ENSG00000181392


Homo sapiens

Features
Gene ID: ENSG00000181392
  
Biological name :SYNE4
  
Synonyms : Q8N205 / spectrin repeat containing nuclear envelope family member 4 / SYNE4
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 19
Strand: -1
Band: q13.12
Gene start: 36003299
Gene end: 36008793
  
Corresponding Affymetrix probe sets: 235515_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422716
Ensembl peptide - ENSP00000496471
Ensembl peptide - ENSP00000425550
Ensembl peptide - ENSP00000316130
Ensembl peptide - ENSP00000343152
Ensembl peptide - ENSP00000380572
NCBI entrez gene - 163183     See in Manteia.
OMIM - 615535
RefSeq - NM_001297735
RefSeq - NM_001039876
RefSeq Peptide - NP_001034965
RefSeq Peptide - NP_001284664
swissprot - Q8N205
swissprot - H0Y9Z1
swissprot - H9KVA3
swissprot - D6RAE3
Ensembl - ENSG00000181392
  
Related genetic diseases (OMIM): 615540 - Deafness, autosomal recessive 76, 615540
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
 Syne4ENSMUSG00000019737Mus musculus


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


Protein motifs (from Interpro)
Interpro ID Name
 IPR012315  KASH domain
 IPR030268  Nesprin-4


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0045198 establishment of epithelial cell apical/basal polarity IBA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005635 nuclear envelope IEA
 cellular_componentGO:0005640 nuclear outer membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0031309 integral component of nuclear outer membrane ISS
 cellular_componentGO:0034993 meiotic nuclear membrane microtubule tethering complex IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000408 Hearing loss, sensorineural, progressive 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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