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

Aliases for DEFB1 Gene

Aliases for DEFB1 Gene

  • Defensin Beta 1 2 3 5
  • Defensin, Beta 1 2 3 4
  • Beta Defensin 1 2 3
  • BD-1 3 4
  • HBD1 3 4
  • BD1 3 4
  • Beta-Defensin 1 2
  • Beta-Defensin-1 3
  • DEFB101 3
  • DEFB-1 3
  • HBD-1 4

External Ids for DEFB1 Gene

Previous GeneCards Identifiers for DEFB1 Gene

  • GC08M006792
  • GC08M006982
  • GC08M006715
  • GC08M006508

Summaries for DEFB1 Gene

Entrez Gene Summary for DEFB1 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 1, an antimicrobial peptide implicated in the resistance of epithelial surfaces to microbial colonization. This gene maps in close proximity to defensin family member, defensin, alpha 1 and has been implicated in the pathogenesis of cystic fibrosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for DEFB1 Gene

DEFB1 (Defensin Beta 1) is a Protein Coding gene. Diseases associated with DEFB1 include Endophthalmitis and Tonsillitis. Among its related pathways are Immune System and Defensins.

UniProtKB/Swiss-Prot for DEFB1 Gene

  • Has bactericidal activity.

Gene Wiki entry for DEFB1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB1 Gene

Genomics for DEFB1 Gene

Regulatory Elements for DEFB1 Gene

Enhancers for DEFB1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEFB1 on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB1 Gene

6,870,575 bp from pter
6,878,022 bp from pter
7,448 bases
Minus strand

Genomic View for DEFB1 Gene

Genes around DEFB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB1 Gene

Proteins for DEFB1 Gene

  • Protein details for DEFB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 1
    Protein Accession:
    Secondary Accessions:
    • Q09753

    Protein attributes for DEFB1 Gene

    68 amino acids
    Molecular mass:
    7420 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for DEFB1 Gene

neXtProt entry for DEFB1 Gene

Proteomics data for DEFB1 Gene at MOPED

Post-translational modifications for DEFB1 Gene

No Post-translational modifications

Other Protein References for DEFB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB1 Gene

Domains & Families for DEFB1 Gene

Gene Families for DEFB1 Gene

Protein Domains for DEFB1 Gene


Suggested Antigen Peptide Sequences for DEFB1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the beta-defensin family.
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB1: view

Function for DEFB1 Gene

Molecular function for DEFB1 Gene

GENATLAS Biochemistry:
defensin beta 1,3-4kDa,expressed in many epithelial tissues,implicated in the resistance to microbial colonization,oxygen independent phagocytosis of Gram+,Gram- bacteria,many fungi,some viruses,within 100-150kb of DEFA cluster
UniProtKB/Swiss-Prot Function:
Has bactericidal activity.
genes like me logo Genes that share phenotypes with DEFB1: view

Animal Model 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 DEFB1 Gene

Localization for DEFB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB1 Gene


Subcellular locations from

Jensen Localization Image for DEFB1 Gene COMPARTMENTS Subcellular localization image for DEFB1 gene
Compartment Confidence
extracellular 5
golgi apparatus 4
nucleus 1

No data available for Gene Ontology (GO) - Cellular Components for DEFB1 Gene

Pathways & Interactions for DEFB1 Gene

SuperPathways for DEFB1 Gene

Superpath Contained pathways
1 Defensins
2 Immune System
genes like me logo Genes that share pathways with DEFB1: view

Pathways by source for DEFB1 Gene

4 Reactome pathways for DEFB1 Gene

Gene Ontology (GO) - Biological Process for DEFB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002227 innate immune response in mucosa IDA 12860195
GO:0002526 acute inflammatory response IEA --
GO:0006935 chemotaxis TAS 10521347
GO:0006955 immune response TAS 10521347
GO:0007186 G-protein coupled receptor signaling pathway TAS 10521347
genes like me logo Genes that share ontologies with DEFB1: view

No data available for SIGNOR curated interactions for DEFB1 Gene

Drugs & Compounds for DEFB1 Gene

(3) Drugs for DEFB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for DEFB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DEFB1: view

Transcripts for DEFB1 Gene

mRNA/cDNA for DEFB1 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(42) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB1 Gene

Defensin, beta 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB1 Gene

No ASD Table

Relevant External Links for DEFB1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB1 Gene

mRNA expression in normal human tissues for DEFB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DEFB1 Gene

This gene is overexpressed in Minor Salivary Gland (x20.7), Kidney - Cortex (x14.5), and Pancreas (x6.8).

Protein differential expression in normal tissues from HIPED for DEFB1 Gene

This gene is overexpressed in Urine (66.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DEFB1 Gene

SOURCE GeneReport for Unigene cluster for DEFB1 Gene Hs.32949

mRNA Expression by UniProt/SwissProt for DEFB1 Gene

Tissue specificity: Blood plasma (at protein level).
genes like me logo Genes that share expression patterns with DEFB1: view

Protein tissue co-expression partners for DEFB1 Gene

Primer Products

Orthologs for DEFB1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFB1 35
  • 99.51 (n)
  • 100 (a)
DEFB1 36
  • 99 (a)
(Canis familiaris)
Mammalia CBD1 36
  • 61 (a)
(Mus musculus)
Mammalia Defb1 36
  • 49 (a)
Species with no ortholog for DEFB1:
  • 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)
  • 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 DEFB1 Gene

Gene Tree for DEFB1 (if available)
Gene Tree for DEFB1 (if available)

Paralogs for DEFB1 Gene

(1) SIMAP similar genes for DEFB1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB1: view

No data available for Paralogs for DEFB1 Gene

Variants for DEFB1 Gene

Sequence variations from dbSNP and Humsavar for DEFB1 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1800967 - 6,870,745(-) TTCTG(A/C/T)CTGCC reference, missense
rs1800968 - 6,870,689(-) AGTGC(A/C/T)GCAAG reference, missense
rs2738047 - 6,870,776(-) ATTGC(A/C/G/T)TCAGC reference, missense
rs2293958 -- 6,877,778(-) CCTGC(A/T)AGAGT intron-variant
rs2293959 -- 6,877,552(-) TGCCT(A/G)CATCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB1 Gene

Variant ID Type Subtype PubMed ID
esv2422383 CNV Duplication 17116639
nsv831220 CNV Gain 17160897
nsv465436 CNV Gain 19166990
esv2752262 CNV Gain 17911159
nsv465437 CNV Gain 19166990
nsv890061 CNV Loss 21882294
dgv7656n71 CNV Gain 21882294
nsv890064 CNV Gain 21882294
dgv7657n71 CNV Gain 21882294
nsv428194 CNV Gain+Loss 18775914
nsv528374 CNV Gain 19592680
dgv2190e1 CNV Complex 17122850
essv14510 CNV CNV 17122850
dgv2191e1 CNV Complex 17122850

Variation tolerance for DEFB1 Gene

Residual Variation Intolerance Score: 89.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.34; 41.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB1 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB1 Gene

Disorders for DEFB1 Gene

MalaCards: The human disease database

(17) MalaCards diseases for DEFB1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
  • chronic tonsillitis
corneal abscess
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
pulmonary immaturity
  • primary atelectasis of newborn
- elite association - COSMIC cancer census association via MalaCards
Search DEFB1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DEFB1

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DEFB1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB1 Gene

Publications for DEFB1 Gene

  1. hBD-1: a novel beta-defensin from human plasma. (PMID: 7628632) Bensch K.W. … Forssmann W.-G. (FEBS Lett. 1995) 2 3 4 23 67
  2. The sound of silence: human beta-defensin-1 gene untranslated SNPs change the predicted mRNA secondary structure in a length-dependent manner. (PMID: 20060856) Naslavsky M.S. … Rocha C.R. (Immunol. Lett. 2010) 3 23
  3. Human beta-defensin 1: a restless warrior against allergies, infections and cancer. (PMID: 20100591) Prado-Montes de Oca E. (Int. J. Biochem. Cell Biol. 2010) 3 23
  4. Low expression of human beta-defensin 1 in duodenum of celiac patients is partially restored by a gluten-free diet. (PMID: 20128731) Intrieri M. … Nardone G. (Clin. Chem. Lab. Med. 2010) 3 23
  5. Potential role of human beta-defensin 1 in Helicobacter pylori-induced gastritis. (PMID: 18991164) Kocsis A.K. … MA!ndi Y. (Scand. J. Gastroenterol. 2009) 3 23

Products for DEFB1 Gene

Sources for DEFB1 Gene