DEFB131A (defensin beta 131A)

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Gene Gene information from NCBI Gene database.
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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.
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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.
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MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
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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.
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Reactome Pathway
Beta defensins
Defensins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
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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)
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 Reference Evidence Score
GOUT — GWAS catalog 31578528, 33462484
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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DEFB130B 2 shared pathwaysBeta defensins, Defensins Related via 2 shared pathways including Beta defensins, Defensins. DEFB118 2 shared pathwaysBeta defensins, Defensins Related via 2 shared pathways including Beta defensins, Defensins. DEFB104A 2 shared pathwaysBeta defensins, Defensins Related via 2 shared pathways including Beta defensins, Defensins. DEFB127 2 shared pathwaysBeta defensins, Defensins Related via 2 shared pathways including Beta defensins, Defensins. DEFB129 2 shared pathwaysBeta defensins, Defensins Related via 2 shared pathways including Beta defensins, Defensins.
Insomnia Linked via 1 of 5 related genesDEFB118 Coronary artery disease Linked via 1 of 5 related genesDEFB127 Obesity Linked via 1 of 5 related genesDEFB127 Obstructive sleep apnea syndrome Linked via 1 of 5 related genesDEFB127 Hirschsprung disease Linked via 1 of 5 related genesDEFB129