Dsg4 (desmoglein 4) - Rat Genome Database

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Gene: Dsg4 (desmoglein 4) Rattus norvegicus
Analyze
Symbol: Dsg4
Name: desmoglein 4
RGD ID: 735015
Description: Enables calcium ion binding activity. Predicted to be involved in cell-cell adhesion. Predicted to act upstream of or within BMP signaling pathway; hair follicle development; and keratinocyte differentiation. Predicted to be located in plasma membrane. Predicted to be active in desmosome. Used to study alopecia and hypotrichosis. Human ortholog(s) of this gene implicated in hypotrichosis and hypotrichosis 6. Orthologous to human DSG4 (desmoglein 4); INTERACTS WITH acrylamide; alpha-Zearalanol; bisphenol A.
Type: protein-coding (Ensembl: pseudogene)
RefSeq Status: VALIDATED
Previously known as: desmoglein-4
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: Dsg4hr  
Genetic Models: OFA(SD)-Dsg4hr/Crl
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
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
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

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,ISO)
plasma membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
3. 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.
4. 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.
5. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
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. GOA pipeline RGD automated data 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:12705872   PMID:16382669   PMID:18692037   PMID:19683850   PMID:33995349  


Genomics

Comparative Map Data
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
(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
(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
(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
467 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:28
Count of miRNA genes:27
Interacting mature miRNAs:28
Transcripts:ENSRNOT00000038450
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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
2301409Cm70Cardiac mass QTL 700.001heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)18679125112205285Rat
12904716Am21Aortic mass QTL 210.005aorta mass (VT:0002845)aorta weight to aorta length to body weight ratio (CMO:0002722)18679125112205285Rat
8552968Pigfal19Plasma insulin-like growth factor 1 level QTL 1911.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)18125758124Rat
61388Bp2Blood pressure QTL 23.23arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)18135374722Rat
12904714Cm131Cardiac mass QTL 1310.002heart left ventricle mass (VT:0007031)heart left ventricle weight to body weight ratio (CMO:0000530)18679125112205285Rat
1641910Colcr3Colorectal carcinoma resistance QTL 35.020.000007intestine integrity trait (VT:0010554)poorly differentiated malignant colorectal tumor number (CMO:0002076)18224947722066430Rat
12904715Cm132Cardiac mass QTL 1320.001heart right ventricle mass (VT:0007033)heart right ventricle weight to body weight ratio (CMO:0000914)18679125112205285Rat
9589153Insul31Insulin level QTL 317.150.05blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)18142547119Rat
2312598Bp340Blood pressure QTL 3400.05arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)18130558703Rat
2300180Bmd67Bone mineral density QTL 674.80.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)18134291613Rat
9590248Scort10Serum corticosterone level QTL 1019.710.001blood corticosterone amount (VT:0005345)plasma corticosterone level (CMO:0001173)18125758124Rat
2299160Iddm35Insulin dependent diabetes mellitus QTL 352.79blood glucose amount (VT:0000188)age at onset/diagnosis of type 1 diabetes mellitus (CMO:0001140)18420794160377792Rat
2312568Glom21Glomerulus QTL 2120.005kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)18518585840503530Rat
11565454Kidm59Kidney mass QTL 590.001kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)18679125112205285Rat
2293661Bss50Bone structure and strength QTL 504.640.0003lumbar vertebra size trait (VT:0010518)lumbar vertebra trabecular cross-sectional area (CMO:0001692)18134291613Rat

Markers in Region
D18Rat147  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.21811,719,001 - 11,719,218 (+)MAPPERmRatBN7.2
Rnor_6.01812,053,943 - 12,054,159NCBIRnor6.0
Rnor_5.01811,851,810 - 11,852,026UniSTSRnor5.0
RGSC_v3.41812,171,531 - 12,171,748RGDRGSC3.4
RGSC_v3.41812,171,532 - 12,171,748UniSTSRGSC3.4
RGSC_v3.11812,198,178 - 12,198,394RGD
Celera1811,734,791 - 11,735,007UniSTS
RH 3.4 Map18133.1RGD
RH 3.4 Map18133.1UniSTS
RH 2.0 Map18759.5RGD
SHRSP x BN Map184.77RGD
Cytogenetic Map18p12UniSTS


Genetic Models
This gene Dsg4 is modified in the following models/strains:


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system hemolymphoid system integumental system musculoskeletal system reproductive system appendage
High
Medium
Low 1 1 1
Below cutoff 3 2 6 2 2 6 2

Sequence


RefSeq Acc Id: ENSRNOT00000038450   ⟹   ENSRNOP00000031941
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1811,720,975 - 11,756,234 (+)Ensembl
Rnor_6.0 Ensembl1812,056,113 - 12,092,858 (+)Ensembl
RefSeq Acc Id: NM_199490   ⟹   NP_955784
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81811,995,902 - 12,032,908 (+)NCBI
mRatBN7.21811,720,844 - 11,757,927 (+)NCBI
Rnor_6.01812,056,113 - 12,092,858 (+)NCBI
Rnor_5.01811,853,980 - 11,888,828 (+)NCBI
RGSC_v3.41812,173,507 - 12,209,833 (+)RGD
Celera1811,736,765 - 11,771,810 (+)RGD
Sequence:
Protein Sequences
Protein RefSeqs NP_955784 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAQ88398 (Get FASTA)   NCBI Sequence Viewer  
  EDL76089 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSRNOP00055024978
  ENSRNOP00060016732
  ENSRNOP00065020323
GenBank Protein Q6W3B0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_955784   ⟸   NM_199490
- Peptide Label: precursor
- UniProtKB: Q6W3B0 (UniProtKB/Swiss-Prot),   A6J2F7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000031941   ⟸   ENSRNOT00000038450
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6W3B0-F1-model_v2 AlphaFold Q6W3B0 1-1040 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:735015 AgrOrtholog
BioCyc Gene G2FUF-8233 BioCyc
Ensembl Genes ENSRNOG00000022364 Ensembl
  ENSRNOG00055018274 UniProtKB/Swiss-Prot
  ENSRNOG00060012521 UniProtKB/Swiss-Prot
  ENSRNOG00065015554 UniProtKB/Swiss-Prot
Ensembl Transcript ENSRNOT00055030994 UniProtKB/Swiss-Prot
  ENSRNOT00060021221 UniProtKB/Swiss-Prot
  ENSRNOT00065025837 UniProtKB/Swiss-Prot
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCF3-CBD (Catenin binding domain) UniProtKB/TrEMBL
InterPro 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-bd_sf UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
  Desmosomal_cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report rno:291754 UniProtKB/Swiss-Prot
NCBI Gene 291754 ENTREZGENE
PANTHER DESMOGLEIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DESMOGLEIN-4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam CADH_Y-type_LIR UniProtKB/TrEMBL
  Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot
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
RatGTEx ENSRNOG00000022364 RatGTEx
  ENSRNOG00055018274 RatGTEx
  ENSRNOG00060012521 RatGTEx
  ENSRNOG00065015554 RatGTEx
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Cadherin-like UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt A6J2F7 ENTREZGENE, UniProtKB/TrEMBL
  DSG4_RAT UniProtKB/Swiss-Prot, ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2004-09-10 Dsg4  desmoglein 4      Symbol and Name status set to approved 1299863 APPROVED