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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CSRP3
cysteine and glycine rich protein 3
Chromosome 11 Β· 11p15.1
NCBI Gene: 8048Ensembl: ENSG00000129170.10HGNC: HGNC:2472UniProt: A0A3B3ISZ2
50PubMed Papers
22Diseases
0Drugs
36Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IIidentical protein bindingcardiac muscle contractionprotein bindingdilated cardiomyopathy 1Mhypertrophic cardiomyopathy 12hypertrophic cardiomyopathycardiomyopathy
✦AI Summary

CSRP3 (cysteine and glycine-rich protein 3), also known as muscle LIM protein (MLP), is a sarcomere-associated protein essential for cardiac muscle organization and function. Functionally, CSRP3 plays a critical role in early sarcomere organization and Z-disc assembly, with proposed mechanisms involving regulation of actin dynamics through modulation of cofilin-2 (CFL2)-mediated F-actin depolymerization 1. CSRP3 also functions as a cardiac-derived endocrine factor that transits plasma after cardiac injury and undergoes megalin-dependent endocytosis in renal proximal tubules, contributing to post-cardiac injury kidney fibrosis 2. Disease relevance is substantial: CSRP3 mutations cause both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) 13. CSRP3 was most recently classified with definitive evidence for semidominant HCM inheritance 45. CSRP3 deficiency in animal models produces excessive cardiac trabeculation and impairs heart regeneration by disrupting cardiomyocyte dedifferentiation, sarcomere reassembly, and proliferation 3. Intermediate-effect variants in CSRP3 contribute to ~4.8% of HCM genetic burden and modify disease severity when combined with monogenic variants 6. Clinically, CSRP3 testing should be included in HCM genetic panels given its definitive disease association, and variant interpretation should account for both rare pathogenic variants and intermediate-frequency missense variants affecting disease expression and outcomes.

Sources cited
1
CSRP3 encodes a non-sarcomeric protein with variants shown to be disease-causing in HCM patients
PMID: 34526680
2
CSRP3 was curated for definitive semidominant mode of inheritance in HCM
PMID: 39971408
3
CSRP3 was curated for semi-dominant mode of inheritance with definitive HCM association
PMID: 39132495
4
CSRP3 is a cardiac-specific protein that transits plasma after heart injury and undergoes megalin-dependent endocytosis in renal proximal tubules to drive kidney fibrosis
PMID: 40536823
5
CSRP3 mutations are linked to HCM and DCM; CSRP3 deficiency causes excessive trabeculation and impairs heart regeneration through effects on cardiomyocyte dedifferentiation, sarcomere reassembly, and proliferation
PMID: 38556571
6
Intermediate-effect variants in CSRP3 are present in 6.1% of HCM cases and account for 4.8% of HCM genetic burden, with effects modified when combined with monogenic variants
PMID: 40879562
Disease Associationsβ“˜22
dilated cardiomyopathy 1MOpen Targets
0.76Strong
hypertrophic cardiomyopathy 12Open Targets
0.74Strong
hypertrophic cardiomyopathyOpen Targets
0.72Strong
cardiomyopathyOpen Targets
0.60Moderate
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.55Moderate
Abnormality of the cardiovascular systemOpen Targets
0.52Moderate
dilated cardiomyopathyOpen Targets
0.51Moderate
familial hypertrophic cardiomyopathyOpen Targets
0.44Moderate
familial isolated dilated cardiomyopathyOpen Targets
0.38Weak
osteoarthritis, kneeOpen Targets
0.35Weak
hypertrophic cardiomyopathy 1Open Targets
0.34Weak
osteoarthritisOpen Targets
0.33Weak
benign colon neoplasmOpen Targets
0.21Weak
Second degree atrioventricular blockOpen Targets
0.17Weak
autosomal dominant dilated cardiomyopathyOpen Targets
0.17Weak
Primrose syndromeOpen Targets
0.12Weak
Prolonged QT intervalOpen Targets
0.12Weak
diabetic ketoacidosisOpen Targets
0.11Weak
liver diseaseOpen Targets
0.11Weak
adolescent idiopathic scoliosisOpen Targets
0.10Weak
Cardiomyopathy, dilated, 1MUniProt
Cardiomyopathy, familial hypertrophic, 12UniProt
Pathogenic Variants36
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|not specified|Cardiovascular phenotype|Cardiomyopathy|not provided|Primary familial hypertrophic cardiomyopathy|Hypertrophic cardiomyopathy 12
β˜…β˜…β˜†β˜†2026β†’ Residue 150
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter)Pathogenic
not provided|Cardiomyopathy|Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜…β˜†β˜†2025β†’ Residue 122
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)Pathogenic
Hypertrophic cardiomyopathy 12|Cardiovascular phenotype|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜…β˜†β˜†2025β†’ Residue 58
NM_003476.5(CSRP3):c.414+1G>TLikely pathogenic
Cardiomyopathy|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2025
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs)Pathogenic
not provided|Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 18
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter)Pathogenic
Cardiomyopathy|Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜…β˜†β˜†2023β†’ Residue 37
NM_003476.5(CSRP3):c.49_55del (p.Val17fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2025β†’ Residue 17
NM_003476.5(CSRP3):c.298del (p.Arg100fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2025β†’ Residue 100
NM_003476.5(CSRP3):c.281+1G>CLikely pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜†β˜†β˜†2025
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜†β˜†β˜†2025β†’ Residue 62
NM_003476.5(CSRP3):c.161C>A (p.Ser54Ter)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2025β†’ Residue 54
NM_003476.5(CSRP3):c.54C>A (p.Tyr18Ter)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜†β˜†β˜†2024β†’ Residue 18
NM_003476.5(CSRP3):c.72del (p.Gln24fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024β†’ Residue 24
NM_003476.5(CSRP3):c.414+1G>CLikely pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024
NM_003476.5(CSRP3):c.27del (p.Lys9fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024β†’ Residue 9
NM_003476.5(CSRP3):c.444dup (p.Ile149fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024β†’ Residue 149
NM_003476.5(CSRP3):c.52del (p.Tyr18fs)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜†β˜†β˜†2024β†’ Residue 18
NM_003476.5(CSRP3):c.55del (p.His19fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024β†’ Residue 19
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs)Pathogenic
Dilated cardiomyopathy 1M;Hypertrophic cardiomyopathy 12
β˜…β˜†β˜†β˜†2024β†’ Residue 28
NM_003476.5(CSRP3):c.165del (p.Ile56fs)Pathogenic
Hypertrophic cardiomyopathy 12;Dilated cardiomyopathy 1M
β˜…β˜†β˜†β˜†2024β†’ Residue 56
View on ClinVar β†—
Related Genes
SGCDProtein interaction100%ANKRD1Protein interaction98%CAV3Protein interaction98%MYLK2Protein interaction98%CASQ2Protein interaction96%MYBPC3Protein interaction96%
Tissue Expression6 tissues
Heart
100%
Lung
0%
Liver
0%
Ovary
0%
Brain
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CSRP3SGCDANKRD1CAV3MYLK2CASQ2MYBPC3
PROTEIN STRUCTURE
Preparing viewer…
PDB2O10 Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.31LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.92 [0.65–1.31]
RankingsWhere CSRP3 stands among ~20K protein-coding genes
  • #8,793of 20,598
    Most Researched50
  • #1,655of 5,498
    Most Pathogenic Variants36
  • #13,751of 17,882
    Most Constrained (LOEUF)1.31
Genes detectedCSRP3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.
PMID: 30681346
Circ Genom Precis Med Β· 2019
1.00
2
PMID: 20301486
0.90
3
Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies.
PMID: 34526680
Nat Rev Cardiol Β· 2022
0.80
4
Genes Associated With HypertrophicΒ Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel.
PMID: 39971408
J Am Coll Cardiol Β· 2025
0.70
5
ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy.
PMID: 39132495
medRxiv Β· 2024
0.60