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Aliases for DEFB103A Gene

Aliases for DEFB103A Gene

  • Defensin, Beta 103A 2 3
  • Beta-Defensin 3 2 3 4
  • DEFB3 3 4 6
  • HBD3 3 4 6
  • Defensin-Like Protein 3 4
  • Defensin, Beta 103 3 4
  • Defensin, Beta 3 2 3
  • Beta Defensin 3 2 3
  • Beta Defensin-3 2 3
  • DEFB103 3 4
  • DEFB-3 3 4
  • HBD-3 3 4
  • HBP3 3 6
  • BD-3 3 4
  • Beta-Defensin 103 3
  • DEFB103A DEFB103B 4
  • HBP-3 3
  • BD3 4

External Ids for DEFB103A Gene

Previous HGNC Symbols for DEFB103A Gene

  • DEFB3
  • DEFB103

Previous GeneCards Identifiers for DEFB103A Gene

  • GC08M007274
  • GC08P007778
  • GC08P007739

Summaries for DEFB103A Gene

Entrez Gene Summary for DEFB103A Gene

  • Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 103, an antibiotic peptide which is induced by bacteria and interferon gamma, and which displays antimicrobial activity against S. aureus, S. pyogenes, P. aeruginosa, E. coli, and C. albicans. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB103A Gene

DEFB103A (Defensin, Beta 103A) is a Protein Coding gene. Diseases associated with DEFB103A include oral squamous cell carcinoma and ileitis. Among its related pathways are Defensins and Defensins. An important paralog of this gene is DEFB103B.

UniProtKB/Swiss-Prot for DEFB103A Gene

  • Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB103A Gene

Genomics for DEFB103A Gene

Regulatory Elements for DEFB103A Gene

Genomic Location for DEFB103A Gene

Start:
7,881,204 bp from pter
End:
7,882,664 bp from pter
Size:
1,461 bases
Orientation:
Plus strand

Genomic View for DEFB103A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB103A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB103A Gene

Proteins for DEFB103A Gene

  • Protein details for DEFB103A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81534-D103A_HUMAN
    Recommended name:
    Beta-defensin 103
    Protein Accession:
    P81534
    Secondary Accessions:
    • Q8NFG6
    • Q9NPF6

    Protein attributes for DEFB103A Gene

    Size:
    67 amino acids
    Molecular mass:
    7697 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB103A Gene

neXtProt entry for DEFB103A Gene

Proteomics data for DEFB103A Gene at MOPED

Post-translational modifications for DEFB103A Gene

No Post-translational modifications

Other Protein References for DEFB103A Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB103A Gene

Domains for DEFB103A Gene

Gene Families for DEFB103A Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB103A Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB103A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P81534

UniProtKB/Swiss-Prot:

D103A_HUMAN :
  • P81534
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB103A: view

Function for DEFB103A Gene

Molecular function for DEFB103A Gene

UniProtKB/Swiss-Prot Function: Exhibits antimicrobial activity against Gram-positive bacteria S.aureus and S.pyogenes, Gram-negative bacteria P.aeruginosa and E.coli and the yeast C.albicans. Kills multiresistant S.aureus and vancomycin-resistant E.faecium. No significant hemolytic activity was observed.
UniProtKB/Swiss-Prot Induction: By bacterial infection and by IFNG/IFN-gamma.

Phenotypes for DEFB103A Gene

MGI mutant phenotypes for DEFB103A:
inferred from 1 alleles
genes like me logo Genes that share phenotypes with DEFB103A: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB103A

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB103A Gene

Localization for DEFB103A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB103A Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB103A Gene COMPARTMENTS Subcellular localization image for DEFB103A gene
Compartment Confidence
extracellular 5
golgi apparatus 4

Gene Ontology (GO) - Cellular Components for DEFB103A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB103A: view

Pathways for DEFB103A Gene

SuperPathways for DEFB103A Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB103A: view

Pathways by source for DEFB103A Gene

2 Reactome pathways for DEFB103A Gene

Interacting Proteins for DEFB103A Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000320951%0d%0a9606.ENSP00000324633%0d%0a
Selected Interacting proteins: P81534-D103A_HUMAN ENSP00000320951 for DEFB103A Gene via I2D STRING

Gene Ontology (GO) - Biological Process for DEFB103A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response --
GO:0006965 positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria TAS 11085990
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with DEFB103A: view

Transcripts for DEFB103A Gene

mRNA/cDNA for DEFB103A Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB103A

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB103A Gene

No ASD Table

Relevant External Links for DEFB103A Gene

GeneLoc Exon Structure for
DEFB103A
ECgene alternative splicing isoforms for
DEFB103A

Expression for DEFB103A Gene

mRNA expression in normal human tissues for DEFB103A Gene

SOURCE GeneReport for Unigene cluster for DEFB103A Gene Hs.283082

mRNA Expression by UniProt/SwissProt for DEFB103A Gene

P81534-D103A_HUMAN
Tissue specificity: Highly expressed in skin and tonsils, and to a lesser extent in trachea, uterus, kidney, thymus, adenoid, pharynx and tongue. Low expression in salivary gland, bone marrow, colon, stomach, polyp and larynx. No expression in small intestine.
genes like me logo Genes that share expressions with DEFB103A: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein expression for DEFB103A Gene

Orthologs for DEFB103A Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB103A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB103A 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 36
  • 73 (a)
ManyToMany
-- 36
  • 70 (a)
ManyToMany
DEFB300 36
  • 75 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia CBD103 35
  • 78.61 (n)
  • 79.1 (a)
CBD103 36
  • 79 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Defb14 16
Defb14 36
  • 69 (a)
OneToMany
Species with no ortholog for DEFB103A:
  • 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)
  • rat (Rattus norvegicus)
  • 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 DEFB103A Gene

ENSEMBL:
Gene Tree for DEFB103A (if available)
TreeFam:
Gene Tree for DEFB103A (if available)

Paralogs for DEFB103A Gene

Paralogs for DEFB103A Gene

Selected SIMAP similar genes for DEFB103A Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with DEFB103A: view

Variants for DEFB103A Gene

Sequence variations from dbSNP and Humsavar for DEFB103A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs3789862 -- 7,881,697(+) GATCA(C/G)GAGGT intron-variant
rs3958981 -- 7,880,885(+) GCCAG(C/G)TGGTC upstream-variant-2KB
rs112876614 -- 7,882,748(+) ACTCA(A/C)CTTTC downstream-variant-500B
rs141383059 -- 7,880,647(+) ACAGA(A/T)AATTT upstream-variant-2KB
rs200085903 -- 7,880,186(+) ATCCA(C/T)TGGAT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB103A Gene

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
nsv890074 CNV Gain 21882294
esv2736558 CNV Deletion 23290073
nsv510977 CNV Complex 20534489
dgv2193e1 CNV Complex 17122850
dgv7659n71 CNV Gain 21882294
esv21583 CNV Gain+Loss 19812545
nsv890078 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7661n71 CNV Gain 21882294
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
dgv7663n71 CNV Loss 21882294
dgv7664n71 CNV Loss 21882294
dgv2194e1 CNV Complex 17122850
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7666n71 CNV Gain 21882294
dgv7667n71 CNV Gain+Loss 21882294
dgv7668n71 CNV Gain 21882294
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7672n71 CNV Gain+Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv996398 CNV Gain 20482838
nsv890110 CNV Gain 21882294
esv2752265 CNV Gain 17911159
nsv824519 CNV Loss 20364138
nsv824521 CNV Gain 20364138
nsv515100 CNV Complex 21397061
dgv31n14 CNV Loss 18776910
dgv7675n71 CNV Loss 21882294
nsv890153 CNV Loss 21882294
nsv442397 CNV CNV 18776908
nsv469521 CNV Complex 16826518
dgv7677n71 CNV Gain+Loss 21882294
dgv7678n71 CNV Gain 21882294
dgv7679n71 CNV Gain 21882294
dgv25n31 CNV Duplication 19718026
esv2752266 CNV Loss 17911159
nsv508496 CNV Loss 20534489
dgv7682n71 CNV Gain 21882294
esv25631 CNV Gain+Loss 19812545
nsv890256 CNV Gain+Loss 21882294
dgv7683n71 CNV Gain+Loss 21882294
dgv7684n71 CNV Loss 21882294
dgv7685n71 CNV Gain 21882294
nsv890270 CNV Loss 21882294
dgv7686n71 CNV Gain 21882294
dgv7687n71 CNV Gain 21882294
esv992071 CNV Gain 20482838
dgv7688n71 CNV Gain 21882294
dgv7689n71 CNV Gain 21882294
nsv433398 CNV Gain 18776910
dgv7690n71 CNV Gain+Loss 21882294
dgv7691n71 CNV Gain 21882294
dgv26n31 CNV Duplication 19718026
dgv1170n67 CNV Loss 20364138
nsv824524 CNV Gain+Loss 20364138
dgv7692n71 CNV Gain 21882294
dgv7693n71 CNV Gain+Loss 21882294
dgv7694n71 CNV Loss 21882294
dgv7695n71 CNV Gain 21882294
nsv890300 CNV Loss 21882294
dgv7696n71 CNV Gain 21882294
nsv890317 CNV Gain+Loss 21882294
dgv7697n71 CNV Gain 21882294
dgv10n29 CNV Gain 16826518
nsv471651 CNV Gain+Loss 15918152
nsv471459 CNV Duplication 19718026

Relevant External Links for DEFB103A Gene

HapMap Linkage Disequilibrium report
DEFB103A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB103A Gene

Disorders for DEFB103A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for DEFB103A Gene including...

Search for DEFB103A Gene in MalaCards »

Relevant External Links for DEFB103A

Genetic Association Database (GAD)
DEFB103A
genes like me logo Genes that share disorders with DEFB103A: view

No data available for UniProtKB/Swiss-Prot for DEFB103A Gene

Publications for DEFB103A Gene

  1. Isolation and characterization of human beta-defensin-3, a novel human inducible peptide antibiotic. (PMID: 11085990) Harder J. … Schroeder J.-M. (J. Biol. Chem. 2001) 2 3 4
  2. Discovery of new human beta-defensins using a genomics-based approach. (PMID: 11223260) Jia H.P. … McCray P.B. Jr. (Gene 2001) 2 3 4
  3. The solution structures of the human beta-defensins lead to a better understanding of the potent bactericidal activity of HBD3 against Staphylococcus aureus. (PMID: 11741980) Schibli D.J. … Vogel H.J. (J. Biol. Chem. 2002) 3 4
  4. Analysis of beta-defensin and Toll-like receptor gene copy number variation in celiac disease. (PMID: 20483368) Fernandez-Jimenez N. … Bilbao J.R. (Hum. Immunol. 2010) 3 48
  5. Legionella pneumophila induces human beta defensin-3 in pulmonary cells. (PMID: 20615218) Scharf S. … N'Guessan P.D. (Respir. Res. 2010) 3

Products for DEFB103A Gene

  • antibodies-online proteins for DEFB103A
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  • antibodies-online kits for DEFB103A

Sources for DEFB103A Gene

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