DEFB129 (defensin beta 129)

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Gene Gene information from NCBI Gene database.
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Entrez ID 140881
Gene name Defensin beta 129
Gene symbol DEFB129
Synonyms (NCBI Gene)
C20orf87DEFB-29DEFB29bA530N10.3hBD-29
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
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:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0006952 Process Defense response IEA
GO:0042742 Process Defense response to bacterium 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.
Q9H1M3
Protein name Beta-defensin 129 (Beta-defensin 29) (DEFB-29) (Defensin, beta 129)
Protein function Has antibacterial activity.
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed specifically in testis. {ECO:0000269|PubMed:12600824}.
Sequence 
MKLLFPIFASLMLQYQVNTEFIGLRRCLMGLGRCRDHCNVDEKEIQKCKMKKCCVGPKVV
KLIKNYLQYGTPNVLNEDVQEMLKPAKNSSAVIQRKHILSVLPQIKSTSFFANTNFVIIP
NATPMNSATISTMTPGQITYTATSTKSNTKESRDSATASPPPAPPPPNILPTPSLELEEA
EEQ
Sequence length 183
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE — GWAS catalog 25310821
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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DEFB128 1 shared diseaseHirschsprung disease 2 shared pathwaysBeta defensins, Defensins 1 shared evidence sourceGWAS catalog (Hirschsprung disease) Related via 2 shared pathways including Beta defensins, Defensins — evidence mostly GWAS catalog. 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.
Obesity Linked via 2 of 5 related genesDEFB128, DEFB127 Obstructive sleep apnea syndrome Linked via 2 of 5 related genesDEFB128, DEFB127 Insomnia Linked via 1 of 5 related genesDEFB118 Coronary artery disease Linked via 1 of 5 related genesDEFB127