DEFB106B Gene (Protein Coding)

Defensin Beta 106B

GC08M007482
GIFtS:
25
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 t... See more...

Aliases for DEFB106B Gene

Aliases for DEFB106B Gene

  • Defensin Beta 106B 2 3 5
  • Defensin, Beta 106 3 4
  • Beta-Defensin 106 3 4
  • Beta-Defensin 6 3 4
  • DEFB-6 3 4
  • BD-6 3 4
  • Defensin, Beta 106B 2
  • DEFB106B 5
  • DEFB106 4
  • DEFB6 4
  • BD6 4

External Ids for DEFB106B Gene

Previous GeneCards Identifiers for DEFB106B Gene

  • GC08U900536
  • GC08M007329
  • GC08M007340

Summaries for DEFB106B Gene

Entrez Gene Summary for DEFB106B Gene

  • 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]

GeneCards Summary for DEFB106B Gene

DEFB106B (Defensin Beta 106B) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB106A.

UniProtKB/Swiss-Prot Summary for DEFB106B Gene

  • Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203).

Additional gene information for DEFB106B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB106B Gene

Genomics for DEFB106B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DEFB106B Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J007487 Promoter 0.3 EPDnew 600.7 -1.3 -1260 0.1 DEFB105B DEFB106B
GH08J007481 Promoter 0.3 EPDnew 0.4 +5.1 5076 0.1 lnc-DEFB104B-1 DEFB104B DEFB106B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB106B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB106B

Top Transcription factor binding sites by QIAGEN in the DEFB106B gene promoter:
  • AREB6
  • Cart-1
  • Chx10
  • CUTL1
  • HSF1 (long)
  • HSF1short
  • Pbx1a
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for DEFB106B Gene

Genomic Locations for DEFB106B Gene
chr8:7,482,504-7,486,400
(GRCh38/hg38)
Size:
3,897 bases
Orientation:
Minus strand
chr8:7,340,026-7,343,922
(GRCh37/hg19)
Size:
3,897 bases
Orientation:
Minus strand

Genomic View for DEFB106B Gene

Genes around DEFB106B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB106B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB106B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DEFB106B Gene

Proteins for DEFB106B Gene

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  • Protein details for DEFB106B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N104-D106A_HUMAN
    Recommended name:
    Beta-defensin 106
    Protein Accession:
    Q8N104
    Secondary Accessions:
    • Q2NKR0
    • Q496I8

    Protein attributes for DEFB106B Gene

    Size:
    65 amino acids
    Molecular mass:
    7369 Da
    Quaternary structure:
    • Monomer (PubMed:23938203). Interacts with CCR2 (via extracellular N-terminal region); this interaction may preferentially require specific tyrosine sulfation on CCR2 (PubMed:23938203).

    Three dimensional structures from OCA and Proteopedia for DEFB106B Gene

neXtProt entry for DEFB106B Gene

Post-translational modifications for DEFB106B Gene

No Post-translational modifications

Other Protein References for DEFB106B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB106B Gene

Domains & Families for DEFB106B Gene

Gene Families for DEFB106B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB106B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB106B Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 106 (D106A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N104

UniProtKB/Swiss-Prot:

D106A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB106B: view

Function for DEFB106B Gene

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Molecular function for DEFB106B Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity (PubMed:12600824). Acts as a ligand for C-C chemokine receptor CCR2 (PubMed:23938203).

Gene Ontology (GO) - Molecular Function for DEFB106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001530 lipopolysaccharide binding IDA 24189797
GO:0005515 protein binding IPI 23938203
GO:0008201 heparin binding IDA 24189797
GO:0031727 CCR2 chemokine receptor binding IDA 23938203
genes like me logo Genes that share ontologies with DEFB106B: view

Phenotypes for DEFB106B Gene

GenomeRNAi human phenotypes for DEFB106B:
genes like me logo Genes that share phenotypes with DEFB106B: view

Animal Model Products

CRISPR Products

miRNA for DEFB106B Gene

miRTarBase miRNAs that target DEFB106B

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB106B

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB106B Gene

Localization for DEFB106B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB106B Gene

Secreted. Membrane. Note=Associates with tumor cell membrane-derived microvesicles (PubMed:23938203). {ECO:0000269 PubMed:23938203}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DEFB106B gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 1
cytoskeleton 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for DEFB106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005634 nucleus IDA 24189797
GO:0016020 membrane IEA --
GO:0019898 extrinsic component of membrane IDA 23938203
GO:1990742 microvesicle IDA 23938203
genes like me logo Genes that share ontologies with DEFB106B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB106B Gene

Pathways & Interactions for DEFB106B Gene

PathCards logo

SuperPathways for DEFB106B Gene

genes like me logo Genes that share pathways with DEFB106B: view

Pathways by source for DEFB106B Gene

Interacting Proteins for DEFB106B Gene

STRING Interaction Network Preview (showing top 1 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: ENSP00000334364 Q8N104-D106A_HUMAN for DEFB106B Gene via STRING IID

GPS-Prot Interaction Network for DEFB106B

Gene Ontology (GO) - Biological Process for DEFB106B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response IDA 24189797
GO:0050829 defense response to Gram-negative bacterium IDA 24189797
GO:0050830 defense response to Gram-positive bacterium IDA 24189797
genes like me logo Genes that share ontologies with DEFB106B: view

No data available for SIGNOR curated interactions for DEFB106B Gene

Drugs & Compounds for DEFB106B Gene

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No Compound Related Data Available

Transcripts for DEFB106B Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for DEFB106B Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB106B

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB106B Gene

No ASD Table

Relevant External Links for DEFB106B Gene

GeneLoc Exon Structure for
DEFB106B

Expression for DEFB106B Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB106B Gene

mRNA expression in normal human tissues for DEFB106B Gene
mRNA expression by GTEx for DEFB106B Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB106B

SOURCE GeneReport for Unigene cluster for DEFB106B Gene:

Hs.511958

mRNA Expression by UniProt/SwissProt for DEFB106B Gene:

Q8N104-D106A_HUMAN
Tissue specificity: Expressed specifically in epididymis and lung.

Evidence on tissue expression from TISSUES for DEFB106B Gene

  • Lung(4.2)
genes like me logo Genes that share expression patterns with DEFB106B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB106B Gene

Orthologs for DEFB106B Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB106B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DEFB106A 31
  • 100 (a)
 OneToMany
Mouse
(Mus musculus)
 Mammalia Defb34 31
  • 47 (a)
 ManyToMany
Species where no ortholog for DEFB106B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DEFB106B Gene

ENSEMBL:
Gene Tree for DEFB106B (if available)
TreeFam:
Gene Tree for DEFB106B (if available)

Paralogs for DEFB106B Gene

Paralogs for DEFB106B Gene

(7) SIMAP similar genes for DEFB106B Gene using alignment to 1 proteins:

  • D106A_HUMAN
genes like me logo Genes that share paralogs with DEFB106B: view

Variants for DEFB106B Gene

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Additional dbSNP identifiers (rs#s) for DEFB106B Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB106B Gene

Variant ID Type Subtype PubMed ID
dgv1170n67 CNV loss 20364138
dgv11911n54 CNV loss 21841781
dgv11912n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11915n54 CNV loss 21841781
dgv11916n54 CNV loss 21841781
dgv11917n54 CNV gain 21841781
dgv11918n54 CNV loss 21841781
dgv11919n54 CNV loss 21841781
dgv11920n54 CNV loss 21841781
dgv11921n54 CNV loss 21841781
dgv11922n54 CNV loss 21841781
dgv11928n54 CNV gain 21841781
dgv11929n54 CNV loss 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv11932n54 CNV loss 21841781
dgv11933n54 CNV loss 21841781
dgv11934n54 CNV loss 21841781
dgv2035e212 CNV gain 25503493
dgv25n31 CNV gain 19718026
dgv26n31 CNV gain 19718026
dgv31n14 CNV loss 18776910
dgv6882n100 CNV gain 25217958
dgv6885n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6893n100 CNV gain 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6898n100 CNV loss 25217958
dgv6905n100 CNV gain 25217958
dgv6906n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6908n100 CNV gain 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6921n100 CNV loss 25217958
dgv6922n100 CNV gain+loss 25217958
dgv6923n100 CNV gain+loss 25217958
dgv6924n100 CNV loss 25217958
dgv6925n100 CNV gain 25217958
dgv6926n100 CNV loss 25217958
dgv6927n100 CNV gain+loss 25217958
dgv6928n100 CNV gain 25217958
dgv6929n100 CNV loss 25217958
dgv6930n100 CNV gain+loss 25217958
dgv6931n100 CNV gain+loss 25217958
dgv6932n100 CNV gain+loss 25217958
dgv6933n100 CNV loss 25217958
dgv6934n100 CNV gain+loss 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6937n100 CNV loss 25217958
dgv6938n100 CNV loss 25217958
dgv6939n100 CNV gain 25217958
dgv6940n100 CNV loss 25217958
dgv6941n100 CNV gain+loss 25217958
dgv6942n100 CNV loss 25217958
dgv6943n100 CNV gain 25217958
dgv6944n100 CNV gain 25217958
dgv6945n100 CNV loss 25217958
dgv6946n100 CNV gain 25217958
dgv6947n100 CNV gain+loss 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6959n100 CNV loss 25217958
dgv6960n100 CNV loss 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
esv21583 CNV gain+loss 19812545
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv33606 CNV gain+loss 17666407
esv3584574 CNV gain 24956385
esv3584575 CNV gain 24956385
esv3584577 CNV gain 24956385
esv3616114 CNV loss 21293372
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891323 CNV gain+loss 25118596
esv3891325 CNV gain 25118596
esv992071 CNV gain 20482838
esv996398 CNV gain 20482838
nsv1015218 CNV gain 25217958
nsv1026778 CNV gain 25217958
nsv1027507 CNV loss 25217958
nsv1027709 CNV gain+loss 25217958
nsv1029830 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031322 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1031948 CNV gain+loss 25217958
nsv1077513 CNV duplication 25765185
nsv1141572 CNV duplication 24896259
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv469521 CNV gain+loss 16826518
nsv471650 CNV gain+loss 15918152
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515100 CNV gain 21397061
nsv515968 CNV gain+loss 19592680
nsv610044 CNV gain 21841781
nsv610065 CNV gain+loss 21841781
nsv610077 CNV gain 21841781
nsv610102 CNV gain+loss 21841781
nsv610113 CNV loss 21841781
nsv821656 CNV gain 15273396
nsv824519 CNV loss 20364138
nsv824521 CNV gain 20364138
nsv824524 CNV gain+loss 20364138
nsv8281 CNV gain+loss 18304495
nsv951092 CNV deletion 24416366
nsv951093 CNV deletion 24416366
nsv967555 CNV duplication 23825009
nsv967558 CNV duplication 23825009

Variation tolerance for DEFB106B Gene

Residual Variation Intolerance Score: 64.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.00; 0.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB106B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB106B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB106B Gene

Disorders for DEFB106B Gene

Additional Disease Information for DEFB106B

ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DEFB106B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB106B Gene

Publications for DEFB106B Gene

  1. Structural basis for the interaction of human β-defensin 6 and its putative chemokine receptor CCR2 and breast cancer microvesicles. (PMID: 23938203) De Paula VS … Valente AP (Journal of molecular biology 2013) 3 4
  2. Duplication and selection in the evolution of primate beta-defensin genes. (PMID: 12734011) Semple CA … Dorin JR (Genome biology 2003) 3 4
  3. Discovery of five conserved beta -defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte BC … McCray PB (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4
  4. Identification of multiple novel epididymis-specific beta-defensin isoforms in humans and mice. (PMID: 12193721) Yamaguchi Y … Ouchi Y (Journal of immunology (Baltimore, Md. : 1950) 2002) 3 4
  5. Soluble fusion expression, characterization and localization of human β-defensin 6. (PMID: 24189797) Xin A … Zhang Y (Molecular medicine reports 2014) 3

ExternalLinks

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