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

KPTN (kaptin, actin binding protein)

Identity

Alias_nameskaptin (actin-binding protein)
Alias_symbol (synonym)2.00E+04
Other alias2E4
MRT41
HGNC (Hugo) KPTN
LocusID (NCBI) 11133
Atlas_Id 64997
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 47475141 and ends at 47484264 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
KPTN (19q13.32) / PSKH1 (16q22.1)

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)KPTN   6404
Cards
Entrez_Gene (NCBI)KPTN  11133  kaptin, actin binding protein
Aliases2E4; MRT41
GeneCards (Weizmann)KPTN
Ensembl hg19 (Hinxton)ENSG00000118162 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118162 [Gene_View]  chr19:47475141-47484264 [Contig_View]  KPTN [Vega]
ICGC DataPortalENSG00000118162
TCGA cBioPortalKPTN
AceView (NCBI)KPTN
Genatlas (Paris)KPTN
WikiGenes11133
SOURCE (Princeton)KPTN
Genetics Home Reference (NIH)KPTN
Genomic and cartography
GoldenPath hg38 (UCSC)KPTN  -     chr19:47475141-47484264 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)KPTN  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblKPTN - 19q13.32 [CytoView hg19]  KPTN - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIKPTN [Mapview hg19]  KPTN [Mapview hg38]
OMIM615620   615637   
Gene and transcription
Genbank (Entrez)AF105369 AK023996 AK225419 AK298672 BC009249
RefSeq transcript (Entrez)NM_001291296 NM_007059
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)KPTN
Cluster EST : UnigeneHs.25441 [ NCBI ]
CGAP (NCI)Hs.25441
Alternative Splicing GalleryENSG00000118162
Gene ExpressionKPTN [ NCBI-GEO ]   KPTN [ EBI - ARRAY_EXPRESS ]   KPTN [ SEEK ]   KPTN [ MEM ]
Gene Expression Viewer (FireBrowse)KPTN [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11133
GTEX Portal (Tissue expression)KPTN
Human Protein AtlasENSG00000118162-KPTN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y664   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y664  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y664
Splice isoforms : SwissVarQ9Y664
PhosPhoSitePlusQ9Y664
Domains : Interpro (EBI)Kptn   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)KPTN
DMDM Disease mutations11133
Blocks (Seattle)KPTN
SuperfamilyQ9Y664
Human Protein Atlas [tissue]ENSG00000118162-KPTN [tissue]
Peptide AtlasQ9Y664
HPRD17241
IPIIPI00186166   IPI01014906   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y664
IntAct (EBI)Q9Y664
FunCoupENSG00000118162
BioGRIDKPTN
STRING (EMBL)KPTN
ZODIACKPTN
Ontologies - Pathways
QuickGOQ9Y664
Ontology : AmiGOactin filament organization  lamellipodium  growth cone  filamentous actin  stereocilium  cellular response to amino acid starvation  cellular response to glucose starvation  perinuclear region of cytoplasm  actin filament binding  protein localization to lysosome  postsynaptic actin cytoskeleton  KICSTOR complex  negative regulation of TORC1 signaling  
Ontology : EGO-EBIactin filament organization  lamellipodium  growth cone  filamentous actin  stereocilium  cellular response to amino acid starvation  cellular response to glucose starvation  perinuclear region of cytoplasm  actin filament binding  protein localization to lysosome  postsynaptic actin cytoskeleton  KICSTOR complex  negative regulation of TORC1 signaling  
NDEx NetworkKPTN
Atlas of Cancer Signalling NetworkKPTN
Wikipedia pathwaysKPTN
Orthology - Evolution
OrthoDB11133
GeneTree (enSembl)ENSG00000118162
Phylogenetic Trees/Animal Genes : TreeFamKPTN
HOVERGENQ9Y664
HOGENOMQ9Y664
Homologs : HomoloGeneKPTN
Homology/Alignments : Family Browser (UCSC)KPTN
Gene fusions - Rearrangements
Fusion: Tumor Portal KPTN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKPTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KPTN
dbVarKPTN
ClinVarKPTN
1000_GenomesKPTN 
Exome Variant ServerKPTN
ExAC (Exome Aggregation Consortium)ENSG00000118162
GNOMAD BrowserENSG00000118162
Genetic variants : HAPMAP11133
Genomic Variants (DGV)KPTN [DGVbeta]
DECIPHERKPTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisKPTN 
Mutations
ICGC Data PortalKPTN 
TCGA Data PortalKPTN 
Broad Tumor PortalKPTN
OASIS PortalKPTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKPTN  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKPTN
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 KPTN
DgiDB (Drug Gene Interaction Database)KPTN
DoCM (Curated mutations)KPTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KPTN (select a term)
intoGenKPTN
Cancer3DKPTN(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615620    615637   
Orphanet22687   
MedgenKPTN
Genetic Testing Registry KPTN
NextProtQ9Y664 [Medical]
TSGene11133
GENETestsKPTN
Target ValidationKPTN
Huge Navigator KPTN [HugePedia]
snp3D : Map Gene to Disease11133
BioCentury BCIQKPTN
ClinGenKPTN
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11133
Chemical/Pharm GKB GenePA30194
Clinical trialKPTN
Miscellaneous
canSAR (ICR)KPTN (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKPTN
EVEXKPTN
GoPubMedKPTN
iHOPKPTN
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 : Thu Nov 9 11:52:46 CET 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.