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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 DEFB105B Gene
Aliases for DEFB105B Gene
External Ids for DEFB105B Gene
- HGNC: 29930
- Entrez Gene: 504180
- Ensembl: ENSG00000186599
- UniProtKB: Q8NG35
Previous GeneCards Identifiers for DEFB105B Gene
- GC08U900546
- GC08P007334
Summaries for DEFB105B 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 105, DEFB105A and DEFB105B, in tail-to-tail orientation. This gene, DEFB105B, represents the more telomeric copy. [provided by RefSeq, Oct 2014]
GeneCards Summary for DEFB105B Gene
DEFB105B (Defensin Beta 105B) is a Protein Coding gene. Diseases associated with DEFB105B include Cardiomyopathy, Familial Hypertrophic, 12 and Osteopetrosis, Autosomal Recessive 2. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB105A.
UniProtKB/Swiss-Prot Summary for DEFB105B Gene
-
Has antibacterial activity.
Additional gene information for DEFB105B Gene
- HGNC(29930)
- Entrez Gene(504180)
- Ensembl(ENSG00000186599)
- UniProtKB(Q8NG35)
- Open Targets Platform(ENSG00000186599)
- Search for DEFB105B at DataMed
- Search for DEFB105B at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB105B Gene
Genomics for DEFB105B Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DEFB105B 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 | 0.0 | -19 | 0.1 | DEFB105B DEFB106B | ||
| GH08J007495 | Promoter | 0.3 | EPDnew | 0.4 | +8.2 | 8216 | 0.1 | DEFB107B DEFB105B |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DEFB105B on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB105B
- Top Transcription factor binding sites by QIAGEN in the DEFB105B gene promoter:
-
- AREB6
- C/EBPbeta
- Cart-1
- CUTL1
- HSF1 (long)
- HSF1short
- Pbx1a
- POU2F1
- POU2F1a
- S8
Genomic Locations for DEFB105B Gene
Genomic Locations for DEFB105B Gene
- chr8:7,487,679-7,489,593
- (GRCh38/hg38)
- Size:
- 1,915 bases
- Orientation:
- Plus strand
- chr8:7,345,191-7,347,115
- (GRCh37/hg19)
- Size:
- 1,925 bases
- Orientation:
- Plus strand
Genomic View for DEFB105B Gene
Genes around DEFB105B on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by HGNC
- 8p23.1 by Entrez Gene
- 8p23.1 by Ensembl
DEFB105B Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DEFB105B Gene
Proteins for DEFB105B Gene
-
Protein details for DEFB105B Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q8NG35-D105A_HUMAN
- Recommended name:
- Beta-defensin 105
- Protein Accession:
- Q8NG35
- A1A581
- Q8IZN8
Protein attributes for DEFB105B Gene
- Size:
- 78 amino acids
- Molecular mass:
- 8923 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for DEFB105B Gene
No Post-translational modifications
Other Protein References for DEFB105B Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
Protein Products
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Assay Products
- antibodies-online: Show 3 available DEFB105B Elisa Kits ranked by validation data
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-
Quality Products:
No data available for DME Specific Peptides for DEFB105B Gene
Domains & Families for DEFB105B Gene
Gene Families for DEFB105B Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted secreted proteins
Protein Domains for DEFB105B Gene
- InterPro:
- Blocks:
-
- Beta defensin
- ProtoNet:
Suggested Antigen Peptide Sequences for DEFB105B Gene
- GenScript: Design optimal peptide antigens:
-
- Defensin, beta 105B (B2RU30_HUMAN)
- Defensin, beta 105 (D105A_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q8NG35- Family:
-
- Belongs to the beta-defensin family.
Function for DEFB105B Gene
Molecular function for DEFB105B Gene
- UniProtKB/Swiss-Prot Function:
- Has antibacterial activity.
Phenotypes for DEFB105B Gene
- GenomeRNAi human phenotypes for DEFB105B:
Animal Model Products
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CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DEFB105B - Select products 50% OFF >
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-
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miRNA for DEFB105B Gene
- miRTarBase miRNAs that target DEFB105B
-
- hsa-miR-7850-5p (MIRT619811)
- hsa-miR-6515-5p (MIRT619812)
- hsa-miR-4443 (MIRT619813)
- hsa-miR-7977 (MIRT619814)
- hsa-miR-650 (MIRT619815)
- hsa-miR-3612 (MIRT619816)
- hsa-miR-6847-3p (MIRT619817)
- hsa-miR-383-3p (MIRT619818)
- hsa-miR-7703 (MIRT637458)
- hsa-miR-6864-3p (MIRT637459)
- hsa-miR-3672 (MIRT637460)
- hsa-miR-514b-5p (MIRT637461)
- hsa-miR-513c-5p (MIRT637462)
- hsa-miR-6868-3p (MIRT637463)
- hsa-miR-6720-5p (MIRT637464)
- hsa-miR-6512-3p (MIRT637465)
- hsa-miR-6729-5p (MIRT637466)
- hsa-miR-4649-5p (MIRT637467)
- hsa-miR-1273a (MIRT637468)
- hsa-miR-661 (MIRT637469)
- hsa-miR-4252 (MIRT637470)
- hsa-miR-873-3p (MIRT637471)
- hsa-miR-4486 (MIRT637472)
- hsa-miR-4793-3p (MIRT637473)
- hsa-miR-766-3p (MIRT637474)
- hsa-miR-372-5p (MIRT637475)
- hsa-miR-371a-5p (MIRT637476)
- hsa-miR-616-5p (MIRT637477)
- hsa-miR-373-5p (MIRT637478)
- hsa-miR-371b-5p (MIRT637479)
- hsa-miR-1248 (MIRT637480)
- hsa-miR-1237-3p (MIRT637481)
- hsa-miR-939-3p (MIRT637482)
- hsa-miR-6849-3p (MIRT637483)
- hsa-miR-1273g-3p (MIRT637484)
- hsa-miR-759 (MIRT637485)
- hsa-miR-3613-3p (MIRT637486)
- hsa-miR-5586-3p (MIRT637487)
- hsa-miR-508-5p (MIRT637488)
- hsa-miR-4797-5p (MIRT637489)
- hsa-miR-1468-3p (MIRT718222)
- hsa-miR-4729 (MIRT718223)
- hsa-miR-4524b-3p (MIRT718224)
miRNA Products
Inhibitory RNA Products
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Clone Products
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-
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Cell Line Products
-
Horizon Cell Lines for DEFB105B
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB105B Gene
Localization for DEFB105B Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFB105B Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| plasma membrane | 1 |
| nucleus | 1 |
| cytosol | 1 |
| golgi apparatus | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB105B Gene
Pathways & Interactions for DEFB105B Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Defensins |
.81
.81
|
|
| 2 | Innate Immune System |
.61
|
|
Pathways by source for DEFB105B Gene
5 Reactome pathways for DEFB105B Gene
Interacting Proteins for DEFB105B 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 | -- |
No data available for SIGNOR curated interactions for DEFB105B Gene
Transcripts for DEFB105B Gene
mRNA/cDNA for DEFB105B Gene
- 1 REFSEQ mRNAs :
- 5 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000335510 321 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DEFB105B - Select products 50% OFF >
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- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DEFB105B
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-
Santa Cruz Biotechnology (SCBT) CRISPR for DEFB105B
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DEFB105B
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Clone Products
- Applied Biological Materials (abm): Clones for DEFB105B - Select products 50% OFF >
- * DEFB105B as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
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-
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Relevant External Links for DEFB105B Gene
- GeneLoc Exon Structure for
- DEFB105B
Expression for DEFB105B Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB105B
SOURCE GeneReport for Unigene cluster for DEFB105B Gene:
Hs.381378mRNA Expression by UniProt/SwissProt for DEFB105B Gene:
Q8NG35-D105A_HUMAN
Tissue specificity:
Specifically expressed in testis.
Primer Products
-
OriGene qPCR primer pairs for DEFB105B
Gene Expression Assay Products
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 DEFB105B Gene
Orthologs for DEFB105B Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DEFB105A 30 31 |
|
OneToMany | |
| Dog (Canis familiaris) |
Mammalia | DEFB105A 30 |
|
||
| CBD105 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| Rat (Rattus norvegicus) |
Mammalia | Defb12 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | LOC100296624 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Defb12 30 17 31 |
|
ManyToMany | |
| Defb35 31 |
|
ManyToMany |
- Species where no ortholog for DEFB105B 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)
- 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)
- 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)
Paralogs for DEFB105B Gene
Variants for DEFB105B Gene
Additional Variant Information for DEFB105B Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEFB105B
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for DEFB105B Gene
Disorders for DEFB105B Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| cardiomyopathy, familial hypertrophic, 12 |
|
|
| osteopetrosis, autosomal recessive 2 |
|
|
| cardiomyopathy, familial hypertrophic, 6 |
|
|
| congenital bile acid synthesis defect |
|
|
| west nile fever |
|
|
Search DEFB105B in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for DEFB105B
No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB105B Gene
Publications for DEFB105B Gene
- Duplication and selection in the evolution of primate beta-defensin genes. (PMID: 12734011) Semple CA … Dorin JR (Genome biology 2003) 3 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
- A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
- Human defensin 5 disulfide array mutants: disulfide bond deletion attenuates antibacterial activity against Staphylococcus aureus. (PMID: 21861459) Wanniarachchi YA … Nolan EM (Biochemistry 2011) 3
- 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
ExternalLinks
Products for DEFB105B Gene
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Sources for DEFB105B Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
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- (68) GeneGo (Thomson Reuters)
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- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
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- (78) RefSeq
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- (83) Illumina
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