Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	130916
Gene name Gene Name - the full gene name approved by the HGNC.	Mitochondrial transcription termination factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MTERF4
Synonyms (NCBI Gene) Gene synonyms aliases	MTERFD2
Chromosome Chromosome number	2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	2q37.3

Show/Hide all(6)

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

Show/Hide all(18)

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

MIM	HGNC	e!Ensembl
615393	28785	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

Interactions

View interactions

	Reactome
			rRNA modification in the mitochondrion

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carpal Tunnel Syndrome	Carpal tunnel syndrome	N/A	N/A	GWAS

MTERF4 (mitochondrial transcription termination factor 4)