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
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 (Hinxton)	ENSG00000155657 [Gene_View] chr2:179390717-179672150 [Contig_View] TTN [Vega]
AceView (NCBI)	TTN
Genatlas (Paris)	TTN
WikiGenes	7273
SOURCE (Princeton)	NM_001256850 NM_001267550 NM_003319 NM_133378 NM_133379 NM_133432 NM_133437
	Genomic and cartography
GoldenPath (UCSC)	TTN - 2q31.2 chr2:179390717-179672150 - 2q31.2 [Description] (hg19-Feb_2009)
Ensembl	TTN - 2q31.2 [CytoView]
Mapping of homologs : NCBI	TTN [Mapview]
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)	AC_000134 NC_000002 NC_018913 NG_011618 NT_005403 NW_001838863 NW_004929305
Consensus coding sequences : CCDS (NCBI)	TTN
Cluster EST : Unigene	Hs.134602 [ NCBI ]
CGAP (NCI)	Hs.134602
Alternative Splicing : Fast-db (Paris)	GSHG0018187
Alternative Splicing Gallery	ENSG00000155657
Gene Expression	TTN [ NCBI-GEO ] TTN [ SEEK ] TTN [ MEM ]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q8WZ42 (Uniprot)
NextProt	Q8WZ42 [Medical]
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 ]
Domaine pattern : Prosite (Expaxy)	FN3 (PS50853) IG_LIKE (PS50835) PROTEIN_KINASE_ATP (PS00107) PROTEIN_KINASE_DOM (PS50011) PROTEIN_KINASE_ST (PS00108) RCC1_1 (PS00625) RCC1_2 (PS00626) RCC1_3 (PS50012) TPR (PS50005) TPR_REGION (PS50293) WD_REPEATS_1 (PS00678) WD_REPEATS_2 (PS50082) WD_REPEATS_REGION (PS50294)
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 : CluSTr	Q8WZ42
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)	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 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
InParanoid	Q8WZ42
Interologous Interaction database	Q8WZ42
IntegromeDB	TTN
STRING (EMBL)	TTN
	Ontologies - Pathways
Ontology : AmiGO	condensed 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 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 structural molecule activity conferring elasticity
Ontology : EGO-EBI	condensed 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 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 structural molecule activity conferring elasticity
Pathways : KEGG	Regulation of actin cytoskeleton Calcium signaling pathway Focal adhesion
REACTOME	TTN
Protein Interaction Database	TTN
Wikipedia pathways	TTN
	Gene fusion - rearrangments
	Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)	TTN
SNP (GeneSNP Utah)	TTN
SNP : HGBase	TTN
Genetic variants : HAPMAP	TTN
1000_Genomes	TTN
ICGC program	ENSG00000155657
Somatic Mutations in Cancer : COSMIC	TTN
CONAN: Copy Number Analysis	TTN
Mutations and Diseases : HGMD	TTN
OMIM	188840 600334 603689 604145 608807 611705 613765
GENETests	TTN
Disease Genetic Association	TTN
Huge Navigator	TTN [HugePedia] TTN [HugeCancerGEM]
Genomic Variants	TTN TTN [DGVbeta]
Exome Variant	TTN
dbVar	TTN
ClinVar	TTN
snp3D : Map Gene to Disease	7273
	General knowledge
Homologs : HomoloGene	TTN
Homology/Alignments : Family Browser (UCSC)	TTN
Phylogenetic Trees/Animal Genes : TreeFam	TTN
Chemical/Protein Interactions : CTD	7273
Chemical/Pharm GKB Gene	PA37067
Clinical trial	TTN
Cancer Resource (Charite)	ENSG00000155657
	Other databases
	Probes
	Litterature
PubMed	188 Pubmed reference(s) in Entrez
CoreMine	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

Contributor(s)

Written	09-2002	Dessen P, Le Minor S

Updated	12-2013	Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 8 14:20:54 CET 2014

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