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. Two transcript variants, one protein-... See more...

Aliases for DEFB123 Gene

Aliases for DEFB123 Gene

  • Defensin Beta 123 2 3 5
  • DEFB-23 2 3 4
  • Defensin, Beta 123 2 4
  • Beta-Defensin 123 3 4
  • Beta Defensin 23 2 3
  • DEFB23 3 4
  • Specific To Testis And Epididymis 3
  • Beta-Defensin 23 4
  • ESC42-RELD 3
  • DEFB123 5

External Ids for DEFB123 Gene

Previous GeneCards Identifiers for DEFB123 Gene

  • GC20U990238
  • GC20P029776
  • GC20P030726
  • GC20P030773
  • GC20P029492
  • GC20P030028
  • GC20P026817

Summaries for DEFB123 Gene

Entrez Gene Summary for DEFB123 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. Two transcript variants, one protein-coding and the other not, have been found for this gene. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB123 Gene

DEFB123 (Defensin Beta 123) is a Protein Coding gene. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB121.

UniProtKB/Swiss-Prot Summary for DEFB123 Gene

Additional gene information for DEFB123 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB123 Gene

Genomics for DEFB123 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB123 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
GH20J031440 Promoter 0.6 EPDnew 600.7 0.0 -5 0.1 CTCF SCRT2 XRCC5 ESRRA DEFB123 DEFB122 lnc-DEFB121-1 DEFB121
GH20J031484 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 5.4 +45.1 45058 2.4 IKZF1 JUND SP1 GABPA ZKSCAN1 PCBP1 NR2F2 RUNX1 NFIC VEZF1 LINC00028 lnc-DEFB124-2 DEFB124 HM13 DEFB123 REM1
GH20J031474 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE 6 +34.8 34844 1.4 PRDM10 CREB1 PKNOX1 PRDM4 FOS ZNF24 EZH2 DEFB124 REM1 DEFB123 lnc-DEFB124-2
GH20J031475 Promoter 0.5 Ensembl 0.3 +33.5 33469 0.2 NR3C1 ATF4 MG828730-041 REM1 piR-36393-306 piR-50417-027 piR-43583-325 DEFB124 lnc-DEFB124-2 DEFB123
GH20J031469 Enhancer 0.2 Ensembl 0.3 +28.9 28869 0.2 piR-31432-400 piR-55650-397 piR-45471-366 piR-46662-397 piR-53431-407 piR-56759-336 piR-54764-386 piR-57337-027 piR-61028-342 DEFB124
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB123 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB123

Top Transcription factor binding sites by QIAGEN in the DEFB123 gene promoter:
  • ATF6
  • c-Ets-1
  • CUTL1
  • Elk-1
  • FOXO1
  • FOXO1a
  • Pax-6
  • Sox5
  • STAT5A

Genomic Locations for DEFB123 Gene

Genomic Locations for DEFB123 Gene
chr20:31,440,632-31,450,257
(GRCh38/hg38)
Size:
9,626 bases
Orientation:
Plus strand
chr20:30,028,322-30,038,060
(GRCh37/hg19)
Size:
9,739 bases
Orientation:
Plus strand

Genomic View for DEFB123 Gene

Genes around DEFB123 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB123 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB123 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB123 Gene

Proteins for DEFB123 Gene

  • Protein details for DEFB123 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N688-DB123_HUMAN
    Recommended name:
    Beta-defensin 123
    Protein Accession:
    Q8N688
    Secondary Accessions:
    • Q5GRF8
    • Q5J5C7

    Protein attributes for DEFB123 Gene

    Size:
    67 amino acids
    Molecular mass:
    8105 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DEFB123 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEFB123 Gene

Post-translational modifications for DEFB123 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB123 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB123 Gene

Domains & Families for DEFB123 Gene

Gene Families for DEFB123 Gene

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

Protein Domains for DEFB123 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB123 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 123 (DB123_HUMAN)
  • ESC42-RELD (Q5GRF8_HUMAN)
  • Beta-defensin 123 isoform b (Q5J5C7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N688

UniProtKB/Swiss-Prot:

DB123_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB123: view

Function for DEFB123 Gene

Molecular function for DEFB123 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Phenotypes From GWAS Catalog for DEFB123 Gene

genes like me logo Genes that share phenotypes with DEFB123: view

Animal Model Products

CRISPR Products

miRNA for DEFB123 Gene

miRTarBase miRNAs that target DEFB123

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB123

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB123 Gene

Localization for DEFB123 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB123 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 DEFB123 gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for DEFB123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB123: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB123 Gene

Pathways & Interactions for DEFB123 Gene

PathCards logo

SuperPathways for DEFB123 Gene

genes like me logo Genes that share pathways with DEFB123: view

Pathways by source for DEFB123 Gene

Interacting Proteins for DEFB123 Gene

Gene Ontology (GO) - Biological Process for DEFB123 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA --
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with DEFB123: view

No data available for SIGNOR curated interactions for DEFB123 Gene

Drugs & Compounds for DEFB123 Gene

No Compound Related Data Available

Transcripts for DEFB123 Gene

mRNA/cDNA for DEFB123 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB123

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB123 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c
SP1: -
SP2:

Relevant External Links for DEFB123 Gene

GeneLoc Exon Structure for
DEFB123

Expression for DEFB123 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB123 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Testis (Reproductive System)

mRNA differential expression in normal tissues according to GTEx for DEFB123 Gene

This gene is overexpressed in Testis (x52.8).

Protein differential expression in normal tissues from HIPED for DEFB123 Gene

This gene is overexpressed in Testis (63.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DEFB123 Gene



Protein tissue co-expression partners for DEFB123 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB123

SOURCE GeneReport for Unigene cluster for DEFB123 Gene:

Hs.122509

mRNA Expression by UniProt/SwissProt for DEFB123 Gene:

Q8N688-DB123_HUMAN
Tissue specificity: Abundant expression in the male reproductive tract only. Abundant expressed in testis and the caput region of epididymis, but low in the corpus region.
genes like me logo Genes that share expression patterns with DEFB123: view

Primer Products

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DEFB123 Gene

Orthologs for DEFB123 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB123 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB123 30 31
  • 100 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Defb36 31
  • 75 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia CBD123 31
  • 75 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia DEFB123 31
  • 67 (a)
OneToOne
Species where no ortholog for DEFB123 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 DEFB123 Gene

ENSEMBL:
Gene Tree for DEFB123 (if available)
TreeFam:
Gene Tree for DEFB123 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB123: view image

Paralogs for DEFB123 Gene

(11) SIMAP similar genes for DEFB123 Gene using alignment to 3 proteins:

  • DB123_HUMAN
  • Q5GRF8_HUMAN
  • Q5J5C7_HUMAN

Pseudogenes.org Pseudogenes for DEFB123 Gene

genes like me logo Genes that share paralogs with DEFB123: view

Variants for DEFB123 Gene

Additional dbSNP identifiers (rs#s) for DEFB123 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB123 Gene

Variant ID Type Subtype PubMed ID
dgv1241e212 CNV loss 25503493
dgv4300n100 CNV gain 25217958
esv2763228 CNV gain 21179565
esv3306427 CNV mobile element insertion 20981092
esv3426863 CNV insertion 20981092
nsv1066091 CNV gain 25217958
nsv458961 CNV gain 19166990
nsv470546 CNV gain 18288195
nsv585910 CNV gain 21841781
nsv585911 CNV gain 21841781

Variation tolerance for DEFB123 Gene

Residual Variation Intolerance Score: 53.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.02; 0.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB123 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB123

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 DEFB123 Gene

Disorders for DEFB123 Gene

No disorders were found for DEFB123 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB123 Gene

Publications for DEFB123 Gene

  1. 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
  2. Identification, characterization, and evolution of a primate beta-defensin gene cluster. (PMID: 15772680) Radhakrishnan Y … Hall SH (Genes and immunity 2005) 3 4
  3. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4
  4. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P … Rogers J (Nature 2001) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4

Products for DEFB123 Gene

Sources for DEFB123 Gene