TNNI2 (troponin I2, fast skeletal type)

2007-07-01 Affiliation

Identity

HGNC

TNNI2

LOCATION

11p15.5

LOCUSID

7136

ALIAS

AMCD2B,DA2B,DA2B1,FSSV,fsTnI

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 7136
MIM: 191043
HGNC: 11946
Ensembl: ENSG00000130598

Variants:

dbSNP: 7136
ClinVar: 7136
TCGA: ENSG00000130598
COSMIC: TNNI2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000130598	ENST00000252898	P48788
ENSG00000130598	ENST00000381905	P48788
ENSG00000130598	ENST00000381906	P48788
ENSG00000130598	ENST00000381911	P48788
ENSG00000130598	ENST00000617947	A0A087WXS0

Expression (GTEx)

500

1000

1500

2000

2500

3000

3500

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Muscle contraction	REACTOME	R-HSA-397014
Striated Muscle Contraction	REACTOME	R-HSA-390522

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36631501	2023	Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.	1
36631501	2023	Distal arthrogryposis in a girl arising from a novel TNNI2 variant inherited from paternal somatic mosaicism.	1
36069346	2022	A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.	2
36069346	2022	A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family.	2
33683712	2021	Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.	9
33683712	2021	Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy.	9
29663169	2018	Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer.	18
29663169	2018	Troponin I2 as a Specific Biomarker for Prediction of Peritoneal Metastasis in Gastric Cancer.	18
28436080	2017	Genotype-specific pathogenic effects in human dilated cardiomyopathy.	21
28436080	2017	Genotype-specific pathogenic effects in human dilated cardiomyopathy.	21
26374086	2016	A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.	6
26374086	2016	A novel missense mutation of TNNI2 in a Chinese family cause distal arthrogryposis type 1.	6
23850728	2013	A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.	2
23850728	2013	A novel TNNI2 mutation causes Freeman-Sheldon syndrome in a Chinese family with an affected adult with only facial contractures.	2
22519952	2012	Distal arthrogryposis: clinical and genetic findings.	19

Citation

Dessen P

TNNI2 (troponin I2, fast skeletal type)

Atlas Genet Cytogenet Oncol Haematol. 2007-07-01

Online version: http://atlasgeneticsoncology.org/gene/47647