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This gene encodes a member of the CSRP family of LIM domain proteins, which may be involved in regulatory processes important for development and cellular differentiation. The LIM/double zinc-finger motif found in this protein is found in a group of proteins with critical functions in gene regulation, cell growth, and somatic differentiation. Mutations in this gene are thought to cause heritable forms of hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM) in humans. Alternatively spliced transcript variants with different 5' UTR, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
CSRP3 (Cysteine And Glycine Rich Protein 3) is a Protein Coding gene. Diseases associated with CSRP3 include Cardiomyopathy, Familial Hypertrophic, 12 and Cardiomyopathy, Dilated, 1M. Gene Ontology (GO) annotations related to this gene include structural constituent of muscle and telethonin binding. An important paralog of this gene is CSRP1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J019198 | Promoter/Enhancer | 1.5 | EPDnew Ensembl ENCODE dbSUPER | 750.4 | +10.1 | 10098 | 5.1 | ZNF148 MNT NR2F1 FOSL1 NR2F2 ZNF366 | CSRP3 E2F8 ENSG00000255308-001 | |
GH11J019172 | Enhancer | 1 | VISTA dbSUPER | 11.9 | +36.8 | 36808 | 2.5 | TEAD4 CBFA2T2 TRIM24 PKNOX1 EP300 SOX6 ZNF766 E2F5 ZSCAN29 GABPA | ZDHHC13 GTF2H1 CSRP3-AS1 CSRP3 ENSG00000256282 piR-38579-009 HSALNG0083042 | |
GH11J019206 | Enhancer | 0.8 | VISTA Ensembl dbSUPER | 0.6 | +2.3 | 2330 | 3.7 | USF1 | E2F8 CSRP3 ENSG00000255308-001 | |
GH11J019216 | Enhancer | 1 | VISTA Ensembl ENCODE dbSUPER | 0.4 | -8.1 | -8055 | 3.7 | CEBPB NFYB GATA3 CEBPG ATF2 ATF7 | E2F8 CSRP3-AS1 ZDHHC13 CSRP3 lnc-CSRP3-1 ENSG00000255308-001 | |
GH11J019191 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 0.4 | +18.6 | 18617 | 1.3 | RAD21 SP1 TFE3 RXRA JUND NR2C2 YY1 NR2F2 HNF4A MAX | ENSG00000254966 ENSG00000255308-001 piR-38579-009 CSRP3 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003779 | actin binding | IEA | -- |
GO:0005515 | protein binding | IPI | 12127981 |
GO:0008307 | structural constituent of muscle | IMP | 12507422 |
GO:0031433 | telethonin binding | IPI | 15582318 |
GO:0042802 | identical protein binding | IPI | 24860983 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0030017 | sarcomere | IEA | -- |
GO:0030018 | Z disc | IDA | 12507422 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002026 | regulation of the force of heart contraction | ISS | -- |
GO:0003300 | cardiac muscle hypertrophy | IMP | 12507422 |
GO:0006874 | cellular calcium ion homeostasis | ISS | -- |
GO:0006954 | inflammatory response | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Tumor necrosis factor alpha (TNF-alpha) inhibitors | Pharma | 0 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | CSRP3 33 32 |
|
OneToOne | |
platypus (Ornithorhynchus anatinus) |
Mammalia | oan-mir-7434 33 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Csrp3 17 33 32 |
|
||
dog (Canis familiaris) |
Mammalia | CSRP3 33 32 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | CSRP3 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Csrp3 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | CSRP3 33 |
|
OneToOne | |
chicken (Gallus gallus) |
Aves | CSRP3 33 32 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | CSRP3 33 |
|
OneToOne | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | csrp3 32 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | csrp3-A-prov 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | csrp3 33 32 |
|
OneToOne | |
fruit fly (Drosophila melanogaster) |
Insecta | Mlp60A 33 32 |
|
ManyToMany | |
Mlp84B 33 34 |
|
ManyToMany | |||
worm (Caenorhabditis elegans) |
Secernentea | mlp-1 33 |
|
OneToMany |
SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs104894204 | pathogenic, Familial hypertrophic cardiomyopathy 12, Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124] | 19,188,245(-) | A/C | coding_sequence_variant, intron_variant, missense_variant | |
rs104894205 | pathogenic, uncertain-significance, likely-pathogenic, Familial hypertrophic cardiomyopathy 12, not specified, Cardiovascular phenotype, Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy, Cardiomyopathy, familial hypertrophic 12 (CMH12) [MIM:612124] | 19,188,286(-) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
rs1060500131 | uncertain-significance, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12 | 19,192,399(-) | A/T | coding_sequence_variant, missense_variant | |
rs111868331 | uncertain-significance, not specified, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12 | 19,182,711(-) | C/G | coding_sequence_variant, missense_variant | |
rs112848043 | benign, likely-benign, not specified, Dilated cardiomyopathy 1M, Familial hypertrophic cardiomyopathy 12, Cardiovascular phenotype, Cardiomyopathy | 19,188,255(-) | C/T | coding_sequence_variant, intron_variant, synonymous_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2744177 | CNV | deletion | 23290073 |
esv3625533 | CNV | loss | 21293372 |
nsv1041249 | CNV | gain | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cardiomyopathy, familial hypertrophic, 12 |
|
|
cardiomyopathy, dilated, 1m |
|
|
dilated cardiomyopathy |
|
|
familial isolated dilated cardiomyopathy |
|
|
endocardial fibroelastosis |
|
|