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DEFB118 defensin beta 118 [ Homo sapiens (human) ]

Gene ID: 117285, updated on 11-Jun-2021

Summary

Official Symbol
DEFB118provided by HGNC
Official Full Name
defensin beta 118provided by HGNC
Primary source
HGNC:HGNC:16196
See related
Ensembl:ENSG00000131068 MIM:607650
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
ESC42; DEFB-18; ESP13.6; C20orf63
Summary
This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. Expression of this gene is regulated by androgen, and the encoded protein binds to sperm and exhibits antibacterial activity against E. coli. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. [provided by RefSeq, Nov 2014]
Orthologs
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Genomic context

See DEFB118 in Genome Data Viewer
Location:
20q11.21
Exon count:
2
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (31368601..31373923)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (29956404..29961726)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 480 Neighboring gene defensin beta 117 (pseudogene) Neighboring gene defensin beta 119 Neighboring gene defensin beta 121

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 118
Names
defensin, beta 18
epididymal secretory protein 13.6
epididymis secretory sperm binding protein
epididymus specific clone 42

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_054112.3NP_473453.1  beta-defensin 118 precursor

    See identical proteins and their annotated locations for NP_473453.1

    Status: REVIEWED

    Source sequence(s)
    AF347073, AL031650, BC035677
    Consensus CDS
    CCDS13177.1
    UniProtKB/Swiss-Prot
    Q96PH6
    Related
    ENSP00000253381.2, ENST00000253381.3
    Conserved Domains (1) summary
    pfam13841
    Location:2655
    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
    31368601..31373923
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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