Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GAP43 (growth associated protein 43)

Identity

Alias_symbol (synonym)B-50
PP46
Other alias
HGNC (Hugo) GAP43
LocusID (NCBI) 2596
Atlas_Id 53398
Location 3q13.31  [Link to chromosome band 3q13]
Location_base_pair Starts at 115623304 and ends at 115721487 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LMNA (1q22) / GAP43 (3q13.31)LSAMP (3q13.31) / GAP43 (3q13.31)MAPKAPK5 (12q24.12) / GAP43 (3q13.31)
SEZ6L (22q12.1) / GAP43 (3q13.31)TMEM108 (3q22.1) / GAP43 (3q13.31)LSAMP 3q13.31 / GAP43 3q13.31
TMEM108 3q22.1 / GAP43 3q13.31

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)GAP43   4140
Cards
Entrez_Gene (NCBI)GAP43  2596  growth associated protein 43
AliasesB-50; PP46
GeneCards (Weizmann)GAP43
Ensembl hg19 (Hinxton)ENSG00000172020 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172020 [Gene_View]  chr3:115623304-115721487 [Contig_View]  GAP43 [Vega]
ICGC DataPortalENSG00000172020
TCGA cBioPortalGAP43
AceView (NCBI)GAP43
Genatlas (Paris)GAP43
WikiGenes2596
SOURCE (Princeton)GAP43
Genetics Home Reference (NIH)GAP43
Genomic and cartography
GoldenPath hg38 (UCSC)GAP43  -     chr3:115623304-115721487 +  3q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GAP43  -     3q13.31   [Description]    (hg19-Feb_2009)
EnsemblGAP43 - 3q13.31 [CytoView hg19]  GAP43 - 3q13.31 [CytoView hg38]
Mapping of homologs : NCBIGAP43 [Mapview hg19]  GAP43 [Mapview hg38]
OMIM162060   
Gene and transcription
Genbank (Entrez)AF279774 AK289699 AK290100 AK313658 AM392759
RefSeq transcript (Entrez)NM_001130064 NM_002045
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GAP43
Cluster EST : UnigeneHs.134974 [ NCBI ]
CGAP (NCI)Hs.134974
Alternative Splicing GalleryENSG00000172020
Gene ExpressionGAP43 [ NCBI-GEO ]   GAP43 [ EBI - ARRAY_EXPRESS ]   GAP43 [ SEEK ]   GAP43 [ MEM ]
Gene Expression Viewer (FireBrowse)GAP43 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2596
GTEX Portal (Tissue expression)GAP43
Protein : pattern, domain, 3D structure
UniProt/SwissProtP17677   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP17677  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP17677
Splice isoforms : SwissVarP17677
PhosPhoSitePlusP17677
Domaine pattern : Prosite (Expaxy)IQ (PS50096)    NEUROMODULIN_1 (PS00412)    NEUROMODULIN_2 (PS00413)   
Domains : Interpro (EBI)IQ_motif_EF-hand-BS    Neuromodulin    Neuromodulin_C    Neuromodulin_gap-junction_N    Neuromodulin_P_site    Neuromodulin_palmitoyl_site   
Domain families : Pfam (Sanger)IQ (PF00612)    Neuromodulin (PF06614)    Neuromodulin_N (PF10580)   
Domain families : Pfam (NCBI)pfam00612    pfam06614    pfam10580   
Domain families : Smart (EMBL)IQ (SM00015)  
Conserved Domain (NCBI)GAP43
DMDM Disease mutations2596
Blocks (Seattle)GAP43
SuperfamilyP17677
Human Protein AtlasENSG00000172020
Peptide AtlasP17677
HPRD01198
IPIIPI00015964   IPI00816835   IPI00791316   
Protein Interaction databases
DIP (DOE-UCLA)P17677
IntAct (EBI)P17677
FunCoupENSG00000172020
BioGRIDGAP43
STRING (EMBL)GAP43
ZODIACGAP43
Ontologies - Pathways
QuickGOP17677
Ontology : AmiGOphosphatidylserine binding  protein binding  calmodulin binding  cytoplasm  plasma membrane  plasma membrane  protein kinase C-activating G-protein coupled receptor signaling pathway  axon guidance  response to wounding  glial cell differentiation  postsynaptic density  axon choice point recognition  cell junction  axon  filopodium membrane  growth cone membrane  lysophosphatidic acid binding  regulation of growth  tissue regeneration  cell fate commitment  regulation of filopodium assembly  axon development  phosphatidylinositol phosphate binding  
Ontology : EGO-EBIphosphatidylserine binding  protein binding  calmodulin binding  cytoplasm  plasma membrane  plasma membrane  protein kinase C-activating G-protein coupled receptor signaling pathway  axon guidance  response to wounding  glial cell differentiation  postsynaptic density  axon choice point recognition  cell junction  axon  filopodium membrane  growth cone membrane  lysophosphatidic acid binding  regulation of growth  tissue regeneration  cell fate commitment  regulation of filopodium assembly  axon development  phosphatidylinositol phosphate binding  
NDEx NetworkGAP43
Atlas of Cancer Signalling NetworkGAP43
Wikipedia pathwaysGAP43
Orthology - Evolution
OrthoDB2596
GeneTree (enSembl)ENSG00000172020
Phylogenetic Trees/Animal Genes : TreeFamGAP43
HOVERGENP17677
HOGENOMP17677
Homologs : HomoloGeneGAP43
Homology/Alignments : Family Browser (UCSC)GAP43
Gene fusions - Rearrangements
Fusion : MitelmanLSAMP/GAP43 [3q13.31/3q13.31]  [t(3;3)(q13;q13)]  
Fusion : MitelmanMAPKAPK5/GAP43 [12q24.12/3q13.31]  [t(3;12)(q13;q24)]  
Fusion : MitelmanTMEM108/GAP43 [3q22.1/3q13.31]  [t(3;3)(q13;q22)]  
Fusion: TCGALSAMP 3q13.31 GAP43 3q13.31 BRCA
Fusion: TCGATMEM108 3q22.1 GAP43 3q13.31 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGAP43 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GAP43
dbVarGAP43
ClinVarGAP43
1000_GenomesGAP43 
Exome Variant ServerGAP43
ExAC (Exome Aggregation Consortium)GAP43 (select the gene name)
Genetic variants : HAPMAP2596
Genomic Variants (DGV)GAP43 [DGVbeta]
DECIPHERGAP43 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGAP43 
Mutations
ICGC Data PortalGAP43 
TCGA Data PortalGAP43 
Broad Tumor PortalGAP43
OASIS PortalGAP43 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGAP43  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGAP43
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GAP43
DgiDB (Drug Gene Interaction Database)GAP43
DoCM (Curated mutations)GAP43 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GAP43 (select a term)
intoGenGAP43
Cancer3DGAP43(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM162060   
Orphanet
MedgenGAP43
Genetic Testing Registry GAP43
NextProtP17677 [Medical]
TSGene2596
GENETestsGAP43
Target ValidationGAP43
Huge Navigator GAP43 [HugePedia]
snp3D : Map Gene to Disease2596
BioCentury BCIQGAP43
ClinGenGAP43
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2596
Chemical/Pharm GKB GenePA28553
Clinical trialGAP43
Miscellaneous
canSAR (ICR)GAP43 (select the gene name)
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGAP43
EVEXGAP43
GoPubMedGAP43
iHOPGAP43
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:34:51 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.