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DEFB124 defensin beta 124 [ Homo sapiens (human) ]

Gene ID: 245937, updated on 23-Nov-2021

Summary

Official Symbol
DEFB124provided by HGNC
Official Full Name
defensin beta 124provided by HGNC
Primary source
HGNC:HGNC:18104
See related
Ensembl:ENSG00000180383
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
DEFB-24
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein 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 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB124 in Genome Data Viewer
Location:
20q11.21
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31465471..31475127, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30053274..30062930, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 123 Neighboring gene RRAD and GEM like GTPase 1 Neighboring gene long intergenic non-protein coding RNA 28

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular response to peptidoglycan IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
involved_in innate immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of chemokine (C-C motif) ligand 5 production IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in positive regulation of monocyte chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-defensin 124
Names
beta-defensin 24
defensin, beta 24

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)

  1. NM_001037500.2NP_001032589.1  beta-defensin 124 precursor

    See identical proteins and their annotated locations for NP_001032589.1

    Status: REVIEWED

    Source sequence(s)
    AL121751
    Consensus CDS
    CCDS33457.1
    UniProtKB/Swiss-Prot
    Q8NES8
    Related
    ENSP00000326309.2, ENST00000317676.3
    Conserved Domains (1) summary
    pfam13841
    Location:2655
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    31465471..31475127 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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