PTPRD (Entrez ID: 5789)

Entrez Gene ID	5789
Official Gene Symbol	PTPRD (GeneCards)
Full name	protein tyrosine phosphatase, receptor type D
Location	9p24.1-p23
Other ids	Vega : OTTHUMG00000021005 MIM : 601598 HGNC : HGNC:9668 Ensembl : ENSG00000153707
Other names	HPTP, PTPD, HPTPD, HPTPDELTA, RPTPDELTA
Summary	The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an extracellular region, a single transmembrane segment and two tandem intracytoplasmic catalytic domains, and thus represents a receptor-type PTP. The extracellular region of this protein is composed of three Ig-like and eight fibronectin type III-like domains. Studies of the similar genes in chicken and fly suggest the role of this PTP is in promoting neurite growth, and regulating neurons axon guidance. Multiple alternatively spliced transcript variants of this gene have been reported. A related pseudogene has been identified on chromosome 5. [provided by RefSeq, Jan 2010]

Variants

Found 46 variants in this database.

Variant ID	Entrez Gene ID	Gene	Chromsome	Start	End	Disease	Method
12915	5789	PTPRD	9	9233612	9233612	Asymptomatic	HiSeq X Ten
12952	5789	PTPRD	9	8910259	8910259	Asymptomatic	HiSeq X Ten HiSeq 2000
13013	5789	PTPRD	9	9032172	9032172	Asymptomatic	HiSeq X Ten HiSeq 2000
13031	5789	PTPRD	9	9447365	9447365	Asymptomatic	HiSeq X Ten HiSeq 2000
13042	5789	PTPRD	9	8715247	8715247	Asymptomatic	HiSeq X Ten HiSeq 2000
13043	5789	PTPRD	9	10226274	10226274	Asymptomatic	HiSeq X Ten HiSeq 2000
13045	5789	PTPRD	9	8868229	8868229	Asymptomatic	HiSeq X Ten HiSeq 2000
13064	5789	PTPRD	9	8378973	8378973	Asymptomatic	HiSeq X Ten HiSeq 2000
13089	5789	PTPRD	9	9983768	9983768	Asymptomatic	HiSeq X Ten HiSeq 2000
13103	5789	PTPRD	9	9235411	9235411	Asymptomatic	HiSeq X Ten HiSeq 2000
13282	5789	PTPRD	9	9348418	9348418	Asymptomatic	HiSeq X Ten HiSeq 2000
13283	5789	PTPRD	9	9398260	9398260	Asymptomatic	HiSeq X Ten HiSeq 2000
13284	5789	PTPRD	9	9780661	9780661	Asymptomatic	HiSeq X Ten HiSeq 2000
13295	5789	PTPRD	9	10375817	10375817	Asymptomatic	HiSeq X Ten HiSeq 2000
13312	5789	PTPRD	9	8392296	8392296	Asymptomatic	HiSeq X Ten HiSeq 2000
13324	5789	PTPRD	9	10216484	10216484	Asymptomatic	HiSeq X Ten HiSeq 2000
13330	5789	PTPRD	9	9573100	9573100	Asymptomatic	HiSeq X Ten HiSeq 2000
13385	5789	PTPRD	9	9148097	9148097	Asymptomatic	HiSeq X Ten HiSeq 2000
13415	5789	PTPRD	9	10196185	10196185	Asymptomatic	HiSeq X Ten HiSeq 2000
13423	5789	PTPRD	9	9161584	9161584	Asymptomatic	HiSeq X Ten HiSeq 2000
13437	5789	PTPRD	9	9812267	9812267	Asymptomatic	HiSeq X Ten HiSeq 2000
13449	5789	PTPRD	9	8945715	8945715	Asymptomatic	HiSeq X Ten HiSeq 2000
13450	5789	PTPRD	9	10040892	10040892	Asymptomatic	HiSeq X Ten HiSeq 2000
13469	5789	PTPRD	9	8476929	8476929	Asymptomatic	HiSeq X Ten HiSeq 2000
13470	5789	PTPRD	9	8972883	8972883	Asymptomatic	HiSeq X Ten HiSeq 2000
13471	5789	PTPRD	9	10258262	10258262	Asymptomatic	HiSeq X Ten HiSeq 2000
13510	5789	PTPRD	9	8327892	8327892	Asymptomatic	HiSeq X Ten HiSeq 2000
13541	5789	PTPRD	9	9484486	9484486	Asymptomatic	HiSeq X Ten HiSeq 2000
13580	5789	PTPRD	9	8783242	8783242	Asymptomatic	HiSeq X Ten HiSeq 2000
13600	5789	PTPRD	9	10206350	10206350	Asymptomatic	HiSeq X Ten HiSeq 2000
13608	5789	PTPRD	9	10265281	10265281	Asymptomatic	HiSeq X Ten HiSeq 2000
13642	5789	PTPRD	9	8987939	8987939	Cockayne syndrome	HiSeq X Ten HiSeq 2000
13645	5789	PTPRD	9	8386345	8386345	Cockayne syndrome	HiSeq X Ten HiSeq 2000
13716	5789	PTPRD	9	10352599	10352599	Cockayne syndrome	HiSeq X Ten HiSeq 2000
13734	5789	PTPRD	9	8610690	8610690	Cockayne syndrome	HiSeq X Ten HiSeq 2000
13748	5789	PTPRD	9	8646880	8646880	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
13813	5789	PTPRD	9	10265043	10265043	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
13819	5789	PTPRD	9	9218409	9218409	Xeroderma Pigmentosum	HiSeq X Ten HiSeq 2000
23467	5789	PTPRD	9	10161392	10161392	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
23468	5789	PTPRD	9	10161393	10161393	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
23469	5789	PTPRD	9	10161394	10161394	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
26830	5789	PTPRD	9	9735802	9735802	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning
29534	5789	PTPRD	9	8507360	8507360	Autism Spectrum Disorders	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning MiSeq
34449	5789	PTPRD	9	8401869	8401869	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning MiSeq Whole Genome Sequencing Ion Torrent PGM Sequencing
34450	5789	PTPRD	9	8468705	8468705	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning MiSeq Whole Genome Sequencing Ion Torrent PGM Sequencing
34451	5789	PTPRD	9	8695483	8695483	Asymptomatic	HiSeq X Ten HiSeq 2000 Single cell Sequencing Cell cloning MiSeq Whole Genome Sequencing Ion Torrent PGM Sequencing