BCAS3 (breast carcinoma amplified sequence 3)
2004-05-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
17q23.2
LOCUSID
ALIAS
GAOB1,MAAB,PHAF2
FUSION GENES
DNA/RNA
Description
spans 715 kb; orientation direct strand; at least 77 exons
Transcription
alternate splicings: 3.9 kb, 3.3 kb, 2.3 kb, 1.5 kb, 1.3 kb.
Proteins
Expression
ubiquitous
Localisation
nuclear (potential)
Implicated in
Entity name
BCAS3 is overexpressed in about 10% of breast cancers, and a hybrid gene BCAS4-BCAS3 was found in breat cancer cell line with a t(17;20)(q23;q13)
Hybrid gene
5 BCAS4 is fused to the 2 last exons (23 and 24) of BCAS3; transcript includes exon 1 from BCAS4 and 21 bp from BCAS3 exon 23; it encodes a 66 aminoacids protein; no reciprocal transcript
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12378525 | 2002 | Cloning of BCAS3 (17q23) and BCAS4 (20q13) genes that undergo amplification, overexpression, and fusion in breast cancer. | Bärlund M et al |
Other Information
Locus ID:
NCBI: 54828
MIM: 607470
HGNC: 14347
Ensembl: ENSG00000141376
Variants:
dbSNP: 54828
ClinVar: 54828
TCGA: ENSG00000141376
COSMIC: BCAS3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35659972 | 2022 | BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45α signaling pathway. | 1 |
| 35659972 | 2022 | BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45α signaling pathway. | 1 |
| 33499712 | 2021 | Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. | 5 |
| 34022130 | 2021 | Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. | 2 |
| 34071541 | 2021 | Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. | 1 |
| 34240781 | 2021 | BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer. | 9 |
| 33499712 | 2021 | Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy. | 5 |
| 34022130 | 2021 | Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder. | 2 |
| 34071541 | 2021 | Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure. | 1 |
| 34240781 | 2021 | BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer. | 9 |
| 30995157 | 2019 | Rudhira/BCAS3 couples microtubules and intermediate filaments to promote cell migration for angiogenic remodeling. | 9 |
| 30995157 | 2019 | Rudhira/BCAS3 couples microtubules and intermediate filaments to promote cell migration for angiogenic remodeling. | 9 |
| 29879923 | 2018 | Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese. | 4 |
| 29879923 | 2018 | Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese. | 4 |
| 21742584 | 2011 | Maesopsin 4-O-beta-D-glucoside, a natural compound isolated from the leaves of Artocarpus tonkinensis, inhibits proliferation and up-regulates HMOX1, SRXN1 and BCAS3 in acute myeloid leukemia. | 9 |
Citation
Jean-Loup Huret ; Sylvie Senon
BCAS3 (breast carcinoma amplified sequence 3)
Atlas Genet Cytogenet Oncol Haematol. 2004-05-01
Online version: http://atlasgeneticsoncology.org/gene/766/bcas3
