ENSG00000162614


Homo sapiens

Features
Gene ID: ENSG00000162614
  
Biological name :NEXN
  
Synonyms : nexilin F-actin binding protein / NEXN / Q0ZGT2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: p31.1
Gene start: 77888513
Gene end: 77943895
  
Corresponding Affymetrix probe sets: 1552309_a_at (Human Genome U133 Plus 2.0 Array)   226103_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000411902
Ensembl peptide - ENSP00000333938
Ensembl peptide - ENSP00000343928
Ensembl peptide - ENSP00000383814
Ensembl peptide - ENSP00000327363
NCBI entrez gene - 91624     See in Manteia.
OMIM - 613121
RefSeq - XM_005271327
RefSeq - NM_144573
RefSeq - XM_005271322
RefSeq - XM_005271323
RefSeq - XM_005271324
RefSeq - XM_005271325
RefSeq - XM_005271326
RefSeq - NM_001172309
RefSeq Peptide - NP_001165780
RefSeq Peptide - NP_653174
swissprot - E7EUA0
swissprot - H7BXY5
swissprot - Q0ZGT2
swissprot - E7ETM8
Ensembl - ENSG00000162614
  
Related genetic diseases (OMIM): 613122 - Cardiomyopathy, dilated, 1CC, 613122
  613876 - Cardiomyopathy, hypertrophic, 20, 613876
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
 nexnENSDARG00000057317Danio rerio
 NEXNENSGALG00000008945Gallus gallus
 NexnENSMUSG00000039103Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR003599  Immunoglobulin subtype
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013783  Immunoglobulin-like fold
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030334 regulation of cell migration IDA
 biological_processGO:0048739 cardiac muscle fiber development IBA
 biological_processGO:0051493 regulation of cytoskeleton organization IEP
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005912 adherens junction IEA
 cellular_componentGO:0005925 focal adhesion HDA
 cellular_componentGO:0030018 Z disc ISS
 cellular_componentGO:0030054 cell junction IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0008307 structural constituent of muscle IMP
 molecular_functionGO:0051015 actin filament binding IDA


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: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:0005110 Atrial fibrillation 
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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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