Dsg4 (desmoglein 4) - Rat Genome Database

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Advanced Search (OLGA)
Gene: Dsg4 (desmoglein 4) Mus musculus
Analyze
Symbol: Dsg4
Name: desmoglein 4
RGD ID: 1550419
MGI Page MGI
Description: Predicted to enable calcium ion binding activity. Acts upstream of or within several processes, including BMP signaling pathway; hair follicle development; and keratinocyte differentiation. Located in desmosome. Is expressed in embryo; epidermis; and vibrissa. Used to study hypotrichosis 6. Human ortholog(s) of this gene implicated in hypotrichosis and hypotrichosis 6. Orthologous to human DSG4 (desmoglein 4).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: CDHF13; desmoglein-4; l; lah; lanceolate hair; MGC124398
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391820,569,234 - 20,606,191 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1820,569,232 - 20,604,878 (+)EnsemblGRCm39 Ensembl
GRCm381820,436,175 - 20,471,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1820,436,175 - 20,471,821 (+)EnsemblGRCm38mm10GRCm38
MGSCv371820,594,676 - 20,630,322 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361820,579,185 - 20,614,831 (+)NCBIMGSCv36mm8
Celera1820,940,658 - 20,976,720 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.35NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
desmosome  (IBA,IMP)
plasma membrane  (IEA)

Molecular Function
calcium ion binding  (IBA,IEA,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal coat appearance  (IAGP)
abnormal effector T cell morphology  (IAGP)
abnormal hair cortex morphology  (IAGP)
abnormal hair cycle anagen phase  (IAGP)
abnormal hair cycle catagen phase  (IAGP)
abnormal hair follicle inner root sheath morphology  (IEA)
abnormal hair follicle morphology  (IAGP)
abnormal hair follicle orientation  (IAGP)
abnormal hair growth  (IAGP)
abnormal hair shaft morphology  (IAGP)
abnormal hair texture  (IAGP)
abnormal mast cell morphology  (IAGP)
abnormal peripheral lymph node morphology  (IAGP)
abnormal sebaceous gland morphology  (IAGP)
abnormal skin condition  (IAGP)
abnormal skin pigmentation  (IAGP)
absent guard hair  (IEA)
absent vibrissae  (IAGP)
acanthosis  (IAGP)
alopecia  (IAGP)
brittle hair  (IEA)
decreased abdominal adipose tissue amount  (IAGP)
decreased birth body size  (IAGP)
decreased body size  (IAGP)
decreased body weight  (IAGP)
decreased skin tensile strength  (IAGP)
decreased subcutaneous adipose tissue amount  (IAGP)
deformed nails  (IAGP)
dermatitis  (IAGP)
distorted hair follicle pattern  (IAGP)
enlarged hair follicles  (IEA)
epidermal hyperplasia  (IAGP)
extended life span  (IAGP)
focal hair loss in abdominal region  (IEA)
focal hair loss in head/neck region  (IEA)
greasy coat  (IEA)
hair follicle degeneration  (IAGP)
hair follicle outer root sheath hyperplasia  (IAGP)
hyperkeratosis  (IAGP)
increased IgE level  (IAGP)
long toenails  (IAGP)
mixed cellular infiltration to dermis  (IAGP)
parakeratosis  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
reddish skin  (IEA)
rough coat  (IAGP)
scaly skin  (IAGP)
short hair  (IAGP)
short vibrissae  (IAGP)
skin edema  (IEA)
sparse hair  (IAGP)
thick dermal layer  (IAGP)
thick epidermis  (IAGP)
thick skin  (IAGP)
wavy vibrissae  (IAGP)
wrinkled skin  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat. Bazzi H, etal., Differentiation. 2004 Oct;72(8):450-64. doi: 10.1111/j.1432-0436.2004.07208010.x.
2. The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene. Jahoda CA, etal., Genomics 2004 May;83(5):747-56.
3. A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model. Meyer B, etal., Differentiation. 2004 Dec;72(9-10):541-7. doi: 10.1111/j.1432-0436.2004.07209007.x.
4. MGDs mouse GO annotations MGD data from the GO Consortium
5. MGD IEA MGD IEA
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. Rafiq MA, etal., J Invest Dermatol. 2004 Jul;123(1):247-8.
8. Mouse MP Annotation Import Pipeline RGD automated import pipeline
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8752833   PMID:10839719   PMID:12477932   PMID:12705872   PMID:12724416   PMID:12787123   PMID:16382669   PMID:18677469   PMID:18692037   PMID:19683850   PMID:21267068   PMID:21677750  
PMID:21873635   PMID:28378742   PMID:34905516  


Genomics

Comparative Map Data
Dsg4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391820,569,234 - 20,606,191 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1820,569,232 - 20,604,878 (+)EnsemblGRCm39 Ensembl
GRCm381820,436,175 - 20,471,821 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1820,436,175 - 20,471,821 (+)EnsemblGRCm38mm10GRCm38
MGSCv371820,594,676 - 20,630,322 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361820,579,185 - 20,614,831 (+)NCBIMGSCv36mm8
Celera1820,940,658 - 20,976,720 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1811.35NCBI
DSG4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381831,376,777 - 31,414,909 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1831,376,777 - 31,414,912 (+)EnsemblGRCh38hg38GRCh38
GRCh371828,956,740 - 28,994,872 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361827,210,738 - 27,247,877 (+)NCBINCBI36Build 36hg18NCBI36
Build 341827,210,737 - 27,247,877NCBI
Celera1825,763,866 - 25,801,005 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1825,812,756 - 25,849,925 (+)NCBIHuRef
CHM1_11828,884,023 - 28,921,163 (+)NCBICHM1_1
T2T-CHM13v2.01831,567,308 - 31,605,438 (+)NCBIT2T-CHM13v2.0
Dsg4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81811,995,902 - 12,032,908 (+)NCBIGRCr8
mRatBN7.21811,720,844 - 11,757,927 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1811,720,975 - 11,756,234 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1811,922,992 - 11,958,017 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01812,710,645 - 12,745,680 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01811,982,280 - 12,017,306 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01812,056,113 - 12,092,858 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1812,056,113 - 12,092,858 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01811,853,980 - 11,888,828 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41812,173,507 - 12,209,833 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11812,200,152 - 12,236,479 (+)NCBI
Celera1811,736,765 - 11,771,810 (+)NCBICelera
Cytogenetic Map18p12NCBI
Dsg4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540218,715,893 - 18,753,028 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540218,724,959 - 18,754,232 (+)NCBIChiLan1.0ChiLan1.0
DSG4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21748,769,668 - 48,807,807 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11834,462,264 - 34,500,403 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01824,595,021 - 24,633,182 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11828,192,145 - 28,230,358 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1828,192,145 - 28,230,358 (+)Ensemblpanpan1.1panPan2
DSG4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1758,101,294 - 58,135,376 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha757,536,708 - 57,572,413 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0758,084,931 - 58,120,641 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl758,087,374 - 58,128,806 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1757,761,254 - 57,796,970 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0757,787,371 - 57,823,079 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0758,076,538 - 58,112,235 (-)NCBIUU_Cfam_GSD_1.0
Dsg4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494453,801,958 - 53,827,629 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366821,803,862 - 1,841,396 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366821,803,862 - 1,829,352 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DSG4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6115,289,859 - 115,325,854 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16115,288,606 - 115,325,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26107,917,621 - 107,952,873 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DSG4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11849,316,206 - 49,343,929 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1849,317,150 - 49,353,635 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605023,961,606 - 23,998,838 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dsg4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247701,457,016 - 1,495,009 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247701,456,988 - 1,491,069 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Dsg4
1634 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:80
Count of miRNA genes:79
Interacting mature miRNAs:79
Transcripts:ENSMUST00000019426
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1558743Kcal1_mkilocalorie 1 (mouse)Not determined181901887453018992Mouse
11354953Mom21_mmodifier of Min 21 (mouse)18128893823Mouse
12910787Pwbwq18_mpost-weaning body weight QTL 18 (mouse)181826552930570819Mouse
12910819Ogrq6_moverall growth rate QTL 6 (mouse)181826552930570819Mouse
13207585Mwmlpt3_mMorris water maze latency to platform, training, 3 (mouse)18133547739Mouse
1301307Phospq1_mphospholipid QTL 1 (mouse)Not determined181813970452139859Mouse
13207589Mwmlpa3_mMorris water maze latency to platform, all, 3 (mouse)18133547739Mouse
1300638Im7_mimmunoregulatory 7 (mouse)Not determined181901887453018992Mouse
1558873Hrtfm7_mheart failure modifier 7 (mouse)Not determined18808696442087106Mouse
4142127Rafaril_mRafar interacting locus (mouse)Not determined18123108555Mouse
14928307Manh83_mmandible shape 83 (mouse)18126902168Mouse
12910805Pwbwq17_mpost-weaning body weight QTL 17 (mouse)181826552930570819Mouse
12801458Intmrm3_mintima/media ratio modifier 3 (mouse)18131720756Mouse
1300994Pvcan3_mprotection against vaginal candidiasis 3 (mouse)Not determined181619964050199776Mouse
13504732Cath6_mcarotid atherosclerosis 6 (mouse)181363712647637126Mouse
12801462Intim3_mintima modifier 3 (mouse)18131720756Mouse
4142250Idd21.3_minsulin dependent diabetes susceptibility 21.3 (mouse)Not determined18610840421646477Mouse
1558849W3q15_mweight 3 weeks QTL 15 (mouse)Not determined18504111961272643Mouse
1357603Mom3_mmodifier of Min 3 (mouse)Not determined181403002367098962Mouse
27226723Tibw9_mtibia width 9, proximal, 16 week (mouse)18320000060933072Mouse

Markers in Region
Dsg4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18A2UniSTS
cM Map188.0UniSTS


Expression

RNA-SEQ Expression


Sequence


Ensembl Acc Id: ENSMUST00000019426   ⟹   ENSMUSP00000019426
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1820,569,232 - 20,604,878 (+)Ensembl
GRCm38.p6 Ensembl1820,436,175 - 20,471,821 (+)Ensembl
RefSeq Acc Id: NM_181564   ⟹   NP_853543
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391820,569,234 - 20,606,191 (+)NCBI
GRCm381820,436,175 - 20,471,821 (+)ENTREZGENE
MGSCv371820,594,676 - 20,630,322 (+)RGD
Celera1820,940,658 - 20,976,720 (+)RGD
cM Map18 ENTREZGENE
Sequence:
Protein Sequences
Protein RefSeqs NP_853543 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAO41856 (Get FASTA)   NCBI Sequence Viewer  
  AAO91793 (Get FASTA)   NCBI Sequence Viewer  
  AAP44999 (Get FASTA)   NCBI Sequence Viewer  
  BAF43526 (Get FASTA)   NCBI Sequence Viewer  
  EDK96948 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSMUSP00000019426
  ENSMUSP00000019426.5
GenBank Protein Q7TMD7 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_853543   ⟸   NM_181564
- Peptide Label: preproprotein
- UniProtKB: Q7TMD7 (UniProtKB/Swiss-Prot),   A1IGX7 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSMUSP00000019426   ⟸   ENSMUST00000019426
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q7TMD7-F1-model_v2 AlphaFold Q7TMD7 1-1041 view protein structure

Promoters
RGD ID:13677194
Promoter ID:EPDNEW_M22746
Type:multiple initiation site
Name:Dsg4_1
Description:Mus musculus desmoglein 4 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381820,436,177 - 20,436,237EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:2661061 AgrOrtholog
Ensembl Genes ENSMUSG00000001804 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000019426 ENTREZGENE
  ENSMUST00000019426.5 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
InterPro Cadherin-domain_protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Desmosomal_cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report mmu:16769 UniProtKB/Swiss-Prot
MGD MGI:2661061 ENTREZGENE
NCBI Gene 16769 ENTREZGENE
PANTHER DESMOGLEIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DESMOGLEIN-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PhenoGen Dsg4 PhenoGen
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DESMOCADHERN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DESMOGLEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A1IGX6_MOUSE UniProtKB/TrEMBL
  A1IGX7 ENTREZGENE, UniProtKB/TrEMBL
  DSG4_MOUSE UniProtKB/Swiss-Prot
  Q330Q3_MOUSE UniProtKB/TrEMBL
  Q7TMD7 ENTREZGENE