purkinje cell layer development (GO:0021680), actin cytoskeleton organization (GO:0030036), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), locomotory behavior (GO:0007626)
GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (5): cytoplasm (GO:0005737), cytoskeleton (GO:0005856), dendrite (GO:0030425), Cul3-RING ubiquitin ligase complex (GO:0031463), neuronal cell body (GO:0043025)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| anatomical structure development | 2 |
| adult locomotory behavior | 1 |
| walking behavior | 1 |
| neuron projection development | 1 |
| cerebellar cortex development | 1 |
| cytoskeleton organization | 1 |
| actin filament-based process | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| behavior | 1 |
| cytoskeletal protein binding | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| intracellular membraneless organelle | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| somatodendritic compartment | 1 |
| cell body | 1 |
Protein interactions and networks
STRING
1124 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHL1 | SOCS6 | O14544 | 764 |
| KLHL1 | MEA1 | Q16626 | 761 |
| KLHL1 | TWNK | Q96RR1 | 699 |
| KLHL1 | DSC3 | Q14574 | 667 |
| KLHL1 | DSC2 | Q02487 | 648 |
| KLHL1 | CALB1 | P05937 | 549 |
| KLHL1 | PPP2R5D | Q14738 | 496 |
| KLHL1 | TTPA | P49638 | 468 |
| KLHL1 | BORA | Q6PGQ7 | 447 |
| KLHL1 | CACNA1H | O95180 | 444 |
| KLHL1 | SLC6A11 | P48066 | 436 |
| KLHL1 | TAF1 | P21675 | 426 |
| KLHL1 | MZT1 | Q08AG7 | 404 |
| KLHL1 | OR5K3 | A6NET4 | 400 |
| KLHL1 | ATXN3 | P54252 | 392 |
IntAct
21 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLHL5 | CUL3 | psi-mi:“MI:0914”(association) | 0.800 |
| KLHL1 | VHL | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL1 | CUL3 | psi-mi:“MI:0914”(association) | 0.560 |
| CUL3 | KLHL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL1 | NUDCD3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HSP90AB1 | KLHL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| FKBP5 | KLHL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLHL1 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| KLHL1 | HSP90AA1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| CACYBP | KLHL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NUDCD2 | KLHL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| NEK4 | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL4 | CUL1 | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | ZBTB24 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL1 | SNX2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (25): KLHL1 (PCA), KLHL1 (Affinity Capture-MS), KLHL1 (Affinity Capture-Western), ARHGEF7 (Affinity Capture-MS), RNASEH2A (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), GIT1 (Affinity Capture-MS), SNX2 (Affinity Capture-MS), SNX1 (Affinity Capture-MS), SNX6 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), MISP (Affinity Capture-MS), KLHL1 (Affinity Capture-MS), KLHL1 (Negative Genetic), CUL3 (Affinity Capture-Western)
ESM2 similar proteins: A1A5C7, A5D7B1, A6H7A0, A6NCF5, A6QLN9, A8MUP2, D3YYU8, D3ZZ80, O43688, O75147, O88843, P08887, Q14CX5, Q3SZQ2, Q3UHH2, Q58CT4, Q5EA19, Q5R4Q7, Q5R7S9, Q5RCI5, Q5RFN0, Q5SP67, Q5SUV1, Q642A6, Q6IA17, Q6PCB0, Q7TPB4, Q86TI4, Q8BGR6, Q8BZI6, Q8K5A4, Q8N5I2, Q8N653, Q8R2Z5, Q8TBF2, Q8VE98, Q92737, Q969P0, Q96NJ5, Q96NT3
Diamond homologs: A0A1B8YAB1, A1YPR0, B0WWP2, B1H285, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, C9JR72, D3Z8N4, E0CZ16, G3X9X1, O15062, O88939, O93567, O95365, P28575, P41182, P41183, Q08CL3, Q08DK3, Q13105, Q16RL8, Q2M0J9, Q3UQV5, Q52KB5, Q5EXX3, Q5R7B8, Q5RDY3, Q5TC79, Q5ZI33, Q5ZKD9, Q5ZM39, Q60821
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 15 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 folding | 6 | 41.4× | 5e-07 |
| proteasome-mediated ubiquitin-dependent protein catabolic process | 5 | 17.4× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 89 |
| Likely benign | 2 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3668 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 13:69711179:T:A | donor_gain | 1.0000 |
| 13:69740388:A:AC | donor_gain | 1.0000 |
| 13:69740389:C:CC | donor_gain | 1.0000 |
| 13:69740389:CTTA:C | donor_gain | 1.0000 |
| 13:69740390:TTAC:T | donor_loss | 1.0000 |
| 13:69740391:TACT:T | donor_loss | 1.0000 |
| 13:69740392:A:AC | donor_gain | 1.0000 |
| 13:69740392:A:T | donor_loss | 1.0000 |
| 13:69740393:C:CT | donor_gain | 1.0000 |
| 13:69740393:CT:C | donor_gain | 1.0000 |
| 13:69740393:CTT:C | donor_gain | 1.0000 |
| 13:69740393:CTTG:C | donor_gain | 1.0000 |
| 13:69740556:CCTAA:C | acceptor_loss | 1.0000 |
| 13:69740557:CTA:C | acceptor_loss | 1.0000 |
| 13:69796732:TCTTA:T | donor_loss | 1.0000 |
| 13:69796733:CTTAC:C | donor_loss | 1.0000 |
| 13:69796734:TTAC:T | donor_loss | 1.0000 |
| 13:69796735:TACC:T | donor_loss | 1.0000 |
| 13:69796736:A:C | donor_loss | 1.0000 |
| 13:69796737:C:T | donor_loss | 1.0000 |
| 13:69796739:TAG:T | donor_gain | 1.0000 |
| 13:69796740:AGA:A | donor_gain | 1.0000 |
| 13:69796960:CTC:C | acceptor_gain | 1.0000 |
| 13:69839158:AATAT:A | acceptor_gain | 1.0000 |
| 13:69839159:ATAT:A | acceptor_gain | 1.0000 |
| 13:69839160:TAT:T | acceptor_gain | 1.0000 |
| 13:69839161:AT:A | acceptor_gain | 1.0000 |
| 13:69839163:C:CC | acceptor_gain | 1.0000 |
| 13:69839164:T:A | acceptor_loss | 1.0000 |
| 13:69859422:C:CA | donor_gain | 1.0000 |
AlphaMissense
4919 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 13:69701738:T:A | R737S | 1.000 |
| 13:69701738:T:G | R737S | 1.000 |
| 13:69707631:C:A | W727C | 1.000 |
| 13:69707631:C:G | W727C | 1.000 |
| 13:69707632:C:G | W727S | 1.000 |
| 13:69707633:A:G | W727R | 1.000 |
| 13:69707633:A:T | W727R | 1.000 |
| 13:69707654:A:C | Y720D | 1.000 |
| 13:69707692:C:T | G707D | 1.000 |
| 13:69707693:C:G | G707R | 1.000 |
| 13:69707695:C:T | G706D | 1.000 |
| 13:69707774:A:G | W680R | 1.000 |
| 13:69707774:A:T | W680R | 1.000 |
| 13:69707795:A:C | Y673D | 1.000 |
| 13:69719423:C:T | G654D | 1.000 |
| 13:69719426:C:T | G653E | 1.000 |
| 13:69719473:T:A | R637S | 1.000 |
| 13:69719473:T:G | R637S | 1.000 |
| 13:69719503:C:A | W627C | 1.000 |
| 13:69719503:C:G | W627C | 1.000 |
| 13:69719504:C:G | W627S | 1.000 |
| 13:69719505:A:G | W627R | 1.000 |
| 13:69719505:A:T | W627R | 1.000 |
| 13:69719561:C:G | R608P | 1.000 |
| 13:69719564:C:A | G607V | 1.000 |
| 13:69719564:C:T | G607D | 1.000 |
| 13:69719565:C:G | G607R | 1.000 |
| 13:69719567:C:A | G606V | 1.000 |
| 13:69719567:C:T | G606E | 1.000 |
| 13:69719568:C:G | G606R | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004502 (13:69867951 A>G), RS1000008022 (13:69708585 A>T), RS1000018997 (13:69979339 T>G), RS1000041566 (13:69902547 A>G), RS1000047300 (13:69882062 T>A), RS1000047650 (13:70015928 C>T), RS1000049433 (13:70000505 T>C), RS1000049849 (13:69761405 G>C), RS1000055663 (13:69797577 G>A), RS1000062985 (13:69762773 C>A,T), RS1000076964 (13:69757371 C>T), RS1000080989 (13:69724044 G>A), RS1000084029 (13:69876306 T>C), RS1000084814 (13:69720161 G>A,C,T), RS1000090988 (13:69837481 A>G)
Disease associations
OMIM: gene MIM:605332 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000477_31 | Cognitive performance | 8.000000e-06 |
| GCST001324_5 | Bilirubin levels | 7.000000e-06 |
| GCST001651_85 | Response to amphetamines | 8.000000e-07 |
| GCST001762_182 | Obesity-related traits | 2.000000e-06 |
| GCST001762_519 | Obesity-related traits | 2.000000e-06 |
| GCST002251_7 | Homeostasis model assessment of beta-cell function (dietary factor interaction) | 4.000000e-07 |
| GCST002701_13 | Verbal declarative memory | 4.000000e-06 |
| GCST003817_12 | Mortality in sepsis | 3.000000e-07 |
| GCST003992_43 | Photic sneeze reflex | 6.000000e-15 |
| GCST003995_14 | Tonsillectomy | 2.000000e-11 |
| GCST005014_151 | Tonsillectomy | 2.000000e-11 |
| GCST007576_72 | Chronotype | 2.000000e-12 |
| GCST008181_16 | Spontaneous preterm birth without premature rupture of membranes | 9.000000e-06 |
| GCST009236_1 | Asthma (time to childhood onset) in early life tobacco smoke exposure | 2.000000e-06 |
| GCST009238_2 | Asthma (time to childhood onset) x early life tobacco smoke interaction | 4.000000e-08 |
| GCST009543_1 | Cleft lip with or without cleft palate x maternal periconceptional vitamin use interaction (parent of origin effect) | 8.000000e-06 |
| GCST010732_5 | Sensory peripheral neuropathy in microtubule targeting agent-treated breast cancer | 2.000000e-06 |
| GCST011318_1 | Trigger finger | 2.000000e-10 |
EFO canonical traits (19, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003926 | neuropsychological test |
| EFO:0004570 | bilirubin measurement |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004469 | HOMA-B |
| EFO:0008111 | diet measurement |
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0004352 | mortality |
| EFO:0007887 | autosomal dominant compelling helio-ophthalmic outburst syndrome |
| EFO:0007924 | tonsillectomy risk measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0006917 | spontaneous preterm birth |
| EFO:0004847 | age at onset |
| EFO:0008361 | environmental tobacco smoke exposure measurement |
| EFO:0003959 | cleft lip |
| EFO:0005939 | parental genotype effect measurement |
| EFO:0009116 | vitamin supplement exposure measurement |
| EFO:0005260 | response to antimicrotubule agent |
| EFO:0010822 | stenosing tenosynovitis |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
11 total (human), top 11 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | decreases expression | 2 |
| Aflatoxin B1 | increases methylation, decreases methylation | 2 |
| sodium arsenite | affects methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects cotreatment, increases expression | 1 |
| entinostat | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Lipopolysaccharides | affects cotreatment, increases expression | 1 |
| Antirheumatic Agents | increases expression | 1 |
| Okadaic Acid | 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.