Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DEFB119 Gene

Aliases for DEFB119 Gene

  • Defensin Beta 119 2 3 5
  • Defensin, Beta 120 2 3 4
  • Defensin, Beta 119 2 4
  • ESC42-RELA 3 4
  • DEFB120 3 4
  • DEFB-19 3 4
  • DEFB-20 3 4
  • DEFB20 3 4
  • Beta-Defensin 119 3
  • Defensin, Beta 19 3
  • Defensin, Beta 20 3
  • Beta-Defensin 120 4
  • Beta-Defensin 19 4
  • Beta-Defensin 20 4
  • ESC42-RELB 3
  • DEFB19 4

External Ids for DEFB119 Gene

Previous HGNC Symbols for DEFB119 Gene

  • DEFB120

Previous GeneCards Identifiers for DEFB119 Gene

  • GC20U990234
  • GC20M029712
  • GC20M030662
  • GC20M030709
  • GC20M029428
  • GC20M029964
  • GC20M026753

Summaries for DEFB119 Gene

Entrez Gene Summary for DEFB119 Gene

  • This gene encodes a member of the beta subfamily of defensins. Beta-defensins are antimicrobial peptides that protect tissues and organs from infection by a variety of microorganisms. This gene is found in a cluster with other beta-defensin genes on the long arm of chromosome 20. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB119 Gene

DEFB119 (Defensin Beta 119) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB119 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB119 Gene

Additional gene information for DEFB119 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB119 Gene

Genomics for DEFB119 Gene

GeneHancer (GH) Regulatory Elements for DEFB119 Gene

Promoters and enhancers for DEFB119 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
GH20J031390 Promoter 0.6 EPDnew 650.7 +0.1 122 0.1 ATF2 DEFB119 GC20M031380
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB119 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DEFB119 gene promoter:
  • MIF-1
  • RORalpha1
  • GATA-1

Genomic Locations for DEFB119 Gene

Genomic Locations for DEFB119 Gene
chr20:31,377,163-31,390,649
(GRCh38/hg38)
Size:
13,487 bases
Orientation:
Minus strand
chr20:29,964,967-29,978,406
(GRCh37/hg19)
Size:
13,440 bases
Orientation:
Minus strand

Genomic View for DEFB119 Gene

Genes around DEFB119 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB119 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB119 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB119 Gene

Proteins for DEFB119 Gene

  • Protein details for DEFB119 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N690-DB119_HUMAN
    Recommended name:
    Beta-defensin 119
    Protein Accession:
    Q8N690
    Secondary Accessions:
    • Q5GRG1
    • Q5JWP1
    • Q5TH42
    • Q8N689

    Protein attributes for DEFB119 Gene

    Size:
    84 amino acids
    Molecular mass:
    9822 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DEFB119 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEFB119 Gene

Post-translational modifications for DEFB119 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB119 Gene

No data available for DME Specific Peptides for DEFB119 Gene

Domains & Families for DEFB119 Gene

Gene Families for DEFB119 Gene

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

Protein Domains for DEFB119 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB119 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8N690

UniProtKB/Swiss-Prot:

DB119_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB119: view

Function for DEFB119 Gene

Molecular function for DEFB119 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB119: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DEFB119

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB119

Clone Products

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 DEFB119 Gene

Localization for DEFB119 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB119 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 DEFB119 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface IBA --
genes like me logo Genes that share ontologies with DEFB119: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB119 Gene

Pathways & Interactions for DEFB119 Gene

genes like me logo Genes that share pathways with DEFB119: view

Pathways by source for DEFB119 Gene

Interacting Proteins for DEFB119 Gene

Gene Ontology (GO) - Biological Process for DEFB119 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA,IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB119: view

No data available for SIGNOR curated interactions for DEFB119 Gene

Drugs & Compounds for DEFB119 Gene

No Compound Related Data Available

Transcripts for DEFB119 Gene

mRNA/cDNA for DEFB119 Gene

Unigene Clusters for DEFB119 Gene

Defensin, beta 119:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB119

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB119 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b
SP1: - - -
SP2:
SP3: - - - -
SP4: - -
SP5:
SP6:

Relevant External Links for DEFB119 Gene

GeneLoc Exon Structure for
DEFB119
ECgene alternative splicing isoforms for
DEFB119

Expression for DEFB119 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB119 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFB119 Gene

This gene is overexpressed in Testis (x52.5).

Protein differential expression in normal tissues from HIPED for DEFB119 Gene

This gene is overexpressed in Testis (64.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFB119 Gene



Protein tissue co-expression partners for DEFB119 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DEFB119 Gene:

DEFB119

SOURCE GeneReport for Unigene cluster for DEFB119 Gene:

Hs.516998

mRNA Expression by UniProt/SwissProt for DEFB119 Gene:

Q8N690-DB119_HUMAN
Tissue specificity: Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.

Evidence on tissue expression from TISSUES for DEFB119 Gene

  • Lung(4.2)
  • Nervous system(3)
genes like me logo Genes that share expression patterns with DEFB119: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB119 Gene

Orthologs for DEFB119 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB119 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB119 33
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia DEFB119 34 33
  • 83.12 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Defb19 16 33
  • 77.29 (n)
cow
(Bos Taurus)
Mammalia DEFB119 33
  • 76.96 (n)
rat
(Rattus norvegicus)
Mammalia Defb24 33
  • 75 (n)
Species where no ortholog for DEFB119 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)
  • 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 DEFB119 Gene

ENSEMBL:
Gene Tree for DEFB119 (if available)
TreeFam:
Gene Tree for DEFB119 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB119: view image

Paralogs for DEFB119 Gene

(3) SIMAP similar genes for DEFB119 Gene using alignment to 1 proteins:

  • DB119_HUMAN
genes like me logo Genes that share paralogs with DEFB119: view

No data available for Paralogs for DEFB119 Gene

Variants for DEFB119 Gene

Sequence variations from dbSNP and Humsavar for DEFB119 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000064027 -- 31,389,530(-) A/G/T intron_variant
rs1000124181 -- 31,388,322(-) C/A genic_downstream_transcript_variant, intron_variant, splice_donor_variant
rs1000215939 -- 31,383,706(-) G/T genic_downstream_transcript_variant, intron_variant
rs1000293587 -- 31,378,049(-) G/A genic_downstream_transcript_variant, intron_variant
rs1000435878 -- 31,383,822(-) G/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB119 Gene

Variant ID Type Subtype PubMed ID
dgv4298n100 CNV gain 25217958
dgv4299n100 CNV gain 25217958
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
esv3645644 CNV loss 21293372
esv3645645 CNV gain 21293372
esv3645647 CNV gain 21293372
nsv1060041 CNV gain 25217958
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585910 CNV gain 21841781
nsv585911 CNV gain 21841781
nsv979426 CNV duplication 23825009

Variation tolerance for DEFB119 Gene

Residual Variation Intolerance Score: 89.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.50; 64.50% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB119 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB119

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB119 Gene

Disorders for DEFB119 Gene

Additional Disease Information for DEFB119

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DEFB119 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB119 Gene

Publications for DEFB119 Gene

  1. 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 4 58
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 44 58
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 44 58
  4. Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PMID: 15772680) Radhakrishnan Y … Hall SH (Genes and immunity 2005) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for DEFB119 Gene

Sources for DEFB119 Gene

Content
Loading form....