TIMM50 (translocase of inner mitochondrial membrane 50)

2011-10-01 Affiliation

Identity

HGNC

TIMM50

LOCATION

19q13.2

LOCUSID

92609

ALIAS

MGCA9,TIM50,TIM50L

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: 92609
MIM: 607381
HGNC: 23656
Ensembl: ENSG00000105197

Variants:

dbSNP: 92609
ClinVar: 92609
TCGA: ENSG00000105197
COSMIC: TIMM50

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000105197	ENST00000544017	Q3ZCQ8
ENSG00000105197	ENST00000544017	A0A024R0M6
ENSG00000105197	ENST00000594583	M0R047
ENSG00000105197	ENST00000597666	M0R2Q2
ENSG00000105197	ENST00000597782	M0QXC3
ENSG00000105197	ENST00000599733	M0R2Z3
ENSG00000105197	ENST00000599794	M0R2F8
ENSG00000105197	ENST00000601252	M0R0C3
ENSG00000105197	ENST00000601358	M0R2D2
ENSG00000105197	ENST00000601403	M0R1Y4
ENSG00000105197	ENST00000602028	M0R003
ENSG00000105197	ENST00000602265	M0R303
ENSG00000105197	ENST00000607714	Q3ZCQ8

Expression (GTEx)

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
Metabolism of proteins	REACTOME	R-HSA-392499
Mitochondrial protein import	REACTOME	R-HSA-1268020

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
35019165	2022	Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.	3
35019165	2022	Novel variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability in Iranian consanguineous families.	3
32369862	2020	Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.	4
32810522	2020	MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.	14
32369862	2020	Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.	4
32810522	2020	MiR-7 mediates mitochondrial impairment to trigger apoptosis and necroptosis in Rhabdomyosarcoma.	14
30348838	2019	Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis.	6
30604908	2019	TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients.	15
31058414	2019	Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.	9
30348838	2019	Inner Mitochondrial Translocase Tim50 Is Central in Adrenal and Testicular Steroid Synthesis.	6
30604908	2019	TIMM50 promotes tumor progression via ERK signaling and predicts poor prognosis of non-small cell lung cancer patients.	15
31058414	2019	Mutations in TIMM50 cause severe mitochondrial dysfunction by targeting key aspects of mitochondrial physiology.	9
30190335	2018	Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.	19
30190335	2018	Mutations in TIMM50 compromise cell survival in OxPhos-dependent metabolic conditions.	19
27573165	2017	Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.	17

Citation

Dessen P

TIMM50 (translocase of inner mitochondrial membrane 50)

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52410