Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TCAP (titin-cap)

Identity

Other namesCMD1N
LGMD2G
T-cap
TELE
telethonin
HGNC (Hugo) TCAP
LocusID (NCBI) 8557
Atlas_Id 42487
Location 17q12
Location_base_pair Starts at 37821599 and ends at 37822807 bp from pter ( according to hg19-Feb_2009)

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)TCAP   11610
Cards
Entrez_Gene (NCBI)TCAP  8557  titin-cap
GeneCards (Weizmann)TCAP
Ensembl hg19 (Hinxton) [Gene_View]  chr17:37821599-37822807 [Contig_View]  TCAP [Vega]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:37821599-37822807 [Contig_View]  TCAP [Vega]
TCGA cBioPortalTCAP
AceView (NCBI)TCAP
Genatlas (Paris)TCAP
WikiGenes8557
SOURCE (Princeton)TCAP
Genomic and cartography
GoldenPath hg19 (UCSC)TCAP  -     chr17:37821599-37822807 +  17q12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TCAP  -     17q12   [Description]    (hg38-Dec_2013)
EnsemblTCAP - 17q12 [CytoView hg19]  TCAP - 17q12 [CytoView hg38]
Mapping of homologs : NCBITCAP [Mapview hg19]  TCAP [Mapview hg38]
OMIM601954   604488   607487   
Gene and transcription
Genbank (Entrez)AJ000491 AK096328 BC012628 BC013330 BF670957
RefSeq transcript (Entrez)NM_003673
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008892 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)TCAP
Cluster EST : UnigeneHs.77628 [ NCBI ]
CGAP (NCI)Hs.77628
Alternative Splicing : Fast-db (Paris)GSHG0012460
Gene ExpressionTCAP [ NCBI-GEO ]     TCAP [ SEEK ]   TCAP [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15273 (Uniprot)
NextProtO15273  [Medical]
With graphics : InterProO15273
Splice isoforms : SwissVarO15273 (Swissvar)
Domains : Interpro (EBI)Telethonin    Titin-like_domain   
Related proteins : CluSTrO15273
Domain families : Pfam (Sanger)Telethonin (PF09470)   
Domain families : Pfam (NCBI)pfam09470   
DMDM Disease mutations8557
Blocks (Seattle)O15273
PDB (SRS)1YA5    2F8V   
PDB (PDBSum)1YA5    2F8V   
PDB (IMB)1YA5    2F8V   
PDB (RSDB)1YA5    2F8V   
Peptide AtlasO15273
HPRD05133
IPIIPI00005755   
Protein Interaction databases
DIP (DOE-UCLA)O15273
IntAct (EBI)O15273
BioGRIDTCAP
IntegromeDBTCAP
STRING (EMBL)TCAP
Ontologies - Pathways
QuickGOO15273
Ontology : AmiGOsomitogenesis  skeletal muscle contraction  cardiac muscle hypertrophy  protein binding  cytosol  protein complex assembly  adult heart development  structural constituent of muscle  cardiac muscle hypertrophy in response to stress  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  protein binding, bridging  otic vesicle formation  titin binding  I band  response to muscle stretch  detection of muscle stretch  BMP binding  ion channel binding  sarcomere organization  sarcomere organization  cardiac muscle fiber development  sarcomerogenesis  detection of mechanical stimulus  FATZ binding  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle contraction  titin Z domain binding  
Ontology : EGO-EBIsomitogenesis  skeletal muscle contraction  cardiac muscle hypertrophy  protein binding  cytosol  protein complex assembly  adult heart development  structural constituent of muscle  cardiac muscle hypertrophy in response to stress  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  protein binding, bridging  otic vesicle formation  titin binding  I band  response to muscle stretch  detection of muscle stretch  BMP binding  ion channel binding  sarcomere organization  sarcomere organization  cardiac muscle fiber development  sarcomerogenesis  detection of mechanical stimulus  FATZ binding  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle contraction  titin Z domain binding  
Protein Interaction DatabaseTCAP
DoCM (Curated mutations)TCAP
Wikipedia pathwaysTCAP
Gene fusion - Rearrangements
Gene fusion: TCGA
Polymorphisms : SNP, variants
NCBI Variation ViewerTCAP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TCAP
dbVarTCAP
ClinVarTCAP
1000_GenomesTCAP 
Exome Variant ServerTCAP
SNP (GeneSNP Utah)TCAP
SNP : HGBaseTCAP
Genetic variants : HAPMAPTCAP
Genomic Variants (DGV)TCAP [DGVbeta]
Mutations
ICGC Data PortalTCAP 
TCGA Data PortalTCAP 
Tumor PortalTCAP
Somatic Mutations in Cancer : COSMICTCAP 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Zhejiang University Center for Genetic and Genomic Medicine (ZJU-CGGM)
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)17:37821599-37822807
CONAN: Copy Number AnalysisTCAP 
Mutations and Diseases : HGMDTCAP
OMIM601954    604488    607487   
MedgenTCAP
NextProtO15273 [Medical]
GENETestsTCAP
Disease Genetic AssociationTCAP
Huge Navigator TCAP [HugePedia]  TCAP [HugeCancerGEM]
snp3D : Map Gene to Disease8557
DGIdb (Drug Gene Interaction db)TCAP
General knowledge
Homologs : HomoloGeneTCAP
Homology/Alignments : Family Browser (UCSC)TCAP
Phylogenetic Trees/Animal Genes : TreeFamTCAP
Chemical/Protein Interactions : CTD8557
Chemical/Pharm GKB GenePA36370
Clinical trialTCAP
Other databases
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
CoreMineTCAP
GoPubMedTCAP
iHOPTCAP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated02-2015Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Apr 13 15:19:09 CEST 2015

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