DEFB135 (defensin beta 135)

Download as csv Download as pdf
Log in to save this analysis

Save This Analysis

Gene Gene information from NCBI Gene database.
Download as csvDownload as pdf
Entrez ID 613209
Gene name Defensin beta 135
Gene symbol DEFB135
Synonyms (NCBI Gene)
DEFB136
Chromosome 8
Chromosome location 8p23.1
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.
5
Download as csvDownload as pdf
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
GO:0050829 Process Defense response to Gram-negative bacterium IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Download as csvDownload as pdf
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
Download as csvDownload as pdf
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q30KP9
Protein name Beta-defensin 135 (Defensin, beta 135)
Protein function Has antibacterial activity.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13841 Defensin_beta_2 36 → 65 Beta defensin Domain
Sequence 
MATRSVLLALVVLNLLFYVPPGRSGPNVYIQKIFASCWRLQGTCRPKCLKNEQYRILCDT
IHLCCVNPKYLPILTGK
Sequence length 77
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Download as csvDownload as pdf
Reactome Pathway
Beta defensins
Defensins
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Download as csvDownload as pdf
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
NEUROTIC DISORDER — GWAS catalog 30643256
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-MELANOMA SKIN CARCINOMA — GWAS catalog 29739929
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Sort by:
DEFB136 1 shared diseaseNon-melanoma skin carcinoma 2 shared pathwaysBeta defensins, Defensins 1 shared evidence sourceGWAS catalog (Non-melanoma skin carcinoma) 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.
Atrial fibrillation Linked via 1 of 5 related genesDEFB136 Hypertension Linked via 1 of 5 related genesDEFB136 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