Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | PCDH19 | contributors: mct/npt - updated : 19-11-2019 |
HGNC name | protocadherin 19 |
HGNC id | 14270 |
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Corresponding disease |
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Location | Xq22.1 Physical location : 99.546.649 - 99.665.271 | ||
Synonym symbol(s) | KIAA1313, RP11-99E24.1, DKFZp686P1843, EFMR, EIEE9 |
DNA |
TYPE | functioning gene |
STRUCTURE | 118.63 kb 5 Exon(s) |
10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | provisional |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
cell lineage
cell lines
| fluid/secretion
| |
at STAGE |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
| |
motifs/domains
| |
| |
| |
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conjugated | GlycoP |
isoforms | Precursor |
HOMOLOGY |
interspecies | homolog to murine Pcdh19 protocadherin 19 |
intraspecies | homolog to cadherin |
Homologene |
FAMILY | |
|
CATEGORY | adhesion , receptor membrane |
SUBCELLULAR LOCALIZATION | plasma membrane,junction |
intracellular | |
intracellular,nuclear envelope,int | |
text | integral plasma membrane, putatively localized at the synaptic junction |
basic FUNCTION | |
| |
| |
|
CELLULAR PROCESS |
PHYSIOLOGICAL PROCESS | development , nervous system |
text |
PATHWAY |
metabolism |
signaling | signal transduction |
cell-cell signaling |
a component |
INTERACTION |
DNA |
RNA |
small molecule | metal binding, |
protein | |
|
cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | EFMR |
Susceptibility |
Variant & Polymorphism
| |
Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |