TTN (titin)

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TTN (titin)

Identity

Alias_names	CMD1G
	cardiomyopathy
Alias_symbol (synonym)	CMPD4
	FLJ32040
	TMD
	CMH9
	LGMD2J
	MYLK5
Other alias	EOMFC
	HMERF
HGNC (Hugo)	TTN
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 2016)	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

External links

	Nomenclature
HGNC (Hugo)	TTN 12403
LRG (Locus Reference Genomic)	LRG_391
	Cards
Entrez_Gene (NCBI)	TTN 7273 titin
Aliases	CMD1G; CMH9; CMPD4; EOMFC;
	HMERF; LGMD2J; MYLK5; TMD
GeneCards (Weizmann)	TTN
Ensembl hg19 (Hinxton)	ENSG00000155657 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000155657 [Gene_View] chr2:178525991-178807423 [Contig_View] TTN [Vega]
ICGC DataPortal	ENSG00000155657
TCGA cBioPortal	TTN
AceView (NCBI)	TTN
Genatlas (Paris)	TTN
WikiGenes	7273
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)
Ensembl	TTN - 2q31.2 [CytoView hg19] TTN - 2q31.2 [CytoView hg38]
Mapping of homologs : NCBI	TTN [Mapview hg19] TTN [Mapview hg38]
OMIM	188840 600334 603689 604145 608807 611705 613765
	Gene and transcription
Genbank (Entrez)	###############################################################################################################################################################################################################################################################
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
Cluster EST : Unigene	Hs.134602 [ NCBI ]
CGAP (NCI)	Hs.134602
Alternative Splicing Gallery	ENSG00000155657
Gene Expression	TTN [ NCBI-GEO ] TTN [ EBI - ARRAY_EXPRESS ] TTN [ SEEK ] TTN [ MEM ]
Gene Expression Viewer (FireBrowse)	TTN [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	7273
GTEX Portal (Tissue expression)	TTN
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q8WZ42 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q8WZ42 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q8WZ42
Splice isoforms : SwissVar	Q8WZ42
Catalytic activity : Enzyme	2.7.11.1 [ Enzyme-Expasy ] 2.7.11.1 2.7.11.1 [ IntEnz-EBI ] 2.7.11.1 [ BRENDA ] 2.7.11.1 [ KEGG ]
PhosPhoSitePlus	Q8WZ42
Domaine pattern : Prosite (Expaxy)	FN3 (PS50853) IG_LIKE (PS50835) PROTEIN_KINASE_DOM (PS50011)
Domains : Interpro (EBI)	FN3_dom Ig-like_dom Ig-like_fold Ig_I-set Ig_sub Ig_sub2 Ig_V-set Kinase-like_dom PPAK_motif Prot_kinase_dom Titin_Z_rpt Tyr_kinase_AS
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) IGv (SM00406)
Conserved Domain (NCBI)	TTN
DMDM Disease mutations	7273
Blocks (Seattle)	TTN
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 4C4K 4JNW 4O00 4QEG 4UOW 5BS0 5JDD 5JDE 5JDJ 5JOE
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
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
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
Structural Biology KnowledgeBase	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
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
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
Superfamily	Q8WZ42
Human Protein Atlas	ENSG00000155657
Peptide Atlas	Q8WZ42
HPRD	01787
IPI	###############################################################################################################################################################################################################################################################
	Protein Interaction databases
DIP (DOE-UCLA)	Q8WZ42
IntAct (EBI)	Q8WZ42
FunCoup	ENSG00000155657
BioGRID	TTN
STRING (EMBL)	TTN
ZODIAC	TTN
	Ontologies - Pathways
QuickGO	Q8WZ42
Ontology : AmiGO	condensed 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 myosin complex 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 M band 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-EBI	condensed 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 myosin complex 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 M band 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 : KEGG	Hypertrophic cardiomyopathy (HCM) Dilated cardiomyopathy
NDEx Network	TTN
Atlas of Cancer Signalling Network	TTN
Wikipedia pathways	TTN

OrthoDB	7273
GeneTree (enSembl)	ENSG00000155657
Phylogenetic Trees/Animal Genes : TreeFam	TTN
HOVERGEN	Q8WZ42
HOGENOM	Q8WZ42
Homologs : HomoloGene	TTN
Homology/Alignments : Family Browser (UCSC)	TTN
	Gene fusions - Rearrangements
Fusion : Mitelman	BGN/TTN [Xq28/2q31.2] [t(X;2)(q28;q31)]
Fusion : Mitelman	KIF5C/TTN [2q23.1/2q31.2] [t(2;2)(q23;q31)]
Fusion: TCGA	BGN Xq28 TTN 2q31.2 HNSC
Fusion: TCGA	KIF5C 2q23.1 TTN 2q31.2 PRAD
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	TTN [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	TTN
dbVar	TTN
ClinVar	TTN
1000_Genomes	TTN
Exome Variant Server	TTN
ExAC (Exome Aggregation Consortium)	TTN (select the gene name)
Genetic variants : HAPMAP	7273
Genomic Variants (DGV)	TTN [DGVbeta]
DECIPHER	TTN [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	TTN
	Mutations
ICGC Data Portal	TTN
TCGA Data Portal	TTN
Broad Tumor Portal	TTN
OASIS Portal	TTN [ Somatic mutations - Copy number]
Mutations and Diseases : HGMD	TTN
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
BioMuta	search 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)
intoGen	TTN
Cancer3D	TTN(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	188840 600334 603689 604145 608807 611705 613765
Orphanet	17833 635 18027 16999 21792 20888 20887 20886 20718 8730
Medgen	TTN
Genetic Testing Registry	TTN
NextProt	Q8WZ42 [Medical]
TSGene	7273
GENETests	TTN
Target Validation	TTN
Huge Navigator	TTN [HugePedia]
snp3D : Map Gene to Disease	7273
BioCentury BCIQ	TTN
ClinGen	TTN
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	7273
Chemical/Pharm GKB Gene	PA37067
Clinical trial	TTN
	Miscellaneous
canSAR (ICR)	TTN (select the gene name)
	Probes
	Litterature
PubMed	246 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	TTN
EVEX	TTN
GoPubMed	TTN
iHOP	TTN

Genes in title	automatic search in PubMed
REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 25 19:36:44 CEST 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.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

TTN (titin)

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

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