DEFB127 (defensin beta 127)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 140850
Gene name Defensin beta 127
Gene symbol DEFB127
Synonyms (NCBI Gene)
C20orf73DEF-27DEFB-27DEFB27bA530N10.2hBD-27
Chromosome 20
Chromosome location 20p13
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
miRNA miRNA information provided by mirtarbase database.
2
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
miRTarBase ID miRNA Experiments Reference
MIRT2211305 hsa-miR-3128 CLIP-seq
MIRT2211306 hsa-miR-4325 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005576 Component Extracellular region IEA
GO:0006952 Process Defense response IEA
GO:0042742 Process Defense response to bacterium IEA
GO:0042742 Process Defense response to bacterium TAS 10588992
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Gene miRNA 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.
Q9H1M4
Protein name Beta-defensin 127 (Beta-defensin 27) (DEFB-27) (Defensin, beta 127)
Protein function Has antibacterial activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13841 Defensin_beta_2 23 → 54 Beta defensin Domain
Sequence 
MGLFMIIAILLFQKPTVTEQLKKCWNNYVQGHCRKICRVNEVPEALCENGRYCCLNIKEL
EACKKITKPPRPKPATLALTLQDYVTIIENFPSLKTQST
Sequence length 99
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA 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.).
3
Gene miRNA 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 (3)
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
CORONARY ARTERY DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBSTRUCTIVE SLEEP APNEA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (2)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Glioblastoma Glioblastoma Pubtator 19423540 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Leukemia, Myelocytic, Acute Leukemia GWASCAT_DG 27903959
★★★★★
★☆☆☆☆
Found in Text Mining only