KLHL18
geneOn this page
Also known as KIAA0795FLJ13703
Summary
KLHL18 (kelch like family member 18, HGNC:29120) is a protein-coding gene on chromosome 3p21.31, encoding Kelch-like protein 18 (O94889). Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis.
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Involved in positive regulation of mitotic cell cycle phase transition and protein ubiquitination. Predicted to be part of Cul3-RING ubiquitin ligase complex. Predicted to be active in cytoplasm.
Source: NCBI Gene 23276 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 81 total
- MANE Select transcript:
NM_025010
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29120 |
| Approved symbol | KLHL18 |
| Name | kelch like family member 18 |
| Location | 3p21.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA0795, FLJ13703 |
| Ensembl gene | ENSG00000114648 |
| Ensembl biotype | protein_coding |
| OMIM | 619926 |
| Entrez | 23276 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron, 1 protein_coding_CDS_not_defined
ENST00000232766, ENST00000433449, ENST00000437353, ENST00000442272, ENST00000461084, ENST00000483201, ENST00000964342
RefSeq mRNA: 1 — MANE Select: NM_025010
NM_025010
CCDS: CCDS33749
Canonical transcript exons
ENST00000232766 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001172794 | 47343555 | 47346816 |
| ENSE00003466550 | 47334683 | 47334819 |
| ENSE00003521418 | 47342719 | 47342830 |
| ENSE00003539496 | 47333157 | 47333317 |
| ENSE00003574919 | 47336535 | 47336757 |
| ENSE00003599751 | 47319653 | 47319783 |
| ENSE00003615776 | 47329951 | 47330149 |
| ENSE00003668761 | 47322568 | 47322708 |
| ENSE00003676095 | 47340572 | 47340676 |
| ENSE00003850843 | 47282944 | 47283094 |
Expression profiles
Bgee: expression breadth ubiquitous, 240 present calls, max score 94.46.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.6025 / max 267.7466, expressed in 1792 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 36536 | 5.3045 | 1742 |
| 36534 | 2.0173 | 1095 |
| 36535 | 1.2807 | 746 |
Top tissues by expression
279 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 94.46 | gold quality |
| apex of heart | UBERON:0002098 | 94.13 | gold quality |
| gastrocnemius | UBERON:0001388 | 94.10 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 93.79 | gold quality |
| muscle of leg | UBERON:0001383 | 93.37 | gold quality |
| monocyte | CL:0000576 | 92.80 | gold quality |
| mononuclear cell | CL:0000842 | 92.57 | gold quality |
| leukocyte | CL:0000738 | 91.90 | gold quality |
| oocyte | CL:0000023 | 91.72 | gold quality |
| heart left ventricle | UBERON:0002084 | 90.74 | gold quality |
| cardiac ventricle | UBERON:0002082 | 90.08 | gold quality |
| right atrium auricular region | UBERON:0006631 | 89.46 | gold quality |
| skeletal muscle organ | UBERON:0014892 | 87.31 | gold quality |
| muscle organ | UBERON:0001630 | 87.29 | gold quality |
| heart | UBERON:0000948 | 87.12 | gold quality |
| cardiac atrium | UBERON:0002081 | 86.55 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 86.29 | gold quality |
| skin of leg | UBERON:0001511 | 85.98 | gold quality |
| skin of abdomen | UBERON:0001416 | 85.32 | gold quality |
| cortical plate | UBERON:0005343 | 84.78 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 84.62 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 84.50 | gold quality |
| granulocyte | CL:0000094 | 84.30 | gold quality |
| zone of skin | UBERON:0000014 | 84.18 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.16 | gold quality |
| left adrenal gland | UBERON:0001234 | 84.02 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 83.93 | silver quality |
| left adrenal gland cortex | UBERON:0035825 | 83.88 | gold quality |
| esophagus mucosa | UBERON:0002469 | 83.68 | gold quality |
| right adrenal gland | UBERON:0001233 | 83.31 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.89 |
| E-MTAB-7249 | no | 54.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
167 targeting KLHL18, 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-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-5193 | 100.00 | 67.26 | 1744 |
| HSA-MIR-4713-3P | 100.00 | 65.92 | 505 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| 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-4673 | 100.00 | 66.64 | 1490 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-7152-3P | 99.97 | 67.47 | 849 |
| HSA-MIR-302E | 99.96 | 70.74 | 2669 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-1297 | 99.91 | 73.41 | 3162 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-498-3P | 99.91 | 71.27 | 1114 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klhl18 | ENSDARG00000004306 |
| mus_musculus | Klhl18 | ENSMUSG00000054792 |
| rattus_norvegicus | Klhl18 | ENSRNOG00000020880 |
| drosophila_melanogaster | KLHL18 | FBGN0037978 |
| caenorhabditis_elegans | WBGENE00002185 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), KLHL5 (ENSG00000109790), BACH2 (ENSG00000112182), KLHL24 (ENSG00000114796), IVNS1ABP (ENSG00000116679), KLHL12 (ENSG00000117153), KLHL29 (ENSG00000119771), 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 18 — O94889 (reviewed: O94889)
All UniProt accessions (4): C9J4G4, O94889, F8WCL4, F8WF78
UniProt curated annotations — full annotation on UniProt →
Function. Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL18) E3 ubiquitin ligase complex mediates the ubiquitination of AURKA leading to its activation at the centrosome which is required for initiating mitotic entry. Regulates light-and dark-dependent alpha-transducin localization changes in rod photoreceptors through UNC119 ubiquitination and degradation. Preferentially ubiquitinates the unphosphorylated form of UNC119 over the phosphorylated form. In the presence of UNC119, under dark-adapted conditions alpha-transducin mislocalizes from the outer segment to the inner part of rod photoreceptors which leads to decreased photoreceptor damage caused by light.
Subunit / interactions. Interacts with AURKA. Interacts (via BTB domain) with CUL3. Interacts (via kelch repeats) with UNC119.
Pathway. Protein modification; protein ubiquitination.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| O94889-1 | 1 | yes |
| O94889-2 | 2 |
RefSeq proteins (1): NP_079286* (*=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 |
| IPR017096 | BTB-kelch_protein | Family |
| IPR030603 | KLHL18_BTB/POZ | Domain |
Pfam: PF00651, PF01344, PF07707, PF24681
UniProt features (10 total): repeat 6, domain 2, chain 1, splice variant 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-O94889-F1 | 93.41 | 0.85 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 225 (showing top):
MORF_RAGE, MORF_FLT1, TGCGCANK_UNKNOWN, MORF_MSH3, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, SP3_Q3, MORF_BRCA1, MORF_ATRX, GOBP_CELL_CYCLE_PHASE_TRANSITION, GOBP_POSITIVE_REGULATION_OF_MITOTIC_CELL_CYCLE, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, TAL1ALPHAE47_01, MORF_ESR1, MODULE_16, CCATCCA_MIR432
GO Biological Process (4): protein ubiquitination (GO:0016567), proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161), cell division (GO:0051301), positive regulation of mitotic cell cycle phase transition (GO:1901992)
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 |
|---|---|
| protein modification by small protein conjugation | 1 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cellular process | 1 |
| mitotic cell cycle phase transition | 1 |
| positive regulation of mitotic cell cycle | 1 |
| positive regulation of cell cycle phase transition | 1 |
| regulation of mitotic cell cycle phase transition | 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
932 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHL18 | KIF9 | Q9HAQ2 | 582 |
| KLHL18 | TBRG4 | Q969Z0 | 557 |
| KLHL18 | KCTD2 | Q14681 | 532 |
| KLHL18 | ESPNL | Q6ZVH7 | 531 |
| KLHL18 | CCDC12 | Q8WUD4 | 513 |
| KLHL18 | BTBD7 | Q9P203 | 493 |
| KLHL18 | CUL3 | Q13618 | 491 |
| KLHL18 | UBAP2L | Q14157 | 489 |
| KLHL18 | DHRS7B | Q6IAN0 | 474 |
| KLHL18 | SLC25A21 | Q9BQT8 | 473 |
| KLHL18 | EXTL3 | O43909 | 462 |
| KLHL18 | ADRA2C | P18825 | 456 |
| KLHL18 | DAB2IP | Q5VWQ8 | 438 |
| KLHL18 | DEPDC4 | Q8N2C3 | 438 |
| KLHL18 | TRAM2 | Q15035 | 435 |
IntAct
51 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| COPS6 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.730 |
| EEF1G | KLHL18 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KLHL18 | PRKN | psi-mi:“MI:0915”(physical association) | 0.560 |
| EIF4EBP3 | EIF4E2 | psi-mi:“MI:0914”(association) | 0.550 |
| COPS5 | KLHL18 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| UBE2M | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| GPS1 | PXDNL | psi-mi:“MI:0914”(association) | 0.530 |
| COPS6 | KLHL18 | psi-mi:“MI:0914”(association) | 0.530 |
| CFH | KLHL18 | psi-mi:“MI:0915”(physical association) | 0.400 |
| KLHL18 | CFTR | psi-mi:“MI:0915”(physical association) | 0.370 |
| CFTR | KLHL18 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLHL18 | EEF1G | psi-mi:“MI:0915”(physical association) | 0.370 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| DCUN1D1 | RGSL1 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS5 | FBLL1 | psi-mi:“MI:0914”(association) | 0.350 |
| COPS6 | DDX3X | psi-mi:“MI:0914”(association) | 0.350 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (76): KLHL18 (Two-hybrid), KLHL18 (Affinity Capture-MS), KLHL18 (Affinity Capture-MS), KLHL18 (Affinity Capture-MS), SUGT1 (Affinity Capture-MS), NUDCD3 (Affinity Capture-MS), KLHL18 (Two-hybrid), KLHL18 (Affinity Capture-MS), CUL3 (Affinity Capture-Western), KLHL18 (Affinity Capture-Western), KLHL18 (Affinity Capture-Western), AURKA (Affinity Capture-Western), AURKA (Reconstituted Complex), AURKA (Biochemical Activity), RBX1 (Affinity Capture-Western)
ESM2 similar proteins: A0A2R8Q1W5, A6QQY2, B0WWP2, B3NDN0, B4HIK1, B4L0G9, B4LIG6, B4PD06, D3Z8N4, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, O94889, P28575, P57790, P59280, Q08DK3, Q14145, Q16RL8, Q2T9Z7, Q53G59, Q5R774, Q5R7B8, Q5U374, Q5ZKD9, Q5ZLD3, Q684M4, Q6DFF6, Q6JEL2, Q6JEL3, Q6NRH0, Q6TDP3, Q6TDP4, Q6ZPT1, Q7QGL0, Q80TF4, Q8BZM0, Q8K430
Diamond homologs: A0A2R8Q1W5, A9JRD8, B0WWP2, B3DIV9, B3M9V8, B3NDN0, B4GRJ2, B4HIK1, B4J045, B4L0G9, B4LIG6, B4MXW3, B4PD06, B4QLQ2, D3Z8N4, D3ZUU2, E0CZ16, E1B932, E7F6F9, E9Q4F2, F1LZ52, F1LZF0, F1MBP6, G3X9X1, O15062, O93567, O94889, O95198, P28575, P57790, Q04652, Q08DK3, Q13105, Q14145, Q16RL8, Q1ECZ2, Q2M0J9, Q2TBA0, Q3SWU4, Q3ZB90
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| KLHL18 | “up-regulates activity” | AURKA | binding |
| KLHL18 | “up-regulates activity” | “Cullin 3-RBX1-Skp1” | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 46 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 |
|---|---|---|---|
| DNA Damage Recognition in GG-NER | 6 | 53.5× | 6e-08 |
| Formation of TC-NER Pre-Incision Complex | 6 | 39.6× | 3e-07 |
| Cargo recognition for clathrin-mediated endocytosis | 6 | 19.6× | 1e-05 |
| Neddylation | 12 | 17.8× | 1e-10 |
| Antigen processing: Ubiquitination & Proteasome degradation | 6 | 7.0× | 4e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| regulation of protein neddylation | 7 | 159.8× | 2e-12 |
| protein neddylation | 9 | 154.1× | 6e-16 |
| ubiquitin-dependent protein catabolic process | 5 | 9.1× | 1e-02 |
| protein ubiquitination | 7 | 7.1× | 4e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
81 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 71 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1890 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:47283092:AAGGT:A | donor_loss | 1.0000 |
| 3:47283094:GGTA:G | donor_loss | 1.0000 |
| 3:47283096:T:A | donor_loss | 1.0000 |
| 3:47319772:A:T | donor_gain | 1.0000 |
| 3:47319779:CCAAG:C | donor_loss | 1.0000 |
| 3:47319780:CAAGG:C | donor_loss | 1.0000 |
| 3:47319781:AAGGT:A | donor_loss | 1.0000 |
| 3:47319782:AGGTA:A | donor_loss | 1.0000 |
| 3:47319783:GGT:G | donor_loss | 1.0000 |
| 3:47319784:GTACT:G | donor_loss | 1.0000 |
| 3:47319785:T:A | donor_loss | 1.0000 |
| 3:47322565:TA:T | acceptor_loss | 1.0000 |
| 3:47322566:A:AG | acceptor_gain | 1.0000 |
| 3:47322566:AGT:A | acceptor_gain | 1.0000 |
| 3:47322567:G:GC | acceptor_gain | 1.0000 |
| 3:47322567:GT:G | acceptor_gain | 1.0000 |
| 3:47322567:GTG:G | acceptor_gain | 1.0000 |
| 3:47322567:GTGC:G | acceptor_gain | 1.0000 |
| 3:47322567:GTGCC:G | acceptor_gain | 1.0000 |
| 3:47322704:GAACG:G | donor_gain | 1.0000 |
| 3:47322708:GGT:G | donor_loss | 1.0000 |
| 3:47322709:G:GG | donor_gain | 1.0000 |
| 3:47322710:T:A | donor_loss | 1.0000 |
| 3:47329942:A:AG | acceptor_gain | 1.0000 |
| 3:47329942:AT:A | acceptor_gain | 1.0000 |
| 3:47329943:T:G | acceptor_gain | 1.0000 |
| 3:47329943:T:TA | acceptor_gain | 1.0000 |
| 3:47329947:A:AG | acceptor_gain | 1.0000 |
| 3:47329947:AAAG:A | acceptor_gain | 1.0000 |
| 3:47329948:A:G | acceptor_gain | 1.0000 |
AlphaMissense
3782 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:47283090:T:A | L42H | 1.000 |
| 3:47283090:T:C | L42P | 1.000 |
| 3:47319675:C:A | A51D | 1.000 |
| 3:47319681:G:C | R53P | 1.000 |
| 3:47319687:T:A | V55D | 1.000 |
| 3:47319690:T:C | L56S | 1.000 |
| 3:47319723:T:C | F67S | 1.000 |
| 3:47322688:C:G | C127W | 1.000 |
| 3:47336661:G:A | G342E | 1.000 |
| 3:47336723:T:A | W363R | 1.000 |
| 3:47336723:T:C | W363R | 1.000 |
| 3:47336755:A:C | R373S | 1.000 |
| 3:47336755:A:T | R373S | 1.000 |
| 3:47340616:G:A | G389E | 1.000 |
| 3:47342720:T:A | W410R | 1.000 |
| 3:47342720:T:C | W410R | 1.000 |
| 3:47342750:C:A | R420S | 1.000 |
| 3:47283060:G:C | R32P | 0.999 |
| 3:47283063:G:C | R33P | 0.999 |
| 3:47283075:T:C | L37P | 0.999 |
| 3:47283080:G:C | D39H | 0.999 |
| 3:47283081:A:T | D39V | 0.999 |
| 3:47283084:T:A | V40E | 0.999 |
| 3:47319677:C:G | H52D | 0.999 |
| 3:47319678:A:G | H52R | 0.999 |
| 3:47319679:C:A | H52Q | 0.999 |
| 3:47319679:C:G | H52Q | 0.999 |
| 3:47319692:G:C | A57P | 0.999 |
| 3:47319693:C:A | A57E | 0.999 |
| 3:47319695:G:C | A58P | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000007578 (3:47314755 CT>C), RS1000049746 (3:47316889 G>T), RS1000058195 (3:47321346 G>T), RS1000063514 (3:47308671 G>A), RS1000241339 (3:47322727 C>A,T), RS1000254724 (3:47335625 A>G), RS1000287465 (3:47308883 A>G), RS1000363506 (3:47328713 G>T), RS1000423124 (3:47296118 G>C), RS1000521840 (3:47320878 A>G), RS1000522206 (3:47337561 C>T), RS1000585521 (3:47335916 G>A,T), RS1000650394 (3:47344706 C>T), RS1000684943 (3:47290104 C>T), RS1000703647 (3:47297906 G>A)
Disease associations
OMIM: gene MIM:619926 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004691_3 | Huntington’s disease progression | 2.000000e-06 |
| GCST010002_422 | Refractive error | 4.000000e-14 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008336 | disease progression measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
36 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | increases methylation, decreases expression, affects cotreatment | 2 |
| sodium arsenite | affects expression, affects cotreatment, increases abundance, increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Estradiol | affects expression, increases expression | 2 |
| Valproic Acid | increases expression, affects expression | 2 |
| aristolochic acid I | increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| manganese chloride | affects cotreatment, increases abundance, increases expression | 1 |
| potassium chromate(VI) | affects cotreatment, increases expression | 1 |
| cupric oxide | increases expression | 1 |
| epigallocatechin gallate | affects cotreatment, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| cylindrospermopsin | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| belinostat | increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| PCI 5002 | affects cotreatment, increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Arsenic | affects cotreatment, increases abundance, increases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Folic Acid | decreases expression | 1 |
| Indomethacin | affects cotreatment, decreases expression | 1 |
| Manganese | increases abundance, increases expression, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Zinc | affects cotreatment, increases 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): Huntington disease