DEFB1 (defensin beta 1)

Gene Gene information from NCBI Gene database.
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID 1672
Gene name Defensin beta 1
Gene symbol DEFB1
Synonyms (NCBI Gene)
BD1DEFB-1DEFB101HBD1
Chromosome 8
Chromosome location 8p23.1
Summary Defensins form a family of microbicidal and cytotoxic peptides made by neutrophils. Members of the defensin family are highly similar in protein sequence. This gene encodes defensin, beta 1, an antimicrobial peptide implicated in the resistance of epithel
miRNA miRNA information provided by mirtarbase database.
5
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (5)
miRTarBase ID miRNA Experiments Reference
MIRT755820 hsa-miR-186-5p Western blottingqRT-PCR 36678471
MIRT755821 hsa-miR-340-5p Western blottingqRT-PCR 36678471
MIRT931952 hsa-miR-3163 CLIP-seq
MIRT931953 hsa-miR-340 CLIP-seq
MIRT931954 hsa-miR-579 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all (1)
Transcription factor Regulation Reference
HDAC1 Unknown 23185513
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs Transcription factors Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002227 Process Innate immune response in mucosa IBA
GO:0002227 Process Innate immune response in mucosa IDA 12860195
GO:0005515 Function Protein binding IPI 25122636, 32296183
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
602056 2766 ENSG00000164825
Protein Protein information from UniProt database.
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P60022
Protein name Beta-defensin 1 (BD-1) (hBD-1) (Defensin, beta 1)
Protein function Has bactericidal activity. May act as a ligand for C-C chemokine receptor CCR6. Positively regulates the sperm motility and bactericidal activity in a CCR6-dependent manner. Binds to CCR6 and triggers Ca2+ mobilization in the sperm which is impo
PDB 1E4S , 1IJU , 1IJV , 1KJ5 , 2NLB , 2NLC , 2NLD , 2NLE , 2NLF , 2NLG , 2NLH , 2NLP , 2NLQ , 2NLS , 2PLZ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00711 Defensin_beta 33 → 68 Beta defensin Domain
Tissue specificity TISSUE SPECIFICITY: Blood plasma. Sperm. Highly expressed in the lower head and midpiece of sperm. Significantly reduced levels found in the sperms of asthenozoospermia and leukocytospermia patients (at protein level). {ECO:0000269|PubMed:25122636, ECO:00
Sequence 
MRTSYLLLFTLCLLLSEMASGGNFLTGLGHRSDHYNCVSSGGQCLYSACPIFTKIQGTCY
RGKAKCCK
Sequence length 68
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs Transcription factors Other IDs 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 (6)
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
ASTHMA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (167)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acne Acne BEFREE 11710922, 30210158
★★★★★
★☆☆☆☆
Found in Text Mining only
Acne Vulgaris Acne BEFREE 11710922, 30210158
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 19954367
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 20720450
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 28885732
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 16534846
★★★★★
★☆☆☆☆
Found in Text Mining only
Aggressive Periodontitis Aggressive Periodontitis BEFREE 17760820, 17996844, 19829306
★★★★★
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 22444247
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24139179 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Appendicitis Appendicitis BEFREE 24336024
★★★★★
★☆☆☆☆
Found in Text Mining only