FITM2 (fat storage inducing transmembrane protein 2)

2014-11-01  

Identity

HGNC
LOCATION
20q13.12
LOCUSID
ALIAS
C20orf142,Fit2,SIDDIS,dJ881L22.2
FUSION GENES

Other Information

Locus ID:

NCBI: 128486
MIM: 612029
HGNC: 16135
Ensembl: ENSG00000197296

Variants:

dbSNP: 128486
ClinVar: 128486
TCGA: ENSG00000197296
COSMIC: FITM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197296ENST00000396825Q8N6M3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Lipid digestion, mobilization, and transportREACTOMER-HSA-73923

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
280676222017A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.4
300208282019Fat storage-inducing transmembrane protein 2 (FIT2) is less abundant in type 2 diabetes, and regulates triglyceride accumulation and insulin sensitivity in adipocytes.0

Citation

Dessen P

FITM2 (fat storage inducing transmembrane protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63389/fitm2