DEFB119 defensin beta 119 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFB119provided by HGNC
Official Full Name: defensin beta 119provided by HGNC
Primary source: HGNC:HGNC:18099
See related: Ensembl:ENSG00000180483 MIM:615997; AllianceGenome:HGNC:18099
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: DEFB20; DEFB-19; DEFB-20; DEFB120; ESC42-RELA; ESC42-RELB
Summary: This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]
Expression: Restricted expression toward testis (RPKM 62.1) See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.21

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (31377163..31390649, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (33101347..33114830, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (29964966..29978452, complement)

Chromosome 20 - NC_000020.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

beta-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.
Title: β-Defensin 19/119 mediates sperm chemotaxis and is associated with idiopathic infertility.
A couple of isoforms encoded by this gene are thought to display antimicrobial activity.
Title: Identification, characterization, and evolution of a primate beta-defensin gene cluster.
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.

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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

SHGC-31330 (e-PCR)
- UniSTS:58228

RH66091 (e-PCR)
- UniSTS:89491

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables lipopolysaccharide binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in antifungal innate immune response	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor 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 119

Names: defensin, beta 120; defensin, beta 19; defensin, beta 20

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.

mRNA and Protein(s)

NM_001271209.2 → NP_001258138.1 beta-defensin 119 isoform d precursor

See identical proteins and their annotated locations for NP_001258138.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 3' exon, compared to variant 3. Then encoded isoform (d) is shorter than isoform c. Isoform d is thought to be an antimicrobial peptide.

Source sequence(s)

AF479699, AY122473, HY035342

UniProtKB/TrEMBL

Q5GRG0

Conserved Domains (1) summary

pfam13841
Location:21 → 49

Defensin_beta_2; Beta defensin
NM_153289.4 → NP_695021.2 beta-defensin 119 isoform a precursor

See identical proteins and their annotated locations for NP_695021.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) contains an alternate 3' exon, compared to variant 3 resulting in a different 3' coding region and 3' UTR. The encoded isoform (a) is shorter and has a distinct C-terminus, compared to isoform c.

Source sequence(s)

AL121751, AY122472, BU561156, HY035342

Consensus CDS

CCDS13178.1

UniProtKB/Swiss-Prot

Q5GRG1, Q5JWP1, Q5TH42, Q8N689, Q8N690

Related

ENSP00000365499.3, ENST00000376321.4

Conserved Domains (1) summary

pfam14862
Location:14 → 50

Defensin_big; Big defensin
NM_153323.5 → NP_697018.1 beta-defensin 119 isoform c precursor

See identical proteins and their annotated locations for NP_697018.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) encodes the longest isoform (c). Isoform c is thought to be an antimicrobial peptide.

Source sequence(s)

AY122473, BC062212

Consensus CDS

CCDS33455.1

UniProtKB/Swiss-Prot

Q8N690

Related

ENSP00000365492.2, ENST00000376315.2

Conserved Domains (1) summary

pfam13841
Location:22 → 50

Defensin_beta_2; Beta defensin

RNA

NR_073151.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (5) contains an alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because it lacks most of the in-frame ORF, compared to variant 3.

Source sequence(s)

AL031650, AL121751, AL732301, BU561156, HY035342

Related

ENST00000492344.1
NR_073152.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

BU561156, HY035342
NR_073153.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AY501001, BU561156, HY035342

Related

ENST00000339144.3
NR_126440.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (7) contains an alternate 3' exon structure, compared to variant 3. This variant is represented as non-coding because it lacks most of the in-frame ORF, compared to variant 3.

Source sequence(s)

AW003815, BU561156, HY035342