Dsg4 desmoglein 4 [Rattus norvegicus (Norway rat)] - Gene

Summary

Official Symbol: Dsg4provided by RGD
Official Full Name: desmoglein 4provided by RGD
Primary source: RGD:735015
See related: EnsemblRapid:ENSRNOG00000022364 AllianceGenome:RGD:735015
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Rattus norvegicus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
Summary: 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). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in Muscle (RPKM 2.7), Heart (RPKM 0.4) and 1 other tissue See more
Orthologs: human mouse all
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Genomic context

Location:: 18p12

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCr8 (GCF_036323735.1)	18	NC_086036.1 (11995902..12032908)
RS_2023_06	previous assembly	mRatBN7.2 (GCF_015227675.2)	18	NC_051353.1 (11720844..11757927)
106	previous assembly	Rnor_6.0 (GCF_000001895.5)	18	NC_005117.4 (12056113..12092858)

Chromosome 18 - NC_086036.1 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
BioProject: PRJNA238328
Publication: PMID 24510058
Analysis date: Mon Jun 6 17:44:12 2016

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.
Title: Desmoglein-4 Deficiency Exacerbates Psoriasiform Dermatitis in Rats While Psoriasis Patients Displayed a Decreased Gene Expression of DSG4.
show that HOXC13, LEF1 and FOXN1 repress DSG4 transcription and provide in vitro and in vivo evidence correlating the Notch pathway with the activation and/or maintenance of DSG4 expression in the hair follicle.
Title: Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation.
We identified a homozygous missense mutation in the lanceolate (lah/lah) rat.
Title: Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats.
A spontaneous mutation in dsg4 underlies hypotrichosis in a new lanceolate hair rat model.
Title: A spontaneous mutation in the desmoglein 4 gene underlies hypotrichosis in a new lanceolate hair rat model.
A large intragenic deletion encompassing nine exons of the desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat.
Title: Intragenic deletion in the Desmoglein 4 gene underlies the skin phenotype in the Iffa Credo "hairless" rat.
cloning and identification of the rat Dsg4 gene, and identification of a missense mutation in a naturally occurring lanceolate hair (lah) rat mutant
Title: The lanceolate hair rat phenotype results from a missense mutation in a calcium coordinating site of the desmoglein 4 gene.

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General gene information

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Markers

D18Rat147 (e-PCR)
- UniSTS:226936

Dsg4 (e-PCR), detects polymorphism
- UniSTS:257219

Gene Ontology Provided by RGD

Function	Evidence Code	Pubs
enables calcium ion binding	IBA Inferred from Biological aspect of Ancestor more info
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within BMP signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in cell adhesion	TAS Traceable Author Statement more info	PubMed
involved_in cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell adhesion	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle development	ISO Inferred from Sequence Orthology more info
involved_in homophilic cell adhesion via plasma membrane adhesion molecules	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within keratinocyte differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
is_active_in desmosome	IBA Inferred from Biological aspect of Ancestor more info
located_in desmosome	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: desmoglein-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_199490.3 → NP_955784.1 desmoglein-4 precursor

See identical proteins and their annotated locations for NP_955784.1

Status: VALIDATED

Source sequence(s)

JAXUCZ010000018

UniProtKB/Swiss-Prot

Q6W3B0

UniProtKB/TrEMBL

A6J2F7

Related

ENSRNOP00000105283.1, ENSRNOT00000038450.4

Conserved Domains (2) summary

cd11304
Location:161 → 265

Cadherin_repeat; Cadherin tandem repeat domain

pfam01049
Location:790 → 845

Cadherin_C; Cadherin cytoplasmic region