MTIF2 (mitochondrial translational initiation factor 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4528
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial translational initiation factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MTIF2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p16.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs1281877795 CTTTTTTCACT>- Likely-pathogenic Frameshift variant, coding sequence variant, 5 prime UTR variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(17)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603766 7441 ENSG00000085760
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Tissue specificity TISSUE SPECIFICITY: Expressed in all tissues examined. Highest level in skeletal muscle.
Sequence 
MNQKLLKLENLLRFHTIYRQLHSLCQRRALRQWRHGFSSAYPVWTAQLCAWPWPTDVLTG
AALSQYRLLVTKKEEGPWKSQLSSTKSKKVVEVWIGMTIEELARAMEKNTDYVYEALLNT
DIDIDSLEADSHLDEVWIKEVITKAGMKLKWSKLKQDKVRKNKDAVRRPQADPALLTPRS
PVVTIMGHVDHGKTTLLDKFRKTQVAAVETGGITQHIGAFLVSLPSGEKITFLDTPGHAA
FSAMRARGAQVTDIVVLVVAADDGVMKQTVESIQHAKDAQVPIILAVNKCDKAEADPEKV
KKELLAYDVVCEDYGGDVQAVPVSALTGDNLMALAEATVALAEMLELKADPNGPVEGTVI
ESFTDKGRGLVTTAIIQRGTLRKGSVLVAGKCWAKVRLMFDENGKTIDEAYPSMPVGITG
WRDLPSAGEEILEVESEPRAREVVDWRKYEQEQEKGQEDLKIIEEKRKEHKEAHQKAREK
YGHLLWKKRSILRFLERKEQIPLKPKEKRERDSNVLSVIIKGDVDGSVEAILNIIDTYDA
SHECELELVHFGVGDVSANDVNLAETFDGVIYGFNVNAGNVIQQSAAKKGVKIKLHKIIY
RLVEDLQEELSSRLPCAVEEHPVGEASILATFSVTEGKKKVPVAGCRVQKGQLEKQKKFK
LTRNGHVIWKGSLTSLKHHKDDISIVKTGMDCGLSLDEDNMEFQVGDRIVCYEEKQIQAK
TSWDPGF
Sequence length 727
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Multiple congenital anomalies Multiple congenital anomalies rs1057517732
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Lung Neoplasms Associate 31322542
Osteosarcoma Associate 32665038
Uterine Cervical Neoplasms Associate 34323415