Aliases for DEFB130B Gene

Aliases for DEFB130B Gene

  • Defensin Beta 130B 2 3 5
  • Beta-Defensin 130B 3 4
  • Defensin, Beta 130-Like 3
  • Beta-Defensin 130-Like 3
  • DEFB130B 5

External Ids for DEFB130B Gene

Summaries for DEFB130B Gene

GeneCards Summary for DEFB130B Gene

DEFB130B (Defensin Beta 130B) is a Protein Coding gene. An important paralog of this gene is DEFB130A.

UniProtKB/Swiss-Prot Summary for DEFB130B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DEFB130B Gene

Genomics for DEFB130B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DEFB130B 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
GH08J012014 Promoter 1.2 EPDnew Ensembl 0.2 +56.9 56946 1.2 ZIC2 NONO REST CTCF ZNF341 SMC3 SMARCA5 RB1 HNRNPL GLIS1 ENSG00000284610 piR-49021-009 piR-56787-002 DEFB134 DEFB131E FAM66A ENSG00000255495 FAM86B1 ENSG00000269918 ENSG00000270154
GH08J012013 Promoter 0.6 Ensembl 0.2 +57.9 57946 0.4 ZIC2 GLIS1 EGR2 ZFHX2 ENSG00000284610 piR-44970-008 piR-56787-002 FAM86B1 DEFB134 HSALNG0063476 OR7E160P DEFB130B
GH08J012017 Enhancer 0.4 Ensembl 0.2 +53.5 53540 1.6 ZNF600 OSR2 ZFHX2 ZNF335 ENSG00000269954 ENSG00000270154 piR-31470-477 piR-49021-009 OR7E160P HSALNG0063476 DEFB134 DEFB130B
GH08J012039 Enhancer 0.2 Ensembl 0.3 +31.8 31846 0.2 piR-51968-023 HSALNG0063478 DEFB130B DEFB134 HSALNG0063476
GH08J011999 Enhancer 0.2 Ensembl 0.2 +70.9 70946 0.4 DEFB134 ENSG00000255174 HSALNG0063476 LOC100421446 LOC105379245 lnc-DEFB135-1 OR7E160P DEFB130B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DEFB130B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DEFB130B

Genomic Locations for DEFB130B Gene

Latest Assembly
chr8:12,064,389-12,071,747
(GRCh38/hg38)
Size:
7,359 bases
Orientation:
Minus strand

Previous Assembly
chr8:11,921,898-11,929,256
(GRCh37/hg19 by Entrez Gene)
Size:
7,359 bases
Orientation:
Minus strand

chr8:11,921,898-11,929,256
(GRCh37/hg19 by Ensembl)
Size:
7,359 bases
Orientation:
Minus strand

Genomic View for DEFB130B Gene

Genes around DEFB130B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DEFB130B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DEFB130B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DEFB130B Gene

Proteins for DEFB130B Gene

  • Protein details for DEFB130B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P0DP73-D130B_HUMAN
    Recommended name:
    Beta-defensin 130B
    Protein Accession:
    P0DP73
    Secondary Accessions:
    • Q30KQ2

    Protein attributes for DEFB130B Gene

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

neXtProt entry for DEFB130B Gene

Post-translational modifications for DEFB130B Gene

No Post-translational modifications

Other Protein References for DEFB130B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DEFB130B Gene

Domains & Families for DEFB130B Gene

Gene Families for DEFB130B Gene

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

Protein Domains for DEFB130B Gene

InterPro:

Graphical View of Domain Structure for InterPro Entry

P0DP73

UniProtKB/Swiss-Prot:

D130B_HUMAN :
  • Belongs to the beta-defensin family.
Family:
  • Belongs to the beta-defensin family.
genes like me logo Genes that share domains with DEFB130B: view

No data available for Suggested Antigen Peptide Sequences for DEFB130B Gene

Function for DEFB130B Gene

Molecular function for DEFB130B Gene

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

Gene Ontology (GO) - Molecular Function for DEFB130B 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 DEFB130B: view

Phenotypes for DEFB130B Gene

genes like me logo Genes that share phenotypes with DEFB130B: view

Animal Models for DEFB130B Gene

MGI Knock Outs for DEFB130B:
  • Defb47 Defb47<tm1b(EUCOMM)Wtsi>

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB130B Gene

Localization for DEFB130B Gene

Subcellular locations from UniProtKB/Swiss-Prot for DEFB130B Gene

Secreted.

Gene Ontology (GO) - Cellular Components for DEFB130B 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 DEFB130B: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for DEFB130B Gene

Pathways & Interactions for DEFB130B Gene

PathCards logo

SuperPathways for DEFB130B Gene

No Data Available

Interacting Proteins for DEFB130B Gene

Gene Ontology (GO) - Biological Process for DEFB130B 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 DEFB130B: view

No data available for Pathways by source and SIGNOR curated interactions for DEFB130B Gene

Drugs & Compounds for DEFB130B Gene

No Compound Related Data Available

Transcripts for DEFB130B Gene

mRNA/cDNA for DEFB130B 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 DEFB130B Gene

No ASD Table

Relevant External Links for DEFB130B Gene

GeneLoc Exon Structure for
DEFB130B

Expression for DEFB130B Gene

mRNA Expression by UniProt/SwissProt for DEFB130B Gene:

P0DP73-D130B_HUMAN
Tissue specificity: Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes.

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 DEFB130B Gene

Orthologs for DEFB130B Gene

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

Orthologs for DEFB130B 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 16 30
  • 72.57 (n)
OneToMany
Species where no ortholog for DEFB130B 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 DEFB130B Gene

ENSEMBL:
Gene Tree for DEFB130B (if available)
TreeFam:
Gene Tree for DEFB130B (if available)
Alliance of Genome Resources:
Additional Orthologs for DEFB130B

Paralogs for DEFB130B Gene

Paralogs for DEFB130B Gene

genes like me logo Genes that share paralogs with DEFB130B: view

Variants for DEFB130B Gene

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DEFB130B 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 DEFB130B 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 DEFB130B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DEFB130B
Leiden Open Variation Database (LOVD)
DEFB130B

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 DEFB130B Gene

Disorders for DEFB130B Gene

Additional Disease Information for DEFB130B

No disorders were found for DEFB130B Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB130B Gene

Publications for DEFB130B 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. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  3. DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 4

Products for DEFB130B Gene

Sources for DEFB130B Gene