BAG2
Basic information
Region (hg38): 6:57172326-57189833
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (10 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAG2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004282.4. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 11 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BAG2 | protein_coding | protein_coding | ENST00000370693 | 3 | 17508 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0420 | 0.856 | 125697 | 0 | 16 | 125713 | 0.0000636 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.28 | 68 | 105 | 0.648 | 0.00000488 | 1389 |
| Missense in Polyphen | 13 | 28.108 | 0.4625 | 380 | ||
| Synonymous | 0.814 | 32 | 38.4 | 0.833 | 0.00000183 | 396 |
| Loss of Function | 1.33 | 3 | 6.72 | 0.446 | 2.80e-7 | 99 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000631 | 0.0000615 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000111 | 0.000109 |
| Finnish | 0.000185 | 0.000185 |
| European (Non-Finnish) | 0.0000795 | 0.0000792 |
| Middle Eastern | 0.000111 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release (PubMed:24318877, PubMed:9873016). {ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:9873016}.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human);Regulation of HSF1-mediated heat shock response;Cellular responses to stress;Cellular responses to external stimuli;Cellular response to heat stress
(Consensus)
Recessive Scores
- pRec
- 0.173
Intolerance Scores
- loftool
- 0.458
- rvis_EVS
- -0.08
- rvis_percentile_EVS
- 47.79
Haploinsufficiency Scores
- pHI
- 0.232
- hipred
- Y
- hipred_score
- 0.716
- ghis
- 0.571
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.539
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bag2
- Phenotype
Gene ontology
- Biological process
- protein folding;positive regulation of protein processing;protein metabolic process;negative regulation of protein ubiquitination;negative regulation of protein binding;positive regulation of proteasomal ubiquitin-dependent protein catabolic process;protein stabilization;regulation of cellular response to heat;positive regulation of proteasomal protein catabolic process;negative regulation of ubiquitin protein ligase activity
- Cellular component
- cytosol;microtubule;axon;dendrite;chaperone complex;dendritic microtubule
- Molecular function
- adenyl-nucleotide exchange factor activity;protein binding;heat shock protein binding;ubiquitin protein ligase binding;identical protein binding;ion channel binding;tau protein binding;chaperone binding