BCAS3 (breast carcinoma amplified sequence 3)

2004-05-01   Jean-Loup Huret  , Sylvie Senon  

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
BCAS3
LOCATION
17q23.2
LOCUSID
54828
ALIAS
GAOB1,MAAB,PHAF2
FUSION GENES
Show Gene Fusions

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 IDLast YearTitleAuthors
123785252002Cloning 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

Gene IDTranscript IDUniprot
ENSG00000141376ENST00000390652Q9H6U6
ENSG00000141376ENST00000407086Q9H6U6
ENSG00000141376ENST00000408905Q9H6U6
ENSG00000141376ENST00000585744K7ESE9
ENSG00000141376ENST00000586241K7EIR7
ENSG00000141376ENST00000586484K7EML5
ENSG00000141376ENST00000586705K7EKB0
ENSG00000141376ENST00000587002K7EIE2
ENSG00000141376ENST00000588168K7EJU7
ENSG00000141376ENST00000588462Q9H6U6
ENSG00000141376ENST00000588532K7EQA6
ENSG00000141376ENST00000588874Q9H6U6
ENSG00000141376ENST00000589222Q9H6U6
ENSG00000141376ENST00000590128K7EJH7
ENSG00000141376ENST00000591147K7ELH0
ENSG00000141376ENST00000592848K7EQA6
ENSG00000141376ENST00000626960K7EQA6
ENSG00000141376ENST00000639611K7EIR7

Expression (GTEx)

0
5
10
15
20
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
356599722022BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45α signaling pathway.1
356599722022BCAS3 accelerates glioblastoma tumorigenesis by restraining the P53/GADD45α signaling pathway.1
334997122021Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy.5
340221302021Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.2
340715412021Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.1
342407812021BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer.9
334997122021Mammalian BCAS3 and C16orf70 associate with the phagophore assembly site in response to selective and non-selective autophagy.5
340221302021Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.2
340715412021Polymorphism in the GATM Locus Associated with Dialysis-Independent Chronic Kidney Disease but Not Dialysis-Dependent Kidney Failure.1
342407812021BCAS3 exhibits oncogenic properties by promoting CRL4A-mediated ubiquitination of p53 in breast cancer.9
309951572019Rudhira/BCAS3 couples microtubules and intermediate filaments to promote cell migration for angiogenic remodeling.9
309951572019Rudhira/BCAS3 couples microtubules and intermediate filaments to promote cell migration for angiogenic remodeling.9
298799232018Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.4
298799232018Common variant of BCAS3 is associated with gout risk in Japanese population: the first replication study after gout GWAS in Han Chinese.4
217425842011Maesopsin 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/favicon/css/lib/haematological-explorer/