DEFB131A (defensin beta 131A)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 644414
Gene name Defensin beta 131A
Gene symbol DEFB131A
Synonyms (NCBI Gene)
DEFB-31DEFB131
Chromosome 4
Chromosome location 4p16.1
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.
13
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (13)
GO ID Ontology Definition Evidence Reference
GO:0002720 Process Positive regulation of cytokine production involved in immune response IMP 26649771
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0005615 Component Extracellular space IBA
GO:0005615 Component Extracellular space IDA 26649771
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.
P59861
Protein name Beta-defensin 131A (Beta-defensin 31) (DEFB-31) (Defensin, beta 131)
Protein function Has antibacterial activity (Probable). Upon stimulation with lipoteichoic acid, promotes cytokines and chemokines production and secretion (PubMed:26649771).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13841 Defensin_beta_2 28 → 57 Beta defensin Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in testis. Is moderately expressed in the prostate and small intestine. {ECO:0000269|PubMed:12600824}.
Sequence 
MRVLFFVFGVLSLMFTVPPARSFISNDECPSEYYHCRLKCNADEHAIRYCADFSICCKLK
IIEIDGQKKW
Sequence length 70
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
GOUT — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations