CHAC2 - ChaC glutathione specific gamma-glutamylcyclotransferase 2 Gene

Also Known as GCG1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 494143

About CHAC2

Cytogenetic location: 2p16.2 Genomic coordinates (GRCh38): 2:53,767,783-53,775,196 (from NCBI)

This gene has 1 transcript (splice variant), 213 orthologues and 1 paralogue. Ubiquitous expression in duodenum (RPKM 3.6), testis (RPKM 3.6) and 25 other tissues.

Summary

The protein encoded by this gene is a gamma-glutamyl cyclotransferase that catalyzes the conversion of glutathione to 5-oxoproline and cysteinylglycine. It is thought that this gene is upregulated in response to endoplasmic reticulum stress and that the glutathione depletion enhances Apoptosis. [provided by RefSeq, Sep 2016]

CHAC2 Products (2)

mRNA Protein Name
NM_001008708.4 NP_001008708.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 1
NM_001346127.1 NP_001333056.1 glutathione-specific gamma-glutamylcyclotransferase 2 isoform 2
Molecular Function GO Annotation Evidence Références Source
enables glutathione specific gamma-glutamylcyclotransferase activity IDA
IDA: Inferred from direct assay
27913623 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CHAC2 Protein Structure

ChaC

ChaC: ChaC-like protein (1 - 173)

  • 0
  • 100
  • 184 a.a.
Protein Preferred Names Protein Names

glutathione-specific gamma-glutamylcyclotransferase 2

  • ChaC cation transport regulator homolog 2

Related Diseases

Diseases Alias
Pontocerebellar Hypoplasia, Type 2d
  • Pontocerebellar Hypoplasia Type 2d

  • Pcca

  • PCH2D

  • Progressive Cerebello-Cerebral Atrophy

  • Cerebellocerebral Atrophy, Progressive

  • Pontocerebellar Hypoplasia 2d

  • Progressive Cerebellocerebral Atrophy

  • Hypoplasia, Pontocerebellar, Type 2d

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
Felis catus CHAC2 VGNC VGNC:60833
Mus musculus CHAC2 MGD MGI:1915294
Rattus norvegicus CHAC2 RGD RGD:1309120
Macaca mulatta CHAC2 VGNC VGNC:71151
Bos taurus CHAC2 VGNC VGNC:27263
Canis familiaris CHAC2 VGNC VGNC:39186
Others CHAC2 NCBI