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. Two transcript variants encoding different isofor... See more...

Aliases for DEFB110 Gene

Aliases for DEFB110 Gene

  • Defensin Beta 110 2 3 5
  • DEFB-10 2 3 4
  • DEFB-11 2 3 4
  • DEFB111 2 3 4
  • Defensin, Beta 110 Locus 2 3
  • Defensin, Beta 110 2 4
  • Beta-Defensin 110 3 4
  • Beta-Defensin 111 3 4
  • Beta-Defensin 10 3 4
  • Beta-Defensin 11 3 4
  • Defensin, Beta 111 4
  • Defensin, Beta 10 3
  • DEFB110 5
  • DEFB10 4
  • DEFB11 4

External Ids for DEFB110 Gene

Previous GeneCards Identifiers for DEFB110 Gene

  • GC06U990313
  • GC06M050084
  • GC06M049976
  • GC06M049708

Summaries for DEFB110 Gene

Entrez Gene Summary for DEFB110 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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB110 Gene

DEFB110 (Defensin Beta 110) is a Protein Coding gene. Diseases associated with DEFB110 include Spinal Muscular Atrophy, Distal, X-Linked 3. Among its related pathways are Defensins and Innate Immune System.

UniProtKB/Swiss-Prot Summary for DEFB110 Gene

Additional gene information for DEFB110 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB110 Gene

Genomics for DEFB110 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB110 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
GH06J050021 Promoter 0.3 EPDnew 600.7 0.0 -20 0.1 DEFB110 piR-37895-144 DEFB112
GH06J050030 Enhancer 0.7 ENCODE 0.4 -9.1 -9069 0.2 CREB1 CTCF SOX13 FOXA1 PKNOX1 REST POLR2A SOX6 CBX3 MTA3 DEFB110 piR-37895-144 DEFB112
GH06J050008 Enhancer 0.5 Ensembl 0.4 +13.8 13794 0.4 CEBPB BRCA1 JUN JUND EP300 DEFB112 DEFB110 piR-38352-468 DEFB113
GH06J049969 Enhancer 0.3 Ensembl 0.2 +52.3 52293 0.2 ZNF316 DEFB113 piR-38352-468 DEFB110
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB110 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB110

Top Transcription factor binding sites by QIAGEN in the DEFB110 gene promoter:
  • Cart-1
  • CUTL1
  • Ik-3
  • Lhx3a
  • LHX3b
  • Sox9

Genomic Locations for DEFB110 Gene

Genomic Locations for DEFB110 Gene
chr6:50,009,138-50,021,994
(GRCh38/hg38)
Size:
12,857 bases
Orientation:
Minus strand
chr6:49,976,851-49,989,694
(GRCh37/hg19)
Size:
12,844 bases
Orientation:
Minus strand

Genomic View for DEFB110 Gene

Genes around DEFB110 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB110 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB110 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB110 Gene

Proteins for DEFB110 Gene

  • Protein details for DEFB110 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q30KQ9-DB110_HUMAN
    Recommended name:
    Beta-defensin 110
    Protein Accession:
    Q30KQ9
    Secondary Accessions:
    • Q30KR0

    Protein attributes for DEFB110 Gene

    Size:
    67 amino acids
    Molecular mass:
    8001 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DEFB110 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DEFB110 Gene

Post-translational modifications for DEFB110 Gene

No Post-translational modifications

Other Protein References for DEFB110 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB110 Gene

Domains & Families for DEFB110 Gene

Gene Families for DEFB110 Gene

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

Protein Domains for DEFB110 Gene

InterPro:
Blocks:
  • Beta defensin
ProtoNet:

Suggested Antigen Peptide Sequences for DEFB110 Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 111 (DB110_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q30KQ9

UniProtKB/Swiss-Prot:

DB110_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB110: view

Function for DEFB110 Gene

Molecular function for DEFB110 Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.
genes like me logo Genes that share phenotypes with DEFB110: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DEFB110

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB110 Gene

Localization for DEFB110 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB110 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 DEFB110 gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for DEFB110 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB110: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB110 Gene

Pathways & Interactions for DEFB110 Gene

PathCards logo

SuperPathways for DEFB110 Gene

genes like me logo Genes that share pathways with DEFB110: view

Pathways by source for DEFB110 Gene

Gene Ontology (GO) - Biological Process for DEFB110 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 DEFB110: view

No data available for SIGNOR curated interactions for DEFB110 Gene

Drugs & Compounds for DEFB110 Gene

No Compound Related Data Available

Transcripts for DEFB110 Gene

mRNA/cDNA for DEFB110 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 DEFB110

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB110 Gene

No ASD Table

Relevant External Links for DEFB110 Gene

GeneLoc Exon Structure for
DEFB110

Expression for DEFB110 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DEFB110 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB110

SOURCE GeneReport for Unigene cluster for DEFB110 Gene:

Hs.571093
genes like me logo Genes that share expression patterns with DEFB110: view

Primer Products

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 DEFB110 Gene

Orthologs for DEFB110 Gene

This gene was present in the common ancestor of mammals.

Orthologs for DEFB110 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DEFB110 30 31
  • 98.01 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia DEFB110 30
  • 87.56 (n)
CBD111 31
  • 78 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Defb17 30
  • 83.59 (n)
Cow
(Bos Taurus)
Mammalia DEFB110 30
  • 83.08 (n)
Mouse
(Mus musculus)
Mammalia Gm15386 31
  • 69 (a)
OneToOne
Species where no ortholog for DEFB110 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)
  • 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 DEFB110 Gene

ENSEMBL:
Gene Tree for DEFB110 (if available)
TreeFam:
Gene Tree for DEFB110 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB110: view image

Paralogs for DEFB110 Gene

(6) SIMAP similar genes for DEFB110 Gene using alignment to 1 proteins:

  • DB110_HUMAN
genes like me logo Genes that share paralogs with DEFB110: view

No data available for Paralogs for DEFB110 Gene

Variants for DEFB110 Gene

Additional dbSNP identifiers (rs#s) for DEFB110 Gene

Structural Variations from Database of Genomic Variants (DGV) for DEFB110 Gene

Variant ID Type Subtype PubMed ID
nsv5295 CNV deletion 18451855

Variation tolerance for DEFB110 Gene

Residual Variation Intolerance Score: 55.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.18; 4.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DEFB110 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB110

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 DEFB110 Gene

Disorders for DEFB110 Gene

MalaCards: The human disease database

(1) MalaCards diseases for DEFB110 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinal muscular atrophy, distal, x-linked 3
  • smax3
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB110

genes like me logo Genes that share disorders with DEFB110: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB110 Gene

Publications for DEFB110 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
  3. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 4
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3

Products for DEFB110 Gene

Sources for DEFB110 Gene