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DEFB114 defensin beta 114 [ Homo sapiens (human) ]

Gene ID: 245928, updated on 5-Aug-2022

Summary

Official Symbol
DEFB114provided by HGNC
Official Full Name
defensin beta 114provided by HGNC
Primary source
HGNC:HGNC:18095
See related
Ensembl:ENSG00000177684 MIM:615243; AllianceGenome:HGNC:18095
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
DEFB14; DEFB-14
Summary
Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]
Orthologs
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Genomic context

Location:
6p12.3
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (49960249..49964164, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (49803143..49807058, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (49927962..49931877, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene cysteine rich secretory protein 1 Neighboring gene defensin beta 133 (pseudogene) Neighboring gene defensin beta 113 Neighboring gene defensin beta 110

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General protein information

Preferred Names
beta-defensin 114
Names
beta-defensin 14
defensin, beta 14

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_001037499.2NP_001032588.1  beta-defensin 114 precursor

    See identical proteins and their annotated locations for NP_001032588.1

    Status: REVIEWED

    Source sequence(s)
    AL138879
    Consensus CDS
    CCDS34474.1
    UniProtKB/Swiss-Prot
    Q30KQ6, Q8NES9
    Related
    ENSP00000312702.3, ENST00000322066.4

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    49960249..49964164 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    49803143..49807058 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)