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

Summary

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Official Symbol: DEFB4Aprovided by HGNC
Official Full Name: defensin, beta 4Aprovided by HGNC
Primary source: HGNC:2767
See related: Ensembl:ENSG00000171711; HPRD:03739; MIM:602215; Vega:OTTHUMG00000129314
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]

Genomic context

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Location :: 8p23.1

Sequence :: Chromosome: 8; NC_000008.10 (7752199..7754237)

See DEFB4A in Epigenomics, MapViewer

Chromosome 8 - NC_000008.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

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Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

In severe necrotizing enterocolitis, low hBD2 expression was accompanied by low TLR4/MD2 expression, suggesting an inadequate response to luminal bacteria, possibly predisposing those infants to the development of NEC.
Title: Human β-defensin 2 expression in ELBW infants with severe necrotizing enterocolitis.
HBD2 is expressed in tonsils and its levels are reduced in patients with allergic rhinitis.
Title: Reduced tonsillar expression of human β-defensin 1, 2 and 3 in allergic rhinitis.
Binding of peptides corresponding to the carboxy-terminal region of human-beta-defensins-1-3 with model membranes investigated by isothermal titration calorimetry.
Title: Binding of peptides corresponding to the carboxy-terminal region of human-β-defensins-1-3 with model membranes investigated by isothermal titration calorimetry.
Both Streptococcus gordonii and Porphyromonas gingivalis induced the mRNA-expression of hBD-2 and hBD-3 in gingival epithelial cells as well as fibroblasts after 24 hrs.
Title: Antimicrobial responses of primary gingival cells to Porphyromonas gingivalis.
The beta-defensin 2 gene was expressed when NCTC 2544 cells were treated with lipopolysaccharides. Expression of the beta-defensin 2 gene was also found in cells treated with hyaluronic acid and Plantaricin A preparations.
Title: The antimicrobial peptide pheromone Plantaricin A increases antioxidant defenses of human keratinocytes and modulates the expression of filaggrin, involucrin, β-defensin 2 and tumor necrosis factor-α genes.
There is an association of beta-defensin copy number and psoriasis in three cohorts of European origin.
Title: Association of β-defensin copy number and psoriasis in three cohorts of European origin.
The authors identified rhamnolipids in Pseudomonas aeruginosa culture supernatants that are able to prevent the pathogen-induced BD-2 response in keratinocytes.
Title: Pseudomonas aeruginosa-derived rhamnolipids subvert the host innate immune response through manipulation of the human beta-defensin-2 expression.
a highly size-specific, TLR4-dependent, innate defense response to fragmented HA contributes to intestinal epithelium barrier defense through the induction of intracellular HbetaD2 protein.
Title: Specific-sized hyaluronan fragments promote expression of human β-defensin 2 in intestinal epithelium.
Andrographolide (1.0-10 micromol/L) can upregulate the expression of hBD-2 in a dose-dependent manner.
Title: Andrographolide exerted its antimicrobial effects by upregulation of human β-defensin-2 induced through p38 MAPK and NF-κB pathway in human lung epithelial cells.
There was a higher frequency of a lower copy number of the DEFB4 gene in patients with ischemic stroke as compared with healthy controls
Title: Genetic polymorphisms of human β-defensins in patients with ischemic stroke.

Submit: New GeneRIF Correction See all (154)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

HIV-1 protein interactions

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Protein	Gene	Interaction	Pubs
Tat, p14	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 Protein Interaction Database

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
O15263	P51684	CCR6	HPRD	PubMed
O15263	O15263	DEFB4A	HPRD	PubMed
O15263	O00206	TLR4	HPRD	PubMed
BioGRID:108037	BioGRID:108037	DEFB4A	BioGRID	PubMed	Co-crystal Structure

Pathways from BioSystems

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Beta defensins, organism-specific biosystem (from REACTOME)
Beta defensins, organism-specific biosystemHumans have 38 beta-defensin genes plus 9-10 pseudogenes (details available on the HGNC website at http://www.genenames.org/genefamilies/DEFB). Many beta-defensins are encoded by recently duplicated ...
Defensins, organism-specific biosystem (from REACTOME)
Defensins, organism-specific biosystemThe defensins are a family of antimicrobial cationic peptide molecules which in mammals have a characteristic beta-sheet-rich fold and framework of six disulphide-linked cysteines (Selsted & Ouellet...
Immune System, organism-specific biosystem (from REACTOME)
Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
Innate Immune System, organism-specific biosystem (from REACTOME)
Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483122

NoName (e-PCR)
- UniSTS:481406

Homology

OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
G-protein coupled receptor signaling pathway	TAS Traceable Author Statement more info	PubMed
chemotaxis	TAS Traceable Author Statement more info	PubMed
defense response to bacterium	IEA Inferred from Electronic Annotation more info
immune response	TAS Traceable Author Statement more info	PubMed
innate immune response	TAS Traceable Author Statement more info

Component	Evidence Code	Pubs
Golgi lumen	TAS Traceable Author Statement more info
extracellular region	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-defensin 4A

Names: 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.

Genomic

NG_023301.1 RefSeqGene

Range

5001..7039

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004942.2 → NP_004933.1 beta-defensin 4A precursor

Status: REVIEWED

Source sequence(s)

AJ000152

Consensus CDS

CCDS5971.1

UniProtKB/Swiss-Prot

O15263

Related

ENSP00000303532, OTTHUMP00000159651, ENST00000302247, OTTHUMT00000251446

Conserved Domains (1) summary

pfam00711
Location:28 – 62
Blast Score: 99

Defensin_beta; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

Reference GRCh37.p10 Primary Assembly

Genomic

NC_000008.10 Reference GRCh37.p10 Primary Assembly

Range

7752199..7754237

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

NW_001841719.1 Alternate HuRef

Range

658..907

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.0

Genomic

NC_018919.1 Alternate CHM1_1.0

Range

7977620..7979658

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GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	ABBA01156881.1 (658..907)	None
genomic	AC130365.5 (107370..109408)	None
genomic	AF040153.1	AAC33549.1
genomic	AF071216.1	AAC69554.1
genomic	AJ000152.1	CAB65126.1
genomic	AMYH01018392.1 (12057..14095)	None
mRNA	BC069285.1	AAH69285.1
mRNA	BC093983.1	AAH93983.1
mRNA	BC093985.1	AAH93985.1
mRNA	Z71389.1	CAA95992.1