ENSG00000077522


Homo sapiens

Features
Gene ID: ENSG00000077522
  
Biological name :ACTN2
  
Synonyms : actinin alpha 2 / ACTN2 / P35609
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q43
Gene start: 236686454
Gene end: 236764631
  
Corresponding Affymetrix probe sets: 203861_s_at (Human Genome U133 Plus 2.0 Array)   203862_s_at (Human Genome U133 Plus 2.0 Array)   203863_at (Human Genome U133 Plus 2.0 Array)   203864_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000355537
Ensembl peptide - ENSP00000438384
Ensembl peptide - ENSP00000443495
NCBI entrez gene - 88     See in Manteia.
OMIM - 102573
RefSeq - NM_001103
RefSeq - NM_001278343
RefSeq - NM_001278344
RefSeq Peptide - NP_001094
RefSeq Peptide - NP_001265272
RefSeq Peptide - NP_001265273
swissprot - P35609
swissprot - F6THM6
Ensembl - ENSG00000077522
  
Related genetic diseases (OMIM): 612158 - Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158
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
 actn2bENSDARG00000071090Danio rerio
 ACTN2ENSGALG00000014463Gallus gallus
 Actn2ENSMUSG00000052374Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ACTN1 / P12814 / actinin alpha 1ENSG0000007211080
ACTN4 / O43707 / actinin alpha 4ENSG0000013040277
ACTN3 / Q08043 / actinin alpha 3 (gene/pseudogene)ENSG0000024874677
Q9NRC6 / SPTBN5 / spectrin beta, non-erythrocytic 5ENSG0000013787731
O15020 / SPTBN2 / spectrin beta, non-erythrocytic 2ENSG0000017389829
Q01082 / SPTBN1 / spectrin beta, non-erythrocytic 1ENSG0000011530629
Q9H254 / SPTBN4 / spectrin beta, non-erythrocytic 4ENSG0000016046028
SPTB / P11277 / spectrin beta, erythrocyticENSG0000007018228
Q13813 / SPTAN1 / spectrin alpha, non-erythrocytic 1ENSG0000019769419
SPTA1 / P02549 / spectrin alpha, erythrocytic 1ENSG0000016355416


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR002048  EF-hand domain
 IPR011992  EF-hand domain pair
 IPR014837  EF-hand, Ca insensitive
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000165 MAPK cascade TAS
 biological_processGO:0002576 platelet degranulation TAS
 biological_processGO:0006936 muscle contraction IEA
 biological_processGO:0007155 cell adhesion TAS
 biological_processGO:0030035 microspike assembly IDA
 biological_processGO:0030049 muscle filament sliding TAS
 biological_processGO:0042391 regulation of membrane potential IMP
 biological_processGO:0042981 regulation of apoptotic process NAS
 biological_processGO:0043267 negative regulation of potassium ion transport IMP
 biological_processGO:0043268 positive regulation of potassium ion transport IDA
 biological_processGO:0045214 sarcomere organization IMP
 biological_processGO:0048041 focal adhesion assembly IMP
 biological_processGO:0051289 protein homotetramerization IDA
 biological_processGO:0051695 actin filament uncapping IMP
 biological_processGO:0055013 cardiac muscle cell development IEA
 biological_processGO:0072659 protein localization to plasma membrane IMP
 biological_processGO:0086097 phospholipase C-activating angiotensin-activated signaling pathway IMP
 biological_processGO:1901017 negative regulation of potassium ion transmembrane transporter activity IMP
 biological_processGO:1901018 positive regulation of potassium ion transmembrane transporter activity IDA
 biological_processGO:1903506 regulation of nucleic acid-templated transcription IEA
 biological_processGO:2000009 negative regulation of protein localization to cell surface IMP
 biological_processGO:2001137 positive regulation of endocytic recycling IMP
 biological_processGO:2001259 positive regulation of cation channel activity IMP
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton NAS
 cellular_componentGO:0005884 actin filament TAS
 cellular_componentGO:0005886 plasma membrane IDA
 cellular_componentGO:0005925 focal adhesion IMP
 cellular_componentGO:0030017 sarcomere IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030175 filopodium IDA
 cellular_componentGO:0030864 cortical actin cytoskeleton IEA
 cellular_componentGO:0031093 platelet alpha granule lumen TAS
 cellular_componentGO:0031143 pseudopodium TAS
 cellular_componentGO:0043197 dendritic spine TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005088 Ras guanyl-nucleotide exchange factor activity TAS
 molecular_functionGO:0005178 integrin binding TAS
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0005546 phosphatidylinositol-4,5-bisphosphate binding IDA
 molecular_functionGO:0008092 cytoskeletal protein binding IDA
 molecular_functionGO:0008307 structural constituent of muscle TAS
 molecular_functionGO:0019904 protein domain specific binding IPI
 molecular_functionGO:0030274 LIM domain binding IEA
 molecular_functionGO:0030374 nuclear receptor transcription coactivator activity IEA
 molecular_functionGO:0030375 thyroid hormone receptor coactivator activity IEA
 molecular_functionGO:0031432 titin binding IPI
 molecular_functionGO:0042802 identical protein binding IPI
 molecular_functionGO:0042803 protein homodimerization activity IMP
 molecular_functionGO:0044325 ion channel binding IPI
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046983 protein dimerization activity IDA
 molecular_functionGO:0051015 actin filament binding IEA
 molecular_functionGO:0051373 FATZ binding IDA
 molecular_functionGO:0070080 titin Z domain binding IMP


Pathways (from Reactome)
Pathway description
Platelet degranulation
Nephrin family interactions
Striated Muscle Contraction
Unblocking of NMDA receptor, glutamate binding and activation
CREB phosphorylation through the activation of CaMKII
Ras activation upon Ca2+ influx through NMDA receptor
RAF/MAP kinase cascade


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:0001644 Dilated cardiomyopathy 
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 HP:0001678 Atrioventricular block 
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 HP:0001695 Cardiac arrest 
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 HP:0001706 Endocardial fibroelastosis 
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 HP:0001712 Left ventricular hypertrophy 
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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:0003812 Phenotypic variability 
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 HP:0004755 Supraventricular tachyarrhythmias 
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 HP:0005110 Atrial fibrillation 
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 HP:0006685 Endocardial fibrosis "The presence of excessive connective tissue in the `endocardium` (FMA:7280)." [HPO:probinson]
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 HP:0030682 Left ventricular noncompaction "Left ventricular noncompaction (LVNC) is defined by 3 markers: prominent left ventricular (LV) trabeculae, deep intertrabecular recesses, and the thin compacted layer." [PMID:16670098, PMID:25443708]
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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
 ENSG00000033122 LRRC7 / Q96NW7 / leucine rich repeat containing 7  / complex
 ENSG00000082458 DLG3 / Q92796 / discs large MAGUK scaffold protein 3  / complex
 ENSG00000113319 O14827 / RASGRF2 / Ras protein specific guanine nucleotide releasing factor 2  / complex / reaction
 ENSG00000120251 GRIA2 / P42262 / glutamate ionotropic receptor AMPA type subunit 2  / reaction
 ENSG00000058404 CAMK2B / Q13554 / calcium/calmodulin dependent protein kinase II beta  / complex / reaction
 ENSG00000155511 GRIA1 / P42261 / glutamate ionotropic receptor AMPA type subunit 1  / reaction
 ENSG00000152578 GRIA4 / P48058 / glutamate ionotropic receptor AMPA type subunit 4  / reaction
 ENSG00000150672 DLG2 / Q15700 / discs large MAGUK scaffold protein 2  / complex
 ENSG00000132535 DLG4 / P78352 / discs large MAGUK scaffold protein 4  / complex
 ENSG00000148660 CAMK2G / Q13555 / calcium/calmodulin dependent protein kinase II gamma  / complex / reaction
 ENSG00000145349 CAMK2D / Q13557 / calcium/calmodulin dependent protein kinase II delta  / complex / reaction
 ENSG00000183454 GRIN2A / Q12879 / glutamate ionotropic receptor NMDA type subunit 2A  / complex
 ENSG00000127914 AKAP9 / Q99996 / A-kinase anchoring protein 9  / complex
 ENSG00000070808 CAMK2A / Q9UQM7 / calcium/calmodulin dependent protein kinase II alpha  / complex / reaction
 ENSG00000161270 NPHS1 / O60500 / NPHS1, nephrin  / complex / reaction
 ENSG00000176884 GRIN1 / Q05586 / glutamate ionotropic receptor NMDA type subunit 1  / complex
 ENSG00000198668 CALM1 / P0DP23 / calmodulin 1  / reaction / complex
 ENSG00000075711 DLG1 / Q12959 / discs large MAGUK scaffold protein 1  / complex
 ENSG00000183853 Q96J84 / KIRREL1 / kirre like nephrin family adhesion molecule 1  / complex / reaction
 ENSG00000273079 GRIN2B / Q13224 / glutamate ionotropic receptor NMDA type subunit 2B  / complex
 ENSG00000174775 HRAS / P01112 / HRas proto-oncogene, GTPase  / reaction
 ENSG00000077522 ACTN2 / P35609 / actinin alpha 2  / complex
 ENSG00000277586 NEFL / P07196 / neurofilament light  / complex
 ENSG00000161509 GRIN2C / Q14957 / glutamate ionotropic receptor NMDA type subunit 2C  / complex
 ENSG00000105464 GRIN2D / O15399 / glutamate ionotropic receptor NMDA type subunit 2D  / complex
 ENSG00000058335 Q13972 / RASGRF1 / Ras protein specific guanine nucleotide releasing factor 1  / complex / reaction
 ENSG00000125675 GRIA3 / P42263 / glutamate ionotropic receptor AMPA type subunit 3  / reaction






 

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