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    DEFA6 defensin alpha 6 [ Homo sapiens (human) ]

    Gene ID: 1671, updated on 7-Apr-2024

    Summary

    Official Symbol
    DEFA6provided by HGNC
    Official Full Name
    defensin alpha 6provided by HGNC
    Primary source
    HGNC:HGNC:2765
    See related
    Ensembl:ENSG00000164822 MIM:600471; AllianceGenome:HGNC:2765
    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
    DEF6; HD-6
    Summary
    Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 6, is highly expressed in the secretory granules of Paneth cells of the small intestine, and likely plays a role in host defense of human bowel. [provided by RefSeq, Oct 2014]
    Expression
    Restricted expression toward small intestine (RPKM 3311.8) See more
    Orthologs
    NEW
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    Genomic context

    See DEFA6 in Genome Data Viewer
    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6924697..6926076, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6679697..6681075, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6782219..6783598, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene defensin beta 1 Neighboring gene ribosomal protein L23a pseudogene 96 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:6781443-6781943 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18889 Neighboring gene defensin alpha 4 Neighboring gene defensin alpha 8, pseudogene

    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
    Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia.
    EBI GWAS Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in antibacterial humoral response IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in cellular response to lipopolysaccharide IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to Gram-negative bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to Gram-positive bacterium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in defense response to fungus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in disruption of plasma membrane integrity in another organism IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in innate immune response in mucosa IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in killing of cells of another organism IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
     
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in transport vesicle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    defensin-6
    Names
    defensin, alpha 6, Paneth cell-specific

    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_001926.4NP_001917.1  defensin-6 preproprotein

      See identical proteins and their annotated locations for NP_001917.1

      Status: REVIEWED

      Source sequence(s)
      BC069667, BM855691
      Consensus CDS
      CCDS5960.1
      UniProtKB/Swiss-Prot
      Q01524, Q6EZF9
      Related
      ENSP00000297436.2, ENST00000297436.3
      Conserved Domains (2) summary
      pfam00323
      Location:7299
      Defensin_1; Mammalian defensin
      pfam00879
      Location:158
      Defensin_propep; Defensin propeptide

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      6924697..6926076 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      319821..321199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      6679697..6681075 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)