PCDH12 protocadherin 12
Gene ID: 51294, updated on 11-Apr-2024Gene type: protein coding
Also known as: DMJDS1; VECAD2; VE-cadherin-2
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- Go to complete Gene record for PCDH12
- Go to Variation Viewer for PCDH12 variants
Summary
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]
Associated conditions
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Description | Tests |
---|---|
Diencephalic-mesencephalic junction dysplasia syndrome 1 | See labs |
Genomic context
- Location:
- 5q31.3
- Sequence:
- Chromosome: 5; NC_000005.10 (141943581..141958202, complement)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for PCDH12 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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