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DEFB129 defensin beta 129 [ Homo sapiens (human) ]

Gene ID: 140881, updated on 11-Jun-2021

Summary

Official Symbol
DEFB129provided by HGNC
Official Full Name
defensin beta 129provided by HGNC
Primary source
HGNC:HGNC:16218
See related
Ensembl:ENSG00000125903
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
DEFB29; hBD-29; DEFB-29; C20orf87; bA530N10.3
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. [provided by RefSeq, Nov 2014]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DEFB129 in Genome Data Viewer
Location:
20p13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (227258..229886)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (207899..210527)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene defensin beta 127 Neighboring gene defensin beta 128 Neighboring gene defensin beta 132 Neighboring gene chromosome 20 open reading frame 96

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

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 defense response to bacterium 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 129
Names
beta-defensin 29
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.

mRNA and Protein(s)

  1. NM_080831.4NP_543021.1  beta-defensin 129 precursor

    See identical proteins and their annotated locations for NP_543021.1

    Status: REVIEWED

    Source sequence(s)
    AF525931, AI217663, BC070359
    Consensus CDS
    CCDS12992.1
    UniProtKB/Swiss-Prot
    Q9H1M3
    Related
    ENSP00000246105.4, ENST00000246105.4
    Conserved Domains (1) summary
    pfam13841
    Location:2654
    Defensin_beta_2; Beta defensin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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
    227258..229886
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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