PCDH9 (Entrez ID: 5101)

Entrez Gene ID	5101
Official Gene Symbol	PCDH9 (GeneCards)
Full name	protocadherin 9
Location	13q21.32
Other ids	Vega : OTTHUMG00000017040 MIM : 603581 HGNC : HGNC:8661 Ensembl : ENSG00000184226
Other names	None
Summary	This gene encodes a member of the protocadherin family, and cadherin superfamily, of transmembrane proteins containing cadherin domains. These proteins mediate cell adhesion in neural tissues in the presence of calcium. The encoded protein may be involved in signaling at neuronal synaptic junctions. Sharing a characteristic with other protocadherin genes, this gene has a notably large exon that encodes multiple cadherin domains and a transmembrane region. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Nov 2012]

Variants

Found 14 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
17182	5101	PCDH9	13	67343936	67343936	Asymptomatic	HiSeq 2000
17194	5101	PCDH9	13	67499079	67499079	Asymptomatic	HiSeq 2000
17298	5101	PCDH9	13	67055785	67055785	Asymptomatic	HiSeq 2000 HiSeq X Ten
17315	5101	PCDH9	13	67262475	67262475	Asymptomatic	HiSeq 2000 HiSeq X Ten
17380	5101	PCDH9	13	67012788	67012788	Asymptomatic	HiSeq 2000 HiSeq X Ten
17393	5101	PCDH9	13	67173847	67173847	Asymptomatic	HiSeq 2000 HiSeq X Ten
17394	5101	PCDH9	13	67589913	67589913	Asymptomatic	HiSeq 2000 HiSeq X Ten
17422	5101	PCDH9	13	67866602	67866602	Asymptomatic	HiSeq 2000 HiSeq X Ten
17829	5101	PCDH9	13	67515398	67515398	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
17868	5101	PCDH9	13	67606369	67606369	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
17888	5101	PCDH9	13	67526509	67526509	Cockayne syndrome	HiSeq 2000 HiSeq X Ten
17935	5101	PCDH9	13	67352029	67352029	Xeroderma Pigmentosum	HiSeq 2000 HiSeq X Ten
17984	5101	PCDH9	13	67661455	67661455	Xeroderma Pigmentosum	HiSeq 2000 HiSeq X Ten
17988	5101	PCDH9	13	67502348	67502348	Xeroderma Pigmentosum	HiSeq 2000 HiSeq X Ten