• Gene id: 1968

Gene Summary

• Gene Symbol: EIF2S3   Gene   UCSC   Ensembl
• Aliases: EIF2, EIF2G, EIF2gamma, MEHMO, MRXSBRK, eIF-2gA
• Gene name: eukaryotic translation initiation factor 2 subunit gamma
• Alternate names: eukaryotic translation initiation factor 2 subunit 3, eIF-2-gamma X, eIF-2gX, eukaryotic translation initiation factor 2 subunit gamma X, eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa, eukaryotic translation initiation factor 2G,
• Gene location: Xp22.11 (16829397: 16880354)     Exons: 21     NC_000019.10
• Gene summary(Entrez): The protein encoded by this gene is the largest subunit of a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA(i) to the 40 S ribosomal subunit. [provided by RefSeq, Jan 2010]
• OMIM: 300161

Protein Summary

• Protein general information: P41091  
  • Name: Eukaryotic translation initiation factor 2 subunit 3 (EC 3.6.5.3) (Eukaryotic translation initiation factor 2 subunit gamma X) (eIF 2 gamma X) (eIF 2gX)
  • Length: 472  
  • Mass: 51109
  • Tissue specificity: Expressed in testis, brain, liver and muscle. {ECO
• Sequence:

  MAGGEAGVTLGQPHLSRQDLTTLDVTKLTPLSHEVISRQATINIGTIGHVAHGKSTVVKAISGVHTVRFKNELER
  NITIKLGYANAKIYKLDDPSCPRPECYRSCGSSTPDEFPTDIPGTKGNFKLVRHVSFVDCPGHDILMATMLNGAA
  VMDAALLLIAGNESCPQPQTSEHLAAIEIMKLKHILILQNKIDLVKESQAKEQYEQILAFVQGTVAEGAPIIPIS
  AQLKYNIEVVCEYIVKKIPVPPRDFTSEPRLIVIRSFDVNKPGCEVDDLKGGVAGGSILKGVLKVGQEIEVRPGI
  VSKDSEGKLMCKPIFSKIVSLFAEHNDLQYAAPGGLIGVGTKIDPTLCRADRMVGQVLGAVGALPEIFTELEISY
  FLLRRLLGVRTEGDKKAAKVQKLSKNEVLMVNIGSLSTGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKH
  WRLIGWGQIRRGVTIKPTVDDD

• Structural information:
  • Protein Domains: (39..24-)
    (/note="tr-type-G)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01059"-)
  • Interpro: IPR004161  IPR027417  IPR000795  IPR015256  IPR009000   IPR009001  
  • Prosite: PS51722
  • CDD: cd15490
  • PDB: 6FEC 6K71 6K72 6O81 6O85
  • PDBsum: 6FEC 6K71 6K72 6O81 6O85
  • STRING: ENSP00000253039
• Other Databases: GeneCards:  EIF2S3  Malacards:  EIF2S3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0045903	positive regulation of translational fidelity	IBA	biological process
GO:0005850	eukaryotic translation initiation factor 2 complex	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0001731	formation of translation preinitiation complex	IBA	biological process
GO:0005829	cytosol	IBA	cellular component
GO:0003743	translation initiation factor activity	IBA	molecular function
GO:0005850	eukaryotic translation initiation factor 2 complex	IDA	cellular component
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0003743	translation initiation factor activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0006412	translation	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006413	translational initiation	IEA	biological process
GO:0003924	GTPase activity	TAS	molecular function
GO:0008135	translation factor activity, RNA binding	TAS	molecular function
GO:0006413	translational initiation	TAS	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0003743	translation initiation factor activity	IDA	molecular function
GO:0005634	nucleus	IDA	NOT|cellular component
GO:0006413	translational initiation	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0008135	translation factor activity, RNA binding	IDA	molecular function
GO:0003743	translation initiation factor activity	IDA	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03013	RNA transport

Diseases

Associated diseases	References
MEHMO syndrome	KEGG:H02195
MEHMO syndrome	KEGG:H02195
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)