NDUFA4L2 (NDUFA4 mitochondrial complex associated like 2)

2017-04-01 Affiliation

Identity

HGNC

NDUFA4L2

LOCATION

12q13.3

LOCUSID

56901

ALIAS

COXFA4L2,MISTRH,NUOMS

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: 56901
HGNC: 29836
Ensembl: ENSG00000185633

Variants:

dbSNP: 56901
ClinVar: 56901
TCGA: ENSG00000185633
COSMIC: NDUFA4L2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000185633	ENST00000393825	Q9NRX3
ENSG00000185633	ENST00000393825	A0A024RB39
ENSG00000185633	ENST00000554503	Q9NRX3
ENSG00000185633	ENST00000554503	A0A024RB39
ENSG00000185633	ENST00000556732	G3V560

Expression (GTEx)

100

150

200

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
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex	KEGG	hsa_M00146
Non-alcoholic fatty liver disease (NAFLD)	KEGG	hsa04932
Non-alcoholic fatty liver disease (NAFLD)	KEGG	ko04932
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex	KEGG	M00146

References

Pubmed ID	Year	Title	Citations
35929074	2023	Unique expression of the atypical mitochondrial subunit NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response to hypoxia.	2
36369883	2023	Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in hepatocellular carcinoma.	6
36722045	2023	NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma.	4
35929074	2023	Unique expression of the atypical mitochondrial subunit NDUFA4L2 in cerebral pericytes fine tunes HIF activity in response to hypoxia.	2
36369883	2023	Transcriptional regulation of NDUFA4L2 by NFIB induces sorafenib resistance by decreasing reactive oxygen species in hepatocellular carcinoma.	6
36722045	2023	NDUFA4L2 reduces mitochondrial respiration resulting in defective lysosomal trafficking in clear cell renal cell carcinoma.	4
33340241	2021	NDUFA4L2 in smooth muscle promotes vascular remodeling in hypoxic pulmonary arterial hypertension.	11
33828084	2021	NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib.	13
33340241	2021	NDUFA4L2 in smooth muscle promotes vascular remodeling in hypoxic pulmonary arterial hypertension.	11
33828084	2021	NDUFA4L2 promotes glioblastoma progression, is associated with poor survival, and can be effectively targeted by apatinib.	13
33066813	2020	Evaluating the clinical significance of SHMT2 and its co-expressed gene in human kidney cancer.	8
33066813	2020	Evaluating the clinical significance of SHMT2 and its co-expressed gene in human kidney cancer.	8
30710412	2019	Mitochondrial NDUFA4L2 protein promotes the vitality of lung cancer cells by repressing oxidative stress.	19
30710412	2019	Mitochondrial NDUFA4L2 protein promotes the vitality of lung cancer cells by repressing oxidative stress.	19
29953852	2018	Induction of the mitochondrial NDUFA4L2 protein by HIF-1a regulates heart regeneration by promoting the survival of cardiac stem cell.	11

Citation

Dessen P

NDUFA4L2 (NDUFA4 mitochondrial complex associated like 2)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56790