MTIF2 (mitochondrial translational initiation factor 2)

Gene

• Entrez ID: 4528
• Gene name: Mitochondrial translational initiation factor 2
• Gene symbol: MTIF2
• Synonyms: -
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1281877795	CTTTTTTCACT>-	Likely-pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT041908	hsa-miR-484	CLASH	23622248
MIRT444893	hsa-miR-548m	PAR-CLIP	22100165
MIRT444892	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT444891	hsa-miR-6500-3p	PAR-CLIP	22100165
MIRT444890	hsa-miR-3145-3p	PAR-CLIP	22100165
MIRT444893	hsa-miR-548m	PAR-CLIP	22100165
MIRT444892	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT444891	hsa-miR-6500-3p	PAR-CLIP	22100165
MIRT444890	hsa-miR-3145-3p	PAR-CLIP	22100165
MIRT444893	hsa-miR-548m	PAR-CLIP	22100165
MIRT444892	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT444891	hsa-miR-6500-3p	PAR-CLIP	22100165
MIRT444890	hsa-miR-3145-3p	PAR-CLIP	22100165
MIRT444893	hsa-miR-548m	PAR-CLIP	22100165
MIRT444892	hsa-miR-1255b-2-3p	PAR-CLIP	22100165
MIRT444891	hsa-miR-6500-3p	PAR-CLIP	22100165
MIRT444890	hsa-miR-3145-3p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003743	Function	Translation initiation factor activity	IEA
GO:0003924	Function	GTPase activity	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	TAS	12095986
GO:0006446	Process	Regulation of translational initiation	TAS	7829522
GO:0008135	Function	Translation factor activity, RNA binding	ISS
GO:0032790	Process	Ribosome disassembly	ISS
GO:0043024	Function	Ribosomal small subunit binding	ISS
GO:0070124	Process	Mitochondrial translational initiation	ISS

Other IDs

• MIM: 603766
• HGNC: 7441
• e!Ensembl: ENSG00000085760

Protein

• UniProt ID: P46199
• Protein name: Translation initiation factor IF-2, mitochondrial (IF-2(Mt)) (IF-2Mt) (IF2(mt))
• Protein function: One of the essential components for the initiation of protein synthesis. Protects formylmethionyl-tRNA from spontaneous hydrolysis and promotes its binding to the 30S ribosomal subunits. Also involved in the hydrolysis of GTP during the formatio
• PDB: 6GAW, 6GAZ, 6GB2, 6RW5, 7PO2, 8QRN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00009	GTP_EFTU	179 → 344	Elongation factor Tu GTP binding domain	Domain
  PF11987	IF-2	503 → 607	Translation-initiation factor 2	Domain

• Sequence:

  MNQKLLKLENLLRFHTIYRQLHSLCQRRALRQWRHGFSSAYPVWTAQLCAWPWPTDVLTG
  AALSQYRLLVTKKEEGPWKSQLSSTKSKKVVEVWIGMTIEELARAMEKNTDYVYEALLNT
  DIDIDSLEADSHLDEVWIKEVITKAGMKLKWSKLKQDKVRKNKDAVRRPQADPALLTPRS
  PVVTIMGHVDHGKTTLLDKFRKTQVAAVETGGITQHIGAFLVSLPSGEKITFLDTPGHAA
  FSAMRARGAQVTDIVVLVVAADDGVMKQTVESIQHAKDAQVPIILAVNKCDKAEADPEKV
  KKELLAYDVVCEDYGGDVQAVPVSALTGDNLMALAEATVALAEMLELKADPNGPVEGTVI
  ESFTDKGRGLVTTAIIQRGTLRKGSVLVAGKCWAKVRLMFDENGKTIDEAYPSMPVGITG
  WRDLPSAGEEILEVESEPRAREVVDWRKYEQEQEKGQEDLKIIEEKRKEHKEAHQKAREK
  YGHLLWKKRSILRFLERKEQIPLKPKEKRERDSNVLSVIIKGDVDGSVEAILNIIDTYDA
  SHECELELVHFGVGDVSANDVNLAETFDGVIYGFNVNAGNVIQQSAAKKGVKIKLHKIIY
  RLVEDLQEELSSRLPCAVEEHPVGEASILATFSVTEGKKKVPVAGCRVQKGQLEKQKKFK
  LTRNGHVIWKGSLTSLKHHKDDISIVKTGMDCGLSLDEDNMEFQVGDRIVCYEEKQIQAK
  TSWDPGF

• Sequence length: 727

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732

Unknown
Disease name	Disease term	dbSNP ID	References
Dysmorphic features	Dysmorphic features