PKDCC Chromosome 2
Protein kinase domain containing, cytoplasmic
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What This Gene Does
Enables non-membrane spanning protein tyrosine kinase activity. Involved in peptidyl-tyrosine phosphorylation and skeletal system development. Located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Divergent protein kinase domain family
Locus Type
gene with protein product
Location
2p21
Ensembl
ENSG00000162878
Associated Conditions (5)
Inborn genetic diseases
PKDCC-related disorder
Skeletal dysplasia
Rhizomelic limb shortening with dysmorphic features
Abnormality of the skeletal system
Key Variants
RS1325693451
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS534596867
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKDCC-related disorder, Skeletal dysplasia
Health Risk
RS61754921
Conflicting classifications of pathogenicity
Inborn genetic diseases, PKDCC-related disorder, Inborn genetic diseases
Health Risk
RS751205624
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1667907522
Likely pathogenic
Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
Health Risk
RS2103930689
Likely pathogenic
Health Risk
RS2465740345
Likely pathogenic
Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
Health Risk
RS369267445
Likely pathogenic
Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
Health Risk
RS1408935815
Pathogenic
Health Risk
RS2465376540
Pathogenic
Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features
Health Risk
RS2465740348
Pathogenic
Health Risk
RS2465741354
Pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1325693451 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS534596867 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PKDCC-related disorder, Skeletal dysplasia |
| RS61754921 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, PKDCC-related disorder, Inborn genetic diseases |
| RS751205624 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1667907522 | Health Risk | Likely pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS2103930689 | Health Risk | Likely pathogenic | — |
| RS2465740345 | Health Risk | Likely pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS369267445 | Health Risk | Likely pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS1408935815 | Health Risk | Pathogenic | — |
| RS2465376540 | Health Risk | Pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS2465740348 | Health Risk | Pathogenic | — |
| RS2465741354 | Health Risk | Pathogenic | — |
| RS2465741582 | Health Risk | Pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS761532715 | Health Risk | Pathogenic | Inborn genetic diseases, Rhizomelic limb shortening with dysmorphic features, Inborn genetic diseases |
| RS776527541 | Health Risk | Pathogenic | — |
| RS1158542233 | Health Risk | Pathogenic/Likely pathogenic | Rhizomelic limb shortening with dysmorphic features, Rhizomelic limb shortening with dysmorphic features |
| RS373676533 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the skeletal system, Rhizomelic limb shortening with dysmorphic features, Abnormality of the skeletal system |
| RS763243200 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Rhizomelic limb shortening with dysmorphic features, Inborn genetic diseases |