1. Gene
  2. GSPT2 - G1 to S phase transition 2 Gene

GSPT2 - G1 to S phase transition 2 Gene

Homo sapiens

Also known as GST2; ERF3B

Gene ID: 23708 | Gene type: protein coding

About GSPT2

Cytogenetic location: Xp11.22 Genomic coordinates (GRCh38): X:51,743,442-51,746,232 (from NCBI)

This gene has 1 transcript (splice variant), 80 orthologues, 18 paralogues and is associated with 1 phenotype.

Summary

This gene encodes a GTPase that belongs to the GTP-binding elongation factor family. The encoded protein is a polypeptide release factor that complexes with eukaryotic peptide chain release factor 1 to mediate translation termination. This protein may also be involved in mRNA stability.[provided by RefSeq, Mar 2010]

GSPT2 Products(1)

mRNA Protein Name
NM_018094.5 NP_060564.2 eukaryotic peptide chain release factor GTP-binding subunit ERF3B

GSPT2 Protein Structure

PAM2

PAM2: Ataxin-2 C-terminal region (47 - 64)

GTP_EFTU

GTP_EFTU: Elongation factor Tu GTP binding domain (201 - 400)

GTP_EFTU_D2

GTP_EFTU_D2: Elongation factor Tu domain 2 (443 - 510)

GTP_EFTU_D3

GTP_EFTU_D3: Elongation factor Tu C-terminal domain (520 - 623)

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  • 628 a.a.
Protein Preferred Names Protein Names

eukaryotic peptide chain release factor GTP-binding subunit ERF3B

eukaryotic peptide chain release factor subunit 3b

Related Diseases

Diseases Alias
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Treacher Collins Syndrome 3

TCS3

Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive

Mandibulofacial Dysostosis Treacher Collins Type Autosomal Recessive

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11

HLD11

4h Leukodystrophy 3

Leukodystrophy, Hypomyelinating, Type 11

Chromosome Xp11.22 Duplication Syndrome

Mrx17

Mental Retardation, X-Linked 31

Mrx31

Xp11.22 Microduplication Syndrome

X-Linked Mental Retardation 31

Mental Retardation, X-Linked 17

Brugada Syndrome 5

BRGDA5

Cardiac Conduction Defect, Nonspecific

Brugada Syndrome, Type 5

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Mus musculus GSPT2 MGD MGI:1316727
Rattus norvegicus GSPT2 RGD RGD:1563213
Bos taurus GSPT2 VGNC VGNC:106763