Human Gene DEFA4 (uc003wqu.1) Description and Page Index
Description: Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA. RefSeq Summary (NM_001925): 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 alpha defensin genes are clustered on chromosome 8. This gene differs from other genes of this family by an extra 83-base segment that is apparently the result of a recent duplication within the coding region. The protein encoded by this gene, defensin, alpha 4, is found in the neutrophils; it exhibits corticostatic activity and inhibits corticotropin stimulated corticosterone production. [provided by RefSeq, Oct 2014]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: HY078510.1, DN998607.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA2142853 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## Protein has antimicrobial activity :: PMID: 2500436 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr8:6,793,345-6,795,786 Size: 2,442 Total Exon Count: 3 Strand: - Coding Region Position: hg19 chr8:6,793,542-6,794,421 Size: 880 Coding Exon Count: 2
ID:DEF4_HUMAN DESCRIPTION: RecName: Full=Neutrophil defensin 4; AltName: Full=Defensin, alpha 4; AltName: Full=HNP-4; Short=HP-4; Flags: Precursor; FUNCTION: Has antimicrobial activity against Gram-negative bacteria, and to a lesser extent also against Gram-positive bacteria and fungi. Protects blood cells against infection with HIV-1 (in vitro). Inhibits corticotropin (ACTH)-stimulated corticosterone production. SUBUNIT: Homodimer. SUBCELLULAR LOCATION: Secreted. SIMILARITY: Belongs to the alpha-defensin family.
Genetic Association Studies of Complex Diseases and Disorders
Genetic Association Database (archive): DEFA4 CDC HuGE Published Literature: DEFA4
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P12838
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0042803 protein homodimerization activity