Gene Gene information from NCBI Gene database.
Entrez ID 26249
Gene name Kelch like family member 3
Gene symbol KLHL3
Synonyms (NCBI Gene)
PHA2D
Chromosome 5
Chromosome location 5q31.2
Summary 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.
32
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.
749
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
42
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605775 6354 ENSG00000146021
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
22
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cerebral palsy Likely pathogenic rs2149876234 RCV001796572
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pseudohypoaldosteronism type 2A Pathogenic; Likely pathogenic rs199469644, rs199469647, rs199469648, rs199469633, rs199469623, rs199469626, rs199469625, rs199469642, rs199469624, rs199469634, rs199469637, rs199469627, rs199469629, rs199469631, rs199469639
View all (6 more)
RCV000128499
RCV000128500
RCV000128501
RCV000128503
RCV000128504
View all (16 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pseudohypoaldosteronism type 2D Pathogenic; Likely pathogenic rs199469644, rs199469642, rs199469631, rs2149885426, rs2479925988, rs199469639, rs199469641, rs199469636, rs199469638, rs199469640, rs199469635, rs199469632, rs387907155, rs562736621, rs387907156 RCV001610387
RCV005042201
RCV002477257
RCV001533191
RCV004566388
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant pseudohypoaldosteronism type 1 Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA Gordon syndrome BEFREE 23387299, 23683032, 24641320, 28222034
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31171715 Associate
★☆☆☆☆
Found in Text Mining only
Congenital heart disease Congenital Heart Disease BEFREE 28315668
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 28315668
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 30914436
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension BEFREE 31096542
★☆☆☆☆
Found in Text Mining only
Essential Hypertension Hypertension Pubtator 31096542 Associate
★☆☆☆☆
Found in Text Mining only
Gordon syndrome Gorlin syndrome Pubtator 23387299 Associate
★☆☆☆☆
Found in Text Mining only
Hyperchloremia Hyperchloremia HPO_DG
★☆☆☆☆
Found in Text Mining only
Hyperpotassemia and Hypertension, Familial Hyperpotassemia And Hypertension CTD_human_DG 22406640
★☆☆☆☆
Found in Text Mining only