Gene Gene information from NCBI Gene database.
Entrez ID 2596
Gene name Growth associated protein 43
Gene symbol GAP43
Synonyms (NCBI Gene)
B-50GAP-43PP46
Chromosome 3
Chromosome location 3q13.31
Summary 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
miRNA miRNA information provided by mirtarbase database.
72
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA
GO:0001786 Function Phosphatidylserine binding IEA
GO:0005515 Function Protein binding IPI 9139733, 30664241, 32814053
GO:0005516 Function Calmodulin binding IBA
GO:0005516 Function Calmodulin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
162060 4140 ENSG00000172020
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    L1CAM interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DYSTHYMIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 2153893
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27604409 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 30342961, 3368468, 36611808, 36635346, 7566340, 7573369, 9011750 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32776690 Inhibit
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 1387517, 9631437
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia Pubtator 36739296 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30690892, 30776178
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 7573369
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 24301786
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial fibrillation Pubtator 24301786 Associate
★☆☆☆☆
Found in Text Mining only