Human Gene CDH3 (ENST00000264012.9) from GENCODE V44
Description: Homo sapiens cadherin 3 (CDH3), transcript variant 1, mRNA. (from RefSeq NM_001793) RefSeq Summary (NM_001793): This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. This gene is located in a gene cluster in a region on the long arm of chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition, aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]. Gencode Transcript: ENST00000264012.9 Gencode Gene: ENSG00000062038.15 Transcript (Including UTRs) Position: hg38 chr16:68,645,310-68,700,292 Size: 54,983 Total Exon Count: 16 Strand: + Coding Region Position: hg38 chr16:68,645,380-68,698,400 Size: 53,021 Coding Exon Count: 16
ID:CADH3_HUMAN DESCRIPTION: RecName: Full=Cadherin-3; AltName: Full=Placental cadherin; Short=P-cadherin; Flags: Precursor; FUNCTION: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. SUBUNIT: Interacts with CDCP1. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein. TISSUE SPECIFICITY: Expressed in some normal epithelial tissues and in some carcinoma cell lines. DISEASE: Defects in CDH3 are the cause of hypotrichosis with juvenile macular dystrophy (HJMD) [MIM:601553]. HJMD is a rare autosomal recessive disorder characterized by early hair loss heralding severe degenerative changes of the retinal macula and culminating in blindness during the second to third decade of life. DISEASE: Defects in CDH3 are the cause of ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM) [MIM:225280]; also known as EEM syndrome, Albrectsen-Svendsen syndrome or Ohdo- Hirayama-Terawaki syndrome. Ectodermal dysplasia defines a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. EEM is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. SIMILARITY: Contains 5 cadherin domains. WEB RESOURCE: Name=Mutations of the CDH3 gene; Note=Retina International's Scientific Newsletter; URL="http://www.retina-international.org/files/sci-news/cdh3mut.htm"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH3";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P22223
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.