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DSG4 desmoglein 4 [ Homo sapiens (human) ]

Gene ID: 147409, updated on 3-Sep-2017
Official Symbol
DSG4provided by HGNC
Official Full Name
desmoglein 4provided by HGNC
Primary source
HGNC:HGNC:21307
See related
Ensembl:ENSG00000175065 MIM:607892; Vega:OTTHUMG00000131979
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAH; HYPT6; CDGF13; CDHF13
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]
Orthologs
Location:
18q12.1
Exon count:
16
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 18 NC_000018.10 (31376777..31415791)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28956740..28993880)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372049 Neighboring gene desmoglein 1 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene desmoglein 3 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • Formation of the cornified envelope, organism-specific biosystem (from REACTOME)
    Formation of the cornified envelope, organism-specific biosystemAs keratinocytes progress towards the upper epidermis, they undergo a unique process of cell death termed cornification (Eckhart et al. 2013). This involves the crosslinking of keratinocyte proteins ...
  • Keratinization, organism-specific biosystem (from REACTOME)
    Keratinization, organism-specific biosystemKeratins are the major structural protein of vertebrate epidermis, constituting up to 85% of a fully differentiated keratinocyte (Fuchs 1995). Keratins belong to a superfamily of intermediate filamen...
Products Interactant Other Gene Complex Source Pubs Description

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
BMP signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cornification TAS
Traceable Author Statement
more info
 
hair follicle development IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
 
keratinization TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cornified envelope TAS
Traceable Author Statement
more info
 
desmosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
desmoglein-4
Names
cadherin family member 13

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.

Genomic

  1. NG_013040.1 RefSeqGene

    Range
    5001..43133
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134453.2NP_001127925.1  desmoglein-4 isoform 1 precursor

    See identical proteins and their annotated locations for NP_001127925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon and uses an alternate in-frame splice site, both in the 3' coding region, compared to variant 2. The encoded isoform (1) is longer than isoform 2, but may undergo proteolytic processing similar to isoform 2.
    Source sequence(s)
    AC021549, AY168788, AY177664, BC039098, BC132907
    Consensus CDS
    CCDS45845.1
    UniProtKB/Swiss-Prot
    Q86SJ6
    Related
    ENSP00000352785.4, OTTHUMP00000262048, ENST00000359747.4, OTTHUMT00000447503
    Conserved Domains (3) summary
    cd11304
    Location:161265
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:75155
    CA; Cadherin repeats
    pfam01049
    Location:810865
    Cadherin_C; Cadherin cytoplasmic region
  2. NM_177986.4NP_817123.1  desmoglein-4 isoform 2 preproprotein

    See identical proteins and their annotated locations for NP_817123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the shorter transcript and encodes the shorter isoform (2).
    Source sequence(s)
    AC021549, AY177664, BC039098
    Consensus CDS
    CCDS11897.1
    UniProtKB/Swiss-Prot
    Q86SJ6
    Related
    ENSP00000311859.4, OTTHUMP00000162820, ENST00000308128.8, OTTHUMT00000254941
    Conserved Domains (3) summary
    cd11304
    Location:161265
    Cadherin_repeat; Cadherin tandem repeat domain
    smart00112
    Location:75155
    CA; Cadherin repeats
    pfam01049
    Location:791846
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p7 Primary Assembly

    Range
    31376777..31415791
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011525827.1XP_011524129.1  desmoglein-4 isoform X1

    Conserved Domains (1) summary
    pfam01049
    Location:325380
    Cadherin_C; Cadherin cytoplasmic region

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 Alternate CHM1_1.1

    Range
    28884023..28921163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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