CSMD2 (CUB and Sushi multiple domains 2)

2014-11-01 Affiliation

Identity

HGNC

CSMD2

LOCATION

1p35.1

LOCUSID

114784

ALIAS

dJ1007G16.1,dJ1007G16.2,dJ947L8.1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000121904	ENST00000241312	Q7Z408
ENSG00000121904	ENST00000338325	Q5TAH7
ENSG00000121904	ENST00000373377	Q5T6B5
ENSG00000121904	ENST00000373380	Q7Z408
ENSG00000121904	ENST00000373381	Q7Z408
ENSG00000121904	ENST00000373388	Q7Z408
ENSG00000121904	ENST00000619121	A0A087X0K4

Expression (GTEx)

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

References

Pubmed ID	Year	Title	Citations
20171287	2010	Voxelwise genome-wide association study (vGWAS).	124
19913121	2009	Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.	85
19240061	2009	Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.	75
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	62
21439553	2011	The complement control-related genes CSMD1 and CSMD2 associate to schizophrenia.	58
20360844	2010	Genome-wide association study identifies GPC5 as a novel genetic locus protective against sudden cardiac arrest.	21
24408017	2014	Loss of CSMD1 or 2 may contribute to the poor prognosis of colorectal cancer patients.	15
12906867	2003	Identification of two new members of the CSMD gene family.	13
20628086	2010	Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.	11

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