MTERF3 (mitochondrial transcription termination factor 3)

2014-11-01 Affiliation

Identity

HGNC

MTERF3

LOCATION

8q22.1

LOCUSID

51001

ALIAS

CGI-12,MTERFD1

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: 51001
MIM: 616930
HGNC: 24258
Ensembl: ENSG00000156469

Variants:

dbSNP: 51001
ClinVar: 51001
TCGA: ENSG00000156469
COSMIC: MTERF3

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000156469	ENST00000287025	Q96E29
ENSG00000156469	ENST00000517720	E5RI75
ENSG00000156469	ENST00000522822	Q96E29
ENSG00000156469	ENST00000523821	E5RIK9
ENSG00000156469	ENST00000524341	E5RIY4

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
Mitophagy	REACTOME	R-HSA-5205647
Pink/Parkin Mediated Mitophagy	REACTOME	R-HSA-5205685

References

Pubmed ID	Year	Title	Citations
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
20577816	2011	Overexpression of MTERFD1 or MTERFD3 impairs the completion of mitochondrial DNA replication.	16
31754344	2019	MTERFD1 promotes cell growth and irradiation resistance in colorectal cancer by upregulating interleukin-6 and interleukin-11.	0

Citation

Dessen P

MTERF3 (mitochondrial transcription termination factor 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70538/mterf3