Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1670
Gene name Gene Name - the full gene name approved by the HGNC.
Defensin alpha 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DEFA5
Synonyms (NCBI Gene) Gene synonyms aliases
DEF5, HD-5
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p23.1
Summary Summary of gene provided in NCBI Entrez Gene.
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract,
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT025903 hsa-miR-7-5p Microarray 17612493
MIRT931911 hsa-miR-4307 CLIP-seq
MIRT931912 hsa-miR-4436a CLIP-seq
MIRT2211297 hsa-miR-4457 CLIP-seq
MIRT2211298 hsa-miR-4672 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
TCF4 Unknown 19221600
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002227 Process Innate immune response in mucosa IBA 21873635
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005796 Component Golgi lumen TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600472 2764 ENSG00000164816
Protein
UniProt ID Q01523
Protein name Defensin alpha 5 (Defensin-5) (HD5(20-94)) [Cleaved into: HD5(23-94); HD5(29-94); HD5(56-94); HD5(63-94)]
Protein function Host-defense peptide that maintains sterility in the urogenital system (PubMed:12021776, PubMed:12660734, PubMed:15616305, PubMed:19589339, PubMed:22359618, PubMed:22573326, PubMed:25354318, PubMed:25782105, PubMed:30808760). Has antimicrobial a
PDB 1ZMP , 2LXZ , 2MIT , 3I5W , 4E82 , 4E83 , 4E86 , 4RBW , 4RBX , 5CUI , 5CUJ , 5CUM
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00879 Defensin_propep 1 50 Defensin propeptide Family
PF00323 Defensin_1 65 93 Mammalian defensin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the gastrointestinal, reproductive, and urinary tracts (at protein level) (PubMed:12021776, PubMed:1429669, PubMed:22359618, PubMed:9588893). Expressed in Paneth cells of the small intestine (at protein level) (PubMed:1202
Sequence
Sequence length 94
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  NOD-like receptor signaling pathway
Staphylococcus aureus infection
Transcriptional misregulation in cancer
  Defensins
Alpha-defensins
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenomatous polyposis Adenomatous Polyps rs387906228, rs387906229, rs387906230, rs137854568, rs137854569, rs137854570, rs121913327, rs137854571, rs387906231, rs387906232, rs137854572, rs137854573, rs137854574, rs387906233, rs137854575
View all (900 more)
15844706
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 15844706
Glomerulonephritis IGA Glomerulonephritis rs778043831 22197929, 25305756
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 18394979
Associations from Text Mining
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 37565794
Appendicitis Stimulate 24336024
Atrophy Associate 32089753
Barrett Esophagus Associate 15976333
Breast Neoplasms Associate 40571309
Colitis Ulcerative Stimulate 12519391
Colitis Ulcerative Associate 25768924, 33690604
Colorectal Neoplasms Associate 28077642, 29040430
COVID 19 Associate 33017910
Crohn Disease Stimulate 12519391