DEFB130A (defensin beta 130A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 245940
Gene name Defensin beta 130A
Gene symbol DEFB130A
Synonyms (NCBI Gene)
DEFB-30DEFB130DEFB130LDEFB30
Chromosome 8
Chromosome location 8p23.1
Summary 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 gene
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005829 Component Cytosol IDA 28181499
GO:0006952 Process Defense response IEA
GO:0031731 Function CCR6 chemokine receptor binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DP74
Protein name Beta-defensin 130A (Beta-defensin 130) (Beta-defensin 30) (DEFB-30) (Defensin, beta 130)
Protein function Antimicrobial host-defense peptide. Has an antiplasmodial activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00711 Defensin_beta 28 → 61 Beta defensin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed on differentiated macrophage phagocytizing plasmodium falciparum-parasitized erythrocytes. {ECO:0000269|PubMed:28181499}.
Sequence 
MKLHSLISVLLLFVTLIPKGKTGVIPGQKQCIALKGVCRDKLCSTLDDTIGICNEGKKCC
RRWWILEPYPTPVPKGKSP
Sequence length 79
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Beta defensins
Defensins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (1)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEUROTIC DISORDER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations