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    DSG4 desmoglein 4 [ Homo sapiens (human) ]

    Gene ID: 147409, updated on 5-Mar-2024

    Summary

    Official Symbol
    DSG4provided by HGNC
    Official Full Name
    desmoglein 4provided by HGNC
    Primary source
    HGNC:HGNC:21307
    See related
    Ensembl:ENSG00000175065 MIM:607892; AllianceGenome:HGNC:21307
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    Location:
    18q12.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (31376777..31414909)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31567308..31605438)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28956740..28994872)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904346 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28881307-28881808 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28909706-28910228 Neighboring gene desmoglein 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:28933613-28934812 Neighboring gene RNA, U6 small nuclear 167, pseudogene Neighboring gene DSG1 antisense RNA 1 Neighboring gene MPRA-validated peak3094 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9383 Neighboring gene desmoglein 3 Neighboring gene VISTA enhancer hs2166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13197 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9384 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13198 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13199 Neighboring gene NANOG hESC enhancer GRCh37_chr18:29096289-29096832 Neighboring gene desmoglein 2 Neighboring gene DSG2 antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in BMP signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell-cell adhesion IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in hair follicle development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in keratinocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in cornified envelope TAS
    Traceable Author Statement
    more info
     
    is_active_in desmosome IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    desmoglein-4
    Names
    cadherin family member 13

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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)

    1. NM_001134453.3NP_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, ENST00000359747.4
      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_177986.5NP_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
      A2RUI1, Q6Y9L9, Q86SJ6, Q8IXV4
      Related
      ENSP00000311859.4, ENST00000308128.9
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      31376777..31414909
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      31567308..31605438
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)