DEFB116 (defensin beta 116)

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Gene Gene information from NCBI Gene database.
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Entrez ID 245930
Gene name Defensin beta 116
Gene symbol DEFB116
Synonyms (NCBI Gene)
DEFB-16
Chromosome 20
Chromosome location 20q11.21
Summary Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensi
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:0005576 Component Extracellular region IEA
GO:0006952 Process Defense response IEA
GO:0042742 Process Defense response to bacterium IEA
GO:0045087 Process Innate immune response IEA
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.
Q30KQ4
Protein name Beta-defensin 116 (Beta-defensin 16) (DEFB-16) (Defensin, beta 116)
Protein function Has antibacterial activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13841 Defensin_beta_2 39 → 68 Beta defensin Domain
Sequence 
MSVMKPCLMTIAILMILAQKTPGGLFRSHNGKSREPWNPCELYQGMCRNACREYEIQYLT
CPNDQKCCLKLSVKITSSKNVKEDYDSNSNLSVTNSSSYSHI
Sequence length 102
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.).
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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
SCOLIOSIS — GWAS catalog 30019117
★★★★★
★★☆☆☆
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