TNNI2

Protein identityUniProt · HPA

UniProt accession

P48788

Gene

TNNI2

Ensembl

ENSG00000130598

Chromosome

11

Canonical length

182 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Plasma membrane,Intermediate filaments

OverviewNCBI Gene

This gene encodes a fast-twitch skeletal muscle protein, a member of the troponin I gene family, and a component of the troponin complex including troponin T, troponin C and troponin I subunits. The troponin complex, along with tropomyosin, is responsible for the calcium-dependent regulation of striated muscle contraction. Mouse studies show that this component is also present in vascular smooth muscle and may play a role in regulation of smooth muscle function. In addition to muscle tissues, this protein is found in corneal epithelium, cartilage where it is an inhibitor of angiogenesis to inhibit tumor growth and metastasis, and mammary gland where it functions as a co-activator of estrogen receptor-related receptor alpha. This protein also suppresses tumor growth in human ovarian carcinoma. Mutations in this gene cause myopathy and distal arthrogryposis type 2B. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009]

Canonical amino-acid sequenceUniProt

182 residues, UniProt reviewed canonical sequence.

>P48788|TNNI2
     1  MGDEEKRNRA ITARRQHLKS VMLQIAATEL EKEESRREAE KQNYLAEHCP PLHIPGSMSE
    61  VQELCKQLHA KIDAAEEEKY DMEVRVQKTS KELEDMNQKL FDLRGKFKRP PLRRVRMSAD
   121  AMLKALLGSK HKVCMDLRAN LKQVKKEDTE KERDLRDVGD WRKNIEEKSG MEGRKKMFES
   181  ES

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TNNI2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

7,469 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TNNI2.

Disease | AllUniProt

Conditions TNNI2 is implicated in, by any mechanism.

• Arthrogryposis, distal, 2B1 (DA2B1) MIM:601680

Disease | GeneticClinVar

13 pathogenic / likely-pathogenic of 115 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Distal arthrogryposis type 2B1
• Ulnar deviation of the wrist
• Calcaneovalgus deformity
• Distal arthrogryposis
• Congenital finger flexion contractures

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.77

gnomAD pLI

0.14

gnomAD missense Z

0.62

DepMap mean gene effect

0.15

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cardiac muscle contraction
• positive regulation of DNA-templated transcription
• skeletal muscle contraction

Molecular functions

• actin binding
• troponin T binding

Cellular components

• cytosol
• nucleus
• troponin complex

Protein domainsUniProt · Pfam · InterPro

• Troponin
• Troponin domain superfamily
• Troponin I
• Troponin

KeywordsUniProt

• Acetylation
• Actin-binding
• Muscle protein
• Phosphoprotein

InteractionsUniProt · HPA

Protein binding partners of TNNI2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• ESRRA
• TNNC1