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    DCD dermcidin [ Homo sapiens (human) ]

    Gene ID: 117159, updated on 17-Jun-2024

    Summary

    Official Symbol
    DCDprovided by HGNC
    Official Full Name
    dermcidinprovided by HGNC
    Primary source
    HGNC:HGNC:14669
    See related
    Ensembl:ENSG00000161634 MIM:606634; AllianceGenome:HGNC:14669
    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
    PIF; AIDD; DSEP; HCAP; DCD-1
    Summary
    This antimicrobial gene encodes a secreted protein that is subsequently processed into mature peptides of distinct biological activities. The C-terminal peptide is constitutively expressed in sweat and has antibacterial and antifungal activities. The N-terminal peptide, also known as diffusible survival evasion peptide, promotes neural cell survival under conditions of severe oxidative stress. A glycosylated form of the N-terminal peptide may be associated with cachexia (muscle wasting) in cancer patients. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DCD in Genome Data Viewer
    Location:
    12q13.2
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (54644589..54648365, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (54611207..54614982, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (55038373..55042149, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene glycosylation dependent cell adhesion molecule 1 (pseudogene) Neighboring gene lacritin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4532 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr12:55076686-55077355 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:55077356-55078026 Neighboring gene voltage dependent anion channel 1 pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_29528 Neighboring gene mucin like 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?

    Phenotypes

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC71930

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables lipid binding EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables monoatomic ion channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in defense response to bacterium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in killing by host of symbiont cells IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in extracellular exosome HDA PubMed 
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in extracellular region IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    dermcidin
    Names
    diffusible survival/evasion peptide
    preproteolysin
    proteolysis inducing factor
    survival promoting peptide

    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_001300854.2NP_001287783.1  dermcidin isoform 2 preproprotein

      See identical proteins and their annotated locations for NP_001287783.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longer transcript and encodes the longer isoform (2).
      Source sequence(s)
      AC079310, EF503689
      Consensus CDS
      CCDS73478.1
      UniProtKB/Swiss-Prot
      P81605
      Related
      ENSP00000406773.2, ENST00000456047.2
      Conserved Domains (1) summary
      pfam15291
      Location:19118
      Dermcidin; Dermcidin, antibiotic peptide
    2. NM_053283.4NP_444513.1  dermcidin isoform 1 preproprotein

      See identical proteins and their annotated locations for NP_444513.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks an alternate exon in the 3' coding region, resulting in a frameshift compared to variant 2. The encoded isoform (1) has a distinct C-terminus , and is shorter, compared to isoform 2.
      Source sequence(s)
      AC079310, EF503687
      Consensus CDS
      CCDS8884.1
      UniProtKB/Swiss-Prot
      A5JHP2, A5JHP3, P58461, P81605, Q53YJ2
      Related
      ENSP00000293371.6, ENST00000293371.11
      Conserved Domains (1) summary
      pfam15291
      Location:1997
      Dermcidin; antibiotic peptide

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      54644589..54648365 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      54611207..54614982 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)