Human Gene PCDH19 (ENST00000255531.8) from GENCODE V44
Description: Homo sapiens protocadherin 19 (PCDH19), transcript variant 1, mRNA. (from RefSeq NM_001105243) RefSeq Summary (NM_001105243): The protein encoded by this gene is a member of the delta-2 protocadherin subclass of the cadherin superfamily. The encoded protein is thought to be a calcium-dependent cell-adhesion protein that is primarily expressed in the brain. Mutations in this gene on human chromosome X are associated with sporadic infantile epileptic encephalopathy and to a female-restricted form of epilepsy (EFMR; also known as PCDH19RE). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]. Gencode Transcript: ENST00000255531.8 Gencode Gene: ENSG00000165194.15 Transcript (Including UTRs) Position: hg38 chrX:100,291,646-100,408,597 Size: 116,952 Total Exon Count: 5 Strand: - Coding Region Position: hg38 chrX:100,296,277-100,408,597 Size: 112,321 Coding Exon Count: 5
ID:PCD19_HUMAN DESCRIPTION: RecName: Full=Protocadherin-19; Flags: Precursor; FUNCTION: Potential calcium-dependent cell-adhesion protein. SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity). TISSUE SPECIFICITY: Moderately expressed in all regions of the brain examined, with lowest levels found in the cerebellum. Moderate expression is also found in ovary, and low expression in all other tissues tested. Also detected in primary skin fibroblast. DEVELOPMENTAL STAGE: Expressed in developing cortical plate, amygdala and subcortical regions and in the ganglionic eminence. DISEASE: Defects in PCDH19 are the cause of epileptic encephalopathy early infantile type 9 (EIEE9) [MIM:300088]; also known as epilepsy female-restricted with mental retardation. A condition characterized by seizure with onset in infancy or early childhood, cognitive impairment, and delayed development of variable severity in some patients. Additional features include autistic signs and psychosis. The disorder is sex-limited, with the phenotype being restricted to females. SIMILARITY: Contains 6 cadherin domains. SEQUENCE CAUTION: Sequence=CAH18133.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI41393.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI41394.1; Type=Erroneous initiation; Note=Translation N-terminally extended; WEB RESOURCE: Name=X-chromosome gene database Protocadherin 19 (PCDH19); Note=Leiden Open Variation Database (LOVD); URL="http://www.LOVD.nl/PCDH19";
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 Q8TAB3
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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.
US Server
