Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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2596 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Growth associated protein 43 |
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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GAP43 |
SynonymsGene synonyms aliases
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B-50, GAP-43, PP46 |
ChromosomeChromosome number
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3 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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3q13.31 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene has been termed a `growth` or `plasticity` protein because it is expressed at high levels in neuronal growth cones during development and axonal regeneration. This protein is considered a crucial component of an effective |
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.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P17677 |
Protein name |
Neuromodulin (Axonal membrane protein GAP-43) (Growth-associated protein 43) (Neural phosphoprotein B-50) (pp46) |
Protein function |
This protein is associated with nerve growth. It is a major component of the motile 'growth cones' that form the tips of elongating axons. Plays a role in axonal and dendritic filopodia induction. {ECO:0000269|PubMed:14978216, ECO:0000269|PubMed |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF10580 |
Neuromodulin_N |
2 → 31 |
Gap junction protein N-terminal region |
Domain |
PF00612 |
IQ |
32 → 52 |
IQ calmodulin-binding motif |
Motif |
PF06614 |
Neuromodulin |
67 → 238 |
Neuromodulin |
Family |
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Sequence |
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Sequence length |
238 |
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
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Colonic neoplasms |
Malignant tumor of colon, Colonic Neoplasms |
rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 |
15059925 |
Hirschsprung disease |
Hirschsprung Disease |
rs104893891, rs76262710, rs75075748, rs75996173, rs79014735, rs77316810, rs75076352, rs76087194, rs76534745, rs76764689, rs76449634, rs78098482, rs79661516, rs104894389, rs769735757, rs267606780, rs1568823467, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323, rs1057519052, rs1588873476, rs1588866040, rs1838178869 |
22325380 |
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 |
17012697, 22138049, 21145444, 11208668 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Bipolar disorder |
Bipolar Disorder |
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11208668 |
Dysthymic disorder |
Dysthymic Disorder |
|
11072752 |
Grand mal status epilepticus |
Grand Mal Status Epilepticus |
|
10366005 |
Hodgkin disease |
Hodgkin Disease |
|
22325380 |
Huntington disease |
Huntington Disease |
rs768047421 |
22325380 |
Mental depression |
Mental Depression, Depressive disorder |
rs587778876, rs587778877 |
9774774 |
Mood disorder |
Mood Disorders |
|
18615010 |
Nonconvulsive status epilepticus |
Non-Convulsive Status Epilepticus |
|
10366005 |
Petit mal status |
Petit mal status |
|
10366005 |
Status epilepticus |
Status Epilepticus, Complex Partial Status Epilepticus, Status Epilepticus, Subclinical |
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10366005 |
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