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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
321
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebral palsy Likely pathogenic rs2149876234 RCV001796572
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
RCV000128505
RCV000128506
RCV000128509
RCV000128510
RCV000128511
RCV000128512
RCV000128513
RCV000128516
RCV000128522
RCV000128507
RCV000128521
RCV000128519
RCV000128514
RCV000128515
RCV000128518
RCV000128523
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
RCV000023473
RCV000023474
RCV000023475
RCV000023476
RCV000023477
RCV000023479
RCV000023480
RCV000024252
RCV000024253
RCV000024254
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign; Uncertain significance rs35251512, rs4835684 RCV005897936
RCV005897937
Autosomal dominant pseudohypoaldosteronism type 1 Benign; Uncertain significance; Likely benign; Conflicting classifications of pathogenicity rs17171525, rs2301708, rs2905608, rs757402685, rs150624383, rs886059939, rs35251512, rs533076689, rs140696146, rs375193765, rs554048189, rs141393967, rs886059952, rs886059954, rs886059955
View all (69 more)
RCV000302139
RCV000363094
RCV000402327
RCV000391623
RCV000359806
RCV000271366
RCV000284577
RCV000356476
RCV000263739
RCV000384765
RCV000350076
RCV000391439
RCV000360313
RCV000324960
RCV000381929
RCV000328816
RCV000293639
RCV000366474
RCV000288224
RCV000407226
RCV000260732
RCV000391622
RCV000367069
RCV000277692
RCV000278859
RCV000373314
RCV000319685
RCV000390063
RCV000345668
RCV000407820
RCV000310832
RCV000260407
RCV000315677
RCV000267220
RCV000346710
RCV000264371
RCV000303268
RCV000271432
RCV000350908
RCV000309440
RCV000345479
RCV000407240
RCV000310581
RCV000286065
RCV000407828
RCV000311988
RCV000369136
RCV000378168
RCV000381525
RCV000385653
RCV000372230
RCV000279955
RCV000340706
RCV000391736
RCV000305809
RCV000334580
RCV000274396
RCV000370220
RCV000280954
RCV000340513
RCV000305112
RCV000278015
RCV000367355
RCV000403316
RCV000306347
RCV000365730
RCV000331105
RCV000339631
RCV000374322
RCV000365544
RCV000321200
RCV000324619
RCV000289437
RCV000292776
RCV000391462
RCV000314821
RCV000334647
RCV000299543
RCV000356876
RCV000267483
RCV000337464
RCV000399262
RCV000270829
RCV000331793
RCV000314020
RCV000370949
Cholangiocarcinoma Benign rs2905607 RCV005918885
Gastric cancer Benign rs2905607 RCV005918883
Associations from Text MiningDisease 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