ENSG00000129170


Homo sapiens

Features
Gene ID: ENSG00000129170
  
Biological name :CSRP3
  
Synonyms : CSRP3 / cysteine and glycine rich protein 3 / P50461
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: p15.1
Gene start: 19182030
Gene end: 19210573
  
Corresponding Affymetrix probe sets: 205553_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000265968
Ensembl peptide - ENSP00000431813
NCBI entrez gene - 8048     See in Manteia.
OMIM - 600824
RefSeq - NM_003476
RefSeq Peptide - NP_003467
swissprot - A2TDB8
swissprot - P50461
Ensembl - ENSG00000129170
  
Related genetic diseases (OMIM): 607482 - ?Cardiomyopathy, dilated, 1M, 607482
  612124 - Cardiomyopathy, hypertrophic, 12, 612124
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 csrp3ENSDARG00000101706Danio rerio
 CSRP3ENSGALG00000004044Gallus gallus
 Csrp3ENSMUSG00000030470Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CSRP1 / P21291 / cysteine and glycine rich protein 1ENSG0000015917666
CSRP2 / Q16527 / cysteine and glycine rich protein 2ENSG0000017518366
CRIP2 / P52943 / cysteine rich protein 2ENSG0000018280932
CRIP3 / Q6Q6R5 / cysteine rich protein 3ENSG0000014621532
CRIP1 / P50238 / cysteine rich protein 1ENSG0000021314517
AL928654.3ENSG0000025734117


Protein motifs (from Interpro)
Interpro ID Name
 IPR001781  Zinc finger, LIM-type


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002026 regulation of the force of heart contraction ISS
 biological_processGO:0003300 cardiac muscle hypertrophy IMP
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006874 cellular calcium ion homeostasis ISS
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007519 skeletal muscle tissue development TAS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0033365 protein localization to organelle IMP
 biological_processGO:0035995 detection of muscle stretch IMP
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IGI
 biological_processGO:0048738 cardiac muscle tissue development ISS
 biological_processGO:0055003 cardiac myofibril assembly ISS
 biological_processGO:0060048 cardiac muscle contraction IMP
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030018 Z disc IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008307 structural constituent of muscle IMP
 molecular_functionGO:0031433 telethonin binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042805 actinin binding ISS
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000982 Palmoplantar keratoderma 
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 HP:0001638 Cardiomyopathy 
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 HP:0001644 Dilated cardiomyopathy 
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 HP:0001645 Sudden cardiac death 
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 HP:0001706 Endocardial fibroelastosis 
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 HP:0001874 Abnormality of neutrophil 
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 HP:0003198 Myopathy 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003457 Abnormal EMG findings "Abnormal results of investigations using electromyography (EMG)." [HPO:curators]
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 HP:0004756 Ventricular tachycardia 
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 HP:0004757 paroxysmal atrial fibrillation 
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 HP:0006670 Impaired myocardial contractility 
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 HP:0100578 Lipoatrophy "Localized loss of fat tissue." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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