InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TFG

Summary

InnateDB Protein

IDBP-475369.3

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

TFG

Protein Name

TRK-fused gene

Synonyms

HMSNP; SPG57; TF6; TRKT3;

Species

Homo sapiens

Ensembl Protein

ENSP00000419960

InnateDB Gene

IDBG-47460 (TFG)

Protein Structure

UniProt Annotation

Function

Plays a role in the normal dynamic function of the endoplasmic reticulum (ER) and its associated microtubules. {ECO:0000269PubMed:23479643}.

Subcellular Localization

Disease Associations

Thyroid papillary carcinoma (TPC) [MIM:188550]: A common tumor of the thyroid that typically arises as an irregular, solid or cystic mass from otherwise normal thyroid tissue. Papillary carcinomas are malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. Note=The gene represented in this entry may be involved in disease pathogenesis. A chromosomal aberration involving TFG is found in thyroid papillary carcinomas. Translocation t(1;3)(q21;q11) with NTRK1. The TFG sequence is fused to the 3'- end of NTRK1 generating the TRKT3 (TRK-T3) fusion transcript.Hereditary motor and sensory neuropathy, proximal type (HMSNP) [MIM:604484]: A neurodegenerative disorder characterized by young adult onset of proximal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis. {ECO:0000269PubMed:22883144}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spastic paraplegia 57, autosomal recessive (SPG57) [MIM:615658]: A complicated form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. Complicated forms are recognized by additional variable features including spastic quadriparesis, seizures, dementia, amyotrophy, extrapyramidal disturbance, cerebral or cerebellar atrophy, optic atrophy, and peripheral neuropathy, as well as by extra neurological manifestations. {ECO:0000269PubMed:23479643}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 47 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.