KLHL3 Chromosome 5
Kelch like family member 3
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What This Gene Does
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 via interaction of the BTB domain with the CUL3 (cullin 3) component of a cullin-RING E3 ubiquitin ligase (CRL) complex. Muatations in this gene cause pseudohypoaldosteronism type IID (PHA2D); a rare Mendelian syndrome featuring hypertension, hyperkalaemia and metabolic acidosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
"Kelch like|BTB domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
5q31.2
Ensembl
ENSG00000146021
Associated Conditions (5)
Pseudohypoaldosteronism type 2D
Inborn genetic diseases
Pseudohypoaldosteronism type 2A
Renal tubulopathies
Cerebral palsy
Key Variants
RS143617205
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
Health Risk
RS1561586322
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS183499982
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
Health Risk
RS199469643
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2A, Renal tubulopathies, Pseudohypoaldosteronism type 2A
Health Risk
RS1561616000
Likely pathogenic
Health Risk
RS199469631
Likely pathogenic
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A
Health Risk
RS199469635
Likely pathogenic
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D
Health Risk
RS199469642
Likely pathogenic
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A
Health Risk
RS2149876234
Likely pathogenic
Cerebral palsy, Cerebral palsy
Health Risk
RS2149885426
Likely pathogenic
Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D
Health Risk
RS199469623
Pathogenic
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A
Health Risk
RS199469624
Pathogenic
Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143617205 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS1561586322 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS183499982 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS199469643 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2A, Renal tubulopathies, Pseudohypoaldosteronism type 2A |
| RS1561616000 | Health Risk | Likely pathogenic | — |
| RS199469631 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469635 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469642 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS2149876234 | Health Risk | Likely pathogenic | Cerebral palsy, Cerebral palsy |
| RS2149885426 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS199469623 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469624 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469625 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469626 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469627 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469633 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469634 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469636 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469637 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469638 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469639 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |
| RS199469641 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469644 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A |
| RS199469647 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS199469648 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2A |
| RS2479925988 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS387907155 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS387907156 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS562736621 | Health Risk | Pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2D |
| RS199469632 | Health Risk | Pathogenic/Likely pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Renal tubulopathies |
| RS199469640 | Health Risk | Pathogenic/Likely pathogenic | Pseudohypoaldosteronism type 2D, Pseudohypoaldosteronism type 2A, Pseudohypoaldosteronism type 2D |