CA2 Chromosome 8
Carbonic anhydrase 2
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What This Gene Does
The protein encoded by this gene is one of several isozymes of carbonic anhydrase, which catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
Gene Info
Gene Group
Carbonic anhydrases
Locus Type
gene with protein product
Location
8q21.2
Ensembl
ENSG00000104267
Associated Conditions (6)
Osteopetrosis with renal tubular acidosis
CA2-related disorder
Inborn genetic diseases
Neurodevelopmental delay
CARBONIC ANHYDRASE II VARIANT
Osteopetrosis
Key Variants
RS140623407
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS148054811
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS370128128
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS371766356
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, CA2-related disorder, Osteopetrosis with renal tubular acidosis
Health Risk
RS761105696
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS768827690
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS886063149
Conflicting classifications of pathogenicity
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS1203921376
Likely pathogenic
Osteopetrosis with renal tubular acidosis, Neurodevelopmental delay, Osteopetrosis with renal tubular acidosis
Health Risk
RS1304160279
Likely pathogenic
Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
Health Risk
RS1450302081
Likely pathogenic
CA2-related disorder, CA2-related disorder
Health Risk
RS1469283598
Likely pathogenic
CA2-related disorder, CA2-related disorder
Health Risk
RS1811576779
Likely pathogenic
Neurodevelopmental delay, Neurodevelopmental delay
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140623407 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS148054811 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS370128128 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS371766356 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, CA2-related disorder, Osteopetrosis with renal tubular acidosis |
| RS761105696 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS768827690 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS886063149 | Health Risk | Conflicting classifications of pathogenicity | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS1203921376 | Health Risk | Likely pathogenic | Osteopetrosis with renal tubular acidosis, Neurodevelopmental delay, Osteopetrosis with renal tubular acidosis |
| RS1304160279 | Health Risk | Likely pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS1450302081 | Health Risk | Likely pathogenic | CA2-related disorder, CA2-related disorder |
| RS1469283598 | Health Risk | Likely pathogenic | CA2-related disorder, CA2-related disorder |
| RS1811576779 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS118203931 | Health Risk | Pathogenic | CARBONIC ANHYDRASE II VARIANT, CARBONIC ANHYDRASE II VARIANT |
| RS118203932 | Health Risk | Pathogenic | CARBONIC ANHYDRASE II VARIANT, CARBONIC ANHYDRASE II VARIANT |
| RS118203933 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS118203934 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS1444065478 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS1554709677 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS1564077060 | Health Risk | Pathogenic | — |
| RS2536489629 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS573750741 | Health Risk | Pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis, Osteopetrosis with renal tubular acidosis |
| RS2536489640 | Health Risk | Pathogenic/Likely pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS568377824 | Health Risk | Pathogenic/Likely pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |
| RS779869368 | Health Risk | Pathogenic/Likely pathogenic | Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis |