TTN (Q14865286)

24 August 2023

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

inferred from an Open Targets association score over 0.7

autosomal recessive limb-girdle muscular dystrophy type 2J

2 references

13 August 2019

24 August 2023

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

inferred from an Open Targets association score over 0.7

cardiomyopathy

1 reference

24 August 2023

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

inferred from an Open Targets association score over 0.7

dilated cardiomyopathy

1 reference

24 August 2023

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

inferred from an Open Targets association score over 0.7

hypertrophic cardiomyopathy

1 reference

24 August 2023

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

inferred from an Open Targets association score over 0.7

hereditary proximal myopathy with early respiratory failure

2 references

24 August 2023

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

inferred from an Open Targets association score over 0.7

24 August 2023

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

inferred from an Open Targets association score over 0.7

early-onset myopathy with fatal cardiomyopathy

1 reference

24 August 2023

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

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 2

genomic assembly

1 reference

1 reference

178525989

1 reference

179390716

1 reference

178830802

1 reference

179695529

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

1 reference

2q31.2

1 reference

15 May 2022

platelet degranulation

1 reference

8 April 2019

cardiac muscle hypertrophy

TAS

1 reference

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

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

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

protein phosphorylation

1 reference

8 April 2019

3 references

8 April 2019

Role of titin in vertebrate striated muscle

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

8 April 2019

Titin: a molecular control freak

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

8 April 2019

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

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

striated muscle contraction

1 reference

8 April 2019

Titins: giant proteins in charge of muscle ultrastructure and elasticity

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

mitotic chromosome condensation

TAS

1 reference

8 April 2019

Human autoantibodies reveal titin as a chromosomal protein

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

positive regulation of gene expression

IEP

IGI

protein kinase A signaling

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

1 reference

8 April 2019

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

peptidyl-tyrosine phosphorylation

IEA

1 reference

8 April 2019

Gene Ontology Consortium

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

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

IEA

muscle filament sliding

1 reference

8 April 2019

skeletal muscle myosin thick filament assembly

TAS

Titin mutations as the molecular basis for dilated cardiomyopathy

sarcomere organization

3 references

8 April 2019

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

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

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

8 April 2019

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

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

regulation of protein kinase activity

1 reference

8 April 2019

Structural basis for activation of the titin kinase domain during myofibrillogenesis

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

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

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

positive regulation of protein secretion

IGI

regulation of catalytic activity

1 reference

8 April 2019

Structural basis for activation of the titin kinase domain during myofibrillogenesis

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

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

response to calcium ion

1 reference

8 April 2019

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

cardiac myofibril assembly

IDA

3 references

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

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

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

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

8 April 2019

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

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

cardiac muscle contraction

1 reference

8 April 2019

Titin mutations as the molecular basis for dilated cardiomyopathy

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

striated muscle myosin thick filament assembly

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

HomoloGene ID

130650

1 reference

15 May 2022

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

0 references

1 reference

130650

1 reference

130650

1 reference

130650

triceps brachii muscle

1

1 reference

20 April 2022

right ventricle

2

1 reference

20 April 2022

thoracic diaphragm

3

1 reference

20 April 2022

body of tongue

4

1 reference

20 April 2022

vastus lateralis muscle

5

1 reference

20 April 2022

deltoid muscle

6

1 reference

20 April 2022

tibialis anterior muscle

7

1 reference

20 April 2022

vena cava

8

1 reference

20 April 2022

gastrocnemius muscle

9

1 reference

20 April 2022

sural nerve

10

1 reference

20 April 2022

http://identifiers.org/ncbigene/7273

exact match

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

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

UMLS 2023