TFG_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
TFG
Protein names and data:
TFG_HUMAN
, Protein TFG
, TRK-fused gene protein
Lenght: 400 a.a.
Mass: 43448 Da
fasta formatted sequence
Disease:
( OMIM:
188550
602498
604484
)
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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue specificity:
Ubiquitous.
Genetic variants
43 - 43
V -> F (in dbSNP:rs15245). VAR_059731
15245
149 - 149
A -> S (in a colorectal cancer sample; somatic mutation). VAR_035668
211 - 211
A -> V (in dbSNP:rs430945). VAR_054322
430945
285 - 285
P -> L (in HMSNP; results in mislocalization and TARDBP-inclusion-body formation in cultured cells). VAR_068917
364 - 364
T -> P (in dbSNP:rs6772054). VAR_054323
6772054
Database cross-references
UniProt:
Q92734
Ensembl:
ENST00000240851
Ensembl:
ENST00000418917
Ensembl:
ENST00000476228
Ensembl:
ENST00000490574
MIM:
188550
MIM:
602498
MIM:
604484
neXtProt:
NX_Q92734
Antibodypedia:
Q92734
(may not find the protein thus also not any antibody)
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