DEFA1

defensin alpha 1, the group of Defensins, alpha

Basic information

Region (hg38): 8:6977649-6980092

Previous symbols: [ "DEF1", "MRS", "DEFA2" ]

Links

ENSG00000206047

∙ NCBI:1667 ∙ OMIM:125220 ∙ HGNC:2761 ∙ Uniprot:P59665 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DEFA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DEFA1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Defensin 1 and defensin 2 have antibacterial, fungicide and antiviral activities. Has antimicrobial activity against Gram- negative and Gram-positive bacteria. Defensins are thought to kill microbes by permeabilizing their plasma membrane. {ECO:0000269|PubMed:15616305, ECO:0000269|PubMed:17452329}.;
Pathway: Neutrophil degranulation;Antimicrobial peptides;Innate Immune System;Immune System;Alpha-defensins;Defensins;Cellular roles of Anthrax toxin (Consensus)

Recessive Scores

pRec: 0.0489

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.413

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.00229

Gene ontology

Biological process: innate immune response in mucosa;chemotaxis;immune response;T cell chemotaxis;antimicrobial humoral response;antibacterial humoral response;intracellular estrogen receptor signaling pathway;killing of cells of other organism;defense response to protozoan;neutrophil degranulation;pore formation in membrane of other organism during symbiotic interaction;defense response to Gram-negative bacterium;defense response to Gram-positive bacterium;defense response to fungus;defense response to virus;membrane disruption in other organism;disruption by host of symbiont cells;antimicrobial humoral immune response mediated by antimicrobial peptide;cellular response to lipopolysaccharide
Cellular component: extracellular region;extracellular space;Golgi lumen;azurophil granule lumen;collagen-containing extracellular matrix;extracellular exosome
Molecular function