MIEF2 (mitochondrial elongation factor 2)

2016-10-01  

Identity

HGNC
MIEF2
LOCATION
17p11.2
LOCUSID
125170
ALIAS
COXPD49,MID49,SMCR7

Other Information

Locus ID:

NCBI: 125170
MIM: 615498
HGNC: 17920
Ensembl: ENSG00000177427

Variants:

dbSNP: 125170
ClinVar: 125170
TCGA: ENSG00000177427
COSMIC: MIEF2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177427ENST00000323019Q96C03
ENSG00000177427ENST00000395703A8MT25
ENSG00000177427ENST00000395704Q96C03
ENSG00000177427ENST00000395706Q96C03
ENSG00000177427ENST00000578174J3KTJ4
ENSG00000177427ENST00000578621J3QR30
ENSG00000177427ENST00000579341K7EKV6

Expression (GTEx)

0
5
10
15
20
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

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10066duloxetineChemicalClinicalAnnotationassociatedPD29407288
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD29407288

References

Pubmed IDYearTitleCitations
232839812013Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission.288
215089612011MiD49 and MiD51, new components of the mitochondrial fission machinery.199
215089612011MiD49 and MiD51, new components of the mitochondrial fission machinery.199
239213782013Adaptor proteins MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission.88
269035402016Drp1-dependent mitochondrial fission via MiD49/51 is essential for apoptotic cristae remodeling.57
265647962016Mitochondrial E3 ubiquitin ligase MARCH5 controls mitochondrial fission and cell sensitivity to stress-induced apoptosis through regulation of MiD49 protein.35
298994472018Structural basis of mitochondrial receptor binding and constriction by DRP1.32
294316432018Epigenetic Dysregulation of the Dynamin-Related Protein 1 Binding Partners MiD49 and MiD51 Increases Mitotic Mitochondrial Fission and Promotes Pulmonary Arterial Hypertension: Mechanistic and Therapeutic Implications.22
276603092016The role of Drp1 adaptor proteins MiD49 and MiD51 in mitochondrial fission: implications for human disease.20
238804622013The mitochondrial elongation factors MIEF1 and MIEF2 exert partially distinct functions in mitochondrial dynamics.19

Citation

Dessen P

MIEF2 (mitochondrial elongation factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56427/mief2