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 regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been f... See more...

Aliases for GAP43 Gene

Aliases for GAP43 Gene

  • Growth Associated Protein 43 2 3 5
  • Axonal Membrane Protein GAP-43 2 3 4
  • Neural Phosphoprotein B-50 2 3 4
  • Neuromodulin 2 3 4
  • Neuron Growth-Associated Protein 43 2 3
  • Nerve Growth-Related Peptide GAP43 2 3
  • Calmodulin-Binding Protein P-57 2 3
  • Protein F1 2 3
  • Growth-Associated Protein 43 4
  • B-50 3
  • PP46 3
  • Pp46 4

External Ids for GAP43 Gene

Previous GeneCards Identifiers for GAP43 Gene

  • GC03P112171
  • GC03P114924
  • GC03P116623
  • GC03P116663
  • GC03P116825
  • GC03P115342
  • GC03P112715

Summaries for GAP43 Gene

Entrez Gene Summary for GAP43 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 regenerative response in the nervous system. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for GAP43 Gene

GAP43 (Growth Associated Protein 43) is a Protein Coding gene. Diseases associated with GAP43 include Myositis Fibrosa and Developmental Coordination Disorder. Among its related pathways are Developmental Biology and L1CAM interactions. Gene Ontology (GO) annotations related to this gene include calmodulin binding. An important paralog of this gene is SPA17.

UniProtKB/Swiss-Prot Summary for GAP43 Gene

  • 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.

Gene Wiki entry for GAP43 Gene

Additional gene information for GAP43 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GAP43 Gene

Genomics for GAP43 Gene

GeneHancer (GH) Regulatory Elements for GAP43 Gene

Promoters and enhancers for GAP43 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J115623 Promoter/Enhancer 1.9 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 753.1 +1.9 1874 4.4 ZNF362 SP1 MAFK PRDM1 PRDM10 ZNF544 PATZ1 POLR2A ZNF692 ZNF316 GAP43 ENSG00000241596
GH03J115547 Promoter 0.3 EPDnew 760.4 -75.5 -75496 0.1 GAP43 HSALNG0028193 ENSG00000242880
GH03J115657 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 10.5 +35.5 35526 3.1 ZNF24 ZBTB40 SMARCE1 ETV6 L3MBTL2 POLR2A GTF2F1 ZFX MAFK MLLT1 ENSG00000241596 GAP43 KR153194-135
GH03J115512 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 10.6 -110.3 -110315 1.8 ZNF362 SP1 SP7 PRDM1 PKNOX1 CREB1 ZIC2 PRDM10 ZEB2 POLR2A GAP43 piR-52294-093 ENSG00000287795 ENSG00000242880
GH03J115692 Enhancer 0.9 Ensembl ENCODE 10.4 +70.1 70087 1.8 CTCF CC2D1A RAD21 ELF3 SP7 KAT8 PKNOX1 CEBPA RXRA REST GAP43 KR153194-135 piR-55029-006
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GAP43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GAP43 gene promoter:
  • AML1a
  • C/EBPalpha
  • Chx10
  • CREB
  • CUTL1
  • deltaCREB
  • LCR-F1
  • MAZR
  • MyoD
  • SRY

Genomic Locations for GAP43 Gene

Genomic Locations for GAP43 Gene
chr3:115,623,304-115,721,490
(GRCh38/hg38)
Size:
98,187 bases
Orientation:
Plus strand
chr3:115,342,151-115,440,337
(GRCh37/hg19)
Size:
98,187 bases
Orientation:
Plus strand

Genomic View for GAP43 Gene

Genes around GAP43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GAP43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GAP43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GAP43 Gene

Proteins for GAP43 Gene

  • Protein details for GAP43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P17677-NEUM_HUMAN
    Recommended name:
    Neuromodulin
    Protein Accession:
    P17677
    Secondary Accessions:
    • A8K0Y4

    Protein attributes for GAP43 Gene

    Size:
    238 amino acids
    Molecular mass:
    24803 Da
    Quaternary structure:
    • Identified in a complex containing FGFR4, NCAM1, CDH2, PLCG1, FRS2, SRC, SHC1, GAP43 and CTTN. Binds calmodulin with a greater affinity in the absence of Ca(2+) than in its presence.

    Alternative splice isoforms for GAP43 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for GAP43 Gene

Post-translational modifications for GAP43 Gene

  • Phosphorylated at Ser-41 by PHK. Phosphorylation of this protein by a protein kinase C is specifically correlated with certain forms of synaptic plasticity.
  • Palmitoylation by ARF6 is essential for plasma membrane association and axonal and dendritic filopodia induction. Deacylated by LYPLA2.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GAP43 Gene

Antibody Products

  • Abcam antibodies for GAP43

No data available for DME Specific Peptides for GAP43 Gene

Domains & Families for GAP43 Gene

Gene Families for GAP43 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Transporters

Suggested Antigen Peptide Sequences for GAP43 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ78058 (A8K0Y4_HUMAN)
  • pp46 (NEUM_HUMAN)
  • cDNA, FLJ94238, Homo sapiens growth associated protein 43 (GAP43), mRNA (Q5U058_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P17677

UniProtKB/Swiss-Prot:

NEUM_HUMAN :
  • Belongs to the neuromodulin family.
Family:
  • Belongs to the neuromodulin family.
genes like me logo Genes that share domains with GAP43: view

Function for GAP43 Gene

Molecular function for GAP43 Gene

UniProtKB/Swiss-Prot 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.
GENATLAS Biochemistry:
growth associated protein 43,expressed in elongating terminals of neurites,located in granules diffusely dispersed throughout the anterior horn neuropil and at the surface of horn cells,overexpressed in amyotropic lateral sclerosis,component of neurons regenerative response

Phenotypes From GWAS Catalog for GAP43 Gene

Gene Ontology (GO) - Molecular Function for GAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001786 phosphatidylserine binding IBA 21873635
GO:0005515 protein binding IPI 9139733
GO:0005516 calmodulin binding IBA 21873635
GO:0035727 lysophosphatidic acid binding IBA 21873635
GO:1901981 phosphatidylinositol phosphate binding IBA 21873635
genes like me logo Genes that share ontologies with GAP43: view
genes like me logo Genes that share phenotypes with GAP43: view

Animal Models for GAP43 Gene

MGI Knock Outs for GAP43:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAP43

Clone Products

  • Addgene plasmids for GAP43

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GAP43 Gene

Localization for GAP43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GAP43 Gene

Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, growth cone membrane; Peripheral membrane protein; Cytoplasmic side. Cell junction, synapse. Cell projection, filopodium membrane; Peripheral membrane protein. Note=Cytoplasmic surface of growth cone and synaptic plasma membranes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GAP43 gene
Compartment Confidence
plasma membrane 5
mitochondrion 3
cytoskeleton 2
nucleus 2
cytosol 2
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IBA 21873635
GO:0005886 plasma membrane IBA,TAS --
GO:0014069 postsynaptic density IEA,IBA 21873635
GO:0016020 membrane IEA --
GO:0030054 cell junction IEA --
genes like me logo Genes that share ontologies with GAP43: view

Pathways & Interactions for GAP43 Gene

genes like me logo Genes that share pathways with GAP43: view

Pathways by source for GAP43 Gene

2 Cell Signaling Technology pathways for GAP43 Gene

SIGNOR curated interactions for GAP43 Gene

Other effect:

Gene Ontology (GO) - Biological Process for GAP43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007205 protein kinase C-activating G protein-coupled receptor signaling pathway TAS 3272162
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IBA 21873635
GO:0007411 axon guidance IEA --
GO:0009611 response to wounding TAS 3272162
genes like me logo Genes that share ontologies with GAP43: view

Drugs & Compounds for GAP43 Gene

(41) Drugs for GAP43 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(25) Additional Compounds for GAP43 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with GAP43: view

Transcripts for GAP43 Gene

mRNA/cDNA for GAP43 Gene

(2) REFSEQ mRNAs :
(10) Additional mRNA sequences :
(225) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GAP43

Clone Products

  • Addgene plasmids for GAP43

Alternative Splicing Database (ASD) splice patterns (SP) for GAP43 Gene

No ASD Table

Relevant External Links for GAP43 Gene

GeneLoc Exon Structure for
GAP43
ECgene alternative splicing isoforms for
GAP43

Expression for GAP43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GAP43 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for GAP43 Gene

This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x8.3), Brain - Frontal Cortex (BA9) (x7.5), Brain - Cortex (x7.1), Brain - Amygdala (x5.1), and Brain - Hypothalamus (x5.1).

Protein differential expression in normal tissues from HIPED for GAP43 Gene

This gene is overexpressed in Brain (24.8), Fetal Brain (19.8), and Frontal cortex (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for GAP43 Gene



Protein tissue co-expression partners for GAP43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GAP43 Gene:

GAP43

SOURCE GeneReport for Unigene cluster for GAP43 Gene:

Hs.134974

Evidence on tissue expression from TISSUES for GAP43 Gene

  • Nervous system(5)
  • Intestine(2.9)
  • Eye(2.5)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with GAP43: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GAP43 Gene

Orthologs for GAP43 Gene

This gene was present in the common ancestor of chordates.

Orthologs for GAP43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GAP43 33 32
  • 96.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia GAP43 33 32
  • 88.38 (n)
OneToOne
dog
(Canis familiaris)
Mammalia GAP43 33 32
  • 87.82 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Gap43 17 33 32
  • 81.86 (n)
rat
(Rattus norvegicus)
Mammalia Gap43 32
  • 81.19 (n)
oppossum
(Monodelphis domestica)
Mammalia GAP43 33
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves GAP43 33 32
  • 77.49 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GAP43 33
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gap43 32
  • 61.11 (n)
African clawed frog
(Xenopus laevis)
Amphibia gap43-prov 32
zebrafish
(Danio rerio)
Actinopterygii gap43 33 32
  • 39 (a)
OneToOne
Species where no ortholog for GAP43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for GAP43 Gene

ENSEMBL:
Gene Tree for GAP43 (if available)
TreeFam:
Gene Tree for GAP43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for GAP43: view image

Paralogs for GAP43 Gene

Paralogs for GAP43 Gene

(1) SIMAP similar genes for GAP43 Gene using alignment to 2 proteins:

  • NEUM_HUMAN
  • Q5U058_HUMAN
genes like me logo Genes that share paralogs with GAP43: view

Variants for GAP43 Gene

Sequence variations from dbSNP and Humsavar for GAP43 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1000027277 -- 115,714,040(+) G/A intron_variant
rs1000043573 -- 115,661,845(+) T/A genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000044539 -- 115,629,078(+) C/A genic_upstream_transcript_variant, intron_variant
rs1000076106 -- 115,662,103(+) G/A 5_prime_UTR_variant, intron_variant
rs1000097371 -- 115,706,966(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GAP43 Gene

Variant ID Type Subtype PubMed ID
esv1060470 CNV insertion 17803354
esv2672570 CNV deletion 23128226
esv3321631 CNV insertion 20981092
esv3354785 CNV insertion 20981092
esv3442342 CNV insertion 20981092
esv3597478 CNV loss 21293372

Variation tolerance for GAP43 Gene

Residual Variation Intolerance Score: 25.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.96; 19.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GAP43 Gene

Human Gene Mutation Database (HGMD)
GAP43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GAP43

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GAP43 Gene

Disorders for GAP43 Gene

MalaCards: The human disease database

(10) MalaCards diseases for GAP43 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
myositis fibrosa
  • interstitial myositis
developmental coordination disorder
  • motor skills disorders
cone-rod dystrophy 12
  • cord12
pneumonic plague
  • primary pneumonic plague
status epilepticus
  • grand mal status
- elite association - COSMIC cancer census association via MalaCards
Search GAP43 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GAP43

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GAP43: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GAP43 Gene

Publications for GAP43 Gene

  1. Structure of the human gene for the neural phosphoprotein B-50 (GAP-43). (PMID: 8231732) Nielander HB … Schotman P (Brain research. Molecular brain research 1993) 2 3 4 23 56
  2. Human GAP-43: its deduced amino acid sequence and chromosomal localization in mouse and human. (PMID: 3272162) Kosik KS … Neve RL (Neuron 1988) 2 3 4 56
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  4. Acyl-protein thioesterase 2 catalyzes the deacylation of peripheral membrane-associated GAP-43. (PMID: 21152083) Tomatis VM … Daniotti JL (PloS one 2010) 3 4 56
  5. Growth-associated protein 43 (GAP-43) and synaptophysin alterations in the dentate gyrus of patients with schizophrenia. (PMID: 15694236) Chambers JS … Perrone-Bizzozero NI (Progress in neuro-psychopharmacology & biological psychiatry 2005) 3 23 56

Products for GAP43 Gene

Sources for GAP43 Gene