DSG4

DSG4 Gene Summary

This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded preproprotein is proteolytically processed to generate the mature protein. This protein is a transmembrane component of desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and monilethrix, characterized by impaired hair growth. [provided by RefSeq, May 2016]

Details

Type
Protein Coding
Official Symbol
DSG4
Official Name
desmoglein 4 [Source:HGNC Symbol;Acc:HGNC:21307]
Ensembl ID
ENSG00000175065
Bio databases IDs NCBI: 147409 Ensembl: ENSG00000175065
Aliases desmoglein 4
Synonyms
CDGF13,CDHF13,desmoglein 4,HYPT6,LAH
Species
Human, homo_sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Cadherin, Y-type LIR-motif
  • calcium ion binding
  • Cadherin repeat-like domain

Pathways

Biological processes and signaling networks where the DSG4 gene plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
  • TUBA3C
  • IQUB
  • GSC
  • RPN2
  • EIF4B
  • PTDSS1
  • FANCD2
  • SMARCD1
  • OAZ3
  • SGO2
disease
  • hypotrichosis type 6
  • androgenic alopecia
regulated by
  • HOXC12
  • KRT14
  • FOXN1
  • DSG1A/B/C
  • FNDC5
  • LEF1
  • HOXC13
  • DIO2
  • NOTCH1
regulates
  • Krtap5-2
  • Krt31 (includes others)
  • Krtap19-3
  • Krtap19-1
  • Krtap9-1/Krtap9-21
  • Krtap6-5
  • Krtap19-4
  • Krtap4-16
  • Krtap21-1
  • Krt86
role in cell
  • proliferation
  • differentiation
  • attachment
  • adhesion

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • cornified envelope
  • cell borders
  • cellular membrane
  • Mitochondria
  • desmosomes

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the DSG4 gene, providing context for its role in the cell.

BIOLOGICAL PROCESS

Functions and activities the gene product is involved in
  • keratinocyte differentiation
  • hair follicle development
  • BMP signaling pathway
  • homophilic cell adhesion

CELLULAR COMPONENT

Where in the cell the gene product is active
  • cornified envelope
  • desmosome
  • plasma membrane

MOLECULAR FUNCTION

What the gene product does at the molecular level
  • calcium ion binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.