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 DEFB107B Gene

Aliases for DEFB107B Gene

  • Defensin Beta 107B 2 3 5
  • Defensin, Beta 107 3 4
  • Beta-Defensin 107 3 4
  • Beta-Defensin 7 3 4
  • HsT21816 2 3
  • Defensin, Beta 107B 2
  • DEFB107B 5
  • DEFB107 4
  • DEFB-7 4
  • DEFB7 4
  • BD-7 4

External Ids for DEFB107B Gene

Previous GeneCards Identifiers for DEFB107B Gene

  • GC08U900555
  • GC08P007342
  • GC08P007355
  • GC08P007365
  • GC08P007367

Summaries for DEFB107B Gene

Entrez Gene Summary for DEFB107B 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 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB107B Gene

DEFB107B (Defensin Beta 107B) is a Protein Coding gene. Diseases associated with DEFB107B include Cyclothymic Disorder. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB107A.

UniProtKB/Swiss-Prot Summary for DEFB107B Gene

Additional gene information for DEFB107B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB107B Gene

Genomics for DEFB107B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB107B 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
GH08J007495 Promoter 0.3 EPDnew 600.7 0.0 -16 0.1 DEFB107B DEFB105B
GH08J007497 Enhancer 0.2 Ensembl 0.7 +2.5 2465 0.9 piR-40154-184 piR-40163-106 piR-52261-260 piR-53431-631 DEFB107B piR-32861-074 PRR23D1
GH08J007507 Enhancer 0.2 Ensembl 0.4 +13.8 13790 1.4 piR-53431-632 DEFB107B LOC105377801 PRR23D1
GH08J007532 Enhancer 0.2 Ensembl 0.3 +38.9 38890 0.8 PRR23D1 LOC101927997 DEFB107B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB107B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB107B

Top Transcription factor binding sites by QIAGEN in the DEFB107B gene promoter:
  • AREB6
  • Cart-1
  • CUTL1
  • HSF1 (long)
  • HSF1short
  • Pax-4a
  • Pbx1a
  • POU2F1
  • POU2F1a
  • S8

Genomic Locations for DEFB107B Gene

Genomic Locations for DEFB107B Gene
chr8:7,495,911-7,509,311
(GRCh38/hg38)
Size:
13,401 bases
Orientation:
Plus strand
chr8:7,353,368-7,366,833
(GRCh37/hg19)
Size:
13,466 bases
Orientation:
Plus strand

Genomic View for DEFB107B Gene

Genes around DEFB107B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB107B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB107B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB107B Gene

Proteins for DEFB107B Gene

  • Protein details for DEFB107B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZN7-D107A_HUMAN
    Recommended name:
    Beta-defensin 107
    Protein Accession:
    Q8IZN7
    Secondary Accessions:
    • B2RPM1
    • Q30E75
    • Q8NET2

    Protein attributes for DEFB107B Gene

    Size:
    70 amino acids
    Molecular mass:
    7846 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAZ81951.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DEFB107B Gene

Post-translational modifications for DEFB107B Gene

No Post-translational modifications

Other Protein References for DEFB107B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB107B Gene

Domains & Families for DEFB107B Gene

Gene Families for DEFB107B Gene

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

Protein Domains for DEFB107B Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB107B Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 107 (D107A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IZN7

UniProtKB/Swiss-Prot:

D107A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB107B: view

Function for DEFB107B Gene

Molecular function for DEFB107B Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Gene Ontology (GO) - Molecular Function for DEFB107B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008289 lipid binding IMP --
genes like me logo Genes that share ontologies with DEFB107B: view

Phenotypes for DEFB107B Gene

GenomeRNAi human phenotypes for DEFB107B:
genes like me logo Genes that share phenotypes with DEFB107B: view

miRNA for DEFB107B Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB107B Gene

Localization for DEFB107B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB107B Gene

Secreted.

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 DEFB107B gene
Compartment Confidence
extracellular 5
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DEFB107B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB107B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB107B Gene

Pathways & Interactions for DEFB107B Gene

PathCards logo

SuperPathways for DEFB107B Gene

genes like me logo Genes that share pathways with DEFB107B: view

Pathways by source for DEFB107B Gene

Interacting Proteins for DEFB107B Gene

Selected Interacting proteins: Q8IZN7-D107A_HUMAN for DEFB107B Gene via IID

Symbol External ID(s) Details
DEFB124

Gene Ontology (GO) - Biological Process for DEFB107B 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 IEA --
GO:0050829 NOT defense response to Gram-negative bacterium IMP --
GO:0050830 NOT defense response to Gram-positive bacterium IMP --
genes like me logo Genes that share ontologies with DEFB107B: view

No data available for SIGNOR curated interactions for DEFB107B Gene

Drugs & Compounds for DEFB107B Gene

No Compound Related Data Available

Transcripts for DEFB107B Gene

mRNA/cDNA for DEFB107B Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB107B Gene

No ASD Table

Relevant External Links for DEFB107B Gene

GeneLoc Exon Structure for
DEFB107B

Expression for DEFB107B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB107B Gene

SOURCE GeneReport for Unigene cluster for DEFB107B Gene:

Hs.520874

mRNA Expression by UniProt/SwissProt for DEFB107B Gene:

Q8IZN7-D107A_HUMAN
Tissue specificity: Specifically expressed in testis.
genes like me logo Genes that share expression patterns with DEFB107B: 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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB107B Gene

Orthologs for DEFB107B Gene

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

Orthologs for DEFB107B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB107A 31
  • 96 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Defb13 31
  • 50 (a)
OneToMany
Species where no ortholog for DEFB107B 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 DEFB107B Gene

ENSEMBL:
Gene Tree for DEFB107B (if available)
TreeFam:
Gene Tree for DEFB107B (if available)

Paralogs for DEFB107B Gene

Paralogs for DEFB107B Gene

genes like me logo Genes that share paralogs with DEFB107B: view

Variants for DEFB107B Gene

Additional dbSNP identifiers (rs#s) for DEFB107B Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB107B 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
dgv11921n54 CNV loss 21841781
dgv11922n54 CNV loss 21841781
dgv11923n54 CNV loss 21841781
dgv11924n54 CNV gain 21841781
dgv11925n54 CNV loss 21841781
dgv11928n54 CNV gain 21841781
dgv11929n54 CNV loss 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 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
dgv6894n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6898n100 CNV loss 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
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
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
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
esv3616120 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
nsv1026778 CNV gain 25217958
nsv1029830 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031322 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1031948 CNV gain+loss 25217958
nsv1075518 CNV deletion 25765185
nsv1112953 CNV deletion 24896259
nsv1133683 CNV deletion 24896259
nsv1140256 OTHER inversion 24896259
nsv396555 CNV deletion 16902084
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv469521 CNV gain+loss 16826518
nsv471650 CNV gain+loss 15918152
nsv499381 CNV loss 21111241
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515100 CNV gain 21397061
nsv515968 CNV gain+loss 19592680
nsv610065 CNV gain+loss 21841781
nsv610102 CNV gain+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

Variation tolerance for DEFB107B Gene

Gene Damage Index Score: 4.64; 65.65% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB107B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB107B

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 DEFB107B Gene

Disorders for DEFB107B Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFB107B Gene - From: DISEASES

Disorder Aliases PubMed IDs
cyclothymic disorder
  • affective personality disorder
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB107B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DEFB107B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB107B Gene

Publications for DEFB107B Gene

  1. Copy number variation of defensin genes and HIV infection in Brazilian children. (PMID: 19194307) Milanese M … Crovella S (Journal of acquired immune deficiency syndromes (1999) 2009) 3 41
  2. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil AA … Zhang G (Physiological genomics 2005) 3 4
  3. Duplication and selection in the evolution of primate beta-defensin genes. (PMID: 12734011) Semple CA … Dorin JR (Genome biology 2003) 3 4
  4. 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
  5. Copy number variation of the beta defensin gene cluster on chromosome 8p influences the bacterial microbiota within the nasopharynx of otitis-prone children. (PMID: 24867293) Jones EA … Bakaletz LO (PloS one 2014) 3

Products for DEFB107B Gene

Sources for DEFB107B Gene