CSMD3 (CUB and Sushi multiple domains 3)

2009-09-01  

Identity

HGNC
LOCATION
8q23.3
LOCUSID
ALIAS
-
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
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-q24.1.20
195286672009Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.20
129068672003Identification of two new members of the CSMD gene family.13
182705362008Two patients with balanced translocations and autistic disorder: CSMD3 as a candidate gene for autism found in their common 8q23 breakpoint area.12
213512762010Somatic mutations and germline sequence variants in patients with familial colorectal cancer.12
155236072004Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency.7

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/csmd3-(cub-and-sushi-multiple-domains-3)