CSRP3 (cysteine and glycine rich protein 3)

2011-03-01  

Identity

HGNC
LOCATION
11p15.1
LOCUSID
ALIAS
CLP,CMD1M,CMH12,CRP3,LMO4,MLP

Other Information

Locus ID:

NCBI: 8048
MIM: 600824
HGNC: 2472
Ensembl: ENSG00000129170

Variants:

dbSNP: 8048
ClinVar: 8048
TCGA: ENSG00000129170
COSMIC: CSRP3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000129170ENST00000265968P50461
ENSG00000129170ENST00000265968A2TDB8
ENSG00000129170ENST00000533783P50461
ENSG00000129170ENST00000533783A2TDB8
ENSG00000129170ENST00000647990A0A3B3IRI5
ENSG00000129170ENST00000648719A0A3B3IT61
ENSG00000129170ENST00000649235P50461
ENSG00000129170ENST00000649235A2TDB8
ENSG00000129170ENST00000649842A0A3B3ISZ2

Expression (GTEx)

0
100
200
300
400
500
600
700
800

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164713366Tumor necrosis factor alpha (TNF-alpha) inhibitorsChemicalClinicalAnnotationassociatedPD
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
125074222002The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy.214
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
194123282008Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.67
126423592003Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.52
185057552008Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.42
200445162010A common MLP (muscle LIM protein) variant is associated with cardiomyopathy.37
190353612009Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.32
175193592007Gene expression responses over 24 h to lengthening and shortening contractions in human muscle: major changes in CSRP3, MUSTN1, SIX1, and FBXO32.29
197521902009Muscle LIM protein interacts with cofilin 2 and regulates F-actin dynamics in cardiac and skeletal muscle.24
192938402009The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy.22

Citation

Dessen P

CSRP3 (cysteine and glycine rich protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52140/csrp3-(cysteine-and-glycine-rich-protein-3)