ENSG00000054654


Homo sapiens

Features
Gene ID: ENSG00000054654
  
Biological name :SYNE2
  
Synonyms : Q8WXH0 / spectrin repeat containing nuclear envelope protein 2 / SYNE2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 14
Strand: 1
Band: q23.2
Gene start: 63852983
Gene end: 64226433
  
Corresponding Affymetrix probe sets: 1558392_at (Human Genome U133 Plus 2.0 Array)   202761_s_at (Human Genome U133 Plus 2.0 Array)   240777_at (Human Genome U133 Plus 2.0 Array)   242774_at (Human Genome U133 Plus 2.0 Array)   243841_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000452434
Ensembl peptide - ENSP00000451972
Ensembl peptide - ENSP00000452570
Ensembl peptide - ENSP00000492590
Ensembl peptide - ENSP00000492588
Ensembl peptide - ENSP00000492333
Ensembl peptide - ENSP00000341781
Ensembl peptide - ENSP00000344528
Ensembl peptide - ENSP00000349969
Ensembl peptide - ENSP00000350719
Ensembl peptide - ENSP00000391937
Ensembl peptide - ENSP00000450789
Ensembl peptide - ENSP00000450831
Ensembl peptide - ENSP00000451184
NCBI entrez gene - 23224     See in Manteia.
OMIM - 608442
RefSeq - XM_017021104
RefSeq - XM_005267458
RefSeq - XM_005267459
RefSeq - XM_011536574
RefSeq - XM_011536575
RefSeq - XM_011536576
RefSeq - XM_011536577
RefSeq - XM_011536578
RefSeq - XM_011536579
RefSeq - XM_011536580
RefSeq - XM_011536581
RefSeq - XM_011536582
RefSeq - XM_017021101
RefSeq - XM_017021102
RefSeq - XM_017021103
RefSeq - NM_015180
RefSeq - NM_182910
RefSeq - NM_182913
RefSeq - NM_182914
RefSeq - XM_005267454
RefSeq - XM_005267456
RefSeq - XM_005267457
RefSeq Peptide - NP_878917
RefSeq Peptide - NP_878918
RefSeq Peptide - NP_055995
RefSeq Peptide - NP_878914
swissprot - G3V3D4
swissprot - G3V4T3
swissprot - G3V5N1
swissprot - A0A1W2PS37
swissprot - Q8WXH0
swissprot - A0A0A0MRE3
swissprot - G3V5X4
swissprot - A0A1W2PRN9
swissprot - A0A0C4DGK3
swissprot - G3V2Q0
Ensembl - ENSG00000054654
  
Related genetic diseases (OMIM): 612999 - Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999
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
 si:ch211-207i1.2ENSDARG00000030107Danio rerio
 syne2bENSDARG00000053484Danio rerio
 SYNE2ENSGALG00000011811Gallus gallus
 Syne2ENSMUSG00000063450Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SYNE1 / Q8NF91 / spectrin repeat containing nuclear envelope protein 1ENSG0000013101830
FLNC / Q14315 / filamin CENSG000001285916
FLNB / O75369 / filamin BENSG000001360686
FLNA / P21333 / filamin AENSG000001969246
CLMN / calmin / Q96JQ2ENSG000001659594


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001715  Calponin homology domain
 IPR002017  Spectrin repeat
 IPR012315  KASH domain
 IPR018159  Spectrin/alpha-actinin
 IPR030266  Nesprin-2
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006998 nuclear envelope organization IEA
 biological_processGO:0007097 nuclear migration IMP
 biological_processGO:0007163 establishment or maintenance of cell polarity IEA
 biological_processGO:0010761 fibroblast migration IEA
 biological_processGO:0021817 nucleokinesis involved in cell motility in cerebral cortex radial glia guided migration IEA
 biological_processGO:0030335 positive regulation of cell migration IEA
 biological_processGO:0031022 nuclear migration along microfilament IEA
 biological_processGO:0034504 protein localization to nucleus IEA
 biological_processGO:0051642 centrosome localization IEA
 biological_processGO:0090286 cytoskeletal anchoring at nuclear membrane IEA
 biological_processGO:1902017 regulation of cilium assembly IEA
 cellular_componentGO:0005634 nucleus IDA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005925 focal adhesion IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0016235 aggresome IDA
 cellular_componentGO:0016529 sarcoplasmic reticulum IEA
 cellular_componentGO:0030016 myofibril IEA
 cellular_componentGO:0030018 Z disc IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0031258 lamellipodium membrane IDA
 cellular_componentGO:0031527 filopodium membrane IDA
 cellular_componentGO:0031965 nuclear membrane IDA
 cellular_componentGO:0031981 nuclear lumen IDA
 cellular_componentGO:0033017 sarcoplasmic reticulum membrane IEA
 cellular_componentGO:0034993 meiotic nuclear membrane microtubule tethering complex IEA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0051015 actin filament binding IEA


Pathways (from Reactome)
Pathway description
Meiotic synapsis


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:0001638 Cardiomyopathy 
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 HP:0002093 Respiratory insufficiency 
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003560 Muscular dystrophy "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators]
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 HP:0003701 Proximal muscle weakness "A lack of strength of the proximal muscles." [HPO:curators]
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 HP:0003812 Phenotypic variability 
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 HP:0007126 Proximal amyotrophy "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators]
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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 HP:0011675 Arrhythmia "Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both." [DDD:dbrown, pmid:19063792]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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