Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
26249
Gene name Gene Name - the full gene name approved by the HGNC.
Kelch like family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLHL3
Synonyms (NCBI Gene) Gene synonyms aliases
PHA2D
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q31.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene is ubiquitously expressed and encodes a full-length protein which has an N-terminal BTB domain followed by a BACK domain and six kelch-like repeats in the C-terminus. These kelch-like repeats promote substrate ubiquitination of bound proteins vi
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs199469623 G>A,T Pathogenic Genic upstream transcript variant, missense variant, coding sequence variant
rs199469624 T>A,C Pathogenic Genic upstream transcript variant, missense variant, coding sequence variant
rs199469625 T>G Pathogenic Missense variant, coding sequence variant
rs199469626 C>A Pathogenic Missense variant, coding sequence variant
rs199469627 T>C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT023657 hsa-miR-1-3p Microarray 18668037
MIRT049738 hsa-miR-92a-3p CLASH 23622248
MIRT612828 hsa-miR-8485 HITS-CLIP 23824327
MIRT612827 hsa-miR-329-3p HITS-CLIP 23824327
MIRT612826 hsa-miR-362-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IEA
GO:0003779 Function Actin binding IEA
GO:0005198 Function Structural molecule activity TAS 10843806
GO:0005515 Function Protein binding IPI 22406640, 23453970, 23576762, 23665031, 25502805, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
605775 6354 ENSG00000146021
Protein
UniProt ID Q9UH77
Protein name Kelch-like protein 3
Protein function Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin ligase complex that acts as a regulator of ion transport in the distal nephron (PubMed:14528312, PubMed:22406640, PubMed:23387299, PubMed:23453970, PubMed:23576762, PubMed:23665031
PDB 4CH9 , 4HXI , 5NKP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00651 BTB 40 147 BTB/POZ domain Domain
PF07707 BACK 152 254 BTB And C-terminal Kelch Domain
PF01344 Kelch_1 290 334 Kelch motif Repeat
PF01344 Kelch_1 336 381 Kelch motif Repeat
PF01344 Kelch_1 383 428 Kelch motif Repeat
PF01344 Kelch_1 430 477 Kelch motif Repeat
PF01344 Kelch_1 479 524 Kelch motif Repeat
PF01344 Kelch_1 526 571 Kelch motif Repeat
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:22406640}.
Sequence
Sequence length 587
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Antigen processing: Ubiquitination & Proteasome degradation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Pseudohypoaldosteronism pseudohypoaldosteronism type 2d, Pseudohypoaldosteronism type 2A rs199469644, rs199469637, rs199469640, rs199469647, rs199469627, rs199469648, rs199469629, rs199469635, rs199469633, rs199469631, rs199469639, rs199469623, rs199469632, rs199469626, rs199469641
View all (9 more)
N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Heart Failure Heart failure N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31171715
Essential Hypertension Associate 31096542
Genetic Diseases Inborn Associate 24641320
Gordon syndrome Associate 23387299
Hypertension Associate 23387299, 23573258, 24266877, 30931564, 31096542, 35179207
Hyperthyroidism Associate 34022862
Intracranial Aneurysm Associate 32084215
Myalgia Associate 35093948
Pseudohypoaldosteronism Associate 23902721, 30931564, 34022862, 35093948, 35179207
Rupture Associate 32084215