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Aliases for DEFB107A Gene

Aliases for DEFB107A Gene

  • Defensin Beta 107A 2 3 5
  • Beta-Defensin 7 3 4
  • DEFB107 3 4
  • DEFB-7 3 4
  • BD-7 3 4
  • Defensin, Beta 107A 2
  • Defensin, Beta 107 4
  • Beta-Defensin 107 3
  • 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 Defensins and Innate Immune System. An important paralog of this gene is DEFB107B.

UniProtKB/Swiss-Prot for DEFB107A Gene

  • Has antibacterial activity.

No data available for CIViC summary , 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


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

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

Inhibitory RNA Products

Clone Products

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
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 DEFB107A gene
Compartment Confidence
extracellular 5

Gene Ontology (GO) - Cellular Components for DEFB107A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with DEFB107A: view

Pathways & Interactions for DEFB107A Gene

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

Pathways by source for DEFB107A Gene

Interacting Proteins for DEFB107A Gene

Selected Interacting proteins: Q8IZN7-D107A_HUMAN for DEFB107A Gene via IID

Symbol External ID(s) Details
DEFB124

Gene Ontology (GO) - Biological Process for DEFB107A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IBA,IEA --
GO:0045087 innate immune response IBA --
genes like me logo Genes that share ontologies with DEFB107A: view

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 :

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DEFB107A Gene

NURSA nuclear receptor signaling pathways regulating expression of DEFB107A Gene:

DEFB107A

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 , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia DEFB107A 35
  • 96 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Defb13 35
  • 50 (a)
OneToMany
Species where no ortholog for DEFB107A was found in the sources mined by GeneCards:
  • 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
rs1006415216 -- 7,812,739(+) TTATC(A/C)TGTGG intron-variant
rs1006446211 -- 7,814,346(+) TAAGG(C/T)CAATG intron-variant
rs1010725238 -- 7,815,501(+) CATCT(C/T)AAAAG intron-variant
rs1013210025 -- 7,812,617(+) ACATT(C/G)TTAGG intron-variant
rs1016410242 -- 7,812,740(+) TATCA(C/T)GTGGA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1170n67 CNV loss 20364138
dgv11911n54 CNV loss 21841781
dgv11912n54 CNV loss 21841781
dgv11913n54 CNV gain 21841781
dgv11914n54 CNV gain 21841781
dgv11915n54 CNV loss 21841781
dgv11916n54 CNV loss 21841781
dgv11917n54 CNV gain 21841781
dgv11918n54 CNV loss 21841781
dgv11919n54 CNV loss 21841781
dgv11921n54 CNV loss 21841781
dgv11922n54 CNV loss 21841781
dgv11923n54 CNV loss 21841781
dgv11924n54 CNV gain 21841781
dgv11925n54 CNV loss 21841781
dgv11928n54 CNV gain 21841781
dgv11929n54 CNV loss 21841781
dgv11930n54 CNV gain 21841781
dgv11931n54 CNV loss 21841781
dgv2035e212 CNV gain 25503493
dgv25n31 CNV gain 19718026
dgv26n31 CNV gain 19718026
dgv31n14 CNV loss 18776910
dgv6882n100 CNV gain 25217958
dgv6885n100 CNV gain 25217958
dgv6887n100 CNV loss 25217958
dgv6890n100 CNV gain 25217958
dgv6894n100 CNV gain+loss 25217958
dgv6895n100 CNV loss 25217958
dgv6896n100 CNV gain+loss 25217958
dgv6898n100 CNV loss 25217958
dgv6906n100 CNV gain 25217958
dgv6907n100 CNV loss 25217958
dgv6908n100 CNV gain 25217958
dgv6909n100 CNV gain 25217958
dgv6910n100 CNV gain+loss 25217958
dgv6911n100 CNV loss 25217958
dgv6912n100 CNV loss 25217958
dgv6915n100 CNV gain 25217958
dgv6923n100 CNV gain+loss 25217958
dgv6924n100 CNV loss 25217958
dgv6925n100 CNV gain 25217958
dgv6926n100 CNV loss 25217958
dgv6927n100 CNV gain+loss 25217958
dgv6928n100 CNV gain 25217958
dgv6931n100 CNV gain+loss 25217958
dgv6932n100 CNV gain+loss 25217958
dgv6933n100 CNV loss 25217958
dgv6934n100 CNV gain+loss 25217958
dgv6935n100 CNV gain 25217958
dgv6936n100 CNV gain+loss 25217958
dgv6937n100 CNV loss 25217958
dgv6939n100 CNV gain 25217958
dgv6940n100 CNV loss 25217958
dgv6941n100 CNV gain+loss 25217958
dgv6942n100 CNV loss 25217958
dgv6943n100 CNV gain 25217958
dgv6944n100 CNV gain 25217958
dgv6945n100 CNV loss 25217958
dgv6946n100 CNV gain 25217958
dgv6947n100 CNV gain+loss 25217958
dgv6948n100 CNV gain+loss 25217958
dgv6949n100 CNV gain 25217958
dgv6950n100 CNV loss 25217958
dgv6955n100 CNV gain 25217958
dgv6958n100 CNV gain+loss 25217958
dgv6959n100 CNV loss 25217958
dgv6960n100 CNV loss 25217958
dgv6961n100 CNV gain+loss 25217958
dgv6962n100 CNV gain 25217958
dgv6963n100 CNV loss 25217958
dgv6964n100 CNV gain 25217958
esv21583 CNV gain+loss 19812545
esv25631 CNV gain+loss 19812545
esv2752265 CNV gain 17911159
esv2752266 CNV loss 17911159
esv2759589 CNV gain+loss 17122850
esv2761169 CNV gain+loss 21179565
esv2764098 CNV gain+loss 21179565
esv33606 CNV gain+loss 17666407
esv3584574 CNV gain 24956385
esv3584575 CNV gain 24956385
esv3584577 CNV gain 24956385
esv3616114 CNV loss 21293372
esv3616120 CNV loss 21293372
esv3891318 CNV gain 25118596
esv3891321 CNV gain+loss 25118596
esv3891323 CNV gain+loss 25118596
esv3891325 CNV gain 25118596
esv992071 CNV gain 20482838
esv996398 CNV gain 20482838
nsv1026778 CNV gain 25217958
nsv1029830 CNV gain 25217958
nsv1030619 CNV loss 25217958
nsv1031322 CNV loss 25217958
nsv1031577 CNV gain 25217958
nsv1031948 CNV gain+loss 25217958
nsv1075518 CNV deletion 25765185
nsv1112953 CNV deletion 24896259
nsv1133683 CNV deletion 24896259
nsv1140256 OTHER inversion 24896259
nsv396555 CNV deletion 16902084
nsv428194 CNV gain+loss 18775914
nsv433398 CNV gain 18776910
nsv442397 CNV gain 18776908
nsv469521 CNV gain+loss 16826518
nsv471650 CNV gain+loss 15918152
nsv499381 CNV loss 21111241
nsv508496 CNV deletion 20534489
nsv510977 OTHER complex 20534489
nsv515100 CNV gain 21397061
nsv515968 CNV gain+loss 19592680
nsv610065 CNV gain+loss 21841781
nsv610102 CNV gain+loss 21841781
nsv821656 CNV gain 15273396
nsv824519 CNV loss 20364138
nsv824521 CNV gain 20364138
nsv824524 CNV gain+loss 20364138
nsv8281 CNV gain+loss 18304495
nsv951092 CNV deletion 24416366
nsv951093 CNV deletion 24416366

Variation tolerance for DEFB107A Gene

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

Relevant External Links for DEFB107A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB107A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  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) 3 4 64
  3. Duplication and selection in the evolution of primate beta-defensin genes. (PMID: 12734011) Semple C.A.M. … Dorin J.R. (Genome Biol. 2003) 3 4 64
  4. 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 64
  5. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C. … Lander E.S. (Nature 2006) 4 64

Products for DEFB107A Gene

Sources for DEFB107A Gene

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