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

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