DEFB103B defensin beta 103B [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB103Bprovided by HGNC
Official Full Name: defensin beta 103Bprovided by HGNC
Primary source: HGNC:HGNC:31702
See related: Ensembl:ENSG00000177243 MIM:606611; AllianceGenome:HGNC:31702
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; HBD-3; 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, which has broad spectrum antimicrobial activity and may play an important role in innate epithelial defense. [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 (7428888..7430348, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7157879..7159340, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7286410..7287870, complement)

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?

Binding free energy calculation of human beta defensin 3 with negatively charged lipid bilayer using free energy perturbation method.
Title: Binding free energy calculation of human beta defensin 3 with negatively charged lipid bilayer using free energy perturbation method.
Human beta defensin 3 knockdown inhibits the proliferation and migration of airway smooth muscle cells through regulating the PI3K/AKT signaling pathway.
Title: Human beta defensin 3 knockdown inhibits the proliferation and migration of airway smooth muscle cells through regulating the PI3K/AKT signaling pathway.
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.
Cervicovaginal levels of human beta defensins during bacterial vaginosis.
Title: Cervicovaginal levels of human beta defensins during bacterial vaginosis.
Human beta defensin levels and vaginal microbiome composition in post-menopausal women diagnosed with lichen sclerosus.
Title: Human beta defensin levels and vaginal microbiome composition in post-menopausal women diagnosed with lichen sclerosus.
Interaction of Human beta Defensin Type 3 (hBD-3) with Different PIP2-Containing Membranes, a Molecular Dynamics Simulation Study.
Title: Interaction of Human β Defensin Type 3 (hBD-3) with Different PIP2-Containing Membranes, a Molecular Dynamics Simulation Study.
Human beta-defensin-3 reduces excessive autophagy in intestinal epithelial cells and in experimental necrotizing enterocolitis.
Title: Human β-defensin-3 reduces excessive autophagy in intestinal epithelial cells and in experimental necrotizing enterocolitis.
These findings demonstrate that human beta-defensin 3 accelerates osteogenesis and that human beta-defensin 3 gene modification may offer a potential approach to promote bone repair in patients with periodontitis.
Title: Human β-defensin 3 gene modification promotes the osteogenic differentiation of human periodontal ligament cells and bone repair in periodontitis.
Enterovirus infection induces hBD3 production in human intestinal epithelial cells and that hBD3 can exert extracellular anti-enterovirus activity.
Title: Induction and antiviral activity of human β-defensin 3 in intestinal cells with picornavirus infection.
The above results show that CHRG01, a small peptides derived from human beta defensin-3 (HBD-3) without any complex structure, is capable of killing bacteria by permeabilizing their outer membranes.
Title: Antibacterial properties of human beta defensin-3 derivative: CHRG01.

Submit: New GeneRIF Correction See all GeneRIFs (127)

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 variants) 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

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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-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.