DEFB130A Gene (Protein Coding)

Defensin Beta 130A

GC08M012311
GIFtS:
17
Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov ... See more...

Aliases for DEFB130A Gene

Aliases for DEFB130A Gene

  • Defensin Beta 130A 2 3 5
  • DEFB-30 2 3 4
  • DEFB30 2 3 4
  • Defensin, Beta 130 2 4
  • Beta-Defensin 130A 3 4
  • Defensin Beta 130 2 3
  • Beta-Defensin 130 3 4
  • Beta-Defensin 30 3 4
  • DEFB130 3 4
  • Defensin, Beta 30 3
  • DEFB130L 3
  • DEFB130A 5

External Ids for DEFB130A Gene

Previous HGNC Symbols for DEFB130A Gene

  • DEFB130

Summaries for DEFB130A Gene

Entrez Gene Summary for DEFB130A Gene

  • Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 8p23. [provided by RefSeq, Nov 2014]

GeneCards Summary for DEFB130A Gene

DEFB130A (Defensin Beta 130A) is a Protein Coding gene. Diseases associated with DEFB130A include Epididymis Disease and Vitreoretinal Degeneration, Snowflake Type. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB130B.

UniProtKB/Swiss-Prot Summary for DEFB130A Gene

Additional gene information for DEFB130A Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB130A Gene

Genomics for DEFB130A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DEFB130A 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
GH08J012361 Promoter 0.9 EPDnew Ensembl 0.3 -44.3 -44284 1.6 ZIC2 NRF1 ZBTB8A ZFHX2 FAM66A piR-40666-029 ZNF705CP DEFB130A FAM86B2 lnc-ZNF705D-7
GH08J012391 Enhancer 0.4 Ensembl 0.2 -73.3 -73285 0.4 ZIC2 ATF4 CTBP1 IKZF1 DEFB109A lnc-FAM86B2-4 piR-31534-634 FAM66A FAM86B2 DEFB130A lnc-ZNF705D-7
GH08J012285 Enhancer 0.2 Ensembl 0.3 +33.3 33315 0.4 piR-51968-024 DEFB130A HSALNG0063487 lnc-ZNF705D-7 FAM86B1
GH08J012420 Promoter 0.3 Ensembl 0.2 -102.5 -102485 0.4 ALG1L12P lnc-FAM86B2-3 lnc-ZNF705D-5 FAM86B2 FAM66A DEFB130A lnc-ZNF705D-7
GH08J012231 Enhancer 0.2 Ensembl 0.2 +86.4 86415 0.2 HSALNG0063487 piR-37750-012 lnc-ZNF705D-7 FAM86B1 DEFB130A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB130A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB130A

Genomic Locations for DEFB130A Gene

Latest Assembly
chr8:12,310,962-12,318,316
(GRCh38/hg38)
Size:
7,355 bases
Orientation:
Minus strand

Previous Assembly
chr8:12,168,471-12,175,825
(GRCh37/hg19 by Entrez Gene)
Size:
7,355 bases
Orientation:
Minus strand

chr8:12,168,471-12,175,825
(GRCh37/hg19 by Ensembl)
Size:
7,355 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr8(PATCHES):1,270,186-1,277,539 (+)

Genomic View for DEFB130A Gene

Genes around DEFB130A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB130A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB130A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DEFB130A Gene

Proteins for DEFB130A Gene

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  • Protein details for DEFB130A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DP74-D130A_HUMAN
    Recommended name:
    Beta-defensin 130A
    Protein Accession:
    P0DP74
    Secondary Accessions:
    • Q30KQ2

    Protein attributes for DEFB130A Gene

    Size:
    79 amino acids
    Molecular mass:
    8736 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DEFB130A Gene

Post-translational modifications for DEFB130A Gene

No Post-translational modifications

Other Protein References for DEFB130A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB130A Gene

Domains & Families for DEFB130A Gene

Gene Families for DEFB130A Gene

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

Protein Domains for DEFB130A Gene

InterPro:

Suggested Antigen Peptide Sequences for DEFB130A Gene

GenScript: Design optimal peptide antigens:
  • Defensin, beta 130 (DB130_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P0DP74

UniProtKB/Swiss-Prot:

D130A_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB130A: view

Function for DEFB130A Gene

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  6. Cell Lines for research

Molecular function for DEFB130A Gene

UniProtKB/Swiss-Prot Function:
Antimicrobial host-defense peptide. Has an antiplasmodial activity.

Phenotypes From GWAS Catalog for DEFB130A Gene

Gene Ontology (GO) - Molecular Function for DEFB130A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031731 CCR6 chemokine receptor binding IBA 21873635
GO:0042056 chemoattractant activity IBA 21873635
genes like me logo Genes that share ontologies with DEFB130A: view

Phenotypes for DEFB130A Gene

GenomeRNAi human phenotypes for DEFB130A:
genes like me logo Genes that share phenotypes with DEFB130A: view

miRNA for DEFB130A Gene

miRTarBase miRNAs that target DEFB130A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DEFB130A Gene

Localization for DEFB130A Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB130A 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 DEFB130A gene
Compartment Confidence
cytosol 5
extracellular 3

Gene Ontology (GO) - Cellular Components for DEFB130A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA 21873635
genes like me logo Genes that share ontologies with DEFB130A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DEFB130A Gene

Pathways & Interactions for DEFB130A Gene

PathCards logo

SuperPathways for DEFB130A Gene

genes like me logo Genes that share pathways with DEFB130A: view

Pathways by source for DEFB130A Gene

Interacting Proteins for DEFB130A Gene

Gene Ontology (GO) - Biological Process for DEFB130A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006952 defense response IEA --
GO:0042742 defense response to bacterium IEA,IBA 21873635
GO:0050918 positive chemotaxis IEA --
GO:0060326 cell chemotaxis IBA 21873635
genes like me logo Genes that share ontologies with DEFB130A: view

No data available for SIGNOR curated interactions for DEFB130A Gene

Drugs & Compounds for DEFB130A Gene

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  1. Drug products for research
No Compound Related Data Available

Transcripts for DEFB130A Gene

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mRNA/cDNA for DEFB130A Gene

1 REFSEQ mRNAs :
1 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for DEFB130A Gene

No ASD Table

Relevant External Links for DEFB130A Gene

GeneLoc Exon Structure for
DEFB130A

Expression for DEFB130A Gene

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  1. Primer products for research

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DEFB130A

mRNA Expression by UniProt/SwissProt for DEFB130A Gene:

P0DP74-D130A_HUMAN
Tissue specificity: Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes.

Primer products for research

No data available for mRNA expression in normal human tissues , 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 DEFB130A Gene

Orthologs for DEFB130A Gene

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

Orthologs for DEFB130A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DEFB130 29 30
  • 99.58 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Defb41 29
  • 74.26 (n)
Mouse
(Mus musculus)
 Mammalia Defb47 29 30
  • 72.57 (n)
 OneToMany
Species where no ortholog for DEFB130A 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)
  • 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)
  • 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 DEFB130A Gene

ENSEMBL:
Gene Tree for DEFB130A (if available)
TreeFam:
Gene Tree for DEFB130A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DEFB130A: view image
Alliance of Genome Resources:
Additional Orthologs for DEFB130A

Paralogs for DEFB130A Gene

Paralogs for DEFB130A Gene

Pseudogenes.org Pseudogenes for DEFB130A Gene

genes like me logo Genes that share paralogs with DEFB130A: view

Variants for DEFB130A Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEFB130A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DEFB130A Gene

Variant ID Type Subtype PubMed ID
dgv11967n54 CNV gain 21841781
dgv1270e199 CNV deletion 23128226
dgv154e203 CNV gain+loss 21179565
dgv244e55 CNV gain 17911159
dgv27n31 CNV gain 19718026
dgv3773n106 CNV deletion 24896259
dgv7015n100 CNV gain 25217958
dgv7016n100 CNV gain 25217958
dgv7017n100 CNV gain 25217958
dgv7018n100 CNV gain+loss 25217958
dgv7019n100 CNV gain 25217958
dgv7020n100 CNV loss 25217958
dgv7021n100 CNV loss 25217958
dgv7025n100 CNV gain 25217958
dgv7026n100 CNV gain+loss 25217958
dgv7029n100 CNV gain+loss 25217958
dgv7030n100 CNV gain 25217958
dgv7031n100 CNV loss 25217958
dgv7032n100 CNV gain 25217958
dgv7033n100 CNV gain 25217958
esv22986 CNV gain+loss 19812545
esv25198 CNV gain+loss 19812545
esv2660145 CNV deletion 23128226
esv2736614 CNV deletion 23290073
esv2759593 CNV gain+loss 17122850
nsv1032964 CNV gain 25217958
nsv1034132 CNV gain 25217958
nsv1075112 CNV deletion 25765185
nsv1075529 CNV deletion 25765185
nsv1144223 CNV deletion 24896259
nsv428195 CNV gain 18775914
nsv516685 CNV gain+loss 19592680
nsv610293 CNV gain 21841781
nsv821657 CNV loss 15273396
nsv8288 CNV gain+loss 18304495
nsv831234 CNV loss 17160897
nsv951104 CNV deletion 24416366
nsv967564 CNV duplication 23825009
nsv967566 CNV duplication 23825009

Additional Variant Information for DEFB130A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB130A
Leiden Open Variation Database (LOVD)
DEFB130A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP and Variation tolerance for DEFB130A Gene

Disorders for DEFB130A Gene

MalaCards: The human disease database

(3) MalaCards diseases for DEFB130A Gene - From: COP

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for DEFB130A

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DEFB130A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DEFB130A Gene

Publications for DEFB130A Gene

  1. Involvement of β-defensin 130 (DEFB130) in the macrophage microbicidal mechanisms for killing Plasmodium falciparum. (PMID: 28181499) Terkawi MA … Kato K (Scientific reports 2017) 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 AA … Zhang G (Physiological genomics 2005) 2 3 4
  3. 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. New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing. (PMID: 25798074) Basei FL … Kobarg J (Proteome science 2015) 3
  5. Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. (PMID: 25544563) Davis ZH … Glaunsinger BA (Molecular cell 2015) 3

ExternalLinks

View latest publications for DEFB130A gene in Mastermind

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