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Aliases for DEFB113 Gene

Aliases for DEFB113 Gene

  • Defensin Beta 113 2 3 5
  • Defensin, Beta 113 2 4
  • Beta-Defensin 13 3 4
  • DEFB-13 3 4
  • Beta-Defensin 113 3
  • Defensin, Beta 13 3
  • DEFB13 4

External Ids for DEFB113 Gene

Previous GeneCards Identifiers for DEFB113 Gene

  • GC06U990316
  • GC06M050044
  • GC06M049667

Summaries for DEFB113 Gene

Entrez Gene Summary for DEFB113 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. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB113 Gene

DEFB113 (Defensin Beta 113) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB113 Gene

  • Has antibacterial activity.

Additional gene information for DEFB113 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB113 Gene

Genomics for DEFB113 Gene

GeneHancer (GH) Regulatory Elements for DEFB113 Gene

Promoters and enhancers for DEFB113 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
GH06I049939 Enhancer 0.9 ENCODE 10.8 +29.6 29584 1.2 PKNOX1 ATF1 ARNT YY1 ZNF766 E2F8 ATF7 NCOA1 REST ZNF592 DEFB113 DEFB133 GC06P049919
GH06I049964 Promoter 0.5 EPDnew 0.4 +5.4 5442 0.1 DEFB114 DEFB113
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DEFB113 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB113 gene promoter:

Genomic Locations for DEFB113 Gene

Genomic Locations for DEFB113 Gene
chr6:49,968,677-49,969,625
(GRCh38/hg38)
Size:
949 bases
Orientation:
Minus strand
chr6:49,936,390-49,937,338
(GRCh37/hg19)

Genomic View for DEFB113 Gene

Genes around DEFB113 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB113 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB113 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB113 Gene

Proteins for DEFB113 Gene

  • Protein details for DEFB113 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KQ7-DB113_HUMAN
    Recommended name:
    Beta-defensin 113
    Protein Accession:
    Q30KQ7

    Protein attributes for DEFB113 Gene

    Size:
    82 amino acids
    Molecular mass:
    9640 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB113 Gene

Post-translational modifications for DEFB113 Gene

No Post-translational modifications

Other Protein References for DEFB113 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB113 Gene

Domains & Families for DEFB113 Gene

Gene Families for DEFB113 Gene

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

Protein Domains for DEFB113 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB113 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KQ7

UniProtKB/Swiss-Prot:

DB113_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB113: view

Function for DEFB113 Gene

Molecular function for DEFB113 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB113 Gene

GenomeRNAi human phenotypes for DEFB113:
genes like me logo Genes that share phenotypes with DEFB113: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB113 Gene

Localization for DEFB113 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB113 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 DEFB113 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB113 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB113: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB113 Gene

Pathways & Interactions for DEFB113 Gene

genes like me logo Genes that share pathways with DEFB113: view

Pathways by source for DEFB113 Gene

Interacting Proteins for DEFB113 Gene

Gene Ontology (GO) - Biological Process for DEFB113 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 --
genes like me logo Genes that share ontologies with DEFB113: view

No data available for SIGNOR curated interactions for DEFB113 Gene

Drugs & Compounds for DEFB113 Gene

No Compound Related Data Available

Transcripts for DEFB113 Gene

mRNA/cDNA for DEFB113 Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB113 Gene

No ASD Table

Relevant External Links for DEFB113 Gene

GeneLoc Exon Structure for
DEFB113
ECgene alternative splicing isoforms for
DEFB113

Expression for DEFB113 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB113 Gene

Protein differential expression in normal tissues from HIPED for DEFB113 Gene

This gene is overexpressed in Breast (57.7) and Retina (11.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFB113 Gene



Protein tissue co-expression partners for DEFB113 Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB113 Gene:

DEFB113

SOURCE GeneReport for Unigene cluster for DEFB113 Gene:

Hs.582789
genes like me logo Genes that share expression patterns with DEFB113: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB113 Gene

Orthologs for DEFB113 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB113 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB113 33 34
  • 97.15 (n)
mouse
(Mus musculus)
Mammalia Defb18 33 16 34
  • 72.95 (n)
dog
(Canis familiaris)
Mammalia CBD113 34
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Defb18 33
  • 71.5 (n)
Species where no ortholog for DEFB113 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • 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 squirt (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 DEFB113 Gene

ENSEMBL:
Gene Tree for DEFB113 (if available)
TreeFam:
Gene Tree for DEFB113 (if available)

Paralogs for DEFB113 Gene

No data available for Paralogs for DEFB113 Gene

Variants for DEFB113 Gene

Sequence variations from dbSNP and Humsavar for DEFB113 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1001878264 -- 49,970,879(-) A/G upstream_transcript_variant
rs1001992923 -- 49,971,141(-) C/T upstream_transcript_variant
rs1003996471 -- 49,969,431(-) A/G intron_variant
rs1004054350 -- 49,968,234(-) T/G downstream_transcript_variant
rs1004123928 -- 49,969,814(-) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB113 Gene

Variant ID Type Subtype PubMed ID
dgv1771e212 CNV loss 25503493
nsv603091 CNV loss 21841781

Variation tolerance for DEFB113 Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.10; 2.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB113 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB113

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB113 Gene

Disorders for DEFB113 Gene

Additional Disease Information for DEFB113

No disorders were found for DEFB113 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB113 Gene

Publications for DEFB113 Gene

  1. 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) 2 3 4 58
  2. 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) 2 3 58

Products for DEFB113 Gene

Sources for DEFB113 Gene

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