ENSG00000102003


Homo sapiens

Features
Gene ID: ENSG00000102003
  
Biological name :SYP
  
Synonyms : P08247 / synaptophysin / SYP
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: -1
Band: p11.23
Gene start: 49187804
Gene end: 49200259
  
Corresponding Affymetrix probe sets: 213200_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000365480
Ensembl peptide - ENSP00000418987
Ensembl peptide - ENSP00000263233
Ensembl peptide - ENSP00000420774
Ensembl peptide - ENSP00000418169
Ensembl peptide - ENSP00000418387
NCBI entrez gene - 6855     See in Manteia.
OMIM - 313475
RefSeq - NM_003179
RefSeq Peptide - NP_003170
swissprot - F2Z3E1
swissprot - G5E9A2
swissprot - H7C4W3
swissprot - P08247
Ensembl - ENSG00000102003
  
Related genetic diseases (OMIM): 300802 - Mental retardation, X-linked 96, 300802
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
 sypaENSDARG00000110528Danio rerio
 sypbENSDARG00000002230Danio rerio
 SypENSMUSG00000031144Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SYNPR / Q8TBG9 / synaptoporinENSG0000016363054
SYPL2 / Q5VXT5 / synaptophysin like 2ENSG0000014302836
SYPL1 / Q16563 / synaptophysin like 1ENSG0000000828233


Protein motifs (from Interpro)
Interpro ID Name
 IPR001285  Synaptophysin/synaptoporin
 IPR008253  Marvel domain
 IPR028714  Synaptophysin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006897 endocytosis ISS
 biological_processGO:0016188 synaptic vesicle maturation NAS
 biological_processGO:0048168 regulation of neuronal synaptic plasticity IEA
 biological_processGO:0048169 regulation of long-term neuronal synaptic plasticity ISS
 biological_processGO:0048172 regulation of short-term neuronal synaptic plasticity ISS
 biological_processGO:0048488 synaptic vesicle endocytosis IEA
 biological_processGO:0048499 synaptic vesicle membrane organization NAS
 biological_processGO:0071310 cellular response to organic substance IEA
 biological_processGO:2000474 regulation of opioid receptor signaling pathway ISS
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030285 integral component of synaptic vesicle membrane NAS
 cellular_componentGO:0030672 synaptic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0031594 neuromuscular junction IEA
 cellular_componentGO:0042734 presynaptic membrane IEA
 cellular_componentGO:0043005 neuron projection ISS
 cellular_componentGO:0043195 terminal bouton IEA
 cellular_componentGO:0044306 neuron projection terminus IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0048786 presynaptic active zone IEA
 cellular_componentGO:0060076 excitatory synapse IEA
 molecular_functionGO:0015485 cholesterol binding IDA
 molecular_functionGO:0042169 SH2 domain binding IEA
 molecular_functionGO:0042802 identical protein binding IEA
 molecular_functionGO:0043621 protein self-association TAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001423 X-linked dominant inheritance "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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