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DEFA5 - defensin alpha 5 Gene

Also Known as DEF5; HD-5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1670

About DEFA5

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:7,055,304-7,056,739 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 200 orthologues and 5 paralogues. Restricted expression toward small intestine (RPKM 5886.0).

Summary

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, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. Several of the alpha defensin genes appear to be clustered on chromosome 8. The protein encoded by this gene, defensin, alpha 5, is highly expressed in the secretory granules of Paneth cells of the ileum. [provided by RefSeq, Oct 2014]

DEFA5 Products (1)

mRNA	Protein	Name
NM_021010.3	NP_066290.1	defensin alpha 5 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	17088326	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA IDA: Inferred from direct assay	12660734	GOA
involved in defense response to Gram-negative bacterium	IDA IDA: Inferred from direct assay	12660734	GOA
involved in defense response to Gram-negative bacterium	IMP IMP: Inferred from mutant phenotype	21861459	GOA
involved in defense response to Gram-positive bacterium	IDA IDA: Inferred from direct assay	19589339	GOA
involved in defense response to Gram-positive bacterium	IMP IMP: Inferred from mutant phenotype	21861459	GOA
involved in innate immune response	IMP IMP: Inferred from mutant phenotype	21861459	GOA
involved in killing by host of symbiont cells	IDA IDA: Inferred from direct assay	9169780	GOA
involved in killing of cells of another organism	IDA IDA: Inferred from direct assay	15616305	GOA
involved in positive regulation of interleukin-8 production	IDA IDA: Inferred from direct assay	19589339	GOA
involved in positive regulation of membrane permeability	IMP IMP: Inferred from mutant phenotype	21861459	GOA
involved in protein homotetramerization	IDA IDA: Inferred from direct assay	23163963	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	9588893	GOA
located in secretory granule	IDA IDA: Inferred from direct assay	9588893	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEFA5 Protein Structure

Defensin_propep

Defensin_1

0
94 a.a.

Protein Preferred Names	Protein Names
defensin alpha 5	HD5(20-94)

DEFA5 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DEFA5	Q01523	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
Intra	DEFA5	Q01523	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
Intra	DEFA5	Q01523	MEOX2	Homo sapiens	Q6FHY5	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Urethritis	Nonspecific Urethritis Non-Gonococcal Urethritis Nongonococcal Urethritis
Microsporidiosis	Infection By Microspora Microsporidiasis Infection By Microsporea Infection By Microsporida Intestinal Microsporidiosis Microsporidia Infection Infection By Microsporidia
Gastritis	Acute Gastric Mucosal Erosion Erosive Gastritis Erosive Gastropathy Gastritis Erosive Idiopathic Erosive/Hemorrhagic Gastritis Inflammation Of Gastric Mucosa Gastroduodenitis Gastritis Nos Noninfectious Gastroenteritis Nonbacterial Gastroenteritis Of Infant Acute Gastric Infection Acute Simple Gastritis Chronic Antral Gastritis Chronic Fundal Gastritis Chronic Simple Gastritis Acute Gastroduodenitis Acute Antral Gastritis Acute Erosive Gastritis Bile Reflux Gastritis Gastritis Due To Biliary Reflux
Inflammatory Bowel Disease 2	IBD2
Crohn'S Colitis	Crohn Disease
Pyelonephritis
Colitis
Inflammatory Bowel Disease	Inflammatory Bowel Diseases Bowel Disease, Inflammatory
Febrile Seizures, Familial, 6	FEB6 Familial Febrile Seizures 6 Convulsions, Familial Febrile, 6 Familial Febrile Convulsions 6 Febrile Convulsions, Familial, 6
Chronic Pyelonephritis

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03676	DEFA5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DEFA5	RGD	RGD:727951
Others	DEFA5	NCBI