TIMM22 (translocase of inner mitochondrial membrane 22)

2014-11-01  

Identity

HGNC
TIMM22
LOCATION
17p13.3
LOCUSID
29928
ALIAS
COXPD43,TEX4,TIM22

Other Information

Locus ID:

NCBI: 29928
MIM: 607251
HGNC: 17317
Ensembl: ENSG00000177370

Variants:

dbSNP: 29928
ClinVar: 29928
TCGA: ENSG00000177370
COSMIC: TIMM22

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177370ENST00000327158Q9Y584

Expression (GTEx)

0
5
10
15
20
25
30
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

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Mitochondrial protein importREACTOMER-HSA-1268020

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
287127242017Acylglycerol Kinase Mutated in Sengers Syndrome Is a Subunit of the TIM22 Protein Translocase in Mitochondria.16
287127262017Sengers Syndrome-Associated Mitochondrial Acylglycerol Kinase Is a Subunit of the Human TIM22 Protein Import Complex.15
147265122004Organization and function of the small Tim complexes acting along the import pathway of metabolite carriers into mammalian mitochondria.9
311037742019A MICOS-TIM22 Association Promotes Carrier Import into Human Mitochondria.7

Citation

Dessen P

TIMM22 (translocase of inner mitochondrial membrane 22)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74705/timm22