DEFB4B defensin beta 4B [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB4Bprovided by HGNC
Official Full Name: defensin beta 4Bprovided by HGNC
Primary source: HGNC:HGNC:30193
See related: Ensembl:ENSG00000177257 AllianceGenome:HGNC:30193
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: DEFB4P
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, Oct 2014]
Expression: Biased expression in gall bladder (RPKM 1.0), esophagus (RPKM 0.7) and 3 other tissues 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 (7414855..7416863, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (7143841..7145853, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (7272377..7274385, complement)

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 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 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model.
Title: Human β-Defensin 2 Mutations Are Associated With Asthma and Atopy in Children and Its Application Prevents Atopic Asthma in a Mouse Model.
DEFB4B expression is significantly downregulated in healthy palatal mucosa of smokers
Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
The encoded peptide has antimicrobial activity against E.coli, S. aureus, and P. aeruginosa.
Title: Human beta-defensin 2 is a salt-sensitive peptide antibiotic expressed in human lung.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

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General gene information

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General protein information

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Preferred Names: beta-defensin 4B

Names: beta defensin 2; defensin, beta 4, pseudogene

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.