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PCDH19 (NM_001105243) - protocadherin 19

Protocadherin-19 Isoform A Precursor

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of PCDH19 protein. View all 3 isoforms
PCDH19: protocadherin-19 isoform a precursor
Description:

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].

Strand
-
Chromosome
X
Protein
1101 residues
All mutations
329
PTM sites
11
CDS
99,551,274 - 99,663,595
Transcription
99,546,641 - 99,665,271
33.51% of sequence is predicted to be disordered

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 57526
UniProt
Ensembl