Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1669
Gene name Gene Name - the full gene name approved by the HGNC.
Defensin alpha 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DEFA4
Synonyms (NCBI Gene) Gene synonyms aliases
DEF4, HNP-4, HP-4, HP4
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
MIRT017503 hsa-miR-335-5p Microarray 18185580
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:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space IBA 21873635
GO:0005796 Component Golgi lumen TAS
GO:0019730 Process Antimicrobial humoral response IDA 2500436
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601157 2763 ENSG00000164821
Protein
UniProt ID P12838
Protein name Defensin alpha 4 (Corticostatin HP-4) (HNP-4) (HP-4) (Neutrophil defensin 4)
Protein function Host-defense peptide that has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi (PubMed:15317502, PubMed:15616305, PubMed:2500436, PubMed:2501794, PubMed:30658057). Exhibi
PDB 1ZMM , 6DMM , 6DMQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00879 Defensin_propep 1 51 Defensin propeptide Family
PF00323 Defensin_1 65 93 Mammalian defensin Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in neutrophils (at protein level) (PubMed:2500436, PubMed:2501794, PubMed:2843187). Expressed in bone marrow (PubMed:8469233). {ECO:0000269|PubMed:2500436, ECO:0000269|PubMed:2501794, ECO:0000269|PubMed:2843187, ECO:0000269|P
Sequence
Sequence length 97
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
Neutrophil degranulation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Associations from Text Mining
Disease Name Relationship Type References
Adenolymphoma Associate 23050799
Arthritis Juvenile Associate 34480465
Asthma Associate 33878997
Behcet Syndrome Associate 26890122
Colorectal Neoplasms Associate 40003985
COVID 19 Associate 38115996
Diabetes Mellitus Type 1 Associate 35058920
Drug Hypersensitivity Associate 25973893
Guillain Barre Syndrome Associate 38115996
Idiopathic Pulmonary Fibrosis Associate 28085486