Human Gene PCDHA6 (ENST00000529310.1) from GENCODE V45lift37
Description: Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 3, mRNA. (from RefSeq NM_031849) RefSeq Summary (NM_018909): This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]. Gencode Transcript: ENST00000529310.1 Gencode Gene: ENSG00000081842.13 Transcript (Including UTRs) Position: hg19 chr5:140,207,563-140,391,929 Size: 184,367 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr5:140,207,677-140,389,522 Size: 181,846 Coding Exon Count: 4
ID:PCDA6_HUMAN DESCRIPTION: RecName: Full=Protocadherin alpha-6; Short=PCDH-alpha-6; Flags: Precursor; FUNCTION: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain. SUBCELLULAR LOCATION: [Isoform 1]: Cell membrane ; Single- pass type I membrane protein SUBCELLULAR LOCATION: [Isoform 2]: Secreted SEQUENCE CAUTION: Sequence=AAF89691.1; Type=Erroneous initiation; Evidence=;
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Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): PCDHA6 CDC HuGE Published Literature: PCDHA6 Positive Disease Associations: Blood Pressure
, Body Mass Index Related Studies:
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 Q9UN73
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Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0005509 calcium ion binding
Biological Process: GO:0007155 cell adhesion GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007399 nervous system development
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
