Desmosomal Proteins, Genes & Expression Patterns
Human Information in BLUE --- Mouse Information in RED
Protein

Gene with Locus link
& Chromosome

Expression Pattern
Diseases with OMIM link
& Mutants
(see mutation table for more details)

Desmoplakin
Dp1 & 2
DPI, DPII

DSP

6p24
13 19.0 cM

DP1 is found in all desmosomes. DP2 is found predominantly in tissues & cells of stratified origin and is absent from heart.
DP1 & 2 are also found in endothelial cells lining capilliaries but not in larger blood vessels.
Cowin 1983, 1985; Schmelz1994a, 1994b

Striate palmoplantar keratoderma (SPPK)
DP null mice die E6.5 from extra-embryonic tissue defects. Rescued embryos die E9.5 of heart, epidermal, vascular & neuroepithelial defects.

Desmoglein 1
Dsg1
PFA
DG1, Band 3

DSG1

18q12.1
18 7.0 cM

Suprabasal layers of the epidermis
Arnemann 1993
; Elias 2001

SPPK
Pemphigus Foliaceous

Bullous Impetigo & Staphylococcal Scalded-Skin Syndrome

Desmoglein 2
Dsg2
DG1, Band 3

DSG2

18q12.1
All epithelia & heart Shafer 1994, King 1997

 

Desmoglein 3
Dsg3
PVA
DG1, Band 3

DSG3

18q12.1-q12.2
18 7.0 cM

Lower layers of epidermis & is high in stratified squamous epithelia e.g. oral mucosa. Limbus and conjunctiva.
Amagai 1996; Messent 2000

Pemphigus Vulgaris
Dsg null mice develop spontaneous mucous membrane blisters & hair loss.

Desmocollin 1
Dsc 1a
Dsc 1b
DGII/III,
Band4a/b

DSC1

18q12.1

Suprabasal layers of stratified tissues such as epidermis and tongue. Lymph nodes
Legan1994; King 1995; Nuber 1995

 

Desmocollin 2
Dsc 1a
Dsc 1b
DG II/III. Band4a/b

DSC2

18q12.1
18 7.0 cM

All tissues, tumors and cell lines known to have desmosomes Nuber 1995
Suprabasal layer of all stratified epithelia, simple epithelia heart and lymph nodes

Legan1994; King 1995;
Messent 2000

 

Desmocollin 3
Dsc 3a
Dsc 3b
DG II/III, Band4a/b

DSC3

18q12.1
18

Basal and immediately suprabasal layers in stratified epithelia. Limbus and conjunctiva Legan1994; King 1995; Chidgey 1997; Messent 2000

 

Plakoglobin
Pg
DPIII, Band 5

JUP

17q21
11 60.0 cM

All desmosomes and all adherens junctions Cowin 1983, 1986; Franke 1987a 1987b
Naxos Disease
PG null mice die from E10.5 onward due to severe heart defects & epidermal necrosis & acantholysis.

Plakophilin 1a, 1b
Pkp1
Band 6

PKP1

1q31.3

PKP1a & 1b are found in the nuclei of many cell types. 1a is found in desmosomes from suprabasal layers of complex & stratified epithelia and the ORS of hair follicles.
Schmidt 1997; Heid 1994
Ectodermal dysplasia

Plakophilin 2a, 2b
Pkp2

PKP2

12p11

PKP2a, b are found in nuclei of most cell types & at desmosomal plaques in most desmosome forming cells including heart.
Mertens 1996
 

Plakophilin 3
Pkp3

PKP3

11p15

In the desmosomes and nuclei of all simple and stratified epithelia except liver.
Bonne 1999, Schmidt 1999
 

Plakophilin 4
Pkp4
0071

PKP4 In the desmosomes and adherens junctions of epithelia & endothelia.
Hatzfeld 1996