CASC3 (cancer susceptibility candidate 3)

2002-03-01 Sébastien Degot Affiliation

I.G.B.M.C, 1, rue Laurent FRIES, BP 163 67404 ILLKIRH, France

Identity

HGNC

CASC3

LOCATION

17q21.1

LOCUSID

22794

ALIAS

BTZ,MLN51

FUSION GENES

Show Gene Fusions

DNA/RNA

Description

composed of 14 exons, gene size: approximately 16 kb

Transcription

cDNA:4.1kb; coding sequence: 2111 bp

Proteins

Description

703 amino acids; theorical molecular weigth 76kDa, observed molecular weigth 115kDa; contains a functional coiled-coil domain and two functional NLS at its N-terminal part; possesses a proline-rich region with four potential SH3 domain binding sites at its C-terminal part

Expression

ubiquitous

Localisation

cytoplasmic with a perinuclear accumulation

Function

unknown

Homology

counterparts can be deduced from mouse, zebrafish, worm and drosophila genomes

Implicated in

Entity name

breast carcinomas

Note

overexpression is found in 12 to 30% of primary breast carcinomas

Article Bibliography

Pubmed ID	Last Year	Title	Authors
8752152	1996	Two distinct amplified regions at 17q11-q21 involved in human primary breast cancer.	Bièche I et al
12080473	2002	Metastatic Lymph Node 51, a novel nucleo-cytoplasmic protein overexpressed in breast cancer.	Degot S et al
7490069	1995	Identification of four novel human genes amplified and overexpressed in breast carcinoma and localized to the q11-q21.3 region of chromosome 17.	Tomasetto C et al

Other Information

Locus ID:

NCBI: 22794
MIM: 606504
HGNC: 17040
Ensembl: ENSG00000108349

Variants:

dbSNP: 22794
ClinVar: 22794
TCGA: ENSG00000108349
COSMIC: CASC3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000108349	ENST00000264645	O15234
ENSG00000108349	ENST00000474190	J3KSY7
ENSG00000108349	ENST00000577605	J3QSC4
ENSG00000108349	ENST00000584997	K7EQ38

Expression (GTEx)

100

150

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

Pathways

Pathway	Source	External ID
RNA transport	KEGG	ko03013
RNA transport	KEGG	hsa03013
mRNA surveillance pathway	KEGG	ko03015
mRNA surveillance pathway	KEGG	hsa03015
Exon junction complex (EJC)	KEGG	hsa_M00430
Exon junction complex (EJC)	KEGG	M00430
Gene Expression	REACTOME	R-HSA-74160
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Transcription Termination	REACTOME	R-HSA-73856
Cleavage of Growing Transcript in the Termination Region	REACTOME	R-HSA-109688
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163
mRNA 3'-end processing	REACTOME	R-HSA-72187
Transport of Mature Transcript to Cytoplasm	REACTOME	R-HSA-72202
Transport of Mature mRNA derived from an Intron-Containing Transcript	REACTOME	R-HSA-159236
Nonsense-Mediated Decay (NMD)	REACTOME	R-HSA-927802
Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)	REACTOME	R-HSA-975957

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32621609	2020	CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex.	21
32621609	2020	CASC3 promotes transcriptome-wide activation of nonsense-mediated decay by the exon junction complex.	21
27029030	2016	Methylation-regulated miR-124-1 suppresses tumorigenesis in hepatocellular carcinoma by targeting CASC3.	23
27029030	2016	Methylation-regulated miR-124-1 suppresses tumorigenesis in hepatocellular carcinoma by targeting CASC3.	23
23530232	2013	EJC core component MLN51 interacts with eIF3 and activates translation.	37
23530232	2013	EJC core component MLN51 interacts with eIF3 and activates translation.	37
21327427	2011	Metastatic lymph node 51 and fibroblast-like synoviocyte hyperproliferation in rheumatoid arthritis pathogenesis.	4
21327427	2011	Metastatic lymph node 51 and fibroblast-like synoviocyte hyperproliferation in rheumatoid arthritis pathogenesis.	4
17652158	2007	The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly.	40
17652158	2007	The exon-junction-complex-component metastatic lymph node 51 functions in stress-granule assembly.	40
16931718	2006	Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA.	210
16931718	2006	Structure of the exon junction core complex with a trapped DEAD-box ATPase bound to RNA.	210
15166247	2004	Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module.	47
15166247	2004	Association of the breast cancer protein MLN51 with the exon junction complex via its speckle localizer and RNA binding module.	47

Citation

Sébastien Degot

CASC3 (cancer susceptibility candidate 3)

Atlas Genet Cytogenet Oncol Haematol. 2002-03-01

Online version: http://atlasgeneticsoncology.org/gene/241/gene-fusions/js/lib/case-report-explorer/humanGenome