Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1968 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
Eukaryotic translation initiation factor 2 subunit gamma |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
EIF2S3 |
SynonymsGene synonyms aliases
|
EIF2, EIF2G, EIF2gamma, MEHMO, MRXSBRK, eIF-2gA, eIF2gX |
ChromosomeChromosome number
|
X |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
Xp22.11 |
SummarySummary of gene provided in NCBI Entrez Gene.
|
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] |
SNPsSNP information provided by dbSNP.
|
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs751468976 |
C>A,T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs886040855 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs886040856 |
T>G |
Pathogenic |
Missense variant, coding sequence variant |
rs886040857 |
TCAA>- |
Likely-pathogenic, pathogenic |
Frameshift variant, coding sequence variant |
rs1602041478 |
A>G |
Likely-pathogenic |
Coding sequence variant, missense variant |
|
miRNAmiRNA information provided by mirtarbase database.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
|
UniProt ID |
P41091 |
Protein name |
Eukaryotic translation initiation factor 2 subunit 3 (EC 3.6.5.3) (Eukaryotic translation initiation factor 2 subunit gamma X) (eIF2-gamma X) (eIF2gX) |
Protein function |
Member of the eIF2 complex that functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA (PubMed:31836389). This complex binds to a 40S ribosomal subunit, followed by mRNA binding to form the 43S |
PDB |
6FEC
,
6K71
,
6K72
,
6O81
,
6O85
,
6YBV
,
6ZMW
,
6ZP4
,
7A09
,
7D43
,
7F66
,
7F67
,
7QP6
,
7QP7
,
8OZ0
,
8PHD
,
8PHV
,
8PJ1
,
8PJ2
,
8PJ3
,
8PJ4
,
8PPL
,
8QZZ
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00009 |
GTP_EFTU |
39 → 245 |
Elongation factor Tu GTP binding domain |
Domain |
PF03144 |
GTP_EFTU_D2 |
276 → 359 |
Elongation factor Tu domain 2 |
Domain |
PF09173 |
eIF2_C |
369 → 459 |
Initiation factor eIF2 gamma, C terminal |
Domain |
|
Sequence |
|
Sequence length |
472 |
Interactions |
View interactions |