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 enha... See more...

Aliases for DEFB124 Gene

Aliases for DEFB124 Gene

  • Defensin Beta 124 2 3 5
  • DEFB-24 2 3 4
  • Defensin, Beta 124 2 4
  • Defensin, Beta 24 2 3
  • Beta-Defensin 124 3 4
  • Beta-Defensin 24 3 4
  • DEFB124 5
  • 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. Diseases associated with DEFB124 include Macular Degeneration, Age-Related, 13 and Dermatitis, Atopic, 2. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB135.

UniProtKB/Swiss-Prot Summary for DEFB124 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB124 Gene

Genomics for DEFB124 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB124 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J031474 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 250.7 +1.3 1301 1.4 PKNOX1 PRDM4 EZH2 FOS PRDM10 CREB1 ZNF24 DEFB124 REM1 DEFB123 lnc-DEFB124-2
GH20J031513 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 19.9 -39.1 -39117 4.5 ZNF207 ZNF654 IKZF1 ZNF600 MYC SSRP1 ZNF592 ATF2 POLR2A ZNF10 HM13 ASXL1 DEFB124 TM9SF4 MCTS2P REM1 PLAGL2 piR-33614-174 ID1
GH20J031520 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 20.8 -46.4 -46360 4.6 MNT ZNF316 RBM22 JUND SPI1 POLR2A BATF ATF4 KLF1 ZNF184 piR-33614-174 DEFB124 HM13 REM1 ID1
GH20J031587 Promoter/Enhancer 1.7 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.5 -112.0 -112046 3.3 ZNF592 ZMYM3 CEBPA CHD4 MXD4 CEBPB ZFP64 HOMEZ SIN3A MAFF HM13 DEFB124 HSALNG0129500 HSALNG0129503 ID1
GH20J031546 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 8.9 -73.1 -73118 7.4 NCOR1 MYC SSRP1 JUND POLR2A BRCA1 YY1 MXD4 CEBPB SMAD5 HSALNG0129491 HSALNG0129492 HM13 TM9SF4 COX4I2 ID1 HM13-AS1 RNU6-384P DEFB124 MCTS2P
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB124 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB124

Top Transcription factor binding sites by QIAGEN in the DEFB124 gene promoter:
  • AML1a
  • c-Myc
  • Elk-1
  • Evi-1
  • HEN1
  • Max1
  • Meis-1a
  • Meis-1b

Genomic Locations for DEFB124 Gene

Latest Assembly
chr20:31,465,471-31,476,757
(GRCh38/hg38)
Size:
11,287 bases
Orientation:
Minus strand

Previous Assembly
chr20:30,053,274-30,062,930
(GRCh37/hg19 by Entrez Gene)
Size:
9,657 bases
Orientation:
Minus strand

chr20:30,053,309-30,064,560
(GRCh37/hg19 by Ensembl)
Size:
11,252 bases
Orientation:
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:
    Q8NES8-DB124_HUMAN
    Recommended name:
    Beta-defensin 124
    Protein Accession:
    Q8NES8
    Secondary Accessions:
    • Q30E74

    Protein attributes for DEFB124 Gene

    Size:
    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

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for DEFB124 Gene

InterPro:

Suggested Antigen Peptide Sequences for DEFB124 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 124 (DB124_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8NES8

UniProtKB/Swiss-Prot:

DB124_HUMAN :
  • Belongs to the beta-defensin family.
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 From GWAS Catalog for DEFB124 Gene

Gene Ontology (GO) - Molecular Function for DEFB124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
genes like me logo Genes that share ontologies with DEFB124: view
genes like me logo Genes that share phenotypes with DEFB124: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB124

No data available for Enzyme Numbers (IUBMB) , 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

Secreted.

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 DEFB124 gene
Compartment Confidence
extracellular 4
plasma membrane 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DEFB124 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
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

PathCards logo

SuperPathways for DEFB124 Gene

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

Pathways by source 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:0007249 I-kappaB kinase/NF-kappaB signaling IBA 21873635
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response IEA --
GO:0071224 cellular response to peptidoglycan IBA 21873635
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

1 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB124

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

No ASD Table

Relevant External Links for DEFB124 Gene

GeneLoc Exon Structure for
DEFB124

Expression for DEFB124 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB124

SOURCE GeneReport for Unigene cluster for DEFB124 Gene:

Hs.381373

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
Chimpanzee
(Pan troglodytes)
Mammalia DEFB124 29 30
  • 99.53 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DEFB124 30
  • 75 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CBD124 30
  • 74 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb25 30
  • 65 (a)
OneToOne
Species where no ortholog for DEFB124 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for DEFB124 (if available)
TreeFam:
Gene Tree for DEFB124 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB124: view image
Alliance of Genome Resources:
Additional Orthologs for DEFB124

Paralogs for DEFB124 Gene

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

  • DB124_HUMAN
genes like me logo Genes that share paralogs with DEFB124: view

Variants for DEFB124 Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEFB124 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for DEFB124 Gene

Human Gene Mutation Database (HGMD)
DEFB124
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB124
Leiden Open Variation Database (LOVD)
DEFB124

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DEFB124 Gene

Disorders for DEFB124 Gene

MalaCards: The human disease database

(6) MalaCards diseases for DEFB124 Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB124

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

No data available for 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
  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
  3. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. 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

Products for DEFB124 Gene

Sources for DEFB124 Gene