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

Aliases for DEFB123 Gene

Aliases for DEFB123 Gene

  • Defensin Beta 123 2 3 5
  • 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
  • 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 Immune System 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

Chromosome:
20
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

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

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:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB123 Gene

Domains & Families for DEFB123 Gene

Gene Families for DEFB123 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DEFB123

miRNA for DEFB123 Gene

miRTarBase miRNAs that target 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
Jensen Localization Image for DEFB123 Gene COMPARTMENTS Subcellular localization image for DEFB123 gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB123 Gene

Pathways & Interactions for DEFB123 Gene

SuperPathways for DEFB123 Gene

Superpath Contained pathways
1 Immune System
2 Defensins
.82
genes like me logo Genes that share pathways with DEFB123: view

Pathways by source for DEFB123 Gene

4 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:0045087 innate immune response IBA --
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 :
(6) Additional mRNA sequences :
(19) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for DEFB123 Gene

Defensin, beta 123:
Representative Sequences:

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 (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



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

Protein tissue co-expression partners for DEFB123 Gene

- Elite partner

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 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

(11) 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
rs746053 -- 31,440,944(+) CTCAG(C/T)GGCTC intron-variant
rs3068536 -- 31,438,824(+) AAAAC(-/AA)GAGCA upstream-variant-2KB
rs734653 -- 31,441,551(-) GAGGC(C/G)CACTG intron-variant
rs2281554 -- 31,444,171(+) CACTT(C/T)AATAT intron-variant
rs6059357 -- 31,442,435(+) AAACA(A/C)GATAA 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

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)

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

Relevant External Links for DEFB123

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB123

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 B.C. … McCray P.B. Jr. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3 4 67
  2. Identification, characterization, and evolution of a primate beta- defensin gene cluster. (PMID: 15772680) Radhakrishnan Y. … Hall S.H. (Genes Immun. 2005) 3
  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 H.F. … Gray A.M. (Genome Res. 2003) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3

Products for DEFB123 Gene

Sources for DEFB123 Gene

Back to Top

Content