ENSG00000074317


Homo sapiens

Features
Gene ID: ENSG00000074317
  
Biological name :SNCB
  
Synonyms : Q16143 / SNCB / synuclein beta
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q35.2
Gene start: 176620084
Gene end: 176630556
  
Corresponding Affymetrix probe sets: 207853_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000377296
Ensembl peptide - ENSP00000424073
Ensembl peptide - ENSP00000479489
Ensembl peptide - ENSP00000308057
Ensembl peptide - ENSP00000422223
NCBI entrez gene - 6620     See in Manteia.
OMIM - 602569
RefSeq - XM_011534640
RefSeq - NM_001001502
RefSeq - NM_001318034
RefSeq - NM_001318035
RefSeq - NM_001318036
RefSeq - NM_001318037
RefSeq - NM_003085
RefSeq - XM_006714914
RefSeq - XM_006714915
RefSeq - XM_006714916
RefSeq Peptide - NP_001304965
RefSeq Peptide - NP_001304966
RefSeq Peptide - NP_003076
RefSeq Peptide - NP_001304963
RefSeq Peptide - NP_001304964
RefSeq Peptide - NP_001001502
swissprot - Q16143
swissprot - G4Y816
Ensembl - ENSG00000074317
  
Related genetic diseases (OMIM): 127750 - Dementia, Lewy body, 127750
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
 sncbENSDARG00000104945Danio rerio
 SNCBENSGALG00000021542Gallus gallus
 SncbENSMUSG00000034891Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SNCA / P37840 / synuclein alphaENSG0000014533565
SNCG / O76070 / synuclein gammaENSG0000017326749


Protein motifs (from Interpro)
Interpro ID Name
 IPR001058  Synuclein
 IPR002461  Beta-synuclein


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007268 chemical synaptic transmission IEA
 biological_processGO:0010038 response to metal ion TAS
 biological_processGO:0042417 dopamine metabolic process IEA
 biological_processGO:0043086 negative regulation of catalytic activity IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0050808 synapse organization IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005739 mitochondrion IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016234 inclusion body IDA
 cellular_componentGO:0045202 synapse IEA
 molecular_functionGO:0004859 phospholipase inhibitor activity TAS
 molecular_functionGO:0005509 calcium ion binding IDA
 molecular_functionGO:0046914 transition metal ion binding IMP
 molecular_functionGO:1903136 cuprous ion binding IMP


Pathways (from Reactome)
Pathway description
MTF1 activates gene expression


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:0000726 Dementia 
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 HP:0000746 Delusions 
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 HP:0001300 Parkinsonism 
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 HP:0002367 Visual hallucinations 
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 HP:0007159 Fluctuations in consciousness 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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