CSMD3 (CUB and Sushi multiple domains 3)

2009-09-01  

Identity

HGNC
CSMD3
LOCATION
8q23.3
LOCUSID
114788
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114788
MIM: 608399
HGNC: 19291
Ensembl: ENSG00000164796

Variants:

dbSNP: 114788
ClinVar: 114788
TCGA: ENSG00000164796
COSMIC: CSMD3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164796ENST00000297405Q7Z407
ENSG00000164796ENST00000339701H7BXX0
ENSG00000164796ENST00000343508Q7Z407
ENSG00000164796ENST00000455883Q7Z407

Expression (GTEx)

0
1
2
3
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
N/A

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
213512762010Somatic mutations and germline sequence variants in patients with familial colorectal cancer.18
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
213512762010Somatic mutations and germline sequence variants in patients with familial colorectal cancer.18
195286672009Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.23
195286672009Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.23
182705362008Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.18
182705362008Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.18
155236072004Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.7
155236072004Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.7
129068672003Identification of two new members of the CSMD gene family.21
129436752003A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.35
129068672003Identification of two new members of the CSMD gene family.21
129436752003A novel giant gene CSMD3 encoding a protein with CUB and sushi multiple domains: a candidate gene for benign adult familial myoclonic epilepsy on human chromosome 8q23.3-q24.1.35

Citation

Dessen P

CSMD3 (CUB and Sushi multiple domains 3)

Atlas Genet Cytogenet Oncol Haematol. 2009-09-01

Online version: http://atlasgeneticsoncology.org/gene/51059/tumors-explorer/img/js/web-card-_common.js