MRM2 (mitochondrial rRNA methyltransferase 2)

2016-04-01  

Identity

HGNC
MRM2
LOCATION
7p22.3
LOCUSID
29960
ALIAS
FJH1,FTSJ2,HEL97,MTDPS17,RRMJ2

Other Information

Locus ID:

NCBI: 29960
MIM: 606906
HGNC: 16352
Ensembl: ENSG00000122687

Variants:

dbSNP: 29960
ClinVar: 29960
TCGA: ENSG00000122687
COSMIC: MRM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122687ENST00000242257Q9UI43
ENSG00000122687ENST00000242257V9HWJ9
ENSG00000122687ENST00000440306Q9UI43
ENSG00000122687ENST00000440306V9HWJ9
ENSG00000122687ENST00000486040A0A3B3ITW8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
Gene ExpressionREACTOMER-HSA-74160
rRNA processingREACTOMER-HSA-72312
rRNA processing in the mitochondrionREACTOMER-HSA-8868766
rRNA modification in the mitochondrionREACTOMER-HSA-6793080

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
250092822014MRM2 and MRM3 are involved in biogenesis of the large subunit of the mitochondrial ribosome.35
250749362014Assignment of 2'-O-methyltransferases to modification sites on the mammalian mitochondrial large subunit 16 S ribosomal RNA (rRNA).19
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
289731712017Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.14
118274512002Identification and characterization of FTSJ2, a novel human nucleolar protein homologous to bacterial ribosomal RNA methyltransferase.8
288661012017MiR-542-3p exerts tumor suppressive functions in non-small cell lung cancer cells by upregulating FTSJ2.5
245950622014FTSJ2, a heat shock-inducible mitochondrial protein, suppresses cell invasion and migration.4

Citation

Dessen P

MRM2 (mitochondrial rRNA methyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-04-01

Online version: http://atlasgeneticsoncology.org/gene/55708/mrm2