CSMD1 (CUB and Sushi multiple domains 1)

2003-02-01  

Identity

HGNC
CSMD1
LOCATION
8p23.2
LOCUSID
64478
ALIAS
PPP1R24
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64478
MIM: 608397
HGNC: 14026
Ensembl: ENSG00000183117

Variants:

dbSNP: 64478
ClinVar: 64478
TCGA: ENSG00000183117
COSMIC: CSMD1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000183117ENST00000335551H7BXU2
ENSG00000183117ENST00000400186F8W9C3
ENSG00000183117ENST00000520002E5RIG2
ENSG00000183117ENST00000537824F5GZ18
ENSG00000183117ENST00000602557E5RIG2
ENSG00000183117ENST00000602723F8W9C3
ENSG00000183117ENST00000635120Q96PZ7

Expression (GTEx)

0
1
2
3
4
5
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA131285527oxaliplatinChemicalMultilinkAnnotationassociated24444404
PA447288Essential hypertensionDiseaseClinicalAnnotationassociatedPD
PA449899hydrochlorothiazideChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
385529252024CSMD1 regulates brain complement activity and circuit development.0
385618562024Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.0
385529252024CSMD1 regulates brain complement activity and circuit development.0
385618562024Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.0
351288302022New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.2
356234202022CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.6
365535982022The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.5
351288302022New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.2
356234202022CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.6
365535982022The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.5
335584472021Combined identification of ARID1A, CSMD1, and SENP3 as effective prognostic biomarkers for hepatocellular carcinoma.6
343843622021Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro.4
344044392021Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy.7
348283212021CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer.4
335584472021Combined identification of ARID1A, CSMD1, and SENP3 as effective prognostic biomarkers for hepatocellular carcinoma.6

Citation

Dessen P

CSMD1 (CUB and Sushi multiple domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/40167/csmd1-(cub-and-sushi-multiple-domains-1)