CSMD2 (CUB and Sushi multiple domains 2)

2014-11-01  

Identity

HGNC
CSMD2
LOCATION
1p35.1
LOCUSID
114784
ALIAS
dJ1007G16.1,dJ1007G16.2,dJ947L8.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 114784
MIM: 608398
HGNC: 19290
Ensembl: ENSG00000121904

Variants:

dbSNP: 114784
ClinVar: 114784
TCGA: ENSG00000121904
COSMIC: CSMD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000121904ENST00000241312Q7Z408
ENSG00000121904ENST00000338325Q5TAH7
ENSG00000121904ENST00000373377Q5T6B5
ENSG00000121904ENST00000373380Q7Z408
ENSG00000121904ENST00000373381Q7Z408
ENSG00000121904ENST00000373388Q7Z408
ENSG00000121904ENST00000619121A0A087X0K4

Expression (GTEx)

0
1
2
3
4
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
244080172014Loss of CSMD1 or 2 may contribute to the poor prognosis of colorectal cancer patients.30
244080172014Loss of CSMD1 or 2 may contribute to the poor prognosis of colorectal cancer patients.30
214395532011The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.89
214395532011The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.89
201712872010Voxelwise genome-wide association study (vGWAS).145
203608442010Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.26
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
201712872010Voxelwise genome-wide association study (vGWAS).145
203608442010Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.26
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.94

Citation

Dessen P

CSMD2 (CUB and Sushi multiple domains 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62124/csmd2-(cub-and-sushi-multiple-domains-2)