TTN (titin)

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TTN (titin)

Identity

Other names	CMD1G
	CMH9
	CMPD4
	EOMFC
	HMERF
	LGMD2J
	MYLK5
	TMD
HGNC (Hugo)	TTN
LocusID (NCBI)	7273
Atlas_Id	42726
Location	2q31.2 [Link to chromosome band 2q31]
Location_base_pair	Starts at 179390717 and ends at 179672150 bp from pter ( according to hg19-Feb_2009)

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
	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] chr2:179390717-179672150 [Contig_View] TTN [Vega]
Ensembl hg38 (Hinxton)	ENSG00000155657 [Gene_View] chr2:179390717-179672150 [Contig_View] TTN [Vega]
ICGC DataPortal	ENSG00000155657
TCGA cBioPortal	TTN
AceView (NCBI)	TTN
Genatlas (Paris)	TTN
WikiGenes	7273
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)
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)	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)	NC_000002 NC_018913 NG_011618 NT_005403 NW_004929305
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 (Uniprot)
NextProt	Q8WZ42 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q8WZ42
Splice isoforms : SwissVar	Q8WZ42 (Swissvar)
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 Kinase-like_dom PPAK_motif Prot_kinase_dom Ser/Thr_dual-sp_kinase 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) S_TKc (SM00220)
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
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
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
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
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
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
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
Superfamily	Q8WZ42
Human Protein Atlas	ENSG00000155657
Peptide Atlas	Q8WZ42
HPRD	01787
IPI	IPI00759754 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
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 striated muscle thin filament muscle contraction muscle contraction striated muscle contraction mitotic chromosome condensation structural constituent of muscle structural constituent of muscle 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 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 striated muscle thin filament muscle contraction muscle contraction striated muscle contraction mitotic chromosome condensation structural constituent of muscle structural constituent of muscle 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 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
	Orthology - Evolution
OrthoDB	7273
GeneTree (enSembl)	ENSG00000155657
Phylogenetic Trees/Animal Genes : TreeFam	TTN
Homologs : HomoloGene	TTN
Homology/Alignments : Family Browser (UCSC)	TTN
	Gene fusions - Rearrangements
Fusion: TCGA	BGN Xq28 TTN 2q31.2 HNSC
Fusion: TCGA	KIF5C 2q23.1 TTN 2q31.2 PRAD
	Polymorphisms : SNP, 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]
	Mutations
ICGC Data Portal	TTN
TCGA Data Portal	TTN
Broad Tumor Portal	TTN
OASIS Portal	TTN [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	2:179390717-179672150 ENSG00000155657
CONAN: Copy Number Analysis	TTN
Mutations and Diseases : HGMD	TTN
OMIM	188840 600334 603689 604145 608807 611705 613765
Medgen	TTN
Genetic Testing Registry	TTN
NextProt	Q8WZ42 [Medical]
TSGene	7273
GENETests	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	234 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 19 19:18:17 CEST 2016

Home Genes Leukemias Solid Tumours 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