Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TTN (titin)

Identity

Other namesCMD1G
CMH9
CMPD4
EOMFC
HMERF
LGMD2J
MYLK5
TMD
HGNC (Hugo) TTN
LocusID (NCBI) 7273
Location 2q31.2
Location_base_pair Starts at 179390717 and ends at 179672150 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)TTN   12403
Cards
Entrez_Gene (NCBI)TTN  7273  titin
GeneCards (Weizmann)TTN
Ensembl hg19 (Hinxton)ENSG00000155657 [Gene_View]  chr2:179390717-179672150 [Contig_View]  TTN [Vega]
Ensembl hg38 (Hinxton)ENSG00000155657 [Gene_View]  chr2:179390717-179672150 [Contig_View]  TTN [Vega]
ICGC DataPortalENSG00000155657
cBioPortalTTN
AceView (NCBI)TTN
Genatlas (Paris)TTN
WikiGenes7273
SOURCE (Princeton)TTN
Genomic and cartography
GoldenPath hg19 (UCSC)TTN  -     chr2:179390717-179672150 -  2q31.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TTN  -     2q31.2   [Description]    (hg38-Dec_2013)
EnsemblTTN - 2q31.2 [CytoView hg19]  TTN - 2q31.2 [CytoView hg38]
Mapping of homologs : NCBITTN [Mapview hg19]  TTN [Mapview hg38]
OMIM188840   600334   603689   604145   608807   611705   613765   
Gene and transcription
Genbank (Entrez)AF321609 AF525413 AK056602 AK091732 AK092284
RefSeq transcript (Entrez)NM_001256850 NM_001267550 NM_003319 NM_133378 NM_133379 NM_133432 NM_133437
RefSeq genomic (Entrez)AC_000134 NC_000002 NC_018913 NG_011618 NT_005403 NW_001838863 NW_004929305
Consensus coding sequences : CCDS (NCBI)TTN
Cluster EST : UnigeneHs.134602 [ NCBI ]
CGAP (NCI)Hs.134602
Alternative Splicing : Fast-db (Paris)GSHG0018187
Alternative Splicing GalleryENSG00000155657
Gene ExpressionTTN [ NCBI-GEO ]     TTN [ SEEK ]   TTN [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZ42 (Uniprot)
NextProtQ8WZ42  [Medical]
With graphics : InterProQ8WZ42
Splice isoforms : SwissVarQ8WZ42 (Swissvar)
Catalytic activity : Enzyme2.7.11.1 [ Enzyme-Expasy ]   2.7.11.12.7.11.1 [ IntEnz-EBI ]   2.7.11.1 [ BRENDA ]   2.7.11.1 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)Fibronectin_type3    Ig-like_dom    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Kinase-like_dom    PPAK_motif    Prot_kinase_dom    Ser/Thr_dual-sp_kinase_dom    Titin_Z    Tyr_kinase_AS   
Related proteins : CluSTrQ8WZ42
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    Pkinase (PF00069)    PPAK (PF02818)    Titin_Z (PF09042)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam00069    pfam02818    pfam09042   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  S_TKc (SM00220)  
DMDM Disease mutations7273
Blocks (Seattle)Q8WZ42
PDB (SRS)1BPV    1G1C    1NCT    1NCU    1TIT    1TIU    1TKI    1TNM    1TNN    1WAA    1YA5    2A38    2BK8    2F8V    2ILL    2J8H    2J8O    2NZI    2RQ8    2WP3    2WWK    2WWM    2Y9R    3B43    3KNB    3LCY    3LPW    3PUC    3Q5O    3QP3   
PDB (PDBSum)1BPV    1G1C    1NCT    1NCU    1TIT    1TIU    1TKI    1TNM    1TNN    1WAA    1YA5    2A38    2BK8    2F8V    2ILL    2J8H    2J8O    2NZI    2RQ8    2WP3    2WWK    2WWM    2Y9R    3B43    3KNB    3LCY    3LPW    3PUC    3Q5O    3QP3   
PDB (IMB)1BPV    1G1C    1NCT    1NCU    1TIT    1TIU    1TKI    1TNM    1TNN    1WAA    1YA5    2A38    2BK8    2F8V    2ILL    2J8H    2J8O    2NZI    2RQ8    2WP3    2WWK    2WWM    2Y9R    3B43    3KNB    3LCY    3LPW    3PUC    3Q5O    3QP3   
PDB (RSDB)1BPV    1G1C    1NCT    1NCU    1TIT    1TIU    1TKI    1TNM    1TNN    1WAA    1YA5    2A38    2BK8    2F8V    2ILL    2J8H    2J8O    2NZI    2RQ8    2WP3    2WWK    2WWM    2Y9R    3B43    3KNB    3LCY    3LPW    3PUC    3Q5O    3QP3   
Human Protein AtlasENSG00000155657
Peptide AtlasQ8WZ42
HPRD01787
IPIIPI00759754   IPI00023283   IPI00759637   IPI00759613   IPI00179357   IPI00759542   IPI01010474   IPI00940872   IPI00383918   IPI00939967   IPI01010763   IPI01019109   IPI00747654   IPI00436021   IPI00375498   IPI00375499   IPI00941965   IPI00829745   IPI00916042   IPI00916743   IPI01018745   IPI00985334   
Protein Interaction databases
DIP (DOE-UCLA)Q8WZ42
IntAct (EBI)Q8WZ42
FunCoupENSG00000155657
BioGRIDTTN
IntegromeDBTTN
STRING (EMBL)TTN
Ontologies - Pathways
QuickGOQ8WZ42
Ontology : AmiGOcondensed nuclear chromosome  in utero embryonic development  protease binding  platelet degranulation  cardiac muscle hypertrophy  protein serine/threonine kinase activity  protein tyrosine kinase activity  calcium ion binding  protein binding  calmodulin binding  calmodulin binding  ATP binding  extracellular region  nucleus  nucleolus  cytoplasm  Golgi apparatus  cytosol  striated muscle thin filament  muscle contraction  muscle contraction  striated muscle contraction  mitotic chromosome condensation  adult heart development  blood coagulation  structural constituent of muscle  structural constituent of muscle  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  Z disc  muscle filament sliding  platelet activation  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  M band  M band  telethonin binding  telethonin binding  I band  detection of muscle stretch  identical protein binding  actinin binding  actinin binding  forward locomotion  protein self-association  sarcomere organization  regulation of protein kinase activity  cardiac muscle fiber development  sarcomerogenesis  regulation of catalytic activity  actin filament binding  muscle alpha-actinin binding  response to calcium ion  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle contraction  extracellular vesicular exosome  structural molecule activity conferring elasticity  
Ontology : EGO-EBIcondensed nuclear chromosome  in utero embryonic development  protease binding  platelet degranulation  cardiac muscle hypertrophy  protein serine/threonine kinase activity  protein tyrosine kinase activity  calcium ion binding  protein binding  calmodulin binding  calmodulin binding  ATP binding  extracellular region  nucleus  nucleolus  cytoplasm  Golgi apparatus  cytosol  striated muscle thin filament  muscle contraction  muscle contraction  striated muscle contraction  mitotic chromosome condensation  adult heart development  blood coagulation  structural constituent of muscle  structural constituent of muscle  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  Z disc  muscle filament sliding  platelet activation  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  M band  M band  telethonin binding  telethonin binding  I band  detection of muscle stretch  identical protein binding  actinin binding  actinin binding  forward locomotion  protein self-association  sarcomere organization  regulation of protein kinase activity  cardiac muscle fiber development  sarcomerogenesis  regulation of catalytic activity  actin filament binding  muscle alpha-actinin binding  response to calcium ion  cardiac myofibril assembly  cardiac muscle tissue morphogenesis  cardiac muscle contraction  extracellular vesicular exosome  structural molecule activity conferring elasticity  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
Protein Interaction DatabaseTTN
DoCM (Curated mutations)TTN
Wikipedia pathwaysTTN
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTN
dbVarTTN
ClinVarTTN
1000_GenomesTTN 
Exome Variant ServerTTN
SNP (GeneSNP Utah)TTN
SNP : HGBaseTTN
Genetic variants : HAPMAPTTN
Genomic VariantsTTN  TTN [DGVbeta]
Mutations
ICGC Data PortalENSG00000155657 
Somatic Mutations in Cancer : COSMICTTN 
CONAN: Copy Number AnalysisTTN 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
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)2:179390717-179672150
Mutations and Diseases : HGMDTTN
OMIM188840    600334    603689    604145    608807    611705    613765   
MedgenTTN
NextProtQ8WZ42 [Medical]
GENETestsTTN
Disease Genetic AssociationTTN
Huge Navigator TTN [HugePedia]  TTN [HugeCancerGEM]
snp3D : Map Gene to Disease7273
DGIdb (Drug Gene Interaction db)TTN
General knowledge
Homologs : HomoloGeneTTN
Homology/Alignments : Family Browser (UCSC)TTN
Phylogenetic Trees/Animal Genes : TreeFamTTN
Chemical/Protein Interactions : CTD7273
Chemical/Pharm GKB GenePA37067
Clinical trialTTN
Cancer Resource (Charite)ENSG00000155657
Other databases
Probes
Litterature
PubMed205 Pubmed reference(s) in Entrez
CoreMineTTN
GoPubMedTTN
iHOPTTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 02:08:15 CET 2014
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