DEFB103A defensin beta 103A [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB103Aprovided by HGNC
Official Full Name: defensin beta 103Aprovided by HGNC
Primary source: HGNC:HGNC:15967
See related: Ensembl:ENSG00000176797 AllianceGenome:HGNC:15967
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-3; HBD3; HBP3; DEFB3; HBP-3; DEFB-3; DEFB103
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 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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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 (7881392..7882663)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (12027390..12028661)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7738914..7740185)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

In aged skin the relative paucity of Langerhans cells not only results in diminished immunosurveillance, but could also reduce the epidermal pool of HBD3, potentially contributing to impaired cutaneous immunity to microbes and reduced efficacy of tumor cell lysis.
Title: Langerhans cells express human β-defensin 3: relevance for immunity during skin ageing.
Results from study in human monocytic cell line THP-1 and murine macrophage-like cell line RAW264.7 demonstrate a novel immune defense activity of BD2 and BD3, which promotes clearance of Pseudomonas aeruginosa by inhibiting macrophage autophagy through down-regulation of EGR1 and c-FOS.
Title: Beta-Defensin 2 and 3 Promote Bacterial Clearance of Pseudomonas aeruginosa by Inhibiting Macrophage Autophagy through Downregulation of Early Growth Response Gene-1 and c-FOS.
this study shows that hBD3 amplifies the response to bacterial DNA in both mouse and human immune cells in a TLR9-dependent manner
Title: Human β-defensin 3 increases the TLR9-dependent response to bacterial DNA.
the role of DEFB103 gene copy number variation (CNV) in ankylosing spondylitis (AS) susceptibility, was investigated.
Title: Association between DEFB103 gene copy number variation and ankylosing spondylitis: a case-control study.
It may be concluded hepatitis B virus up-regulates HBD-3 and A3G expression in vivo and in vitro in placental trophoblast and lack of this up-regulation is possibly associated with intrauterine transmission of hepatitis B.
Title: Potential roles of placental human beta-defensin-3 and apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G in prevention of intrauterine transmission of hepatitis B virus.
The encoded peptide displays antimicrobial activity against S. aureus and E. faecium.
Title: Isolation and characterization of human beta -defensin-3, a novel human inducible peptide antibiotic.
these observations suggest that there may be an interracial difference in DEFB4/103A copy numbers between admixed populations and a relationship between DEFB1 single nucleotide polymorphisms and DEFB4/103A copy number variation
Title: Variation in human β-defensin genes: new insights from a multi-population study.
Human beta-defensin 3 peptide is increased and redistributed in Crohn's ileitis
Title: Human β-defensin 3 peptide is increased and redistributed in Crohn's ileitis.
study demonstrates that HBD2 and 3 activate plasmacytoid dendritic cells by enhancing the intracellular uptake of CpG and self DNA and promote DNA-induced IFN-alpha production in a TLR9-dependent manner
Title: β-Defensin 2 and 3 promote the uptake of self or CpG DNA, enhance IFN-α production by human plasmacytoid dendritic cells, and promote inflammation.
Mapping of key residues in the interaction between human Beta-defensin 3 and CXCR4 reveals key defensin motifs involved in protein binding.
Title: Human β-defensin-3 structure motifs that are important in CXCR4 antagonism.

Submit: New GeneRIF Correction See all GeneRIFs (22)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables CCR6 chemokine receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables chemoattractant activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
involved_in cell chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
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 Gram-positive bacterium	IEP Inferred from Expression Pattern 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 killing by host of symbiont cells	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay 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: beta-defensin 103

Names: beta-defensin 3; defensin, beta 103; defensin-like protein

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.