Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9145 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Synaptogyrin 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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SYNGR1 |
SynonymsGene synonyms aliases
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- |
ChromosomeChromosome number
|
22 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
22q13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
This gene encodes an integral membrane protein associated with presynaptic vesicles in neuronal cells. The exact function of this protein is unclear, but studies of a similar murine protein suggest that it functions in synaptic plasticity without being re |
miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
GO ID |
Ontology |
Definition |
Evidence |
Reference |
GO:0005515 |
Function |
Protein binding |
IPI |
25416956 |
GO:0005886 |
Component |
Plasma membrane |
TAS |
|
GO:0006605 |
Process |
Protein targeting |
IEA |
|
GO:0030285 |
Component |
Integral component of synaptic vesicle membrane |
IEA |
|
GO:0030672 |
Component |
Synaptic vesicle membrane |
IBA |
21873635 |
GO:0031594 |
Component |
Neuromuscular junction |
IBA |
21873635 |
GO:0035577 |
Component |
Azurophil granule membrane |
TAS |
|
GO:0042470 |
Component |
Melanosome |
IEA |
|
GO:0043312 |
Process |
Neutrophil degranulation |
TAS |
|
GO:0045055 |
Process |
Regulated exocytosis |
ISS |
|
GO:0048169 |
Process |
Regulation of long-term neuronal synaptic plasticity |
ISS |
|
GO:0048172 |
Process |
Regulation of short-term neuronal synaptic plasticity |
ISS |
|
GO:0048499 |
Process |
Synaptic vesicle membrane organization |
ISS |
|
GO:1990830 |
Process |
Cellular response to leukemia inhibitory factor |
IEA |
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
O43759 |
Protein name |
Synaptogyrin-1 |
Protein function |
May play a role in regulated exocytosis. Modulates the localization of synaptophysin/SYP into synaptic-like microvesicles and may therefore play a role in synaptic-like microvesicle formation and/or maturation (By similarity). Involved in the re |
PDB |
8A6M
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF01284 |
MARVEL |
20 → 167 |
Membrane-associating domain |
Domain |
|
Sequence |
|
Sequence length |
233 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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|
Associated diseases
|
Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Leukemia |
Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) |
rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601 |
17330099 |
Rheumatoid arthritis |
Rheumatoid Arthritis |
rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212 |
24390342, 30423114, 24532676 |
Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
16215643, 14732601, 17049558, 19665806, 19641478 |
|
Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bipolar disorder |
Bipolar Disorder |
|
16215643, 19665806 |
Lupus erythematosus |
Lupus Erythematosus, Systemic |
|
26808113 |
Myeloid leukemia |
Acute Myeloid Leukemia, M1 |
|
17330099 |
Nonbacterial verrucal endocardiosis |
Libman-Sacks Disease |
|
26808113 |
Biliary cirrhosis |
Primary biliary cirrhosis |
|
22936693, 22961000, 26394269 |
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