DEFB126 defensin beta 126 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB126provided by HGNC
Official Full Name: defensin beta 126provided by HGNC
Primary source: HGNC:HGNC:15900
See related: Ensembl:ENSG00000125788 MIM:620131; AllianceGenome:HGNC:15900
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: HBD26; DEFB26; hBD-26; C20orf8; DEFB-26; bA530N10.1
Summary: Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20p13. The encoded protein is highly similar to an epididymal-specific secretory protein (ESP13.2) from cynomolgus monkey. Mutation of this gene is associated with impaired sperm function. [provided by RefSeq, Nov 2014]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 20p13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (142590..145751)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (185041..188196)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (123231..126392)

Chromosome 20 - NC_000020.11 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
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?

<i>DEFB126</i> polymorphisms and association with idiopathic asthenozoospermia in China.
Title: DEFB126 polymorphisms and association with idiopathic asthenozoospermia in China.
Beta-defensin126 is correlated with sperm motility in fertile and infertile mendagger.
Title: Beta-defensin126 is correlated with sperm motility in fertile and infertile men†.
The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome.
Title: The role of DEFB126 variation in male infertility and medically assisted reproduction technique outcome.
It is a immune component extensively expressed in mucosa and epidermis, which are responsible for the first line of host defense.
Title: Influence of chewing on expression level of human beta-defensin 2 and secretory immunoglobulin A in the epithelium.
Data indicate a significant contribution of the frame-shift polymorphism of defensin beta 126 (DEFB126) rs11467497 to male infertility.
Title: Another functional frame-shift polymorphism of DEFB126 (rs11467497) associated with male infertility.
These results demonstrate that the DEFB126 core peptide has critical functions in parallel to its C-terminal tail by showing LPS-binding activity, anti-inflammatory effects and intracellular regulatory function. In addition, DEFB126 displays antimicrobial activity against E. coli, S. aureus, and C. elegans.
Title: Human beta-defensin DEFB126 is capable of inhibiting LPS-mediated inflammation.
This review shows how DEFB126 is critical for efficient transport of sperm in the female reproductive tract, preventing their recognition by the female immune system.
Title: Multifunctional glycoprotein DEFB126--a curious story of defensin-clad spermatozoa.
DEFB126 genotype and lectin binding were correlated with sperm performance in the penetration assays.
Title: A common mutation in the defensin DEFB126 causes impaired sperm function and subfertility.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Polymorphisms in innate immunity genes and risk of childhood leukemia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Risk of meningioma and common variation in genes related to innate immunity.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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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Markers

NoName (e-PCR)
- UniSTS:486975

RH102814 (e-PCR)
- UniSTS:97148

NoName (e-PCR)
- UniSTS:480495

Gene Ontology Provided by GOA

Process	Evidence Code	Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	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 single fertilization	IEA Inferred from Electronic Annotation more info

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 126

Names: epididymal secretory protein ESP13.2; epididymis secretory sperm binding 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.