U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

DEFB109B defensin beta 109B [ Homo sapiens (human) ]

Gene ID: 641517, updated on 5-Mar-2024

Summary

Go to the top of the page Help
Official Symbol
DEFB109Bprovided by HGNC
Official Full Name
defensin beta 109Bprovided by HGNC
Primary source
HGNC:HGNC:33469
See related
Ensembl:ENSG00000206034 AllianceGenome:HGNC:33469
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HBD9; DEFB109; DEF109P1B; DEFB109P1B
Summary
Predicted to enable CCR6 chemokine receptor binding activity and chemoattractant activity. Predicted to be involved in cell chemotaxis and defense response to bacterium. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
Location:
8p23.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7309535..7320096)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7038512..7049075)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7167057..7177618)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901877 Neighboring gene family with sequence similarity 90 member A5 Neighboring gene family with sequence similarity 90 member A20 Neighboring gene family with sequence similarity 66 member B Neighboring gene ubiquitin specific peptidase 17 like family member 1 Neighboring gene ubiquitin specific peptidase 17 like family member 4

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. In vitro studies on the antimicrobial peptide human beta-defensin 9 (HBD9): signalling pathways and pathogen-related response (an American Ophthalmological Society thesis). Dua HS, et al. Trans Am Ophthalmol Soc, 2014 Jul. PMID 25646028, Free PMC Article
  2. Cigarette smoke extract induces differential expression levels of beta-defensin peptides in human alveolar epithelial cells. Pierson T, et al. Tob Induc Dis, 2013 Apr 29. PMID 23627872, Free PMC Article
  3. Inducible expression of beta defensins by human respiratory epithelial cells exposed to Aspergillus fumigatus organisms. Alekseeva L, et al. BMC Microbiol, 2009 Feb 11. PMID 19208266, Free PMC Article
  4. A novel antimicrobial peptide on the ocular surface shows decreased expression in inflammation and infection. Abedin A, et al. Invest Ophthalmol Vis Sci, 2008 Jan. PMID 18172071
  5. Localization and gene expression of human beta-defensin 9 at the human ocular surface epithelium. Mohammed I, et al. Invest Ophthalmol Vis Sci, 2010 Sep. PMID 20375350

See all (11) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

Go to the top of the page Help

Review eQTL and phenotype association data in this region using PheGenI

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CCR6 chemokine receptor binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chemoattractant activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell chemotaxis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive chemotaxis IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
is_active_in extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

Go to the top of the page Help
Preferred Names
putative beta-defensin 109B
Names
defensin beta 109 pseudogene 1B
defensin, beta 9 pseudogene

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001037380.2 → NP_001032457.1  putative beta-defensin 109B precursor

    Status: VALIDATED

    Source sequence(s)
    AF228730
    UniProtKB/Swiss-Prot
    Q30KR1
    Related
    ENSP00000516541.1, ENST00000382656.2

RNA

  1. NR_172880.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AF228730

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

    Range
    7309535..7320096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

  1. NT_187570.1 Reference GRCh38.p14 ALT_REF_LOCI_1

    Range
    665..11247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7038512..7049075
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_055544.1: Suppressed sequence

    Description
    NG_055544.1: This RefSeq was removed because it is now thought that this locus encodes a protein.

  2. NR_003668.2: Suppressed sequence

    Description
    NR_003668.2: This RefSeq was removed because there is insufficient evidence that this locus is transcribed.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q30KR1.1 GenPept UniProtKB/Swiss-Prot:Q30KR1

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Miscellaneous