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DEFA4 defensin alpha 4 [ Homo sapiens (human) ]

Gene ID: 1669, updated on 13-Oct-2022

Summary

Official Symbol
DEFA4provided by HGNC
Official Full Name
defensin alpha 4provided by HGNC
Primary source
HGNC:HGNC:2763
See related
Ensembl:ENSG00000164821 MIM:601157; AllianceGenome:HGNC:2763
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
HP4; DEF4; HP-4; HNP-4
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 are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]
Expression
Restricted expression toward bone marrow (RPKM 1355.2) See more
Orthologs
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Genomic context

See DEFA4 in Genome Data Viewer
Location:
8p23.1
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (6935820..6938306, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (6690512..6692998, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (6793342..6795828, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein L23a pseudogene 96 Neighboring gene defensin alpha 6 Neighboring gene defensin alpha 8, pseudogene Neighboring gene defensin alpha 9, 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?

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
env Human neutrophil alpha-defensin 4 (HNP4) is more effective than HNP1-3 in protecting human peripheral blood mononuclear cells from infection by both CXCR4- and CCR5-tropic HIV-1 strains, but HNP4 binds to both CD4 and gp120 weaker than does HNP1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC120099, MGC138296

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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
PubMed 
involved_in antibacterial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antifungal humoral response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
PubMed 
involved_in antimicrobial humoral response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cellular response to lipopolysaccharide IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to Gram-negative bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to Gram-positive bacterium IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
more info
PubMed 
involved_in defense response to fungus IDA
Inferred from Direct Assay
more info
PubMed 
involved_in innate immune response IDA
Inferred from Direct Assay
more info
PubMed 
involved_in innate immune response in mucosa IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 azurophil granule IDA
Inferred from Direct Assay
more info
PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
 
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in specific granule lumen TAS
Traceable Author Statement
more info
 
located_in transport vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
defensin alpha 4
Names
corticostatin
corticostatin HP-4
defensin, alpha 4, corticostatin
defensin, alpha 4, preproprotein
neutrophil defensin 4

NCBI Reference Sequences (RefSeq)

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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_001925.3NP_001916.1  defensin alpha 4 preproprotein

    See identical proteins and their annotated locations for NP_001916.1

    Status: REVIEWED

    Source sequence(s)
    BU616655, DN998607, X65977
    Consensus CDS
    CCDS5961.1
    UniProtKB/Swiss-Prot
    P12838, Q6EZF8
    Related
    ENSP00000297435.2, ENST00000297435.3
    Conserved Domains (2) summary
    pfam00323
    Location:6593
    Defensin_1; Mammalian defensin
    pfam00879
    Location:1251
    Defensin_propep; Defensin propeptide

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    6935820..6938306 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    330943..333429 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    6690512..6692998 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)