(Q14865286)

English

TTN

protein-coding gene in the species Homo sapiens

CMD1G
CMH9
CMPD4
EOMFC
HMERF
LGMD2J
MYLK5
TMD
titin
SALMY
LGMDR10

In more languages

Statements

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

protein-coding gene

1 reference

NCBI homo sapiens annotation release 107

2 October 2016

1BPV.png
1,388 × 638; 284 KB

0 references

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

1 reference

6 July 2017

UniProt protein ID

1 reference

UniProt protein ID

21 March 2016

language of work or name

genetic association

hypertrophic cardiomyopathy 9

1 reference

UniProt protein ID

13 August 2019

dilated cardiomyopathy 1G

1 reference

UniProt protein ID

13 August 2019

tibial muscular dystrophy

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0010870

based on heuristic

inferred from an Open Targets association score over 0.7

autosomal recessive limb-girdle muscular dystrophy type 2J

2 references

UniProt protein ID

13 August 2019

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0012127

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/EFO_0000318

based on heuristic

inferred from an Open Targets association score over 0.7

dilated cardiomyopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/EFO_0000407

based on heuristic

inferred from an Open Targets association score over 0.7

hypertrophic cardiomyopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/EFO_0000538

based on heuristic

inferred from an Open Targets association score over 0.7

hereditary proximal myopathy with early respiratory failure

2 references

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0011362

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/Orphanet_178464

based on heuristic

inferred from an Open Targets association score over 0.7

early-onset myopathy with fatal cardiomyopathy

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0012714

based on heuristic

inferred from an Open Targets association score over 0.7

human chromosome 2

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

strand orientation

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

178525989

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

179390716

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

178830802

human chromosome 2

genomic assembly

genome assembly GRCh38

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

179695529

human chromosome 2

genomic assembly

Genome assembly GRCh37

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

cytogenetic location

2q31.2

1 reference

15 May 2022

biological process

platelet degranulation

determination method

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

cardiac muscle hypertrophy

determination method

1 reference

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

protein phosphorylation

determination method

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

muscle contraction

determination method

3 references

8 April 2019

Role of titin in vertebrate striated muscle

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

Titin: a molecular control freak

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

striated muscle contraction

determination method

1 reference

8 April 2019

Titins: giant proteins in charge of muscle ultrastructure and elasticity

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

mitotic chromosome condensation

determination method

1 reference

8 April 2019

Human autoantibodies reveal titin as a chromosomal protein

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

positive regulation of gene expression

determination method

protein kinase A signaling

determination method

1 reference

8 April 2019

Induction of insulin-like growth factor 1 splice forms by subfragments of myofibrillar proteins

Critical Assessment of Protein Function Annotation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

phosphorylation

determination method

1 reference

8 April 2019

UniProt protein ID

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

peptidyl-tyrosine phosphorylation

determination method

1 reference

8 April 2019

Gene Ontology Consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

muscle filament sliding

determination method

1 reference

8 April 2019

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

skeletal muscle myosin thick filament assembly

determination method

sarcomere organization

determination method

3 references

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

regulation of protein kinase activity

determination method

1 reference

8 April 2019

Structural basis for activation of the titin kinase domain during myofibrillogenesis

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

sarcomerogenesis

determination method

1 reference

8 April 2019

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

positive regulation of protein secretion

determination method

regulation of catalytic activity

determination method

1 reference

8 April 2019

Structural basis for activation of the titin kinase domain during myofibrillogenesis

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

response to calcium ion

determination method

1 reference

8 April 2019

A calmodulin-binding sequence in the C-terminus of human cardiac titin kinase

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

cardiac myofibril assembly

determination method

3 references

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

cardiac muscle contraction

determination method

1 reference

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

British Heart Foundation

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

striated muscle myosin thick filament assembly

determination method

1 reference

8 April 2019

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

http://www.ebi.ac.uk/QuickGO/annotations?geneProductId=UniProtKB:Q8WZ42

determination method

130650

1 reference

15 May 2022

Gene Atlas image

PBB GE TTN 208195 at fs.png
732 × 530; 8 KB

0 references

1 reference

HomoloGene build68

130650

1 reference

HomoloGene build68

130650

1 reference

HomoloGene build68

130650

triceps brachii muscle

1

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

right ventricle

2

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

thoracic diaphragm

3

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

4

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

vastus lateralis muscle

5

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

6

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

tibialis anterior muscle

7

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

8

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

gastrocnemius muscle

9

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

10

1 reference

20 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000155657

http://identifiers.org/ncbigene/7273

1 reference

Identifiers.org

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

10 April 2022

1 reference

15 May 2022

Ensembl gene ID

ENSG00000155657

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

Ensembl transcript ID

ENST00000342175

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000342992

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000359218

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000360870

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000412264

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000414766

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000425332

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000426232

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000436599

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000446966

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000448510

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000460472

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000470257

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000589042

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000591111

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

ENST00000634225

1 reference

ensembl Release 106

Ensembl gene ID

ENSG00000155657

HGNC gene symbol

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

15 June 2023

Sitelinks

Wikipedia(1 entry)

cywiki TTN

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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