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DEFB106B defensin beta 106B [ Homo sapiens (human) ]

Gene ID: 503841, updated on 5-Mar-2024

Summary

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Official Symbol
DEFB106Bprovided by HGNC
Official Full Name
defensin beta 106Bprovided by HGNC
Primary source
HGNC:HGNC:28879
See related
Ensembl:ENSG00000187082 AllianceGenome:HGNC:28879
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
BD-6; DEFB-6
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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 106, DEFB106A and DEFB106B, in head-to-head orientation. This gene, DEFB106B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
Orthologs
all
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Genomic context

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See DEFB106B in Genome Data Viewer
Location:
8p23.1
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (7482504..7486400, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (7211498..7215418, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (7340026..7343922, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:7304810-7305404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:7305405-7305999 Neighboring gene sperm associated antigen 11B Neighboring gene defensin beta 104B Neighboring gene defensin beta 105B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:7355424-7355932 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:7355933-7356439 Neighboring gene defensin beta 107B Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:7363397-7364330 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr8:7364331-7365262

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Soluble fusion expression, characterization and localization of human β-defensin 6. Xin A, et al. Mol Med Rep, 2014 Jan. PMID 24189797
  2. Structural basis for the interaction of human β-defensin 6 and its putative chemokine receptor CCR2 and breast cancer microvesicles. De Paula VS, et al. J Mol Biol, 2013 Nov 15. PMID 23938203
  3. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Hollox EJ, et al. Am J Hum Genet, 2003 Sep. PMID 12916016, Free PMC Article
  4. Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. Boniotto M, et al. Genet Test, 2004 Fall. PMID 15727258
  5. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. Taudien S, et al. BMC Genomics, 2004 Dec 10. PMID 15588320, Free PMC Article

See all (9) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DEFB106 (also known as DEFB6) displays antimicrobial activity against E. coli, C. albicans and S. aureus.
    Title: Soluble fusion expression, characterization and localization of human β-defensin 6.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables CCR2 chemokine receptor binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables heparin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables lipopolysaccharide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in antifungal innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to Gram-negative bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to Gram-positive bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in innate immune response IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in microvesicle IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
beta-defensin 106
Names
beta-defensin 6
defensin, beta 106

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_001040704.2 → NP_001035794.1  beta-defensin 106 precursor

    See identical proteins and their annotated locations for NP_001035794.1

    Status: REVIEWED

    Source sequence(s)
    AC130360, AC134684
    Consensus CDS
    CCDS34813.1
    UniProtKB/Swiss-Prot
    Q2NKR0, Q496I8, Q8N104
    Related
    ENSP00000334364.2, ENST00000335479.2
    Conserved Domains (1) summary
    pfam13841
    Location:25 → 54
    Defensin_beta_2; Beta defensin

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
    7482504..7486400 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_018654717.1 Reference GRCh38.p14 PATCHES

    Range
    5422413..5426347
    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
    165611..169505 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    7211498..7215418 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N104.1 GenPept UniProtKB/Swiss-Prot:Q8N104

Gene LinkOut

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