DEFB4A defensin beta 4A [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB4Aprovided by HGNC
Official Full Name: defensin beta 4Aprovided by HGNC
Primary source: HGNC:HGNC:2767
See related: Ensembl:ENSG00000171711 MIM:602215; AllianceGenome:HGNC:2767
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: BD-2; SAP1; DEFB2; DEFB4; HBD-2; DEFB-2; DEFB102
Summary: Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 4, an antibiotic peptide which is locally regulated by inflammation. [provided by RefSeq, Jul 2008]
Expression: Biased expression in gall bladder (RPKM 1.2), esophagus (RPKM 0.7) and 3 other tissues See more
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Genomic context

Location:: 8p23.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (7894677..7896716)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (12040687..12042691)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7752199..7754238)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human beta-defensin 2: a connection between infections and allergic skin diseases.
Title: Human β-defensin 2: a connection between infections and allergic skin diseases.
Identification of human host factors required for beta-defensin-2 expression in intestinal epithelial cells upon a bacterial challenge.
Title: Identification of human host factors required for beta-defensin-2 expression in intestinal epithelial cells upon a bacterial challenge.
Salivary Th17 cytokine, human beta-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.
Title: Salivary Th17 cytokine, human β-defensin 1-3, and salivary scavenger and agglutinin levels in Crohn's disease.
Molecular Dynamics Simulations on Spike Protein Mutants Binding with Human beta Defensin Type 2.
Title: Molecular Dynamics Simulations on Spike Protein Mutants Binding with Human β Defensin Type 2.
beta-defensin 2 protects against Escherichia coli-induced acute urinary tract infection by downregulating beta-catenin.
Title: β-defensin 2 protects against Escherichia coli-induced acute urinary tract infection by downregulating β-catenin.
Therapeutic modalities of human beta defensin-2 with prospective significance in diabetic wound treatment.
Title: Therapeutic modalities of human β defensin-2 with prospective significance in diabetic wound treatment.
Human beta-defensin 2 ameliorates acute GVHD by limiting ileal neutrophil infiltration and restraining T cell receptor signaling.
Title: Human β-defensin 2 ameliorates acute GVHD by limiting ileal neutrophil infiltration and restraining T cell receptor signaling.
Antimicrobial peptide human beta-defensin-2 improves in vitro cellular viability and reduces pro-inflammatory effects induced by enteroinvasive Escherichia coli in Caco-2 cells by inhibiting invasion and virulence factors' expression.
Title: Antimicrobial peptide human β-defensin-2 improves in vitro cellular viability and reduces pro-inflammatory effects induced by enteroinvasive Escherichia coli in Caco-2 cells by inhibiting invasion and virulence factors' expression.
Cervicovaginal levels of human beta defensins during bacterial vaginosis.
Title: Cervicovaginal levels of human beta defensins during bacterial vaginosis.
Human beta-Defensin 2 and Its Postulated Role in Modulation of the Immune Response.
Title: Human β-Defensin 2 and Its Postulated Role in Modulation of the Immune Response.

Submit: New GeneRIF Correction See all GeneRIFs (260)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 SF33 and 92UG029 is inhibited by DEFB4A (hBD2) and DEFB103 (hBD3) in internalized compartments of infant tonsil cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	HIV-1 SF33 Env gp120 binds to DEFB4A (hBD2) and DEFB103 (hBD3) in polarized infant tonsil cells as shown through immunoprecipitation	PubMed
Tat	tat	Extracellular HIV-1 Tat upregulates the expression of human beta-defensin 2 (hBD-2) via JNK/NF-KappaB/AP-1-dependent pathways in human B cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483122

NoName (e-PCR)
- UniSTS:481406

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CCR6 chemokine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables CCR6 chemokine receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables chemoattractant activity	IBA Inferred from Biological aspect of Ancestor more info
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
involved_in antifungal innate immune response	IDA Inferred from Direct Assay 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 immune response mediated by antimicrobial peptide	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemotaxis	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to bacterium	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in defense response to fungus	IDA Inferred from Direct Assay more info	PubMed
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive chemotaxis	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 extracellular space	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: defensin beta 4A

Names: beta defensin-2; beta-defensin 4A; defensin, beta 2; defensin, beta 4; skin-antimicrobial peptide 1

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.