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Aliases for DEFB107A Gene

Aliases for DEFB107A Gene

  • Defensin Beta 107A 2 3 5
  • Defensin, Beta 107A 2 3
  • Beta-Defensin 7 3 4
  • DEFB107 3 4
  • DEFB-7 3 4
  • BD-7 3 4
  • Defensin, Beta 107 4
  • DEFB107A DEFB107B 4
  • Defensin, Beta 7 3
  • DEFB7 4

External Ids for DEFB107A Gene

Previous HGNC Symbols for DEFB107A Gene

  • DEFB107

Previous GeneCards Identifiers for DEFB107A Gene

  • GC08U900542
  • GC08M007709
  • GC08M007673

Summaries for DEFB107A Gene

Entrez Gene Summary for DEFB107A 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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]

GeneCards Summary for DEFB107A Gene

DEFB107A (Defensin Beta 107A) is a Protein Coding gene. Among its related pathways are Immune System and Defensins. An important paralog of this gene is DEFB107B.

UniProtKB/Swiss-Prot for DEFB107A Gene

  • Has antibacterial activity.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB107A Gene

Genomics for DEFB107A Gene

Regulatory Elements for DEFB107A Gene

Enhancers for DEFB107A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around DEFB107A on UCSC Golden Path with GeneCards custom track

Genomic Location for DEFB107A Gene

Chromosome:
8
Start:
7,811,720 bp from pter
End:
7,815,716 bp from pter
Size:
3,997 bases
Orientation:
Minus strand

Genomic View for DEFB107A Gene

Genes around DEFB107A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB107A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB107A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB107A Gene

Proteins for DEFB107A Gene

  • Protein details for DEFB107A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZN7-D107A_HUMAN
    Recommended name:
    Beta-defensin 107
    Protein Accession:
    Q8IZN7
    Secondary Accessions:
    • B2RPM1
    • Q30E75
    • Q8NET2

    Protein attributes for DEFB107A Gene

    Size:
    70 amino acids
    Molecular mass:
    7846 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAZ81951.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DEFB107A Gene

Proteomics data for DEFB107A Gene at MOPED

Post-translational modifications for DEFB107A Gene

No Post-translational modifications

Other Protein References for DEFB107A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB107A Gene

Domains & Families for DEFB107A Gene

Gene Families for DEFB107A Gene

Protein Domains for DEFB107A Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8IZN7

UniProtKB/Swiss-Prot:

D107A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB107A: view

No data available for Suggested Antigen Peptide Sequences for DEFB107A Gene

Function for DEFB107A Gene

Molecular function for DEFB107A Gene

UniProtKB/Swiss-Prot Function:
Has antibacterial activity.

Animal Model Products

miRNA for DEFB107A Gene

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB107A Gene

Localization for DEFB107A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB107A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DEFB107A Gene COMPARTMENTS Subcellular localization image for DEFB107A gene
Compartment Confidence
extracellular 5

No data available for Gene Ontology (GO) - Cellular Components for DEFB107A Gene

Pathways & Interactions for DEFB107A Gene

SuperPathways for DEFB107A Gene

Superpath Contained pathways
1 Defensins
.82
2 Immune System
genes like me logo Genes that share pathways with DEFB107A: view

Pathways by source for DEFB107A Gene

4 Reactome pathways for DEFB107A Gene

Interacting Proteins for DEFB107A Gene

Gene Ontology (GO) - Biological Process for DEFB107A Gene

None

No data available for SIGNOR curated interactions for DEFB107A Gene

Drugs & Compounds for DEFB107A Gene

No Compound Related Data Available

Transcripts for DEFB107A Gene

mRNA/cDNA for DEFB107A Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB107A Gene

No ASD Table

Relevant External Links for DEFB107A Gene

GeneLoc Exon Structure for
DEFB107A
ECgene alternative splicing isoforms for
DEFB107A

Expression for DEFB107A Gene

mRNA expression in normal human tissues for DEFB107A Gene

mRNA Expression by UniProt/SwissProt for DEFB107A Gene

Q8IZN7-D107A_HUMAN
Tissue specificity: Specifically expressed in testis.
genes like me logo Genes that share expression patterns with DEFB107A: 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 and Protein tissue co-expression partners for DEFB107A Gene

Orthologs for DEFB107A Gene

This gene was present in the common ancestor of human and mouse.

Orthologs for DEFB107A Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Defb13 36
  • 50 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia DEFB107A 36
  • 96 (a)
OneToMany
Species with no ortholog for DEFB107A:
  • 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)
  • cow (Bos Taurus)
  • 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)
  • 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 DEFB107A Gene

ENSEMBL:
Gene Tree for DEFB107A (if available)
TreeFam:
Gene Tree for DEFB107A (if available)

Paralogs for DEFB107A Gene

Paralogs for DEFB107A Gene

genes like me logo Genes that share paralogs with DEFB107A: view

Variants for DEFB107A Gene

Sequence variations from dbSNP and Humsavar for DEFB107A Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2680425 -- 7,815,786(-) CACAT(C/T)AATCA upstream-variant-2KB
rs2680427 -- 7,813,648(-) GATCT(C/G)AGTGC intron-variant
rs2680428 -- 7,813,128(-) TAAAA(A/C)TGACT intron-variant
rs2680431 -- 7,811,367(-) GTATA(A/C)CTGCT downstream-variant-500B
rs2737474 -- 7,812,801(-) CTAAG(C/T)CCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DEFB107A Gene

Variant ID Type Subtype PubMed ID
nsv428194 CNV Gain+Loss 18775914
dgv2191e1 CNV Complex 17122850
nsv515968 CNV Gain+Loss 19592680
nsv821656 CNV Gain 15273396
dgv2192e1 CNV Complex 17122850
esv2736558 CNV Deletion 23290073
nsv510977 CNV Complex 20534489
dgv2193e1 CNV Complex 17122850
dgv7659n71 CNV Gain 21882294
esv21583 CNV Gain+Loss 19812545
nsv890078 CNV Gain 21882294
esv33606 CNV Gain+Loss 17666407
dgv7661n71 CNV Gain 21882294
dgv7662n71 CNV Gain 21882294
nsv8281 CNV Gain+Loss 18304495
dgv7663n71 CNV Loss 21882294
dgv7664n71 CNV Loss 21882294
nsv471650 CNV Gain+Loss 15918152
dgv2195e1 CNV Complex 17122850
dgv7666n71 CNV Gain 21882294
dgv7667n71 CNV Gain+Loss 21882294
dgv7668n71 CNV Gain 21882294
dgv7669n71 CNV Gain 21882294
dgv7670n71 CNV Loss 21882294
dgv7672n71 CNV Gain+Loss 21882294
dgv7673n71 CNV Gain+Loss 21882294
esv996398 CNV Gain 20482838
nsv890110 CNV Gain 21882294
esv2752265 CNV Gain 17911159
nsv824519 CNV Loss 20364138
nsv824521 CNV Gain 20364138
nsv515100 CNV Complex 21397061
dgv31n14 CNV Loss 18776910
dgv7675n71 CNV Loss 21882294
nsv890153 CNV Loss 21882294
nsv442397 CNV CNV 18776908
nsv469521 CNV Complex 16826518
dgv7677n71 CNV Gain+Loss 21882294
dgv7678n71 CNV Gain 21882294
dgv7679n71 CNV Gain 21882294
dgv25n31 CNV Duplication 19718026
dgv7680n71 CNV Loss 21882294
dgv7681n71 CNV Gain 21882294
esv2752266 CNV Loss 17911159
nsv890230 CNV Gain+Loss 21882294
nsv890228 CNV Gain 21882294
nsv508496 CNV Loss 20534489
nsv499381 CNV Loss 21111241
nsv396555 CNV Loss 16902084
dgv7682n71 CNV Gain 21882294
esv25631 CNV Gain+Loss 19812545
nsv890256 CNV Gain+Loss 21882294
dgv7683n71 CNV Gain+Loss 21882294
dgv7684n71 CNV Loss 21882294
dgv7685n71 CNV Gain 21882294
nsv890270 CNV Loss 21882294
dgv7686n71 CNV Gain 21882294
dgv7687n71 CNV Gain 21882294
esv992071 CNV Gain 20482838
dgv7688n71 CNV Gain 21882294
dgv7689n71 CNV Gain 21882294
nsv433398 CNV Gain 18776910
dgv7690n71 CNV Gain+Loss 21882294
dgv7691n71 CNV Gain 21882294
dgv26n31 CNV Duplication 19718026
dgv1170n67 CNV Loss 20364138
nsv824524 CNV Gain+Loss 20364138

Variation tolerance for DEFB107A Gene

Gene Damage Index Score: 0.06; 1.33% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for DEFB107A Gene

Disorders for DEFB107A Gene

Relevant External Links for DEFB107A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DEFB107A

No disorders were found for DEFB107A Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB107A Gene

Publications for DEFB107A 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. Narrowing down the distal border of the copy number variable beta-defensin gene cluster on human 8p23. (PMID: 24552181) Taudien S. … Platzer M. (BMC Res Notes 2014) 3
  3. 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) 3
  4. Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence. (PMID: 15588320) Taudien S. … Platzer M. (BMC Genomics 2004) 3
  5. Evidence for duplication of the human defensin gene DEFB4 in chromosomal region 8p22-23 and implications for the analysis of SNP allele distribution. (PMID: 15727258) Boniotto M. … Gallagher G. (Genet. Test. 2004) 3

Products for DEFB107A Gene

Sources for DEFB107A Gene

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