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Aliases for DEFB123 Gene

Aliases for DEFB123 Gene

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

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 Defensins.

UniProtKB/Swiss-Prot for DEFB123 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB123 Gene

Genomics for DEFB123 Gene

Regulatory Elements for DEFB123 Gene

Genomic Location for DEFB123 Gene

Start:
31,440,519 bp from pter
End:
31,450,257 bp from pter
Size:
9,739 bases
Orientation:
Plus strand

Genomic View for DEFB123 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DEFB123 Gene at MOPED

Post-translational modifications for DEFB123 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DEFB123 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB123 Gene

Domains for DEFB123 Gene

Gene Families for DEFB123 Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB123 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB123 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N688

UniProtKB/Swiss-Prot:

DB123_HUMAN :
  • Q8N688
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.

Animal Model Products

miRNA for DEFB123 Gene

miRTarBase miRNAs that target DEFB123

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB123

In Situ Assay Products

Flow Cytometry Products

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

Localization for DEFB123 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB123 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB123 Gene COMPARTMENTS Subcellular localization image for DEFB123 gene
Compartment Confidence
extracellular 3

Gene Ontology (GO) - Cellular Components for DEFB123 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 DEFB123: view

Pathways for DEFB123 Gene

SuperPathways for DEFB123 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB123: view

Pathways by source for DEFB123 Gene

2 Reactome pathways 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:0042742 defense response to bacterium IBA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB123: view

Transcripts for DEFB123 Gene

mRNA/cDNA for DEFB123 Gene

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

Unigene Clusters for DEFB123 Gene

Defensin, beta 123:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB123

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
DEFB123

Expression for DEFB123 Gene

mRNA expression in normal human tissues for DEFB123 Gene

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

This gene is overexpressed in Testis (52.8).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for DEFB123 Gene

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 expressions with DEFB123: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 100 (n)
  • 100 (a)
DEFB123 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEFB123 36
  • 67 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CBD123 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Defb36 16
Defb36 36
  • 75 (a)
OneToOne
Species with no ortholog for DEFB123:
  • 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 DEFB123 Gene

ENSEMBL:
Gene Tree for DEFB123 (if available)
TreeFam:
Gene Tree for DEFB123 (if available)

Paralogs for DEFB123 Gene

Selected SIMAP similar genes for DEFB123 Gene using alignment to 3 proteins:

Pseudogenes.org Pseudogenes for DEFB123 Gene

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

No data available for Paralogs for DEFB123 Gene

Variants for DEFB123 Gene

Sequence variations from dbSNP and Humsavar for DEFB123 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs734653 -- 31,441,551(-) GAGGC(C/G)CACTG intron-variant
rs746053 -- 31,440,944(+) CTCAG(C/T)GGCTC intron-variant
rs1075852 -- 31,441,169(+) CTCTG(A/C)GCTGG intron-variant
rs2021931 -- 31,450,572(+) tatat(A/T)ttttt downstream-variant-500B
rs2236172 -- 31,441,509(+) GAGGC(A/G)GGGGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv470546 CNV Gain 18288195
nsv458961 CNV Gain 19166990
nsv912835 CNV Gain 21882294
esv270703 CNV Insertion 20981092

Relevant External Links for DEFB123 Gene

HapMap Linkage Disequilibrium report
DEFB123

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DEFB123 Gene

Disorders for DEFB123 Gene

No disorders were found for DEFB123 Gene.

No data available for UniProtKB/Swiss-Prot for DEFB123 Gene

Publications for DEFB123 Gene

  1. Discovery of five conserved beta-defensin gene clusters using a computational search strategy. (PMID: 11854508) Schutte B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4
  3. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PMID: 15772680) Radhakrishnan Y. … Hall S.H. (Genes Immun. 2005) 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 D.S. … Malek J. (Genome Res. 2004) 4

Products for DEFB123 Gene

Sources for DEFB123 Gene

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