Atlas of Genetics and Cytogenetics in Oncology and Haematology

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TTN (titin)

Identity

Alias (NCBI)CMD1G
CMH9
CMPD4
EOMFC
HMERF
LGMD2J
LGMDR10
MYLK5
SALMY
TMD
HGNC (Hugo) TTN
HGNC Alias symbCMPD4
FLJ32040
TMD
CMH9
LGMD2J
MYLK5
HGNC Previous nameCMD1G
HGNC Previous namecardiomyopathy, dilated 1G (autosomal dominant)
LocusID (NCBI) 7273
Atlas_Id 42726
Location 2q31.2  [Link to chromosome band 2q31]
Location_base_pair Starts at 178525991 and ends at 178807423 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)
BGN (Xq28) / TTN (2q31.2)KIF5C (2q23.1) / TTN (2q31.2)TTN (2q31.2) / MRPL34 (19p13.11)
TTN (2q31.2) / TTN (2q31.2)TTN (2q31.2) / UQCRC1 (3p21.31)BGN Xq28 / TTN 2q31.2
KIF5C 2q23.1 / TTN 2q31.2

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(2;2)(q23;q31) KIF5C/TTN
t(X;2)(q28;q31) BGN/TTN

External links

Nomenclature
HGNC (Hugo)TTN   12403
LRG (Locus Reference Genomic)LRG_391
Cards
Entrez_Gene (NCBI)TTN  7273  titin
AliasesCMD1G; CMH9; CMPD4; EOMFC; 
HMERF; LGMD2J; LGMDR10; MYLK5; SALMY; TMD
GeneCards (Weizmann)TTN
Ensembl hg19 (Hinxton)ENSG00000155657 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000155657 [Gene_View]  ENSG00000155657 [Sequence]  chr2:178525991-178807423 [Contig_View]  TTN [Vega]
ICGC DataPortalENSG00000155657
TCGA cBioPortalTTN
AceView (NCBI)TTN
Genatlas (Paris)TTN
WikiGenes7273
SOURCE (Princeton)TTN
Genetics Home Reference (NIH)TTN
Genomic and cartography
GoldenPath hg38 (UCSC)TTN  -     chr2:178525991-178807423 -  2q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TTN  -     2q31.2   [Description]    (hg19-Feb_2009)
GoldenPathTTN - 2q31.2 [CytoView hg19]  TTN - 2q31.2 [CytoView hg38]
ImmunoBaseENSG00000155657
genome Data Viewer NCBITTN [Mapview hg19]  
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)
Consensus coding sequences : CCDS (NCBI)TTN
Alternative Splicing GalleryENSG00000155657
Gene ExpressionTTN [ NCBI-GEO ]   TTN [ EBI - ARRAY_EXPRESS ]   TTN [ SEEK ]   TTN [ MEM ]
Gene Expression Viewer (FireBrowse)TTN [ Firebrowse - Broad ]
GenevisibleExpression of TTN in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7273
GTEX Portal (Tissue expression)TTN
Human Protein AtlasENSG00000155657-TTN [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZ42   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZ42  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZ42
Splice isoforms : SwissVarQ8WZ42
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 ]   [ MEROPS ]
PhosPhoSitePlusQ8WZ42
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    IG_LIKE (PS50835)    PROTEIN_KINASE_DOM (PS50011)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    Ig-like_dom    Ig-like_dom_sf    Ig-like_fold    Ig_I-set    Ig_sub    Ig_sub2    Ig_V-set    Kinase-like_dom_sf    MyBP-C_THB    PPAK_motif    Prot_kinase_dom    Titin_Z_rpt    Tyr_kinase_AS   
Domain families : Pfam (Sanger)fn3 (PF00041)    I-set (PF07679)    Pkinase (PF00069)    PPAK (PF02818)    THB (PF18362)    Titin_Z (PF09042)   
Domain families : Pfam (NCBI)pfam00041    pfam07679    pfam00069    pfam02818    pfam18362    pfam09042   
Domain families : Smart (EMBL)FN3 (SM00060)  IG (SM00409)  IGc2 (SM00408)  IGv (SM00406)  
Conserved Domain (NCBI)TTN
DMDM Disease mutations7273
Blocks (Seattle)TTN
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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
PDB Europe1BPV    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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
Structural Biology KnowledgeBase1BPV    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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
SCOP (Structural Classification of Proteins)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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
CATH (Classification of proteins structures)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    4C4K    4JNW    4O00    4QEG    4UOW    5BS0    5JDD    5JDE    5JDJ    5JOE    6DL4    6H4L    6HCI    6I0Y    6SDB   
SuperfamilyQ8WZ42
Human Protein Atlas [tissue]ENSG00000155657-TTN [tissue]
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
STRING (EMBL)TTN
ZODIACTTN
Ontologies - Pathways
QuickGOQ8WZ42
Ontology : AmiGOcondensed nuclear chromosome  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  cytosol  muscle contraction  muscle contraction  striated muscle contraction  mitotic chromosome condensation  structural constituent of muscle  structural constituent of muscle  positive regulation of gene expression  positive regulation of gene expression  protein kinase A signaling  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  telethonin binding  telethonin binding  I band  detection of muscle stretch  detection of muscle stretch  identical protein binding  actinin binding  actinin binding  protein self-association  sarcomere organization  regulation of protein kinase activity  cardiac muscle fiber development  sarcomerogenesis  positive regulation of protein secretion  positive regulation of protein secretion  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 exosome  structural molecule activity conferring elasticity  
Ontology : EGO-EBIcondensed nuclear chromosome  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  cytosol  muscle contraction  muscle contraction  striated muscle contraction  mitotic chromosome condensation  structural constituent of muscle  structural constituent of muscle  positive regulation of gene expression  positive regulation of gene expression  protein kinase A signaling  peptidyl-tyrosine phosphorylation  enzyme binding  protein kinase binding  Z disc  muscle filament sliding  skeletal muscle thin filament assembly  skeletal muscle myosin thick filament assembly  telethonin binding  telethonin binding  I band  detection of muscle stretch  detection of muscle stretch  identical protein binding  actinin binding  actinin binding  protein self-association  sarcomere organization  regulation of protein kinase activity  cardiac muscle fiber development  sarcomerogenesis  positive regulation of protein secretion  positive regulation of protein secretion  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 exosome  structural molecule activity conferring elasticity  
Pathways : KEGGHypertrophic cardiomyopathy (HCM)    Dilated cardiomyopathy   
NDEx NetworkTTN
Atlas of Cancer Signalling NetworkTTN
Wikipedia pathwaysTTN
Orthology - Evolution
OrthoDB7273
GeneTree (enSembl)ENSG00000155657
Phylogenetic Trees/Animal Genes : TreeFamTTN
HOGENOMQ8WZ42
Homologs : HomoloGeneTTN
Homology/Alignments : Family Browser (UCSC)TTN
Gene fusions - Rearrangements
Fusion : MitelmanBGN/TTN [Xq28/2q31.2]  
Fusion : MitelmanKIF5C/TTN [2q23.1/2q31.2]  
Fusion PortalBGN Xq28 TTN 2q31.2 HNSC
Fusion PortalKIF5C 2q23.1 TTN 2q31.2 PRAD
Fusion : QuiverTTN
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TTN
dbVarTTN
ClinVarTTN
MonarchTTN
1000_GenomesTTN 
Exome Variant ServerTTN
GNOMAD BrowserENSG00000155657
Varsome BrowserTTN
Genetic variants : HAPMAP7273
Genomic Variants (DGV)TTN [DGVbeta]
DECIPHERTTN [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTTN 
Mutations
ICGC Data PortalTTN 
TCGA Data PortalTTN 
Broad Tumor PortalTTN
OASIS PortalTTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTTN  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTTN
Mutations and Diseases : HGMDTTN
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
BioMutasearch TTN
DgiDB (Drug Gene Interaction Database)TTN
DoCM (Curated mutations)TTN (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TTN (select a term)
intoGenTTN
Cancer3DTTN(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188840    600334    603689    604145    608807    611705    613765   
Orphanet17833    635    18027    16999    21792    20888    20887    20886    20718    8730   
DisGeNETTTN
MedgenTTN
Genetic Testing Registry TTN
NextProtQ8WZ42 [Medical]
TSGene7273
GENETestsTTN
Target ValidationTTN
Huge Navigator TTN [HugePedia]
snp3D : Map Gene to Disease7273
BioCentury BCIQTTN
ClinGenTTN
Clinical trials, drugs, therapy
Protein Interactions : CTD7273
Pharm GKB GenePA37067
Clinical trialTTN
Miscellaneous
canSAR (ICR)TTN (select the gene name)
HarmonizomeTTN
DataMed IndexTTN
Probes
Litterature
PubMed324 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTTN
EVEXTTN
GoPubMedTTN
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 14 14:37:36 CEST 2020
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