BECN2

beclin 2

Basic information

Region (hg38): 1:241957767-241959062

Previous symbols: [ "BECN1P1" ]

Links

ENSG00000196289

∙ NCBI:441925 ∙ OMIM:615687 ∙ HGNC:38606 ∙ Uniprot:A8MW95 ∙ 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 BECN2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BECN2 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				1 clinvar		1
missense					3 clinvar	3
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	1	3

Variants in BECN2

This is a list of pathogenic ClinVar variants found in the BECN2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Significance	ClinVar
1-241958075-T-G	Benign (Jul 24, 2018)	769259
1-241958238-G-A	Benign (Dec 31, 2019)	767771
1-241958494-G-T	Benign (Dec 31, 2019)	767772
1-241958580-T-C	Likely benign (Oct 01, 2022)	2640210

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Involved in 2 distinct lysosomal degradation pathways: acts as a regulator of autophagy and as a regulator of G-protein coupled receptors turnover. Regulates degradation in lysosomes of a variety of G-protein coupled receptors via its interaction with GPRASP1/GASP1. {ECO:0000269|PubMed:23954414}.;
Pathway: Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Autophagy - other - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human) (Consensus)

Mouse Genome Informatics

Gene name: Becn2
Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;

Gene ontology

Biological process: autophagosome assembly;autophagy;cellular response to nitrogen starvation;endosome to lysosome transport;protein localization by the Cvt pathway;glucose homeostasis;late endosome to vacuole transport;G protein-coupled receptor catabolic process
Cellular component: phagophore assembly site;extrinsic component of membrane;phosphatidylinositol 3-kinase complex, class III, type I;phosphatidylinositol 3-kinase complex, class III, type II
Molecular function: protein binding;protein-containing complex binding