DEFB104A defensin beta 104A [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB104Aprovided by HGNC
Official Full Name: defensin beta 104Aprovided by HGNC
Primary source: HGNC:HGNC:18115
See related: Ensembl:ENSG00000176782 AllianceGenome:HGNC:18115
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-4; DEFB4; hBD-4; DEFB-4; DEFB104
Summary: Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 104, DEFB104A and DEFB104B, in head-to-head orientation. This gene, DEFB104A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]
Expression: Low expression observed in reference dataset 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 (7836436..7841242)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (11982449..11987259)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7693958..7698764)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Expression of hBD-1, hBD-2, hBD-3, and hBD-4 in healthy and chronic periodontitis gingiva.
Title: The expression of human β-defensins (hBD-1, hBD-2, hBD-3, hBD-4) in gingival epithelia.
there is a significant link between innate immunity deregulation through disruption of cationic peptides (hBDs) and the potential development of colon cancer.
Title: Expression and new exon mutations of the human Beta defensins and their association on colon cancer development.
Beta-defensin 104 displays antimicrobial activity against S. carnosus, E. coli, S. cerevisiae, and P. aeruginosa (strong).
Title: Human beta-defensin 4: a novel inducible peptide with a specific salt-sensitive spectrum of antimicrobial activity.
TFF3 activated the epithelial cells in culture to produce beta defensins 2 (hBD2) and beta defensins 4
Title: Trefoil factor 3 isolated from human breast milk downregulates cytokines (IL8 and IL6) and promotes human beta defensin (hBD2 and hBD4) expression in intestinal epithelial cells HT-29.
Data suggest an activation of b-defensin-4 induction, in human knee meniscus by the osteoarthritis inflammatory process as a result of an endogenous antibiotic defense mechanism accompanied by an intrinsic effort of tissue remodeling.
Title: Expression of β-defensin-4 in "an in vivo and ex vivo model" of human osteoarthritic knee meniscus.
Our results suggest that copy number variation of DEFB4 may not contribute to the pathogenesis of Behcet's disease.
Title: Copy number variation of β-defensin genes in Behçet's disease.
Analysis of the DEFB4 promoter region shows remarkably high density of sequence variabilities.
Title: Both copy number and sequence variations affect expression of human DEFB4.
The variations in the genes encoding human beta-defensin-1 and -2 may be associated with the risk of severe acute pancreatitis.
Title: Polymorphisms of beta defensins are associated with the risk of severe acute pancreatitis.
Data show that beta-defensin cluster (DEFB4, DEFB103 and DEFB104) varied between 2 and 9 copies per genome, and high copy numbers (>4) were underrepresented among patients, suggesting that increased copy numbers could protect from CD.
Title: Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease.
We report here the application of small ubiquitin-related modifier (SUMO) fusion technology to the expression and purification of cationic antibacterial peptide hBD4.
Title: Production of bioactive human beta-defensin-4 in Escherichia coli using SUMO fusion partner.

Submit: New GeneRIF Correction See all GeneRIFs (15)

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 chemoattractant activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to phorbol 13-acetate 12-myristate	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 Gram-positive bacterium	IEP Inferred from Expression Pattern more info	PubMed
involved_in innate immune response	IDA Inferred from Direct Assay more info	PubMed
involved_in monocyte chemotaxis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive chemotaxis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: beta-defensin 104

Names: defensin, beta 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.