Aliases for DEFB130A Gene
Aliases for DEFB130A Gene
External Ids for DEFB130A Gene
- HGNC: 18107
- Entrez Gene: 245940
- Ensembl: ENSG00000232948
- UniProtKB: P0DP74
Previous HGNC Symbols for DEFB130A Gene
- DEFB130
Summaries 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. Among its related pathways are Defensins and Innate Immune System. An important paralog of this gene is DEFB130B.
UniProtKB/Swiss-Prot for DEFB130A Gene
-
Antimicrobial host-defense peptide. Has an antiplasmodial activity.
Additional gene information for DEFB130A Gene
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DEFB130A Gene
Genomics for DEFB130A Gene
Regulatory Element Products
Genomic Locations for DEFB130A Gene
Genomic Locations for DEFB130A Gene
- chr8:12,310,962-12,318,316
- (GRCh38/hg38)
- Size:
- 7,355 bases
- Orientation:
- Minus strand
- chr8:12,168,471-12,175,825
- (GRCh37/hg19)
- Size:
- 7,355 bases
- Orientation:
- Minus strand
Genomic View for DEFB130A Gene
Genes around DEFB130A on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p23.1 by Entrez Gene
- 8p23.1 by HGNC
- 8p23.1 by Ensembl
DEFB130A Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for DEFB130A Gene
No data available for GeneHancer (GH) Regulatory Elements for DEFB130A Gene
Proteins for DEFB130A Gene
-
Protein details for DEFB130A Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P0DP74-D130A_HUMAN
- Recommended name:
- Beta-defensin 130A
- Protein Accession:
- P0DP74
- Q30KQ2
Protein attributes for DEFB130A Gene
- Size:
- 79 amino acids
- Molecular mass:
- 8736 Da
- Quaternary structure:
- No Data Available
Post-translational modifications for DEFB130A Gene
No Post-translational modifications
Other Protein References for DEFB130A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Search GeneTex for Antibodies for DEFB130A
Protein Products
-
OriGene Purified Proteins for DEFB130A
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Assay Products
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:
- ProtoNet:
Suggested Antigen Peptide Sequences for DEFB130A Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P0DP74- Family:
-
- Belongs to the beta-defensin family.
Function for DEFB130A Gene
Molecular function for DEFB130A Gene
- UniProtKB/Swiss-Prot Function:
- Antimicrobial host-defense peptide. Has an antiplasmodial activity.
Phenotypes From GWAS Catalog for DEFB130A Gene
Phenotypes for DEFB130A Gene
- GenomeRNAi human phenotypes for DEFB130A:
Animal Model Products
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-
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-
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No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DEFB130A Gene
Localization for DEFB130A Gene
Subcellular locations from UniProtKB/Swiss-Prot for DEFB130A Gene
- Secreted.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for DEFB130A Gene
Pathways & Interactions for DEFB130A Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Defensins |
.82
.82
|
|
| 2 | Innate Immune System |
.61
|
|
Pathways by source for DEFB130A Gene
5 Reactome pathways for DEFB130A Gene
Interacting Proteins for DEFB130A Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006952 | defense response | IEA | -- |
| GO:0042742 | defense response to bacterium | IEA | -- |
No data available for SIGNOR curated interactions for DEFB130A Gene
Transcripts for DEFB130A Gene
mRNA/cDNA for DEFB130A Gene
- (1) REFSEQ mRNAs :
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000400079 240 bps (uc003wvn.1)
CRISPR Products
-
OriGene CRISPR knockouts for DEFB130A
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-
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Expression for DEFB130A Gene
NURSA nuclear receptor signaling pathways regulating expression of DEFB130A Gene:
DEFB130AmRNA Expression by UniProt/SwissProt for DEFB130A Gene:
P0DP74-D130A_HUMAN
Tissue specificity:
Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes.
Primer Products
-
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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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DEFB130 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Defb41 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Defb47 34 33 |
|
OneToMany |
- Species where no ortholog for DEFB130A 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)
- 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 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
Paralogs for DEFB130A Gene
Paralogs for DEFB130A Gene
Pseudogenes.org Pseudogenes for DEFB130A Gene
Variants for DEFB130A Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000305354 | -- | 12,315,392(-) | G/C | intron_variant | |
| rs1000655820 | -- | 12,314,985(-) | G/T | intron_variant | |
| rs1001259237 | -- | 12,316,725(-) | C/A/G | intron_variant | |
| rs1001711686 | -- | 12,316,907(-) | C/T | intron_variant | |
| rs1002311261 | -- | 12,318,679(-) | TGTTTTTTTTTGTTTTGTTTT/TGTTTT | upstream_transcript_variant |
Additional Variant Information for DEFB130A Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- DEFB130A
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for DEFB130A Gene
Disorders for DEFB130A Gene
Additional Disease Information for DEFB130A
No disorders were found for DEFB130A Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for DEFB130A Gene
Publications for DEFB130A Gene
- 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 58
- 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 58
- 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 58
- Global mapping of herpesvirus-host protein complexes reveals a transcription strategy for late genes. (PMID: 25544563) Davis ZH … Glaunsinger BA (Molecular cell 2015) 3 58
- DNA sequence and analysis of human chromosome 8. (PMID: 16421571) Nusbaum C … Lander ES (Nature 2006) 4 58
Products for DEFB130A Gene
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Sources for DEFB130A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
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- (68) Cloud-Clone Corp.
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- (73) Reactome
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