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DSG4 desmoglein 4 [ Homo sapiens (human) ]

Gene ID: 147409, updated on 19-Jul-2014
Official Symbol
DSG4provided by HGNC
Official Full Name
desmoglein 4provided by HGNC
Primary source
HGNC:21307
See related
Ensembl:ENSG00000175065; HPRD:06387; 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 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]
See DSG4 in Epigenomics, MapViewer
Location:
18q12.1
Exon count :
16
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 18 NC_000018.10 (31376777..31413917)
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 LOC101927698 Neighboring gene desmocollin 1 Neighboring gene uncharacterized LOC101927718 Neighboring gene desmoglein 1 Neighboring gene desmoglein 3 Neighboring gene uncharacterized LOC100652770 Neighboring gene desmoglein 2

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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
 
anagen IEA
Inferred from Electronic Annotation
more info
 
homophilic cell adhesion IEA
Inferred from Electronic Annotation
more info
 
keratinocyte differentiation IEA
Inferred from Electronic Annotation
more info
 
single organismal cell-cell adhesion IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
desmosome IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
desmoglein-4
Names
desmoglein-4
CDH family member 13
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 

    Range
    5001..42141
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134453.1NP_001127925.1  desmoglein-4 isoform 1 preproprotein

    See proteins identical to NP_001127925.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes a longer protein isoform (1).
    Source sequence(s)
    AY168788, AY177664, BC132907
    Consensus CDS
    CCDS45845.1
    UniProtKB/Swiss-Prot
    Q86SJ6
    Conserved Domains (2) summary
    cd11304
    Location:161265
    Blast Score: 254
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:810866
    Blast Score: 128
    Cadherin_C; Cadherin cytoplasmic region
  2. NM_177986.3NP_817123.1  desmoglein-4 isoform 2 preproprotein

    See proteins identical to NP_817123.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) includes an additional exon and uses an alternate splice acceptor site located in the penultimate exon, compared to variant 1, resulting in a shorter protein isoform (2).
    Source sequence(s)
    AC021549, AY177664
    Consensus CDS
    CCDS11897.1
    UniProtKB/Swiss-Prot
    Q86SJ6
    Related
    ENSP00000311859, OTTHUMP00000162820, ENST00000308128, OTTHUMT00000254941
    Conserved Domains (2) summary
    cd11304
    Location:161265
    Blast Score: 253
    Cadherin_repeat; Cadherin tandem repeat domain
    pfam01049
    Location:791847
    Blast Score: 127
    Cadherin_C; Cadherin cytoplasmic region

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000018.10 

    Range
    31376777..31413917
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000150.1 

    Range
    25812756..25849925
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018929.2 

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

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