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DEFB123 defensin beta 123 [ Homo sapiens (human) ]

Gene ID: 245936, updated on 5-Aug-2022

Summary

Official Symbol
DEFB123provided by HGNC
Official Full Name
defensin beta 123provided by HGNC
Primary source
HGNC:HGNC:18103
See related
Ensembl:ENSG00000180424 MIM:616076; AllianceGenome:HGNC:18103
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
DEFB23; DEFB-23; ESC42-RELD
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. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]
Expression
Restricted expression toward testis (RPKM 33.5) See more
Orthologs
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Genomic context

See DEFB123 in Genome Data Viewer
Location:
20q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (31440632..31450257)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (33164768..33174395)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (30028435..30038060)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 121 Neighboring gene defensin beta 122 (pseudogene) Neighboring gene defensin beta 124 Neighboring gene RRAD and GEM like GTPase 1

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

Markers

Homology

Gene Ontology Provided by GOA

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

General protein information

Preferred Names
beta-defensin 123
Names
beta defensin 23
specific to testis and epididymis

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_153324.4NP_697019.1  beta-defensin 123 precursor

    See identical proteins and their annotated locations for NP_697019.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the protein-coding transcript.
    Source sequence(s)
    BX088805
    Consensus CDS
    CCDS13180.1
    UniProtKB/Swiss-Prot
    Q5J5C7, Q8N688
    Related
    ENSP00000365486.3, ENST00000376309.4
    Conserved Domains (1) summary
    pfam13841
    Location:2453
    Defensin_beta_2; Beta defensin

RNA

  1. NR_126450.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate splice junction in the 3' end compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
    Source sequence(s)
    AL121751, AY501002, BX088805

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    31440632..31450257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    33164768..33174395
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)