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DEFB125 defensin beta 125 [ Homo sapiens (human) ]

Gene ID: 245938, updated on 9-Dec-2024

Summary

Official Symbol
DEFB125provided by HGNC
Official Full Name
defensin beta 125provided by HGNC
Primary source
HGNC:HGNC:18105
See related
Ensembl:ENSG00000178591 AllianceGenome:HGNC:18105
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-25
Summary
Defensins are cysteine-rich cationic polypeptides that are important in the host 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. [provided by RefSeq, Nov 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB125 in Genome Data Viewer
Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (87672..97094)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (130104..139527)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (68313..77735)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:83775-84276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:84277-84776 Neighboring gene NANOG hESC enhancer GRCh37_chr20:126538-127039 Neighboring gene defensin beta 126 Neighboring gene defensin beta 127

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 protein information

Preferred Names
beta-defensin 125
Names
beta defensin 25

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_153325.4NP_697020.2  beta-defensin 125 preproprotein

    See identical proteins and their annotated locations for NP_697020.2

    Status: REVIEWED

    Source sequence(s)
    AK311802, AL360078, BC128196
    Consensus CDS
    CCDS12989.2
    UniProtKB/Swiss-Prot
    A1A502, Q7Z7B9, Q8N687
    Related
    ENSP00000371847.2, ENST00000382410.3
    Conserved Domains (1) summary
    pfam13841
    Location:2656
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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
    87672..97094
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    130104..139527
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)