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Aliases for DEFB112 Gene

Aliases for DEFB112 Gene

  • Defensin, Beta 112 2 3 4
  • Beta-Defensin 12 3 4
  • DEFB-12 3 4
  • Beta-Defensin 112 3
  • Defensin, Beta 12 3
  • DEFB12 4

External Ids for DEFB112 Gene

Previous GeneCards Identifiers for DEFB112 Gene

  • GC06U990315
  • GC06M050007
  • GC06M050058
  • GC06M050119
  • GC06M049742

Summaries for DEFB112 Gene

Entrez Gene Summary for DEFB112 Gene

  • Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB112 Gene

DEFB112 (Defensin, Beta 112) is a Protein Coding gene. Among its related pathways are Defensins and Defensins.

UniProtKB/Swiss-Prot for DEFB112 Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB112 Gene

Genomics for DEFB112 Gene

Regulatory Elements for DEFB112 Gene

Genomic Location for DEFB112 Gene

Start:
50,043,575 bp from pter
End:
50,048,651 bp from pter
Size:
5,077 bases
Orientation:
Minus strand

Genomic View for DEFB112 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DEFB112 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB112 Gene

Proteins for DEFB112 Gene

  • Protein details for DEFB112 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KQ8-DB112_HUMAN
    Recommended name:
    Beta-defensin 112
    Protein Accession:
    Q30KQ8
    Secondary Accessions:
    • Q8NET0

    Protein attributes for DEFB112 Gene

    Size:
    113 amino acids
    Molecular mass:
    12991 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB112 Gene

Proteomics data for DEFB112 Gene at MOPED

Post-translational modifications for DEFB112 Gene

No Post-translational modifications

Other Protein References for DEFB112 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB112 Gene

Domains for DEFB112 Gene

Gene Families for DEFB112 Gene

HGNC:
  • DEFB :Defensins, beta

Protein Domains for DEFB112 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB112 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q30KQ8

UniProtKB/Swiss-Prot:

DB112_HUMAN :
  • Q30KQ8
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB112: view

Function for DEFB112 Gene

Molecular function for DEFB112 Gene

UniProtKB/Swiss-Prot Function: Has antibacterial activity.

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB112

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for DEFB112 Gene

Localization for DEFB112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB112 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB112 Gene COMPARTMENTS Subcellular localization image for DEFB112 gene
Compartment Confidence
cytosol 2
extracellular 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DEFB112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB112: view

Pathways for DEFB112 Gene

SuperPathways for DEFB112 Gene

Superpath Contained pathways
1 Defensins
.80
genes like me logo Genes that share pathways with DEFB112: view

Pathways by source for DEFB112 Gene

2 Reactome pathways for DEFB112 Gene

Interacting Proteins for DEFB112 Gene

Gene Ontology (GO) - Biological Process for DEFB112 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042742 defense response to bacterium IEA --
genes like me logo Genes that share ontologies with DEFB112: view

Transcripts for DEFB112 Gene

mRNA/cDNA for DEFB112 Gene

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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DEFB112

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DEFB112
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB112 Gene

No ASD Table

Relevant External Links for DEFB112 Gene

GeneLoc Exon Structure for
DEFB112
ECgene alternative splicing isoforms for
DEFB112

Expression for DEFB112 Gene

mRNA expression in normal human tissues for DEFB112 Gene

SOURCE GeneReport for Unigene cluster for DEFB112 Gene Hs.571092

genes like me logo Genes that share expressions with DEFB112: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for DEFB112 Gene

Orthologs for DEFB112 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB112 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DEFB112 35
  • 97.94 (n)
  • 96.46 (a)
DEFB112 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DEFB112 36
  • 43 (a)
OneToOne
Species with no ortholog for DEFB112:
  • 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)
  • dog (Canis familiaris)
  • 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)
  • mouse (Mus musculus)
  • 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 DEFB112 Gene

ENSEMBL:
Gene Tree for DEFB112 (if available)
TreeFam:
Gene Tree for DEFB112 (if available)

Paralogs for DEFB112 Gene

Selected SIMAP similar genes for DEFB112 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with DEFB112: view

No data available for Paralogs for DEFB112 Gene

Variants for DEFB112 Gene

Sequence variations from dbSNP and Humsavar for DEFB112 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type MAF
rs582561 -- 50,047,370(-) tgacc(A/G)tagaa intron-variant
rs599634 -- 50,045,950(-) tattt(A/G)taata intron-variant
rs613581 -- 50,045,061(-) TGCTG(G/T)CTCCT intron-variant
rs628337 -- 50,044,083(-) AATGT(A/G)CAAGA intron-variant
rs628851 -- 50,047,930(-) gacct(C/G)aggtg intron-variant

Relevant External Links for DEFB112 Gene

HapMap Linkage Disequilibrium report
DEFB112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for DEFB112 Gene

Disorders for DEFB112 Gene

Relevant External Links for DEFB112

Genetic Association Database (GAD)
DEFB112
genes like me logo Genes that share disorders with DEFB112: view

No data available for UniProtKB/Swiss-Prot for DEFB112 Gene

Publications for DEFB112 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. 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 A.A. … Zhang G. (Physiol. Genomics 2005) 2 3 4
  3. Genome-wide association with bone mass and geometry in the Framingham Heart Study. (PMID: 17903296) Kiel D.P. … Karasik D. (BMC Med. Genet. 2007) 48
  4. Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project. (PMID: 17903300) Fox C.S. … Atwood L.D. (BMC Med. Genet. 2007) 48
  5. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PMID: 18057069) Cronin S. … Hardiman O. (Hum. Mol. Genet. 2008) 48

Products for DEFB112 Gene

Sources for DEFB112 Gene

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