KLHL29
gene geneOn this page
Also known as KIAA1921
Summary
KLHL29 (kelch like family member 29, HGNC:29404) is a protein-coding gene on chromosome 2p24.1, encoding Kelch-like protein 29 (Q96CT2).
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 114818 — RefSeq curated summary.
At a glance
- GWAS associations: 37
- Clinical variants (ClinVar): 73 total
- MANE Select transcript:
NM_052920
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29404 |
| Approved symbol | KLHL29 |
| Name | kelch like family member 29 |
| Location | 2p24.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1921 |
| Ensembl gene | ENSG00000119771 |
| Ensembl biotype | protein_coding |
| Entrez | 114818 |
Gene structure
Transcript identifiers
Ensembl transcripts: 8 — 6 protein_coding, 2 retained_intron
ENST00000288548, ENST00000471654, ENST00000486442, ENST00000489446, ENST00000869654, ENST00000970997, ENST00000970998, ENST00000970999
RefSeq mRNA: 1 — MANE Select: NM_052920
NM_052920
CCDS: CCDS54335
Canonical transcript exons
ENST00000486442 — 14 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001034578 | 23684399 | 23684537 |
| ENSE00001070703 | 23691674 | 23691876 |
| ENSE00001821418 | 23642338 | 23642850 |
| ENSE00001838941 | 23475560 | 23475667 |
| ENSE00001877282 | 23706481 | 23708606 |
| ENSE00001887860 | 23385179 | 23385780 |
| ENSE00003482543 | 23695951 | 23696133 |
| ENSE00003517832 | 23562152 | 23562481 |
| ENSE00003545220 | 23695623 | 23695821 |
| ENSE00003546964 | 23703719 | 23703863 |
| ENSE00003604677 | 23639139 | 23639280 |
| ENSE00003606781 | 23696333 | 23696513 |
| ENSE00003618064 | 23693269 | 23693528 |
| ENSE00003694119 | 23703186 | 23703379 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 91.98.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.1269 / max 51.3915, expressed in 1284 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 19153 | 2.1968 | 1105 |
| 19154 | 1.9301 | 836 |
Top tissues by expression
290 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| tibia | UBERON:0000979 | 91.98 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 90.71 | gold quality |
| sural nerve | UBERON:0015488 | 90.56 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.37 | gold quality |
| synovial joint | UBERON:0002217 | 87.68 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 87.51 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 86.09 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 85.11 | gold quality |
| skin of hip | UBERON:0001554 | 84.03 | gold quality |
| cortical plate | UBERON:0005343 | 83.97 | gold quality |
| endothelial cell | CL:0000115 | 83.61 | silver quality |
| nerve | UBERON:0001021 | 83.60 | gold quality |
| tibial nerve | UBERON:0001323 | 83.60 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 83.06 | gold quality |
| lower esophagus | UBERON:0013473 | 82.98 | gold quality |
| calcaneal tendon | UBERON:0003701 | 82.73 | gold quality |
| dorsal root ganglion | UBERON:0000044 | 82.48 | gold quality |
| parietal pleura | UBERON:0002400 | 82.24 | gold quality |
| adrenal cortex | UBERON:0001235 | 82.21 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 81.58 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 81.49 | gold quality |
| upper leg skin | UBERON:0004262 | 81.29 | gold quality |
| urethra | UBERON:0000057 | 81.23 | gold quality |
| saphenous vein | UBERON:0007318 | 81.18 | gold quality |
| gastrocnemius | UBERON:0001388 | 81.05 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 81.00 | gold quality |
| left adrenal gland | UBERON:0001234 | 80.97 | gold quality |
| primary visual cortex | UBERON:0002436 | 80.83 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 80.80 | gold quality |
| postcentral gyrus | UBERON:0002581 | 80.75 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-119 | yes | 31.22 |
| E-ANND-3 | no | 4.53 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): NR1I2
miRNA regulators (miRDB)
225 targeting KLHL29, 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-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| 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 |
Literature-anchored findings (GeneRIF, showing 3)
- The fusion transcript NR5A2-KLHL29FT was identified in normal and cancerous colonic epithelia. It is due to an uncharacterized polymorphic germline insertion of the NR5A2 sequence from chromosome 1 into the KLHL29 locus at chromosome 2, rather than a chromosomal rearrangement. NR5A2-KLH29FT expression levels were significantly lower in colon cancers than in matched normal colonic epithelia. (PMID:28081303)
- Brazilian Amerindian ancestry compared to Asian, European, and African Genomes.SNPs within or proximal to CIITA (rs6498115), SMC6 (rs1834619), and KLHL29 (rs2288697) were most differentiated in the Amerindian-specific branch. SNPs in ADAMTS9 (rs7631391), DOCK2 (rs77594147), SLC28A1 (rs28649017), ARHGAP5 (rs7151991), and CIITA (rs45601437) in the Asian comparison. (PMID:28100790)
- KLHL29-mediated DDX3X degradation promotes chemosensitivity by abrogating cell cycle checkpoint in triple-negative breast cancer. (PMID:37845393)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | KLHL29 | ENSDARG00000043799 |
| danio_rerio | klhl29 | ENSDARG00000087688 |
| mus_musculus | Klhl29 | ENSMUSG00000020627 |
| rattus_norvegicus | Klhl29 | ENSRNOG00000005371 |
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), KBTBD7 (ENSG00000120696), KLHL7 (ENSG00000122550), KLHL31 (ENSG00000124743), KLHDC7B (ENSG00000130487), KLHL36 (ENSG00000135686), KLHL8 (ENSG00000145332), KLHL3 (ENSG00000146021), KLHL35 (ENSG00000149243), KLHL1 (ENSG00000150361), 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 29 — Q96CT2 (reviewed: Q96CT2)
Alternative names: Kelch repeat and BTB domain-containing protein 9
All UniProt accessions (2): Q96CT2, H0Y2P5
UniProt curated annotations — full annotation on UniProt →
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96CT2-1 | 1 | yes |
| Q96CT2-2 | 2 |
RefSeq proteins (1): NP_443152* (*=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 |
| IPR056737 | Beta-prop_ATRN-MKLN-like | Domain |
Pfam: PF00651, PF01344, PF07707, PF24981
UniProt features (14 total): repeat 6, compositionally biased region 2, region of interest 2, chain 1, domain 1, splice variant 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96CT2-F1 | 71.27 | 0.43 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 140 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_UP, GSE37336_LY6C_POS_VS_NEG_NAIVE_CD4_TCELL_UP, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, PEREZ_TP63_TARGETS, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, LIAO_METASTASIS, CHARAFE_BREAST_CANCER_LUMINAL_VS_BASAL_DN, GOBP_PROTEASOMAL_PROTEIN_CATABOLIC_PROCESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_PROTEIN_CATABOLIC_PROCESS, GOCC_TRANSFERASE_COMPLEX, GOBP_PROTEOLYSIS, GOCC_CULLIN_RING_UBIQUITIN_LIGASE_COMPLEX, GOCC_CUL3_RING_UBIQUITIN_LIGASE_COMPLEX
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (2): ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (2): cytoplasm (GO:0005737), Cul3-RING ubiquitin ligase complex (GO:0031463)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
Protein interactions and networks
STRING
526 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHL29 | FBXO46 | Q6PJ61 | 479 |
| KLHL29 | ABHD15 | Q6UXT9 | 463 |
| KLHL29 | A0A0G2JMU2 | A0A0G2JMU2 | 435 |
| KLHL29 | POTEB3 | A0JP26 | 423 |
| KLHL29 | CIMIP6 | Q8N5S3 | 398 |
| KLHL29 | FRMD4A | Q9P2Q2 | 384 |
| KLHL29 | CIMAP1C | Q8IXM7 | 382 |
| KLHL29 | CFAP68 | Q9H5F2 | 380 |
| KLHL29 | THOC7 | Q6I9Y2 | 378 |
| KLHL29 | OR2C3 | Q8N628 | 377 |
| KLHL29 | FBXW5 | Q969U6 | 366 |
| KLHL29 | MINDY4 | Q4G0A6 | 353 |
| KLHL29 | GPATCH11 | Q8N954 | 349 |
| KLHL29 | DENND4C | Q5VZ89 | 344 |
| KLHL29 | CEACAM18 | A8MTB9 | 342 |
IntAct
11 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLHL29 | NUDCD3 | psi-mi:“MI:0915”(physical association) | 0.670 |
| KLHL9 | ENC1 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL29 | HSP90AB1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| ZNF232 | ZNF197 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL29 | NPHP3 | psi-mi:“MI:0914”(association) | 0.350 |
| rep | VWA8 | psi-mi:“MI:0914”(association) | 0.350 |
| ZBTB7C | ZBTB5 | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL29 | TRIM32 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (46): KBTBD8 (Affinity Capture-MS), ZBTB10 (Affinity Capture-MS), NPHP3 (Affinity Capture-MS), KLHL29 (Affinity Capture-MS), KLHL21 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS), KLHL29 (Affinity Capture-RNA), KLHL29 (Affinity Capture-RNA), KLHL29 (Affinity Capture-Western), ZBTB10 (Affinity Capture-MS), KLHL29 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), NPHP3 (Affinity Capture-MS), KBTBD7 (Affinity Capture-MS)
ESM2 similar proteins: D3ZB51, E9PZ19, M0RAS4, O60242, O60245, O70472, O75882, O94779, P13590, P13591, P13595, P13596, P15209, P24786, P31836, P51641, P68500, P78539, P97300, P97527, P97546, Q01973, Q03351, Q15223, Q16288, Q16620, Q5IFJ9, Q5IS37, Q5IS82, Q63604, Q63769, Q6A051, Q6AZB0, Q6P1D5, Q6VNS1, Q7TNR6, Q80T74, Q80ZF8, Q8R4I7, Q8TDF5
Diamond homologs: A0JN76, A1L2U9, A1YPR0, B1WAZ8, B1WBS3, B1WBU4, B2RXF5, E1B932, G5E8B9, O14867, O15062, O43167, O43298, O88282, O88939, O93567, O95365, O95625, P10074, P28575, P41182, P41183, P52739, P97302, P97303, Q0IH98, Q0IJ29, Q0P4X6, Q0VCJ6, Q13105, Q14526, Q1H9T6, Q1L8W0, Q3B725, Q3B7M1, Q3B7N9, Q3SWU4, Q3ZB90, Q503R4, Q53G59
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
73 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4573 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:23445146:GGCAT:G | donor_gain | 1.0000 |
| 2:23475558:A:AG | acceptor_gain | 1.0000 |
| 2:23475559:G:GG | acceptor_gain | 1.0000 |
| 2:23475664:CAAG:C | donor_loss | 1.0000 |
| 2:23475665:AAGG:A | donor_loss | 1.0000 |
| 2:23475667:GGT:G | donor_loss | 1.0000 |
| 2:23475668:G:GA | donor_loss | 1.0000 |
| 2:23475669:T:A | donor_loss | 1.0000 |
| 2:23562147:CACA:C | acceptor_loss | 1.0000 |
| 2:23562149:CAG:C | acceptor_loss | 1.0000 |
| 2:23562150:A:AT | acceptor_loss | 1.0000 |
| 2:23562478:CAAGG:C | donor_loss | 1.0000 |
| 2:23562479:AAGG:A | donor_loss | 1.0000 |
| 2:23562481:GGT:G | donor_loss | 1.0000 |
| 2:23562482:GT:G | donor_loss | 1.0000 |
| 2:23562483:T:A | donor_loss | 1.0000 |
| 2:23691875:CGG:C | donor_loss | 1.0000 |
| 2:23691877:G:A | donor_loss | 1.0000 |
| 2:23691877:G:GG | donor_gain | 1.0000 |
| 2:23691878:T:A | donor_loss | 1.0000 |
| 2:23693524:CACAG:C | donor_loss | 1.0000 |
| 2:23693526:CAGG:C | donor_loss | 1.0000 |
| 2:23693527:AGG:A | donor_loss | 1.0000 |
| 2:23693528:GG:G | donor_loss | 1.0000 |
| 2:23693529:GT:G | donor_loss | 1.0000 |
| 2:23693530:T:G | donor_loss | 1.0000 |
| 2:23695614:A:AG | acceptor_gain | 1.0000 |
| 2:23695617:CTGCA:C | acceptor_loss | 1.0000 |
| 2:23695618:TGCA:T | acceptor_loss | 1.0000 |
| 2:23695619:GCA:G | acceptor_loss | 1.0000 |
AlphaMissense
5688 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:23642826:T:C | F306L | 1.000 |
| 2:23642827:T:C | F306S | 1.000 |
| 2:23642828:C:A | F306L | 1.000 |
| 2:23642828:C:G | F306L | 1.000 |
| 2:23684425:C:A | R323S | 1.000 |
| 2:23684426:G:C | R323P | 1.000 |
| 2:23684450:T:C | L331P | 1.000 |
| 2:23684485:C:G | H343D | 1.000 |
| 2:23684495:T:A | V346D | 1.000 |
| 2:23684509:A:C | S351R | 1.000 |
| 2:23684511:C:A | S351R | 1.000 |
| 2:23684511:C:G | S351R | 1.000 |
| 2:23691765:T:C | F391L | 1.000 |
| 2:23691767:T:A | F391L | 1.000 |
| 2:23691767:T:G | F391L | 1.000 |
| 2:23691870:T:C | F426L | 1.000 |
| 2:23691872:T:A | F426L | 1.000 |
| 2:23691872:T:G | F426L | 1.000 |
| 2:23693313:G:C | A443P | 1.000 |
| 2:23693496:T:A | W504R | 1.000 |
| 2:23693496:T:C | W504R | 1.000 |
| 2:23695648:T:A | V523D | 1.000 |
| 2:23695650:C:A | R524S | 1.000 |
| 2:23695678:T:C | L533P | 1.000 |
| 2:23695681:T:C | L534P | 1.000 |
| 2:23695690:T:A | V537D | 1.000 |
| 2:23695729:G:C | R550P | 1.000 |
| 2:23695735:T:C | L552P | 1.000 |
| 2:23695746:G:C | A556P | 1.000 |
| 2:23695747:C:A | A556D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000005592 (2:23603894 G>A), RS1000008316 (2:23589054 C>A,G,T), RS1000011375 (2:23471710 T>G), RS1000028249 (2:23461268 G>A), RS1000028844 (2:23668973 G>A), RS1000036189 (2:23640654 C>T), RS1000040584 (2:23686261 G>A), RS1000057867 (2:23554116 G>A), RS1000059878 (2:23668680 G>A), RS1000071940 (2:23478443 T>C), RS1000072094 (2:23391852 A>G), RS1000075843 (2:23697369 G>A), RS1000082549 (2:23626829 T>G), RS1000089104 (2:23519079 G>T), RS1000089804 (2:23460115 T>C,G)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
37 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000973_4 | Hypertension | 1.000000e-07 |
| GCST001066_1 | Dialysis-related mortality | 8.000000e-08 |
| GCST001762_398 | Obesity-related traits | 6.000000e-07 |
| GCST001762_415 | Obesity-related traits | 4.000000e-06 |
| GCST003542_1 | Night sleep phenotypes | 6.000000e-06 |
| GCST004601_16 | Red blood cell count | 2.000000e-21 |
| GCST004604_20 | Hematocrit | 6.000000e-09 |
| GCST004607_212 | Plateletcrit | 7.000000e-11 |
| GCST004608_50 | Granulocyte percentage of myeloid white cells | 2.000000e-10 |
| GCST004615_89 | Hemoglobin concentration | 2.000000e-10 |
| GCST004723_20 | Conotruncal heart defects (maternal effects) | 7.000000e-06 |
| GCST006626_27 | Pulse pressure | 1.000000e-11 |
| GCST006631_32 | Nicotine dependence and major depression (severity of comorbidity) | 8.000000e-07 |
| GCST006922_5 | Regular attendance at a religious group | 8.000000e-09 |
| GCST006943_64 | Feeling miserable | 3.000000e-08 |
| GCST006945_25 | Feeling guilty | 2.000000e-09 |
| GCST006947_34 | Feeling fed-up | 2.000000e-12 |
| GCST007325_177 | General risk tolerance (MTAG) | 1.000000e-08 |
| GCST007325_29 | General risk tolerance (MTAG) | 4.000000e-08 |
| GCST007326_92 | Number of sexual partners | 7.000000e-13 |
| GCST007709_5 | General factor of neuroticism | 1.000000e-08 |
| GCST008034_16 | Hemoglobin A1c levels | 5.000000e-09 |
| GCST008034_7 | Hemoglobin A1c levels | 4.000000e-11 |
| GCST008362_99 | Birth weight | 2.000000e-16 |
| GCST008749_1 | Systolic blood pressure | 7.000000e-07 |
| GCST010083_273 | Hemoglobin levels | 3.000000e-12 |
| GCST010480_2 | Coronary artery disease | 1.000000e-10 |
| GCST011038_4 | Parkinson’s disease progression (motor) | 3.000000e-06 |
| GCST011494_91 | Daytime nap | 4.000000e-20 |
| GCST90000025_797 | Appendicular lean mass | 2.000000e-68 |
EFO canonical traits (25, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0003940 | physical activity |
| EFO:0004305 | erythrocyte count |
| EFO:0004348 | hematocrit |
| EFO:0007985 | platelet crit |
| EFO:0007997 | granulocyte percentage of myeloid white cells |
| EFO:0004509 | hemoglobin measurement |
| EFO:0005763 | pulse pressure measurement |
| EFO:0007006 | depressive symptom measurement |
| EFO:0009262 | nicotine dependence symptom count |
| EFO:0009592 | social interaction measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0009595 | guilt measurement |
| EFO:0009588 | feeling “fed-up” measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0007660 | neuroticism measurement |
| EFO:0004541 | HbA1c measurement |
| EFO:0004344 | birth weight |
| EFO:0006335 | systolic blood pressure |
| EFO:0008336 | disease progression measurement |
| EFO:0007828 | daytime rest measurement |
| EFO:0004980 | appendicular lean mass |
| EFO:0004527 | mean corpuscular hemoglobin |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0007789 | BMI-adjusted waist circumference |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
51 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, increases methylation | 9 |
| Benzo(a)pyrene | affects methylation, decreases expression | 3 |
| bisphenol A | decreases methylation, affects cotreatment, increases expression | 2 |
| sodium arsenite | decreases expression | 2 |
| Estradiol | affects cotreatment, increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| trichostatin A | increases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| perfluorooctanoic acid | increases expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| ICG 001 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| bisphenol S | decreases methylation | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Vehicle Emissions | decreases methylation | 1 |
| Cisplatin | affects cotreatment, 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): conotruncal heart malformations