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] See more...

Aliases for DEFB112 Gene

Aliases for DEFB112 Gene

  • Defensin Beta 112 2 3 5
  • DEFB-12 2 3 4
  • Defensin, Beta 112 2 4
  • Beta-Defensin 112 3 4
  • Beta-Defensin 12 3 4
  • Defensin, Beta 12 3
  • DEFB112 5
  • 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. Diseases associated with DEFB112 include Cervical Adenitis. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot Summary for DEFB112 Gene

Additional gene information for DEFB112 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB112 Gene

Genomics for DEFB112 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB112 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
GH06J050092 Enhancer 1.2 UCNEbase ENCODE 10.5 -43.7 -43696 1.4 GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 RXRB POLR2A IRF2 LOC100505985 DEFB112 ENSG00000226733 lnc-TFAP2D-4 TFAP2D
GH06J049908 Enhancer 0.7 Ensembl ENCODE 10.2 +137.8 137814 7 ESR1 ZNF316 USF1 CTCF SIN3A MAFK SMARCA4 NANOG GATA2 GLYATL3 DEFB112 CENPQ MMUT lnc-C6orf141-5 lnc-DEFB133-1 CRISP1 DEFB114
GH06J049918 Enhancer 0.7 Ensembl ENCODE 10.2 +130.8 130828 1.4 EZH2 CTCF ZNF316 MAFF MAFK SMARCA4 BACH1 DEFB113 DEFB112 MMUT lnc-DEFB133-1 lnc-C6orf141-5 CRISP1 DEFB114
GH06J050008 Enhancer 0.5 Ensembl 11.3 +41.7 41729 0.4 CEBPB BRCA1 JUN JUND EP300 DEFB112 DEFB110 piR-38352-468 DEFB113
GH06J050086 Enhancer 0.4 ENCODE 11.6 -37.7 -37658 1.6 CTCF JUND RAD21 DEFB112 LOC100505985 ENSG00000226733 TFAP2D
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB112 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB112

Top Transcription factor binding sites by QIAGEN in the DEFB112 gene promoter:
  • c-Myc
  • Cdc5
  • ITF-2
  • Max1
  • MyoD
  • PPAR-gamma1
  • PPAR-gamma2
  • Sox5
  • Tal-1beta

Genomic Locations for DEFB112 Gene

Genomic Locations for DEFB112 Gene
chr6:50,042,099-50,049,929
(GRCh38/hg38)
Size:
7,831 bases
Orientation:
Minus strand
chr6:50,011,288-50,016,364
(GRCh37/hg19)
Size:
5,077 bases
Orientation:
Minus strand

Genomic View for DEFB112 Gene

Genes around DEFB112 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB112 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for DEFB112 Gene

No Post-translational modifications

Other Protein References for DEFB112 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB112 Gene

Domains & Families for DEFB112 Gene

Gene Families for DEFB112 Gene

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

Protein Domains for DEFB112 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB112 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 112 (DB112_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q30KQ8

UniProtKB/Swiss-Prot:

DB112_HUMAN :
  • Belongs to the beta-defensin family.
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.

Phenotypes From GWAS Catalog for DEFB112 Gene

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

Animal Model Products

  • Taconic Biosciences Mouse Models for DEFB112

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB112

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

Localization for DEFB112 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB112 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 DEFB112 gene
Compartment Confidence
extracellular 4
plasma membrane 1
nucleus 1
cytosol 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB112 Gene

Pathways & Interactions for DEFB112 Gene

PathCards logo

SuperPathways for DEFB112 Gene

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

Pathways by source for DEFB112 Gene

Gene Ontology (GO) - Biological Process for DEFB112 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 DEFB112: view

No data available for SIGNOR curated interactions for DEFB112 Gene

Drugs & Compounds for DEFB112 Gene

No Compound Related Data Available

Transcripts for DEFB112 Gene

mRNA/cDNA for DEFB112 Gene

2 REFSEQ mRNAs :
2 NCBI additional mRNA sequence :
2 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 DEFB112

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

No ASD Table

Relevant External Links for DEFB112 Gene

GeneLoc Exon Structure for
DEFB112

Expression for DEFB112 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB112 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB112

SOURCE GeneReport for Unigene cluster for DEFB112 Gene:

Hs.571092
genes like me logo Genes that share expression patterns with DEFB112: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 30 31
  • 97.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DEFB112 31
  • 43 (a)
OneToOne
Species where no ortholog for DEFB112 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)
  • 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 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 DEFB112 Gene

ENSEMBL:
Gene Tree for DEFB112 (if available)
TreeFam:
Gene Tree for DEFB112 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB112: view image

Paralogs for DEFB112 Gene

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

  • DB112_HUMAN
genes like me logo Genes that share paralogs with DEFB112: view

No data available for Paralogs for DEFB112 Gene

Variants for DEFB112 Gene

Additional dbSNP identifiers (rs#s) for DEFB112 Gene

Variation tolerance for DEFB112 Gene

Residual Variation Intolerance Score: 74.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.39; 8.62% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB112 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB112

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Structural Variations from Database of Genomic Variants (DGV) for DEFB112 Gene

Disorders for DEFB112 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFB112 Gene - From: DISEASES

Disorder Aliases PubMed IDs
cervical adenitis
  • cervical lymphadenitis
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB112

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

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

Publications for DEFB112 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. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. (PMID: 25133637) Scannell Bryan M … Ahsan H (PloS one 2014) 3
  5. A genome-wide association study of sporadic ALS in a homogenous Irish population. (PMID: 18057069) Cronin S … Hardiman O (Human molecular genetics 2008) 41

Products for DEFB112 Gene

  • Biorbyt antibodies for DEFB112
  • Signalway ELISA kits for DEFB112

Sources for DEFB112 Gene