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GAP43 (growth associated protein 43)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2596
Gene nameGene Name - the full gene name approved by the HGNC.
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.
GAP43
SynonymsGene synonyms aliases
B-50, GAP-43, PP46
ChromosomeChromosome number
3
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q13.31
SummarySummary of gene provided in NCBI Entrez Gene.
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.
miRTarBase ID miRNA Experiments Reference
MIRT489932 hsa-miR-890 PAR-CLIP 23592263
MIRT489931 hsa-miR-6758-5p PAR-CLIP 23592263
MIRT489930 hsa-miR-6856-5p PAR-CLIP 23592263
MIRT489929 hsa-miR-3125 PAR-CLIP 23592263
MIRT489928 hsa-miR-3916 PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA 21873635
GO:0005515 Function Protein binding IPI 9139733, 25893612, 30664241, 32814053
GO:0005516 Function Calmodulin binding IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005886 Component Plasma membrane IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
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.
 
Reactome
    L1CAM interactions
Associated diseases
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
Unknown
Disease name Disease term dbSNP ID References
Bipolar disorder Bipolar Disorder 11208668
Dysthymic disorder Dysthymic Disorder 11072752
Grand mal status epilepticus Grand Mal Status Epilepticus 10366005
Hodgkin disease Hodgkin Disease 22325380

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