CSRP3

Chr 11p15.1

cysteine and glycine rich protein 3

Aliases:: CLP, MLP, CMD1M
MANE:: ENST00000265968.9

OMIM: 600824 ↗NCBI: 8048 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CSRP3 · P50461

v62025-08-01

Predicted Aligned Error matrix for CSRP3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

73.4/ 100

Confident

194 residues

Confidence breakdown

Very high(≥ 90)11%
Confident(70–90)52%
Low(50–70)20%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Dilated Cardiomyopathy and conduction defects
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hypertrophic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Paediatric or syndromic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated and arrhythmogenic cardiomyopathy
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary neuropathy
Hereditary neuropathy or pain disorder

Disease associations (Open Targets)

dilated cardiomyopathy 1M
0.76
hypertrophic cardiomyopathy 12
0.74
hypertrophic cardiomyopathy
0.72
familial isolated dilated cardiomyopathy
0.59
cardiomyopathy
0.58
Rare familial disorder with hypertrophic cardiomyopathy
0.55
Abnormality of the cardiovascular system
0.52
dilated cardiomyopathy
0.50
familial hypertrophic cardiomyopathy
0.44
hypertrophic cardiomyopathy 1
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Cysteine and glycine-rich protein 3

Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Enhances the DNA-binding activity of the MYOD1:TCF3 isoform E47 complex and may promote formation of a functional MYOD1:TCF3 isoform E47:MEF2A complex involved in myogenesis (By similarity). Plays a crucial and specific role in the organization of cytosolic structures in cardiomyocytes. Could play a role in mechanical stretch sensing. May be a scaffold protein that promotes the assembly of interacting proteins at Z-line structures. It is essential for calcineurin anchorage to the Z line. Required for stress-induced calcineurin-NFAT activation (By similarity). The role in regulation of cytoskeleton dynamics by association with CFL2 is reported conflictingly: Shown to enhance CFL2-mediated F-actin depolymerization dependent on the CSRP3:CFL2 molecular ratio, and also shown to reduce the ability of CLF1 and CFL2 to enhance actin depolymerization (PubMed:19752190, PubMed:24934443). Proposed to contribute to the maintenance of muscle cell integrity through an actin-based mechanism. Can directly bind to actin filaments, cross-link actin filaments into bundles without polarity selectivity and protect them from dilution- and cofilin-mediated depolymerization; the function seems to involve its self-association (PubMed:24934443). In vitro can inhibit PKC/PRKCA activity (PubMed:27353086). Proposed to be involved in cardiac stress signaling by down-regulating excessive PKC/PRKCA signaling (By similarity)