CLCN5 Chromosome X
Cl-/H+ antiporter 5
Upload your DNA to see your personal genotypes for variants in CLCN5.
What This Gene Does
This gene encodes a member of the ClC family of chloride ion channels and ion transporters. The encoded protein is primarily localized to endosomal membranes and may function to facilitate albumin uptake by the renal proximal tubule. Mutations in this gene have been found in Dent disease and renal tubular disorders complicated by nephrolithiasis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
"CLC chloride channel and transporter family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000171365
Associated Conditions (19)
Dent disease type 1
X-linked recessive nephrolithiasis with renal failure
Proteinuria
low molecular weight
with hypercalciuria and nephrocalcinosis
Hypophosphatemic rickets
X-linked recessive
Inborn genetic diseases
CLCN5-related disorder
Nonpapillary renal cell carcinoma
Hyperkalemia
Multiple small medullary renal cysts
Low-molecular-weight proteinuria
Thyroid cancer
nonmedullary
1
Nephrotic syndrome
Dent disease
Familial X-linked hypophosphatemic vitamin D refractory rickets
Key Variants
RS140312372
Conflicting classifications of pathogenicity
Dent disease type 1, Dent disease type 1
Health Risk
RS147798092
Conflicting classifications of pathogenicity
X-linked recessive nephrolithiasis with renal failure, Dent disease type 1, Proteinuria
Health Risk
RS148124447
Conflicting classifications of pathogenicity
Dent disease type 1, X-linked recessive nephrolithiasis with renal failure, Hypophosphatemic rickets
Health Risk
RS151340624
Conflicting classifications of pathogenicity
X-linked recessive nephrolithiasis with renal failure, CLCN5-related disorder, Proteinuria
Health Risk
RS151340626
Conflicting classifications of pathogenicity
Hypophosphatemic rickets, X-linked recessive, Dent disease type 1
Health Risk
RS2147605140
Conflicting classifications of pathogenicity
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Health Risk
RS368039993
Conflicting classifications of pathogenicity
Dent disease type 1, Dent disease type 1
Health Risk
RS55676763
Conflicting classifications of pathogenicity
Dent disease type 1, Inborn genetic diseases, CLCN5-related disorder
Health Risk
RS781912440
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781948493
Conflicting classifications of pathogenicity
Dent disease type 1, Dent disease type 1
Health Risk
RS782031818
Conflicting classifications of pathogenicity
Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
Health Risk
RS782056386
Conflicting classifications of pathogenicity
Dent disease type 1, Hypophosphatemic rickets, X-linked recessive
Health Risk
All Variants (116)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2519444761 | Health Risk | Likely pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2519445104 | Health Risk | Likely pathogenic | CLCN5-related disorder, CLCN5-related disorder |
| RS273585644 | Health Risk | Likely pathogenic | Dent disease type 1, Dent disease type 1 |
| RS782720805 | Health Risk | Likely pathogenic | Dent disease type 1, Dent disease type 1 |
| RS782733541 | Health Risk | Likely pathogenic | Dent disease type 1, Dent disease type 1 |
| RS151340620 | Health Risk | Pathogenic | Dent disease type 1, Proteinuria, low molecular weight |
| RS151340621 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS151340622 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS151340623 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS151340625 | Health Risk | Pathogenic | Dent disease type 1, X-linked recessive nephrolithiasis with renal failure, Dent disease type 1 |
| RS151340627 | Health Risk | Pathogenic | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| RS151340628 | Health Risk | Pathogenic | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| RS151340629 | Health Risk | Pathogenic | X-linked recessive nephrolithiasis with renal failure, X-linked recessive nephrolithiasis with renal failure |
| RS151340630 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1557192084 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1557194018 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1569540047 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1569540051 | Health Risk | Pathogenic | — |
| RS1569540369 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1569540382 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1569540520 | Health Risk | Pathogenic | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| RS1602123307 | Health Risk | Pathogenic | — |
| RS1933254254 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1933255436 | Health Risk | Pathogenic | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis |
| RS1933380245 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1933652537 | Health Risk | Pathogenic | Nephrotic syndrome, Nephrotic syndrome |
| RS1933873534 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1933891368 | Health Risk | Pathogenic | Dent disease type 1, Proteinuria, low molecular weight |
| RS1933898062 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1933903437 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1934037265 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1934037561 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1934039336 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1934041295 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS1934069016 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2147582103 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2147594126 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2147594216 | Health Risk | Pathogenic | — |
| RS2147595436 | Health Risk | Pathogenic | — |
| RS2147596542 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2147607713 | Health Risk | Pathogenic | — |
| RS2519406951 | Health Risk | Pathogenic | — |
| RS2519419481 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2519431860 | Health Risk | Pathogenic | — |
| RS2519433160 | Health Risk | Pathogenic | — |
| RS2519433497 | Health Risk | Pathogenic | — |
| RS2519434808 | Health Risk | Pathogenic | — |
| RS2519435022 | Health Risk | Pathogenic | Dent disease type 1, Dent disease type 1 |
| RS2519435176 | Health Risk | Pathogenic | — |
| RS2519444329 | Health Risk | Pathogenic | — |