Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8048
Gene name	Cysteine and glycine rich protein 3
Gene symbol	CSRP3
Synonyms (NCBI Gene)	CLPCMD1MCMH12CRP3LMO4MLP
Chromosome	11
Chromosome location	11p15.1
Summary	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 prote

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs13451	C>G,T	Likely-benign, benign, likely-pathogenic	Synonymous variant, coding sequence variant
rs104894204	A>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894205	A>G	Uncertain-significance, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs137852764	T>C	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs137852765	T>G	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs138218523	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, missense variant
rs142019584	G>A,C	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs185980145	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs193922667	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs281865416	TCCGA>CCCCT	Pathogenic	Coding sequence variant, intron variant, missense variant
rs761507504	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs876657767	C>G,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, synonymous variant
rs886041190	->CC	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs902082118	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs963128995	C>A	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1565050320	C>G	Pathogenic	Coding sequence variant, missense variant
rs1565050709	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1565053085	C>T	Likely-pathogenic	Coding sequence variant, synonymous variant
rs1565053147	T>A	Likely-pathogenic	Coding sequence variant, missense variant

Show/Hide all (51)

miRTarBase ID	miRNA	Experiments	Reference
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT566906	hsa-miR-6755-5p	PAR-CLIP	20371350
MIRT566905	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT566904	hsa-miR-103a-2-5p	PAR-CLIP	20371350
MIRT566903	hsa-miR-197-5p	PAR-CLIP	20371350
MIRT566902	hsa-miR-3132	PAR-CLIP	20371350
MIRT566901	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT566900	hsa-miR-569	PAR-CLIP	20371350
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT637238	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT637237	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT637236	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT566906	hsa-miR-6755-5p	PAR-CLIP	20371350
MIRT566905	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT566904	hsa-miR-103a-2-5p	PAR-CLIP	20371350
MIRT566903	hsa-miR-197-5p	PAR-CLIP	20371350
MIRT566902	hsa-miR-3132	PAR-CLIP	20371350
MIRT566901	hsa-miR-4650-3p	PAR-CLIP	20371350
MIRT566900	hsa-miR-569	PAR-CLIP	20371350
MIRT913268	hsa-miR-150	CLIP-seq
MIRT913269	hsa-miR-2117	CLIP-seq
MIRT913270	hsa-miR-2681	CLIP-seq
MIRT913271	hsa-miR-340	CLIP-seq
MIRT913272	hsa-miR-4273	CLIP-seq
MIRT913273	hsa-miR-4528	CLIP-seq
MIRT913274	hsa-miR-4713-5p	CLIP-seq
MIRT913275	hsa-miR-4760-5p	CLIP-seq
MIRT913276	hsa-miR-532-3p	CLIP-seq
MIRT1970853	hsa-miR-105	CLIP-seq
MIRT1970854	hsa-miR-369-3p	CLIP-seq
MIRT1970855	hsa-miR-374a	CLIP-seq
MIRT1970856	hsa-miR-374b	CLIP-seq
MIRT1970857	hsa-miR-374c	CLIP-seq
MIRT1970858	hsa-miR-4729	CLIP-seq
MIRT1970859	hsa-miR-4797-5p	CLIP-seq
MIRT1970860	hsa-miR-655	CLIP-seq
MIRT1970853	hsa-miR-105	CLIP-seq
MIRT1970854	hsa-miR-369-3p	CLIP-seq
MIRT1970855	hsa-miR-374a	CLIP-seq
MIRT1970856	hsa-miR-374b	CLIP-seq
MIRT1970857	hsa-miR-374c	CLIP-seq
MIRT1970858	hsa-miR-4729	CLIP-seq
MIRT1970859	hsa-miR-4797-5p	CLIP-seq
MIRT1970860	hsa-miR-655	CLIP-seq

Show/Hide all (59)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002026	Process	Regulation of the force of heart contraction	IEA
GO:0002026	Process	Regulation of the force of heart contraction	ISS
GO:0003300	Process	Cardiac muscle hypertrophy	IMP	12507422
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	12127981, 15205937, 15582318, 24860983, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006874	Process	Intracellular calcium ion homeostasis	ISS
GO:0006954	Process	Inflammatory response	IEA
GO:0007507	Process	Heart development	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0007519	Process	Skeletal muscle tissue development	TAS	7954791
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0008307	Function	Structural constituent of muscle	IBA
GO:0008307	Function	Structural constituent of muscle	IEA
GO:0008307	Function	Structural constituent of muscle	IMP	12507422
GO:0030017	Component	Sarcomere	IEA
GO:0030018	Component	Z disc	IBA
GO:0030018	Component	Z disc	IDA	12507422, 24860983
GO:0030018	Component	Z disc	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0031433	Function	Telethonin binding	IDA	12507422
GO:0031433	Function	Telethonin binding	IEA
GO:0031433	Function	Telethonin binding	IPI	15582318
GO:0033292	Process	T-tubule organization	IEA
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035995	Process	Detection of muscle stretch	IEA
GO:0035995	Process	Detection of muscle stretch	IMP	12507422
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	24860983
GO:0042805	Function	Actinin binding	IBA
GO:0042805	Function	Actinin binding	IEA
GO:0042805	Function	Actinin binding	ISS	12507422
GO:0045214	Process	Sarcomere organization	IBA
GO:0045214	Process	Sarcomere organization	IMP	12507422
GO:0045662	Process	Negative regulation of myoblast differentiation	IDA	24860983
GO:0045663	Process	Positive regulation of myoblast differentiation	IDA	24860983
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	9234731
GO:0046716	Process	Muscle cell cellular homeostasis	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048738	Process	Cardiac muscle tissue development	IEA
GO:0048738	Process	Cardiac muscle tissue development	ISS
GO:0055003	Process	Cardiac myofibril assembly	IEA
GO:0055003	Process	Cardiac myofibril assembly	ISS	12507422
GO:0060048	Process	Cardiac muscle contraction	IBA
GO:0060048	Process	Cardiac muscle contraction	IEA
GO:0060048	Process	Cardiac muscle contraction	IMP	12507422
GO:0060537	Process	Muscle tissue development	IBA
GO:0072594	Process	Establishment of protein localization to organelle	IMP	12507422
GO:0141212	Process	Phospholipase C/protein kinase C signal transduction	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IEA
GO:1903919	Process	Negative regulation of actin filament severing	IDA	24860983
GO:1903920	Process	Positive regulation of actin filament severing	IDA	24860983

MIM	HGNC	e!Ensembl
600824	2472	ENSG00000129170

P50461

Protein name

Cysteine and glycine-rich protein 3 (Cardiac LIM protein) (Cysteine-rich protein 3) (CRP3) (LIM domain protein, cardiac) (Muscle LIM protein)

Protein function

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 functi

PDB

2O10 , 2O13

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00412	LIM	10 → 66	LIM domain	Domain
PF00412	LIM	120 → 176	LIM domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Cardiac and slow-twitch skeletal muscles. Isoform 2 is expressed in striated muscle. Isoform 2 is specifically expressed at higher levels in patients with neuromuscular diseases, such as limb-girdle muscular dystrophy 2A (LGMD2A), Duch

Sequence

MPNWGGGAKCGACEKTVYHAEEIQCNGRSFHKTCFHCMACRKALDSTTVAAHESEIYCKV
CYGRRYGPKGIGYGQGAGCLSTDTGEHLGLQFQQSPKPARSVTTSNPSKFTAKFGESEKC
PRCGKSVYAAEKVMGGGKPWHKTCFRCAICGKSLESTNVTDKDGELYCKVCYAKNFGPTG
IGFGGLTQQVEKKE

Sequence length

194

Interactions

View interactions

	KEGG
	Cytoskeleton in muscle cells

941

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cardiomyopathy	Likely pathogenic; Pathogenic	rs2494220581, rs761507504, rs902082118, rs1850628800, rs935867046	RCV002282800 RCV000769298 RCV000769302 RCV001170940 RCV001170409
Cardiovascular phenotype	Pathogenic; Likely pathogenic	rs1336937886, rs761507504, rs104894204, rs935867046	RCV004996005 RCV000617264 RCV002399315 RCV004032921
Dilated cardiomyopathy 1M	Pathogenic; Likely pathogenic	rs1336937886, rs2133511280, rs2133516329, rs863224716, rs761507504, rs2494223496, rs935867046, rs2494223112, rs2494223132, rs902082118, rs1554968138, rs1554967541, rs759305806, rs1850628800, rs1850523074, rs766395852, rs776444956 View all (2 more)	RCV001885178 RCV001964172 RCV001931050 RCV000198698 RCV000203888 RCV003795538 RCV003804315 RCV003802908 RCV003802267 RCV001861413 RCV000653696 RCV000653697 RCV000811964 RCV001325848 RCV003769837 RCV001305556 RCV001308738 RCV001306690
Hypertrophic cardiomyopathy	Likely pathogenic	rs759269008	RCV001283727
Hypertrophic cardiomyopathy 12	Pathogenic; Likely pathogenic	rs1336937886, rs2133511280, rs2133516329, rs281865416, rs863224716, rs761507504, rs104894204, rs2494223496, rs935867046, rs2494223112, rs2494223132, rs902082118, rs1554968138, rs1554967541, rs759305806 View all (4 more)	RCV001885178 RCV001964172 RCV001931050 RCV000009324 RCV000198698 RCV000203888 RCV000009322 RCV003795538 RCV003804315 RCV003802908 RCV003802267 RCV001861413 RCV000653696 RCV000653697 RCV000811964 RCV001325848 RCV003769837 RCV001305556 RCV001308738 RCV001306690
Primary dilated cardiomyopathy	Pathogenic; Likely pathogenic	rs1565050320, rs876657767, rs1565053085, rs1565053147	RCV000710027 RCV000710026 RCV000710023 RCV000710022
Primary familial hypertrophic cardiomyopathy	Likely pathogenic; Pathogenic	rs761507504	RCV003401104

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CSRP3-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	rs142019584, rs45550635, rs780917755, rs2494223190, rs142832902, rs767932680, rs145300736, rs138218523, rs45582433, rs766621810	RCV004532673 RCV004532315 RCV004734885 RCV004527901 RCV004539818 RCV004533264 RCV004734550 RCV004534801 RCV004534802 RCV004533572
Dilated Cardiomyopathy, Dominant	Uncertain significance; Likely benign	rs138573509, rs34865888, rs886048098, rs886048103, rs886048102, rs59444364	RCV000308972 RCV000323345 RCV000349931 RCV000330351 RCV000374537 RCV000294848
Hypertrophic cardiomyopathy 1	Uncertain significance; Conflicting classifications of pathogenicity	rs727504436, rs863225265, rs104894205, rs1436046253, rs1318623802	RCV001256872 RCV000201925 RCV005646841 RCV001256873 RCV001256875
Prolonged QT interval	Uncertain significance	rs377066670	RCV000498289
See cases	Conflicting classifications of pathogenicity	rs104894205	RCV003231096
Sudden unexplained death	Conflicting classifications of pathogenicity	rs45550635	RCV000999619

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Cardiomegaly	Associate	35384713
Cardiomyopathies	Associate	22194935, 29222138, 33176267, 35241752, 36270459
Cardiomyopathy Dilated	Associate	15582318, 16352453, 20201937, 31406109, 33176267, 35241752
Cardiomyopathy Hypertrophic	Associate	15582318, 16352453, 22429680, 30681346, 31406109, 31919335, 35241752, 35384713, 37431535, 39971408
Cardiomyopathy Hypertrophic Familial	Associate	35384713
familial dilated cardiomyopathy	Associate	19412328
Heart Failure	Associate	31406109, 33176267
Hypertrophy	Associate	33176267
Hypertrophy Left Ventricular	Associate	30681346
Mitochondrial Diseases	Associate	31406109
Muscular Diseases	Inhibit	31406109
Prostatitis	Associate	11326315
Squamous Cell Carcinoma of Head and Neck	Associate	35132271

CSRP3 (cysteine and glycine rich protein 3)