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Aliases for DEFB103A Gene

Aliases for DEFB103A Gene

  • Defensin Beta 103A 2 3 5
  • Beta-Defensin 3 2 3 4
  • Defensin-Like Protein 3 4
  • Defensin, Beta 103 3 4
  • Defensin, Beta 3 2 3
  • DEFB103 3 4
  • DEFB-3 3 4
  • DEFB3 3 4
  • HBD-3 3 4
  • BD-3 3 4
  • HBD3 3 4
  • Defensin, Beta 103A 2
  • Beta-Defensin 103 3
  • DEFB103A DEFB103B 4
  • Beta Defensin 3 2
  • Beta Defensin-3 2
  • HBP-3 3
  • HBP3 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. Among its related pathways are Immune System 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

Enhancers for DEFB103A Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08F007863 0.2 Ensembl 0.3 -17.7 -17704 0.2 SPAG11A DEFB103A
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB103A on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB103A Gene

Chromosome:
8
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

Genes around DEFB103A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB103A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for DEFB103A Gene

No Post-translational modifications

Other Protein References for DEFB103A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB103A Gene

Domains & Families for DEFB103A Gene

Gene Families for DEFB103A Gene

Protein Domains for DEFB103A Gene

InterPro:
Blocks:
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 :
  • Belongs to the beta-defensin family.
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

GenomeRNAi human phenotypes for DEFB103A:
genes like me logo Genes that share phenotypes with DEFB103A: view

Animal Model Products

  • Taconic Biosciences Mouse Models for DEFB103A

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

Localization for DEFB103A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB103A Gene

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 DEFB103A gene
Compartment Confidence
extracellular 5
golgi apparatus 4
plasma membrane 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DEFB103A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 21115716
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with DEFB103A: view

Pathways & Interactions for DEFB103A Gene

SuperPathways for DEFB103A Gene

SuperPathway Contained pathways
1 Defensins
.83
2 Immune System
genes like me logo Genes that share pathways with DEFB103A: view

Pathways by source for DEFB103A Gene

4 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: ENSP00000320951 P81534-D103A_HUMAN for DEFB103A Gene via STRING IID

Gene Ontology (GO) - Biological Process for DEFB103A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0006965 positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria TAS 11085990
GO:0042742 defense response to bacterium IMP 21115716
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with DEFB103A: view

No data available for SIGNOR curated interactions for DEFB103A Gene

Transcripts for DEFB103A Gene

mRNA/cDNA for DEFB103A Gene

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

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and SAGE for DEFB103A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB103A Gene:

DEFB103A

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 expression patterns with DEFB103A: view

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 and Protein tissue co-expression partners 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 35
  • 99 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CBD103 34 35
  • 78.61 (n)
cow
(Bos Taurus)
Mammalia DEFB300 35
  • 75 (a)
ManyToMany
-- 35
  • 73 (a)
ManyToMany
-- 35
  • 70 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Defb14 35
  • 69 (a)
OneToMany
Species where no ortholog for DEFB103A 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)
  • 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

(5) 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
rs112876614 -- 7,882,748(+) ACTCA(A/C)CTTTC downstream-variant-500B
rs13439779 -- 7,880,647(+) ACAGA(A/T)AATTT upstream-variant-2KB
rs199601317 -- 7,430,575(+) ATCCA(G/T)CCCTG upstream-variant-2KB
rs199947208 -- 7,430,152(+) CCCAC(A/G)CTGAG utr-variant-5-prime
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
nsv471650 CNV gain+loss 15918152
nsv471459 CNV gain 19718026
nsv469521 CNV gain+loss 16826518
nsv442397 CNV gain 18776908
nsv433398 CNV gain 18776910
nsv428194 CNV gain+loss 18775914
nsv1141575 CNV duplication 24896259
nsv1141572 CNV duplication 24896259
nsv1032809 CNV loss 25217958
nsv1032072 CNV gain 25217958
nsv1031577 CNV gain 25217958
nsv1031322 CNV loss 25217958
nsv1030619 CNV loss 25217958
nsv1028208 CNV loss 25217958
nsv1027709 CNV gain+loss 25217958
nsv1026835 CNV gain+loss 25217958
nsv1026778 CNV gain 25217958
nsv1022975 CNV loss 25217958
nsv1017081 CNV gain 25217958
nsv1015218 CNV gain 25217958
esv996398 CNV gain 20482838
esv992071 CNV gain 20482838
esv3891325 CNV gain 25118596
esv3891324 CNV gain 25118596
esv3891323 CNV gain+loss 25118596
esv3891321 CNV gain+loss 25118596
esv3891318 CNV gain 25118596
esv3616114 CNV loss 21293372
esv3584577 CNV gain 24956385
esv3584574 CNV gain 24956385
esv33606 CNV gain+loss 17666407
esv2764098 CNV gain+loss 21179565
esv2761169 CNV gain+loss 21179565
esv2759589 CNV gain+loss 17122850
esv2752266 CNV loss 17911159
esv2752265 CNV gain 17911159
esv25631 CNV gain+loss 19812545
esv21583 CNV gain+loss 19812545
dgv6972n100 CNV loss 25217958
dgv6971n100 CNV loss 25217958
dgv6970n100 CNV gain 25217958
dgv6969n100 CNV gain+loss 25217958
dgv6968n100 CNV gain 25217958
dgv6967n100 CNV gain+loss 25217958
dgv6966n100 CNV loss 25217958
dgv6965n100 CNV gain+loss 25217958
dgv6964n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6962n100 CNV gain 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6960n100 CNV loss 25217958
dgv6959n100 CNV loss 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6955n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6949n100 CNV gain 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6941n100 CNV gain+loss 25217958
dgv6940n100 CNV loss 25217958
dgv6939n100 CNV gain 25217958
dgv6938n100 CNV loss 25217958
dgv6937n100 CNV loss 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6935n100 CNV gain 25217958
dgv6934n100 CNV gain+loss 25217958
dgv6933n100 CNV loss 25217958
dgv6932n100 CNV gain+loss 25217958
dgv6931n100 CNV gain+loss 25217958
dgv6930n100 CNV gain+loss 25217958
dgv6929n100 CNV loss 25217958
dgv6928n100 CNV gain 25217958
dgv6927n100 CNV gain+loss 25217958
dgv6926n100 CNV loss 25217958
dgv6925n100 CNV gain 25217958
dgv6924n100 CNV loss 25217958
dgv6923n100 CNV gain+loss 25217958
dgv6922n100 CNV gain+loss 25217958
dgv6921n100 CNV loss 25217958
dgv6920n100 CNV gain 25217958
dgv6915n100 CNV gain 25217958
dgv6912n100 CNV loss 25217958
dgv6911n100 CNV loss 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6909n100 CNV gain 25217958
dgv6908n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6906n100 CNV gain 25217958
dgv6905n100 CNV gain 25217958
dgv6904n100 CNV gain 25217958
dgv6898n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6893n100 CNV gain 25217958
dgv6890n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6885n100 CNV gain 25217958
dgv6884n100 CNV gain 25217958
dgv6882n100 CNV gain 25217958
dgv31n14 CNV loss 18776910
dgv26n31 CNV gain 19718026
dgv25n31 CNV gain 19718026
dgv2035e212 CNV gain 25503493
dgv13n29 CNV gain+loss 16826518
dgv11936n54 CNV loss 21841781
dgv11935n54 CNV gain 21841781
dgv11933n54 CNV loss 21841781
dgv11932n54 CNV loss 21841781
dgv11931n54 CNV loss 21841781
dgv11930n54 CNV gain 21841781
dgv11929n54 CNV loss 21841781
dgv11928n54 CNV gain 21841781
dgv11920n54 CNV loss 21841781
dgv11919n54 CNV loss 21841781
dgv11918n54 CNV loss 21841781
dgv11917n54 CNV gain 21841781
dgv11916n54 CNV loss 21841781
dgv11915n54 CNV loss 21841781
dgv11914n54 CNV gain 21841781
dgv11913n54 CNV gain 21841781
dgv11912n54 CNV loss 21841781
dgv11911n54 CNV loss 21841781
dgv1170n67 CNV loss 20364138
nsv967559 CNV duplication 23825009
nsv967555 CNV duplication 23825009
nsv951093 CNV deletion 24416366
nsv951092 CNV deletion 24416366
nsv8281 CNV gain+loss 18304495
nsv824524 CNV gain+loss 20364138
nsv824521 CNV gain 20364138
nsv824519 CNV loss 20364138
nsv821656 CNV gain 15273396
nsv610137 CNV loss 21841781
nsv610136 CNV gain 21841781
nsv610135 CNV loss 21841781
nsv610131 CNV gain+loss 21841781
nsv610129 CNV loss 21841781
nsv610119 CNV gain+loss 21841781
nsv610113 CNV loss 21841781
nsv610102 CNV gain+loss 21841781
nsv610068 CNV loss 21841781
nsv610065 CNV gain+loss 21841781
nsv610044 CNV gain 21841781
nsv515968 CNV gain+loss 19592680
nsv515100 CNV gain 21397061
nsv510977 OTHER complex 20534489
nsv508496 CNV deletion 20534489
nsv471651 CNV gain+loss 15918152

Relevant External Links for DEFB103A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB103A

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

Disorders for DEFB103A Gene

Relevant External Links for DEFB103A

Genetic Association Database (GAD)
DEFB103A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB103A

No disorders were found for DEFB103A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas 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 64
  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 64
  3. 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 46 64
  4. 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 64
  5. Potential roles of placental human beta-defensin-3 and apolipoprotein B mRNA-editing enzyme catalytic polypeptide 3G in prevention of intrauterine transmission of hepatitis B virus. (PMID: 25196417) Bai X. … Dong M. (J. Med. Virol. 2015) 3 64

Products for DEFB103A Gene

  • Cloud-Clone Corp. Antibodies for DEFB103A
  • Cloud-Clone Corp. Proteins for DEFB103A
  • Cloud-Clone Corp Assay Kits for DEFB103A

Sources for DEFB103A Gene

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