PCDH12 Chromosome 5
Protocadherin 12
Upload your DNA to see your personal genotypes for variants in PCDH12.
What This Gene Does
This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Non-clustered protocadherins
Locus Type
gene with protein product
Location
5q31.3
Ensembl
ENSG00000113555
Associated Conditions (9)
Diencephalic-mesencephalic junction dysplasia syndrome 1
Inborn genetic diseases
Marshall syndrome
Cerebellar ataxia
Dystonic disorder
Coats disease
Abnormal facial shape
Diencephalic-mesencephalic junction dysplasia
Disorder of development or morphogenesis
Key Variants
RS10040926
Conflicting classifications of pathogenicity
Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1
Health Risk
RS1255667756
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138473035
Conflicting classifications of pathogenicity
Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1
Health Risk
RS138811155
Conflicting classifications of pathogenicity
Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1
Health Risk
RS140094371
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140158416
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143421666
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145724323
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146725009
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150358276
Conflicting classifications of pathogenicity
Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1
Health Risk
RS150994175
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS151047883
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (52)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS10040926 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS1255667756 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138473035 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS138811155 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS140094371 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS140158416 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS143421666 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145724323 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS146725009 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS150358276 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS150994175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151047883 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199928581 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases |
| RS199966627 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200573476 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201826901 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2126919535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS368872362 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373091541 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS551312542 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS574087581 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS749648175 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS751172816 | Health Risk | Conflicting classifications of pathogenicity | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS759157268 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS763363704 | Health Risk | Conflicting classifications of pathogenicity | Marshall syndrome, Inborn genetic diseases, Marshall syndrome |
| RS773492439 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS781200540 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS867546656 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1389877870 | Health Risk | Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS148436079 | Health Risk | Likely pathogenic | — |
| RS1753211537 | Health Risk | Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS2126931148 | Health Risk | Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS2532556080 | Health Risk | Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS531630376 | Health Risk | Likely pathogenic | Cerebellar ataxia, Dystonic disorder, Coats disease |
| RS765136839 | Health Risk | Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS1048025807 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS1175979418 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia, Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia |
| RS1199523766 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia, Diencephalic-mesencephalic junction dysplasia |
| RS1596646372 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS1596646556 | Health Risk | Pathogenic | — |
| RS1753204589 | Health Risk | Pathogenic | — |
| RS2126927387 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS2532538096 | Health Risk | Pathogenic | — |
| RS2532551587 | Health Risk | Pathogenic | — |
| RS2532559070 | Health Risk | Pathogenic | — |
| RS2532559727 | Health Risk | Pathogenic | — |
| RS375346212 | Health Risk | Pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |
| RS148884293 | Health Risk | Pathogenic/Likely pathogenic | Diencephalic-mesencephalic junction dysplasia, Disorder of development or morphogenesis, Diencephalic-mesencephalic junction dysplasia |
| RS1753206427 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS370283860 | Health Risk | Pathogenic/Likely pathogenic | Diencephalic-mesencephalic junction dysplasia syndrome 1, Diencephalic-mesencephalic junction dysplasia syndrome 1 |