MTERF4 (mitochondrial transcription termination factor 4)

Gene

• Entrez ID: 130916
• Gene name: Mitochondrial transcription termination factor 4
• Gene symbol: MTERF4
• Synonyms (NCBI Gene): MTERFD2
• Chromosome: 2
• Chromosome location: 2q37.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT445184	hsa-miR-1253	PAR-CLIP	22100165
MIRT445183	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT445182	hsa-miR-580-3p	PAR-CLIP	22100165
MIRT755273	hsa-miR-1253	PAR-CLIP	22100165
MIRT755274	hsa-miR-6770-5p	PAR-CLIP	22100165
MIRT755275	hsa-miR-580-3p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	21531335, 22949673, 23022348, 32296183
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IDA
GO:0006364	Process	RRNA processing	IEA
GO:0006390	Process	Mitochondrial transcription	IEA
GO:0006626	Process	Protein targeting to mitochondrion	IEA
GO:0007507	Process	Heart development	IEA
GO:0019843	Function	RRNA binding	IDA	21531335
GO:0042255	Process	Ribosome assembly	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0061668	Process	Mitochondrial ribosome assembly	IBA
GO:1903108	Process	Regulation of mitochondrial transcription	IBA

Other IDs

• MIM: 615393
• HGNC: 28785
• e!Ensembl: ENSG00000122085

Protein

• UniProt ID: Q7Z6M4
• Protein name: Transcription termination factor 4, mitochondrial (Mitochondrial transcription termination factor 4) (mTERF domain-containing protein 2) [Cleaved into: mTERF domain-containing protein 2 processed]
• Protein function: Regulator of mitochondrial ribosome biogenesis and translation. Binds to mitochondrial ribosomal RNAs 16S, 12S and 7S and targets NSUN4 RNA methyltransferase to the mitochondrial large ribosomal subunit (39S).
• PDB: 4FP9, 4FZV, 7O9K, 7O9M, 7ODR, 7ODS, 7ODT, 7OF0, 7OF3, 7OF5, 7OF7, 7OIC, 7PD3, 8PK0, 8QSJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02536	mTERF	55 → 302	mTERF	Family

• Sequence:

  MAAFGRQVLDWHRLIPLTWACMARQTPHLGEQRRTTASLLRKLTTASNGGVIEELSCVRS
  NNYVQEPECRRNLVQCLLEKQGTPVVQGSLELERVMSSLLDMGFSNAHINELLSVRRGAS
  LQQLLDIISEFILLGLNPEPVCVVLKKSPQLLKLPIMQMRKRSSYLQKLGLGEGKLKRVL
  YCCPEIFTMRQQDINDTVRLLKEKCLFTVQQVTKILHSCPSVLREDLGQLEYKFQYAYFR
  MGIKHPDIVKSEYLQYSLTKIKQRHIYLERLGRYQTPDKKGQTQIPNPLLKDILRVSEAE
  FLARTACTSVEEFQVFKKLLAREEEESESSTSDDKRASLDEDEDDDDEEDNDEDDNDEDD
  DDEDDDEAEDNDEDEDDDEEE

• Sequence length: 381

Pathways

Reactome:

rRNA modification in the mitochondrion

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARPAL TUNNEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	25944848		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	25944848		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	25944848		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	GWASCAT_DG	25944848		★☆☆☆☆ Found in Text Mining only