Dsp
Gene Detail

Symbol Name ID

Dsp desmoplakin MGI:109611

Synonyms

2300002E22Rik, 5730453H04Rik, DP

Feature Type

protein coding gene

Genetic Map

Chromosome 13

18.00 cM
Detailed Genetic Map ± 1 cM


Mapping data(7)

Sequence Map

Chr13:38151328-38198577 bp, + strand From VEGA annotation of GRCm38   47250 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:37922  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken

Gene Tree: Dsp

Human homologs

Human Homolog		DSP, desmoplakin
NCBI Gene ID		1832
neXtProt AC		NX_P15924
Human Synonyms		DP, DPI, DPII
Human Chr (Location)		6p24; chr6:7541870-7586946 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human DSP

Alleles and phenotypes

All alleles(5) : Targeted(2) Gene trapped(3)
 

Homozygous targeted null mutants die by embryonic day E6.5 due to instability of desmosomes and tissue integrity; rescue by aggregation with wild-type tetraploid morulae increase embyronic survival with noted major defects in heart muscle, neuroepithelium and epidermis; conditional knockouts that are epidermal-specific have compositionally altered epidermal desmosomes.

 

Gene Ontology (GO) classifications

All GO classifications: (36 annotations)

Process	adherens junction organization, bundle of His cell to Purkinje myocyte communication, ...
Component	basolateral plasma membrane, cell-cell junction, ...
Function	protein binding, protein binding, bridging, ...

External Resources: FuncBase

Expression

Literature Summary: (37 records)
Data Summary: Results (288)    Tissues (60)    Images (56)
Theiler Stages: 8, 10, 11, 12, 13, 14, 15, 18, 23, 25, 28

Assay Type	Results
Immunohistochemistry	13
RNA in situ	274
Western blot	1

cDNA source data(10)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(11) cDNA(10) Primer pair(1)
Microarray probesets(5)

Other database links

VEGA Gene Model	OTTMUSG00000032599 (Evidence)
Ensembl Gene Model	ENSMUSG00000054889 (Evidence)
Entrez Gene	109620 (Evidence)
DFCI	TC1599387, TC1655017, TC1750458
DoTS	DT.40180834, DT.535228, DT.94237242
Consensus CDS Project	CCDS49239.1
International Mouse Knockout Project Status	Dsp

Sequences

Length	Strain/Species
genomic	OTTMUSG00000032599	VEGA Gene Model | MGI Sequence Detail	47250	C57BL/6J
transcript	OTTMUST00000081065	VEGA | MGI Sequence Detail	9538	Not Applicable
polypeptide	OTTMUSP00000043295	VEGA | MGI Sequence Detail	2883	Not Applicable

All sequences(37) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(260 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR001101	Plectin repeat
InterPro	IPR018159	Spectrin/alpha-actinin
Protein Ontology	PR:000006711	desmoplakin

References

(Earliest) J:29901 Proetzel G, et al., Transforming growth factor-beta 3 is required for secondary palate fusion. Nat Genet. 1995 Dec;11(4):409-14
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(84)

Other accession IDs

MGD-MRK-39610, MGI:1924017, MGI:2145143, MGI:2145144, MGI:2145412