Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	DSP
Symbol Alias	KPPS2, PPKS2, DPI, DPII
Approved Name	desmoplakin
Previous Name	desmoplakin (DPI, DPII)
Location	6p24.3
Position	chr6:7541575-7586717, 1
External Links	HGNC: 3052 Entrez Gene: 1832 Ensembl: ENSG00000096696 UCSC: uc003mxp.1
No. of Studies	1 (Positive: 0; Negative: 0; trend: 1)
Overlap with SZ?	NO
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Jamain, S., 2014	SNP: rs823692	It showed nominal evidence for association with BD.	Trend	Comment on Study

Gene functional annotation

Gene related GO terms (count: 33)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0005634	nucleus	cellular component	IDA[21630459]	283
GO:0005886	plasma membrane	cellular component	IDA[16917092]; TAS	360
GO:0030674	protein binding, bridging	molecular function	IDA[10908733]	8
GO:0005198	structural molecule activity	molecular function	IDA[10908733]	14

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0008544	epidermis development	biological process	TAS[9887343]	7
GO:0070062	extracellular vesicular exosome	cellular component	IDA[19056867]	176
GO:0005200	structural constituent of cytoskeleton	molecular function	TAS[9887343]	9
GO:0003223	ventricular compact myocardium morphogenesis	biological process	ISS[16917092]	1
GO:0002934	desmosome organization	biological process	ISS[16917092]	1
GO:0014704	intercalated disc	cellular component	IDA[22781308]	8
GO:0086091	regulation of heart rate by cardiac conduction	biological process	IMP[12373648]	6
GO:0050839	cell adhesion molecule binding	molecular function	IEA	6
GO:0018149	peptide cross-linking	biological process	IDA[10908733]	2
GO:0016323	basolateral plasma membrane	cellular component	IEA	21
GO:0086073	bundle of His cell-Purkinje myocyte adhesion involved in cell communication	biological process	IMP[12373648]	2
GO:0005515	protein binding	molecular function	IPI[10852826]	563
GO:0045109	intermediate filament organization	biological process	ISS[16917092]	3
GO:0042060	wound healing	biological process	IEA	9
GO:0071896	protein localization to adherens junction	biological process	ISS[16917092]	1
GO:0001533	cornified envelope	cellular component	IDA[10908733]	2
GO:0005080	protein kinase C binding	molecular function	IPI[18474624]	7
GO:0030057	desmosome	cellular component	IEA	2
GO:0034332	adherens junction organization	biological process	IEA	6
GO:0005916	fascia adherens	cellular component	IEA	4
GO:0006921	cellular component disassembly involved in execution phase of apoptosis	biological process	TAS	3
GO:0005882	intermediate filament	cellular component	ISS[16917092]	8
GO:0030216	keratinocyte differentiation	biological process	IDA[10908733]	3
GO:0098911	regulation of ventricular cardiac muscle cell action potential	biological process	IMP[12373648]	3
GO:0044822	poly(A) RNA binding	molecular function	IDA[22658674]	44
GO:0006915	apoptotic process	biological process	TAS	39
GO:0005739	mitochondrion	cellular component	IEA	75
GO:0086083	cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication	molecular function	IC[12373648]	2
GO:0097110	scaffold protein binding	molecular function	IPI[10852826]	5

Gene related KEGG pathways (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 22)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
DSP	CDH5	NO	in vitro;yeast 2-hybrid	9739078
DSP	CASP9	NO	in vitro	15500642
DSP	ARID3A	NO	in vivo	9780002
DSP	JUP	NO	in vivo;yeast 2-hybrid	9348293
DSP	CASP6	NO	in vitro	15500642
DSP	PECAM1	NO	in vitro;in vivo	10801826
DSP	PKP2	NO	in vivo;yeast 2-hybrid	11790773
DSP	KRT1	NO	in vitro;yeast 2-hybrid	9261168
DSP	CASP4	NO	in vitro	15500642
DSP	EVPL	NO	in vivo	8999895
DSP	CASP10	NO	in vitro	15500642
DSP	COL17A1	NO	in vitro;yeast 2-hybrid	12482924
DSP	DES	NO	in vitro;yeast 2-hybrid	9261168
DSP	KRT5	NO	in vitro;in vivo	7525601
DSP	VIM	NO	in vitro;yeast 2-hybrid	9261168
DSP	CASP2	NO	in vitro	15500642
DSP	CASP7	NO	in vitro	15500642
DSP	PRKACA	NO	in vivo	7525582
DSP	DSC1	NO	in vitro	9606214
DSP	PKP4	NO	in vivo;yeast 2-hybrid	12426320
DSP	PKP1	YES	in vitro;in vivo	10852826
DSP	KRT6A	NO	in vitro	7525601

Related other genetic factors

Gene related SNPs (count: 1)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs823692	chr6:7490384 - 7490384(1)		1(0/0/1)

LD-proxies (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 2)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 6	chr6:0-170805979	3 (0/3/0)
6p24	chr6:7100000-13400000	1 (0/0/1)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Gene relationship with MDD

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Region: chr6:7541575..7586717 View in gBrowse