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 4
  • Defensin, Beta 120 2 3 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. Diseases associated with DEFB119 include childhood leukemia. Among its related pathways are Defensins and Defensins.

UniProtKB/Swiss-Prot for DEFB119 Gene

  • Has antibacterial activity.

Gene Wiki entry for DEFB119 Gene

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

Genomics for DEFB119 Gene

Regulatory Elements for DEFB119 Gene

Genomic Location for DEFB119 Gene

Start:
31,377,163 bp from pter
End:
31,390,649 bp from pter
Size:
13,487 bases
Orientation:
Minus strand

Genomic View for DEFB119 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DEFB119 Gene at MOPED

Post-translational modifications for DEFB119 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB119 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB119 Gene

Domains for DEFB119 Gene

Gene Families for DEFB119 Gene

HGNC:
  • DEFB :Defensins, beta

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 :
  • Q8N690
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.

Phenotypes for DEFB119 Gene

GenomeRNAi human phenotypes for DEFB119:
genes like me logo Genes that share phenotypes with DEFB119: view

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB119 Gene

Localization for DEFB119 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB119 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB119 Gene COMPARTMENTS Subcellular localization image for DEFB119 gene
Compartment Confidence
extracellular 3
cytoskeleton 1
cytosol 1
nucleus 1

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

Pathways for DEFB119 Gene

SuperPathways for DEFB119 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB119: view

Pathways by source for DEFB119 Gene

2 Reactome pathways 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 --
GO:0042742 defense response to bacterium IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB119: view

Transcripts for DEFB119 Gene

Unigene Clusters for DEFB119 Gene

Defensin, beta 119:
Representative Sequences:

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 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 (52.5).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DEFB119 Gene

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.
genes like me logo Genes that share expressions with DEFB119: view

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 35
  • 99.21 (n)
  • 97.62 (a)
cow
(Bos Taurus)
Mammalia DEFB119 35
  • 76.96 (n)
  • 63.24 (a)
dog
(Canis familiaris)
Mammalia DEFB119 35
  • 83.12 (n)
  • 73.42 (a)
DEFB119 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb19 35
  • 77.29 (n)
  • 66.67 (a)
Defb19 16
rat
(Rattus norvegicus)
Mammalia Defb24 35
  • 75 (n)
  • 62.5 (a)
Species with no ortholog for DEFB119:
  • 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)

Paralogs for DEFB119 Gene

Selected SIMAP similar genes for DEFB119 Gene using alignment to 1 proteins:

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 Sequence Context AA Info Type MAF
rs709045 -- 31,377,211(-) TGGGC(A/G/T)CAGAG utr-variant-3-prime, nc-transcript-variant
rs1989598 -- 31,383,555(-) cctgg(A/C/T)ctttt intron-variant
rs1989599 -- 31,383,533(-) TTTTT(A/T)AGACA intron-variant
rs1989600 -- 31,383,632(-) ggtct(C/T)gatct intron-variant
rs2206381 -- 31,390,413(-) CGTGA(A/G)CCTCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv912835 CNV Gain 21882294

Relevant External Links for DEFB119 Gene

HapMap Linkage Disequilibrium report
DEFB119

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

Disorders for DEFB119 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for DEFB119 Gene including...

Search for DEFB119 Gene in MalaCards »

Relevant External Links for DEFB119

Genetic Association Database (GAD)
DEFB119
Human Genome Epidemiology (HuGE) Navigator
DEFB119
genes like me logo Genes that share disorders with DEFB119: view

No data available for UniProtKB/Swiss-Prot for DEFB119 Gene

Publications for DEFB119 Gene

  1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PMID: 15772680) Radhakrishnan Y. … Hall S.H. (Genes Immun. 2005) 3 4

Products for DEFB119 Gene

Sources for DEFB119 Gene

Back to Top

Content