KLHL5
gene geneOn this page
Summary
KLHL5 (kelch like family member 5, HGNC:6356) is a protein-coding gene on chromosome 4p14, encoding Kelch-like protein 5 (Q96PQ7).
Predicted to enable ubiquitin-like ligase-substrate adaptor activity. Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Located in microtubule cytoskeleton and plasma membrane. Implicated in cocaine dependence.
Source: NCBI Gene 51088 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 112 total
- MANE Select transcript:
NM_015990
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6356 |
| Approved symbol | KLHL5 |
| Name | kelch like family member 5 |
| Location | 4p14 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000109790 |
| Ensembl biotype | protein_coding |
| OMIM | 608064 |
| Entrez | 51088 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 12 protein_coding, 1 nonsense_mediated_decay
ENST00000261425, ENST00000261426, ENST00000381930, ENST00000504108, ENST00000508137, ENST00000514399, ENST00000515612, ENST00000891918, ENST00000891919, ENST00000891920, ENST00000891921, ENST00000919279, ENST00000962795
RefSeq mRNA: 4 — MANE Select: NM_015990
NM_001007075, NM_001171654, NM_015990, NM_199039
CCDS: CCDS33975, CCDS3449, CCDS54756
Canonical transcript exons
ENST00000504108 — 11 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000710663 | 39113020 | 39113232 |
| ENSE00000826443 | 39107569 | 39107731 |
| ENSE00001077191 | 39115159 | 39115330 |
| ENSE00001171492 | 39081103 | 39081239 |
| ENSE00001301206 | 39096692 | 39096878 |
| ENSE00001304952 | 39081963 | 39082159 |
| ENSE00001305394 | 39103287 | 39103511 |
| ENSE00001326701 | 39086515 | 39086727 |
| ENSE00002049201 | 39062232 | 39063035 |
| ENSE00002071317 | 39121010 | 39126233 |
| ENSE00003477265 | 39075965 | 39076147 |
Expression profiles
Bgee: expression breadth ubiquitous, 256 present calls, max score 96.52.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 37.2748 / max 426.3441, expressed in 1803 samples.
FANTOM5 promoters (8 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47357 | 16.6540 | 1772 |
| 47358 | 14.6234 | 1754 |
| 47356 | 5.1483 | 1610 |
| 47359 | 0.2644 | 116 |
| 47360 | 0.2176 | 81 |
| 203142 | 0.1342 | 52 |
| 47361 | 0.1306 | 51 |
| 47362 | 0.1023 | 52 |
Top tissues by expression
258 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| stromal cell of endometrium | CL:0002255 | 96.52 | gold quality |
| seminal vesicle | UBERON:0000998 | 96.32 | gold quality |
| corpus callosum | UBERON:0002336 | 95.11 | gold quality |
| cauda epididymis | UBERON:0004360 | 94.84 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.81 | gold quality |
| spinal cord | UBERON:0002240 | 94.78 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 94.57 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 94.20 | gold quality |
| substantia nigra | UBERON:0002038 | 93.85 | gold quality |
| amygdala | UBERON:0001876 | 93.76 | gold quality |
| Ammon’s horn | UBERON:0001954 | 93.67 | gold quality |
| placenta | UBERON:0001987 | 93.65 | gold quality |
| colonic epithelium | UBERON:0000397 | 93.49 | gold quality |
| midbrain | UBERON:0001891 | 93.43 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 93.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 93.26 | gold quality |
| postcentral gyrus | UBERON:0002581 | 93.17 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 92.84 | gold quality |
| hypothalamus | UBERON:0001898 | 92.82 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.78 | gold quality |
| medulla oblongata | UBERON:0001896 | 92.76 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 92.70 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 92.45 | gold quality |
| lower esophagus | UBERON:0013473 | 92.43 | gold quality |
| cortical plate | UBERON:0005343 | 92.36 | gold quality |
| vermiform appendix | UBERON:0001154 | 92.30 | gold quality |
| monocyte | CL:0000576 | 92.24 | gold quality |
| superficial temporal artery | UBERON:0001614 | 92.21 | gold quality |
| parietal lobe | UBERON:0001872 | 92.13 | gold quality |
| temporal lobe | UBERON:0001871 | 92.05 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-137537 | yes | 7.58 |
| E-ANND-3 | yes | 5.57 |
| E-GEOD-99795 | no | 76.04 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
203 targeting KLHL5, 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-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| 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 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-5696 | 99.98 | 72.36 | 4487 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-6793-5P | 99.97 | 65.95 | 758 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
Literature-anchored findings (GeneRIF, showing 2)
- Data report a novel splicing variant of KLHL5, named KLHL5b, and describe its expression pattern in many tissues. (PMID:14672410)
- KLHL5/Cul3-based E3 ubiquitin ligase complex is important for regulation of SK1 protein stability via Lys183 ubiquitination. (PMID:31652307)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | klhl5 | ENSDARG00000062122 |
| mus_musculus | Klhl5 | ENSMUSG00000054920 |
| rattus_norvegicus | Klhl5 | ENSRNOG00000008421 |
| drosophila_melanogaster | CG17754 | FBGN0030114 |
Paralogs (54): KLHL13 (ENSG00000003096), KLHL20 (ENSG00000076321), KEAP1 (ENSG00000079999), KLHL42 (ENSG00000087448), KLHL22 (ENSG00000099910), KLHL4 (ENSG00000102271), KLHL2 (ENSG00000109466), 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), 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 5 — Q96PQ7 (reviewed: Q96PQ7)
All UniProt accessions (5): Q96PQ7, A0A804C9D6, A0A804CHP1, H0Y9Y5, H0YAF6
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Expressed in adrenal gland, ovary and thyroid gland and less abundantly in lymph node, prostate, spinal cord, testis and trachea.
Miscellaneous. May be due to intron retention. Ubiquitous expression, differentially expressed in kidney and pancreas relatively to isoform 1.
Isoforms (6)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96PQ7-1 | 1, KLHL5a | yes |
| Q96PQ7-2 | 2 | |
| Q96PQ7-3 | 3 | |
| Q96PQ7-4 | 4, KLHL5b | |
| Q96PQ7-5 | 5 | |
| Q96PQ7-6 | 6 |
RefSeq proteins (4): NP_001007076, NP_001165125, NP_057074, NP_950240 (=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 |
| IPR030606 | KLHL5_BTB/POZ | Domain |
| IPR056737 | Beta-prop_ATRN-MKLN-like | Domain |
Pfam: PF00651, PF07707, PF24981
UniProt features (26 total): sequence conflict 8, repeat 6, splice variant 5, compositionally biased region 2, sequence variant 2, chain 1, domain 1, region of interest 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96PQ7-F1 | 77.74 | 0.66 |
Function
Pathways and Gene Ontology
Reactome pathways
7 pathways
| ID | Pathway |
|---|---|
| R-HSA-8951664 | Neddylation |
| R-HSA-983168 | Antigen processing: Ubiquitination & Proteasome degradation |
| R-HSA-1280218 | Adaptive Immune System |
| R-HSA-168256 | Immune System |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
| R-HSA-983169 | Class I MHC mediated antigen processing & presentation |
MSigDB gene sets: 162 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_UP, RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, REACTOME_ADAPTIVE_IMMUNE_SYSTEM, REACTOME_CLASS_I_MHC_MEDIATED_ANTIGEN_PROCESSING_PRESENTATION, REACTOME_ANTIGEN_PROCESSING_UBIQUITINATION_PROTEASOME_DEGRADATION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, LHX3_01, NKX61_01, WTGAAAT_UNKNOWN, DODD_NASOPHARYNGEAL_CARCINOMA_UP, GATA2_01, BENPORATH_NOS_TARGETS, GOMF_ACTIN_BINDING
GO Biological Process (1): proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)
GO Molecular Function (3): actin binding (GO:0003779), ubiquitin-like ligase-substrate adaptor activity (GO:1990756), protein binding (GO:0005515)
GO Cellular Component (6): cytoplasm (GO:0005737), cytosol (GO:0005829), plasma membrane (GO:0005886), microtubule cytoskeleton (GO:0015630), Cul3-RING ubiquitin ligase complex (GO:0031463), cytoskeleton (GO:0005856)
Reactome top-level categories
Rollup of top-5 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Class I MHC mediated antigen processing & presentation | 1 |
| Immune System | 1 |
| Metabolism of proteins | 1 |
| Adaptive Immune System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| ubiquitin-dependent protein catabolic process | 1 |
| proteasomal protein catabolic process | 1 |
| cytoskeletal protein binding | 1 |
| enzyme-substrate adaptor activity | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoskeleton | 1 |
| cullin-RING ubiquitin ligase complex | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
764 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| KLHL5 | TMEM156 | Q8N614 | 636 |
| KLHL5 | PRKAR2B | P31323 | 571 |
| KLHL5 | ANAPC7 | Q9UJX3 | 539 |
| KLHL5 | N4BP2 | Q86UW6 | 489 |
| KLHL5 | WDR19 | Q8NEZ3 | 489 |
| KLHL5 | NEDD4L | Q96PU5 | 481 |
| KLHL5 | LIAS | O43766 | 476 |
| KLHL5 | SIAH2 | O43255 | 467 |
| KLHL5 | RFC1 | P35251 | 449 |
| KLHL5 | ZNF684 | Q5T5D7 | 442 |
| KLHL5 | FBXO48 | Q5FWF7 | 439 |
| KLHL5 | OR8B4 | Q96RC9 | 429 |
| KLHL5 | SOCS3 | O14543 | 424 |
| KLHL5 | OR5AP2 | Q8NGF4 | 417 |
| KLHL5 | RPL9 | P32969 | 414 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CUL3 | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.800 |
| KLHL5 | CUL3 | psi-mi:“MI:0914”(association) | 0.800 |
| TRIM2 | TRIM3 | psi-mi:“MI:0914”(association) | 0.770 |
| KLHL1 | CUL3 | psi-mi:“MI:0914”(association) | 0.560 |
| CUL3 | RHOBTB1 | psi-mi:“MI:0914”(association) | 0.530 |
| CUL3 | ZSWIM8 | psi-mi:“MI:0914”(association) | 0.530 |
| SKA2 | VSIG8 | psi-mi:“MI:0914”(association) | 0.530 |
| SPHK1 | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.480 |
| GABARAPL2 | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| KLHL5 | MAP1LC3B | psi-mi:“MI:0915”(physical association) | 0.370 |
| SMN1 | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TK1 | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| CUL3 | PXDNL | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL4 | CUL1 | psi-mi:“MI:0914”(association) | 0.350 |
| SKA2 | CORO1A | psi-mi:“MI:0914”(association) | 0.350 |
| KLHL1 | SNX2 | psi-mi:“MI:0914”(association) | 0.350 |
| CAMK2D | PPM1D | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.000 |
| KLHL5 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| KLHL5 | psi-mi:“MI:0915”(physical association) | 0.000 | |
| KLHL5 | hscC | psi-mi:“MI:0915”(physical association) | 0.000 |
| fliH | KLHL5 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (28): KLHL5 (Affinity Capture-MS), KLHL5 (Two-hybrid), SPHK1 (Affinity Capture-Western), CUL3 (Affinity Capture-Western), KLHL5 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL5 (Affinity Capture-MS), KLHL5 (Reconstituted Complex), KLHL5 (Affinity Capture-MS), KLHL5 (Negative Genetic), KLHL5 (Negative Genetic), KLHL5 (Affinity Capture-MS), CUL3 (Affinity Capture-Western)
ESM2 similar proteins: A4FUN7, A5D9H7, A5PKA5, A5WWB0, A6H8I0, A6NNY8, C0HB46, D0RB01, F1M625, O75317, O89050, P0C8Z3, P50876, P50904, P62068, P62069, Q09LZ8, Q3TIX9, Q3UHD6, Q52KZ6, Q53GS9, Q5DU02, Q5F415, Q5F450, Q5IFJ9, Q5IS37, Q5IS82, Q5M981, Q5R4Q7, Q5R573, Q5R761, Q5RB35, Q5RBQ4, Q5RDP3, Q5VU57, Q60969, Q6DCJ1, Q6GNI6, Q8CEG8, Q8K4V4
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 23 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 |
|---|---|---|---|
| proteasome-mediated ubiquitin-dependent protein catabolic process | 7 | 18.3× | 1e-05 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
112 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 91 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1961 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:39045094:GCG:G | donor_gain | 1.0000 |
| 4:39045095:CGGTA:C | donor_loss | 1.0000 |
| 4:39045097:G:GG | donor_gain | 1.0000 |
| 4:39045097:GT:G | donor_loss | 1.0000 |
| 4:39045098:T:G | donor_loss | 1.0000 |
| 4:39075959:TTTCA:T | acceptor_loss | 1.0000 |
| 4:39075961:TCAG:T | acceptor_loss | 1.0000 |
| 4:39075962:CA:C | acceptor_loss | 1.0000 |
| 4:39081099:ACAG:A | acceptor_loss | 1.0000 |
| 4:39081100:CA:C | acceptor_loss | 1.0000 |
| 4:39081101:A:AC | acceptor_loss | 1.0000 |
| 4:39081101:A:AG | acceptor_gain | 1.0000 |
| 4:39081101:AGATT:A | acceptor_gain | 1.0000 |
| 4:39081102:G:GG | acceptor_gain | 1.0000 |
| 4:39081102:G:GT | acceptor_loss | 1.0000 |
| 4:39081102:GATTG:G | acceptor_gain | 1.0000 |
| 4:39081236:ACAG:A | donor_loss | 1.0000 |
| 4:39081238:AG:A | donor_loss | 1.0000 |
| 4:39081239:GGTAA:G | donor_loss | 1.0000 |
| 4:39081241:T:G | donor_loss | 1.0000 |
| 4:39081961:A:G | acceptor_gain | 1.0000 |
| 4:39086674:A:T | donor_gain | 1.0000 |
| 4:39086677:GATC:G | donor_gain | 1.0000 |
| 4:39086680:C:CG | donor_gain | 1.0000 |
| 4:39086680:C:G | donor_gain | 1.0000 |
| 4:39086684:G:GG | donor_gain | 1.0000 |
| 4:39088169:T:TG | donor_gain | 1.0000 |
| 4:39096690:A:AG | acceptor_gain | 1.0000 |
| 4:39096691:G:GG | acceptor_gain | 1.0000 |
| 4:39096826:G:GT | donor_gain | 1.0000 |
AlphaMissense
4959 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:39076104:G:C | D221H | 1.000 |
| 4:39076105:A:C | D221A | 1.000 |
| 4:39076105:A:G | D221G | 1.000 |
| 4:39076105:A:T | D221V | 1.000 |
| 4:39076114:T:C | L224S | 1.000 |
| 4:39076141:C:A | A233D | 1.000 |
| 4:39076143:C:G | H234D | 1.000 |
| 4:39076144:A:G | H234R | 1.000 |
| 4:39076147:G:C | R235T | 1.000 |
| 4:39081103:A:C | R235S | 1.000 |
| 4:39081103:A:T | R235S | 1.000 |
| 4:39081105:T:G | L236W | 1.000 |
| 4:39081108:T:A | V237E | 1.000 |
| 4:39081111:T:A | L238H | 1.000 |
| 4:39081111:T:C | L238P | 1.000 |
| 4:39081111:T:G | L238R | 1.000 |
| 4:39081128:T:C | Y244H | 1.000 |
| 4:39081131:T:C | F245L | 1.000 |
| 4:39081132:T:C | F245S | 1.000 |
| 4:39081133:T:A | F245L | 1.000 |
| 4:39081133:T:G | F245L | 1.000 |
| 4:39081141:T:C | M248T | 1.000 |
| 4:39081142:G:A | M248I | 1.000 |
| 4:39081142:G:C | M248I | 1.000 |
| 4:39081142:G:T | M248I | 1.000 |
| 4:39081143:T:A | F249I | 1.000 |
| 4:39081143:T:C | F249L | 1.000 |
| 4:39081143:T:G | F249V | 1.000 |
| 4:39081144:T:C | F249S | 1.000 |
| 4:39081144:T:G | F249C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000033272 (4:39127487 G>A), RS1000048856 (4:39052640 C>G), RS1000066156 (4:39130532 T>G), RS1000112032 (4:39079851 G>C), RS1000124415 (4:39072991 T>A), RS1000160367 (4:39130828 G>A), RS1000225942 (4:39113588 A>G), RS1000226967 (4:39094342 G>T), RS1000233297 (4:39065575 A>G), RS1000234354 (4:39073277 A>G), RS10002441 (4:39096149 T>C), RS1000251037 (4:39073272 T>A,C), RS1000320211 (4:39137038 A>G), RS1000336059 (4:39058371 A>G), RS1000339285 (4:39115526 A>G,T)
Disease associations
OMIM: gene MIM:608064 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002088_4 | Asthma (childhood onset) | 3.000000e-07 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, increases expression | 5 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Cisplatin | affects expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| Cyclosporine | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| mercuric bromide | affects cotreatment, decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| entinostat | increases expression | 1 |
| K 7174 | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | decreases expression, increases expression, affects cotreatment | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| MT19c compound | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Troglitazone | increases expression | 1 |
| Vorinostat | increases expression | 1 |
| Leflunomide | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 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.