Homo sapiens Gene: DSG4
Summary
InnateDB Gene IDBG-2037.5
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DSG4
Gene Name desmoglein 4
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000175065
Encoded Proteins
desmoglein 4
desmoglein 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in 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 potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
Gene Information
Type Protein coding
Genomic Location Chromosome 18:31376777-31414912
Strand Forward strand
Band q12.1
Transcripts
ENST00000308128 ENSP00000311859
ENST00000359747 ENSP00000352785
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0005509 calcium ion binding
Biological Process
GO:0001942 hair follicle development
GO:0007156 homophilic cell adhesion
GO:0016337 single organismal cell-cell adhesion
GO:0030216 keratinocyte differentiation
GO:0030509 BMP signaling pathway
GO:0042640 anagen
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030057 desmosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt Q86SJ6
TrEMBL
UniProt Splice Variant
Entrez Gene 147409
UniGene Hs.407618
RefSeq NM_001134453 NM_177986
HUGO HGNC:21307
OMIM 607892
CCDS CCDS11897 CCDS45845
HPRD
IMGT
EMBL AY168788 AY177663 AY177664 AY227350 AY228236 BC039098 BC132907 BC132909
GenPept AAH39098 AAI32908 AAI32910 AAO43657 AAO47077 AAO47078 AAP45000 AAP49811
RNA Seq Atlas 147409