TEFM (transcription elongation factor, mitochondrial)

Gene

• Entrez ID: 79736
• Gene name: Transcription elongation factor, mitochondrial
• Gene symbol: TEFM
• Synonyms (NCBI Gene): C17orf42, COXPD58
• Chromosome: 17
• Chromosome location: 17q11.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT050920	hsa-miR-17-5p	CLASH	23622248

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002082	Process	Regulation of oxidative phosphorylation	IMP	21278163
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003711	Function	Transcription elongation factor activity	IDA	21278163
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0005515	Function	Protein binding	IPI	21278163
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	21278163
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0006264	Process	Mitochondrial DNA replication	IMP	21278163
GO:0006392	Process	Transcription elongation by mitochondrial RNA polymerase	IEA
GO:0008821	Function	Crossover junction DNA endonuclease activity	IDA	21278163
GO:0042645	Component	Mitochondrial nucleoid	IBA
GO:0042645	Component	Mitochondrial nucleoid	IDA	21278163
GO:0042645	Component	Mitochondrial nucleoid	IEA
GO:1903109	Process	Positive regulation of mitochondrial transcription	IMP	21278163
GO:1990904	Component	Ribonucleoprotein complex	IDA	21278163

Other IDs

• MIM: 616422
• HGNC: 26223
• e!Ensembl: ENSG00000172171

Protein

• UniProt ID: Q96QE5
• Protein name: Transcription elongation factor, mitochondrial
• Protein function: Transcription elongation factor which increases mitochondrial RNA polymerase processivity (PubMed:21278163, PubMed:36823193). Regulates transcription of the mitochondrial genome, including genes important for the oxidative phosphorylation machin
• PDB: 5OL8, 5OL9, 5OLA, 8U8U, 8U8V, 9BDC, 9BDD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12836	HHH_3	76 → 132		Domain

• Sequence:

  MSGSVLFTAGERWRCFLTPSRSSLYWALHNFCCRKKSTTPKKITPNVTFCDENAKEPENA
  LDKLFSSEQQASILHVLNTASTKELEAFRLLRGRRSINIVEHRENFGPFQNLESLMNVPL
  FKYKSTVQVCNSILCPKTGREKRKSPENRFLRKLLKPDIERERLKAVNSIISIVFGTRRI
  AWAHLDRKLTVLDWQQSDRWSLMRGIYSSSVYLEEISSIISKMPKADFYVLEKTGLSIQN
  SSLFPILLHFHIMEAMLYALLNKTFAQDGQHQVLSMNRNAVGKHFELMIGDSRTSGKELV
  KQFLFDSILKADPRVFFPSDKIVHYRQMFLSTELQRVEELYDSLLQAIAFYELAVFDSQP
  

• Sequence length: 360

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
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 58	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations