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Aliases for DEFB124 Gene

Aliases for DEFB124 Gene

  • Defensin Beta 124 2 3 5
  • Defensin, Beta 124 2 4
  • Defensin, Beta 24 2 3
  • Beta-Defensin 24 3 4
  • DEFB-24 3 4
  • Beta-Defensin 124 3
  • DEFB24 4

External Ids for DEFB124 Gene

Previous GeneCards Identifiers for DEFB124 Gene

  • GC20U990239
  • GC20M029801
  • GC20M030751
  • GC20M030798
  • GC20M029516
  • GC20M030053
  • GC20M026842

Summaries for DEFB124 Gene

Entrez Gene Summary for DEFB124 Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB124 Gene

DEFB124 (Defensin Beta 124) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot for DEFB124 Gene

  • Has antibacterial activity.

Additional gene information for DEFB124 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB124 Gene

Genomics for DEFB124 Gene

Regulatory Elements for DEFB124 Gene

Enhancers for DEFB124 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
GH20H031520 1.5 FANTOM5 Ensembl ENCODE dbSUPER 20.8 -46.3 -46347 4.6 HDGF KLF1 MNT BATF ZFHX2 ZNF316 ZNF184 POLR2A IKZF1 EMSY DEFB124 HM13 REM1 ENSG00000274364
GH20H031587 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10.5 -112.0 -112047 3.3 RB1 ARID4B SIN3A DMAP1 THRB RCOR1 FOS EGR2 HMG20B MXD4 HM13 DEFB124 RNU6-384P LOC105372588
GH20H031558 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9.9 -84.7 -84727 6.6 HDGF ATF1 ZFP64 ARID4B SIN3A ZNF766 ZNF143 ATF7 FOS DEK HM13 ID1 BCL2L1 COX4I2 DEFB124 MYLK2 HCK HM13-IT1 MCTS2P
GH20H031546 1.3 ENCODE dbSUPER 8.9 -73.1 -73119 7.4 PKNOX1 FOXA2 ATF1 MLX ZFP64 ARID4B SIN3A DMAP1 BRCA1 YY1 HM13 COX4I2 ID1 HM13-AS1 RNU6-384P TM9SF4 ASXL1 DEFB124 MCTS2P HM13-IT1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DEFB124 on UCSC Golden Path with GeneCards custom track

Genomic Locations for DEFB124 Gene

Genomic Locations for DEFB124 Gene
11,252 bases
Minus strand

Genomic View for DEFB124 Gene

Genes around DEFB124 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB124 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB124 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB124 Gene

Proteins for DEFB124 Gene

  • Protein details for DEFB124 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Beta-defensin 124
    Protein Accession:
    Secondary Accessions:
    • Q30E74

    Protein attributes for DEFB124 Gene

    71 amino acids
    Molecular mass:
    8058 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB124 Gene

Post-translational modifications for DEFB124 Gene

No Post-translational modifications

Other Protein References for DEFB124 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB124 Gene

Domains & Families for DEFB124 Gene

Gene Families for DEFB124 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB124 Gene


Suggested Antigen Peptide Sequences for DEFB124 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 DEFB124: view

Function for DEFB124 Gene

Molecular function for DEFB124 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes for DEFB124 Gene

genes like me logo Genes that share phenotypes with DEFB124: view

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 DEFB124 Gene

Localization for DEFB124 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB124 Gene


Subcellular locations from

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 DEFB124 gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB124 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 DEFB124: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB124 Gene

Pathways & Interactions for DEFB124 Gene

genes like me logo Genes that share pathways with DEFB124: view

Pathways by source for DEFB124 Gene

Interacting Proteins for DEFB124 Gene

Gene Ontology (GO) - Biological Process for DEFB124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IBA,IEA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB124: view

No data available for SIGNOR curated interactions for DEFB124 Gene

Drugs & Compounds for DEFB124 Gene

No Compound Related Data Available

Transcripts for DEFB124 Gene

mRNA/cDNA for DEFB124 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB124 Gene

No ASD Table

Relevant External Links for DEFB124 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DEFB124 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB124 Gene

mRNA differential expression in normal tissues according to GTEx for DEFB124 Gene

This gene is overexpressed in Testis (x6.1) and Esophagus - Gastroesophageal Junction (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of DEFB124 Gene:


SOURCE GeneReport for Unigene cluster for DEFB124 Gene:


Evidence on tissue expression from TISSUES for DEFB124 Gene

  • Heart(2.3)
genes like me logo Genes that share expression patterns with DEFB124: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB124 Gene

Orthologs for DEFB124 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB124 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DEFB124 33 34
  • 99.53 (n)
(Bos Taurus)
Mammalia DEFB124 34
  • 75 (a)
(Canis familiaris)
Mammalia CBD124 34
  • 74 (a)
(Mus musculus)
Mammalia Defb25 34
  • 65 (a)
Species where no ortholog for DEFB124 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 DEFB124 Gene

Gene Tree for DEFB124 (if available)
Gene Tree for DEFB124 (if available)

Paralogs for DEFB124 Gene

(6) SIMAP similar genes for DEFB124 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB124: view

No data available for Paralogs for DEFB124 Gene

Variants for DEFB124 Gene

Sequence variations from dbSNP and Humsavar for DEFB124 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs1000200096 -- 31,469,042(+) TAAAA(A/C)TGTTT intron-variant
rs1000330657 -- 31,469,315(+) CTACT(A/C)GGGAG intron-variant
rs1000433540 -- 31,474,165(+) TATTA(C/T)AGTTT intron-variant, upstream-variant-2KB
rs1000668277 -- 31,473,247(+) GGAAG(A/G/T)GGAGG intron-variant, upstream-variant-2KB
rs1001186369 -- 31,475,486(+) CCTAG(G/T)GTGAG intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for DEFB124 Gene

Variant ID Type Subtype PubMed ID
nsv585911 CNV gain 21841781
nsv470546 CNV gain 18288195
nsv458961 CNV gain 19166990
nsv1066091 CNV gain 25217958
esv2763228 CNV gain 21179565
dgv4300n100 CNV gain 25217958

Variation tolerance for DEFB124 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.73; 46.70% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DEFB124 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB124 Gene

Disorders for DEFB124 Gene

Relevant External Links for DEFB124

Atlas of Genetics and Cytogenetics in Oncology and Haematology:

No disorders were found for DEFB124 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB124 Gene

Publications for DEFB124 Gene

  1. Cross-species analysis of the mammalian beta-defensin gene family: presence of syntenic gene clusters and preferential expression in the male reproductive tract. (PMID: 16033865) Patil AA … Zhang G (Physiological genomics 2005) 2 3 4 60
  2. 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 60
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4 60
  4. Beta-Defensin 124 Is Required for Efficient Innate Immune Responses in Prostate Epithelial RWPE-1 Cells. (PMID: 24955228) Kim KH … Myung SC (Korean journal of urology 2014) 3 60
  5. Identification, cloning and functional characterization of novel beta-defensins in the rat (Rattus norvegicus). (PMID: 16457734) Yenugu S … Hall SH (Reproductive biology and endocrinology : RB&E 2006) 22 60

Products for DEFB124 Gene

Sources for DEFB124 Gene

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