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: 8048
MIM: 600824
HGNC: 2472
Ensembl: ENSG00000129170
Variants:
dbSNP: 8048
ClinVar: 8048
TCGA: ENSG00000129170
COSMIC: CSRP3
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713366 | Tumor necrosis factor alpha (TNF-alpha) inhibitors | Chemical | ClinicalAnnotation | associated | PD | ||
| PA443434 | Arthritis, Rheumatoid | Disease | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36877346 | 2023 | Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy. | 0 |
| 36877346 | 2023 | Identification and in silico characterization of CSRP3 synonymous variants in dilated cardiomyopathy. | 0 |
| 35241752 | 2022 | LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. | 8 |
| 35241752 | 2022 | LIM domain-wide comprehensive virtual mutagenesis provides structural rationale for cardiomyopathy mutations in CSRP3. | 8 |
| 31919335 | 2020 | Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. | 5 |
| 33035702 | 2020 | The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. | 5 |
| 31919335 | 2020 | Identification of a variant hotspot in MYBPC3 and of a novel CSRP3 autosomal recessive alteration in a cohort of Polish patients with hypertrophic cardiomyopathy. | 5 |
| 33035702 | 2020 | The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals. | 5 |
| 31406109 | 2019 | MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling. | 25 |
| 31406109 | 2019 | MLP-deficient human pluripotent stem cell derived cardiomyocytes develop hypertrophic cardiomyopathy and heart failure phenotypes due to abnormal calcium handling. | 25 |
| 30012424 | 2018 | First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy. | 7 |
| 30012424 | 2018 | First identification of homozygous truncating CSRP3 variants in two unrelated cases with hypertrophic cardiomyopathy. | 7 |
| 24860983 | 2014 | Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation. | 16 |
| 24934443 | 2014 | Human muscle LIM protein dimerizes along the actin cytoskeleton and cross-links actin filaments. | 32 |
| 24860983 | 2014 | Muscle lim protein isoform negatively regulates striated muscle actin dynamics and differentiation. | 16 |
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
