Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TCAP (titin-cap)

Identity

Alias (NCBI)CMD1N
CMH25
LGMD2G
LGMDR7
T-cap
TELE
telethonin
HGNC (Hugo) TCAP
HGNC Alias symbT-cap
TELE
telethonin
CMD1N
HGNC Alias name19 kDa sarcomeric protein
 teneurin C-terminal associated peptide
HGNC Previous nameLGMD2G
HGNC Previous namelimb girdle muscular dystrophy 2G (autosomal recessive)
 titin-cap (telethonin)
LocusID (NCBI) 8557
Atlas_Id 42487
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 39665349 and ends at 39666554 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)
STARD3 (17q12) / TCAP (17q12)TCAP (17q12) / COMTD1 (10q22.2)

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
LRG (Locus Reference Genomic)LRG_210
Cards
Entrez_Gene (NCBI)TCAP    titin-cap
AliasesCMD1N; CMH25; LGMD2G; LGMDR7; 
T-cap; TELE; telethonin
GeneCards (Weizmann)TCAP
Ensembl hg19 (Hinxton)ENSG00000173991 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173991 [Gene_View]  ENSG00000173991 [Sequence]  chr17:39665349-39666554 [Contig_View]  TCAP [Vega]
ICGC DataPortalENSG00000173991
TCGA cBioPortalTCAP
AceView (NCBI)TCAP
Genatlas (Paris)TCAP
SOURCE (Princeton)TCAP
Genetics Home Reference (NIH)TCAP
Genomic and cartography
GoldenPath hg38 (UCSC)TCAP  -     chr17:39665349-39666554 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TCAP  -     17q12   [Description]    (hg19-Feb_2009)
GoldenPathTCAP - 17q12 [CytoView hg19]  TCAP - 17q12 [CytoView hg38]
ImmunoBaseENSG00000173991
genome Data Viewer NCBITCAP [Mapview hg19]  
OMIM601954   604488   607487   
Gene and transcription
Genbank (Entrez)AJ000491 AK096328 BC012628 BC013330 BF670957
RefSeq transcript (Entrez)NM_003673
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TCAP
Alternative Splicing GalleryENSG00000173991
Gene ExpressionTCAP [ NCBI-GEO ]   TCAP [ EBI - ARRAY_EXPRESS ]   TCAP [ SEEK ]   TCAP [ MEM ]
Gene Expression Viewer (FireBrowse)TCAP [ Firebrowse - Broad ]
GenevisibleExpression of TCAP in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8557
GTEX Portal (Tissue expression)TCAP
Human Protein AtlasENSG00000173991-TCAP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15273   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15273  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15273
Splice isoforms : SwissVarO15273
PhosPhoSitePlusO15273
Domains : Interpro (EBI)Telethonin    Titin-like_dom_sf   
Domain families : Pfam (Sanger)Telethonin (PF09470)   
Domain families : Pfam (NCBI)pfam09470   
Conserved Domain (NCBI)TCAP
Blocks (Seattle)TCAP
PDB (RSDB)1YA5    2F8V   
PDB Europe1YA5    2F8V   
PDB (PDBSum)1YA5    2F8V   
PDB (IMB)1YA5    2F8V   
Structural Biology KnowledgeBase1YA5    2F8V   
SCOP (Structural Classification of Proteins)1YA5    2F8V   
CATH (Classification of proteins structures)1YA5    2F8V   
SuperfamilyO15273
Human Protein Atlas [tissue]ENSG00000173991-TCAP [tissue]
Peptide AtlasO15273
HPRD05133
IPIIPI00005755   
Protein Interaction databases
DIP (DOE-UCLA)O15273
IntAct (EBI)O15273
BioGRIDTCAP
STRING (EMBL)TCAP
ZODIACTCAP
Ontologies - Pathways
QuickGOO15273
Ontology : AmiGOsomitogenesis  skeletal muscle contraction  skeletal muscle contraction  cardiac muscle hypertrophy  protein binding  cytosol  adult heart development  structural constituent of muscle  structural constituent of muscle  cardiac muscle hypertrophy in response to stress  Z disc  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  skeletal muscle myosin thick filament assembly  protein binding, bridging  protein binding, bridging  otic vesicle formation  titin binding  titin binding  I band  response to muscle stretch  detection of muscle stretch  detection of muscle stretch  BMP binding  ion channel binding  sarcomere organization  sarcomere organization  cardiac muscle fiber development  cardiac muscle fiber development  sarcomerogenesis  sarcomerogenesis  detection of mechanical stimulus  FATZ binding  cardiac myofibril assembly  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  protein-containing complex assembly  titin Z domain binding  titin Z domain binding  
Ontology : EGO-EBIsomitogenesis  skeletal muscle contraction  skeletal muscle contraction  cardiac muscle hypertrophy  protein binding  cytosol  adult heart development  structural constituent of muscle  structural constituent of muscle  cardiac muscle hypertrophy in response to stress  Z disc  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  skeletal muscle myosin thick filament assembly  protein binding, bridging  protein binding, bridging  otic vesicle formation  titin binding  titin binding  I band  response to muscle stretch  detection of muscle stretch  detection of muscle stretch  BMP binding  ion channel binding  sarcomere organization  sarcomere organization  cardiac muscle fiber development  cardiac muscle fiber development  sarcomerogenesis  sarcomerogenesis  detection of mechanical stimulus  FATZ binding  cardiac myofibril assembly  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle tissue morphogenesis  cardiac muscle contraction  cardiac muscle contraction  protein-containing complex assembly  titin Z domain binding  titin Z domain binding  
NDEx NetworkTCAP
Atlas of Cancer Signalling NetworkTCAP
Wikipedia pathwaysTCAP
Orthology - Evolution
OrthoDB8557
GeneTree (enSembl)ENSG00000173991
Phylogenetic Trees/Animal Genes : TreeFamTCAP
HOGENOMO15273
Homologs : HomoloGeneTCAP
Homology/Alignments : Family Browser (UCSC)TCAP
Gene fusions - Rearrangements
Fusion : QuiverTCAP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTCAP [hg38]
dbVarTCAP
ClinVarTCAP
MonarchTCAP
1000_GenomesTCAP 
Exome Variant ServerTCAP
GNOMAD BrowserENSG00000173991
Varsome BrowserTCAP
Genomic Variants (DGV)TCAP [DGVbeta]
DECIPHERTCAP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTCAP 
Mutations
ICGC Data PortalTCAP 
TCGA Data PortalTCAP 
Broad Tumor PortalTCAP
OASIS PortalTCAP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTCAP  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTCAP
Mutations and Diseases : HGMDTCAP
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
BioMutasearch TCAP
DgiDB (Drug Gene Interaction Database)TCAP
DoCM (Curated mutations)TCAP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TCAP (select a term)
intoGenTCAP
Cancer3DTCAP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601954    604488    607487   
Orphanet635    10336   
DisGeNETTCAP
MedgenTCAP
Genetic Testing Registry TCAP
NextProtO15273 [Medical]
GENETestsTCAP
Target ValidationTCAP
Huge Navigator TCAP [HugePedia]
ClinGenTCAP
Clinical trials, drugs, therapy
MyCancerGenomeTCAP
Protein Interactions : CTD
Pharm GKB GenePA36370
PharosO15273
Clinical trialTCAP
Miscellaneous
canSAR (ICR)TCAP (select the gene name)
HarmonizomeTCAP
DataMed IndexTCAP
Probes
Litterature
PubMed67 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTCAP
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 : Fri Jan 1 18:40:38 CET 2021
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