DEFA3 - defensin alpha 3 Gene

Also Known as HP3; DEF3; HNP3; HP-3; HNP-3

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1668

About DEFA3

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:7,015,869-7,018,297 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 175 orthologues and 5 paralogues. Restricted expression toward bone marrow (RPKM 20860.0).

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. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, Oct 2014]

DEFA3 Products (1)

mRNA Protein Name
NM_005217.4 NP_005208.1 neutrophil defensin 3 preproprotein

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
2006422 GOA
Biological Process GO Annotation Evidence References Source
involved in antibacterial humoral response IDA
IDA: Inferred from direct assay
12860195 GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
IDA: Inferred from direct assay
12860195 GOA
involved in defense response to Gram-positive bacterium IDA
IDA: Inferred from direct assay
12860195 GOA
involved in estrogen receptor signaling pathway IDA
IDA: Inferred from direct assay
21861873 GOA
involved in innate immune response in mucosa IDA
IDA: Inferred from direct assay
12860195 GOA
involved in killing of cells of another organism IDA
IDA: Inferred from direct assay
15616305 GOA
Cellular Component GO Annotation Evidence References Source
located in extracellular space IDA
IDA: Inferred from direct assay
12860195 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

DEFA3 Protein Structure

Defensin_propep

Defensin_propep: Defensin propeptide (1 - 52)

Defensin_1

Defensin_1: Mammalian defensin (66 - 94)

  • 0
  • 94 a.a.
Protein Preferred Names Protein Names

neutrophil defensin 3

  • defensin 3, neutrophil-specific

Recombinant DEFA3 Proteins

Cat. No. Product Name Accession Purity
HY-P76870 DEFA3/Defensin alpha 3 Protein, Human (HEK293, Fc) P59666 (D39-C94) ≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases Alias
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

  • Eec Syndrome

  • Rudiger Syndrome 1

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

  • EEC1

  • Eec Syndrome 1

  • Eec Syndrome-1

  • Walker-Clodius Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

  • Eec

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly-Cleft Lip/Palate Syndrome

  • Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

  • Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

  • Ectrodactyly-Cleft Lip-Palate Syndrome

  • Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome
Osteogenesis Imperfecta, Type Xvii

  • Osteogenesis Imperfecta Type 17

  • OI17

  • Osteogenesis Imperfecta Type Xvii

  • Osteogenesis Imperfecta 17
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-RS03674 DEFA3 Human Pre-designed siRNA Set A Pre-designed Set / Unkown