GNGT2 - G protein subunit gamma transducin 2 Gene

Also Known as GNG9; HG3I; GNGT8; G-GAMMA-8; G-GAMMA-C

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 2793

About GNGT2

Cytogenetic location: 17q21.32 Genomic coordinates (GRCh38): 17:49,206,234-49,210,574 (from NCBI)

This gene has 6 transcripts (splice variants), 170 orthologues and 11 paralogues. Broad expression in spleen (RPKM 5.8), lymph node (RPKM 4.5) and 21 other tissues.

Summary

Phototransduction in rod and cone photoreceptors is regulated by groups of signaling proteins. The encoded protein is thought to play a crucial role in cone phototransduction. It belongs to the G protein gamma family and localized specifically in cones. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2010]

GNGT2 Products (4)

mRNA Protein Name
NM_001198754.2 NP_001185683.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_001198755.1 NP_001185684.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_001198756.1 NP_001185685.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
NM_031498.2 NP_113686.1 guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2
Molecular Function GO Annotation Evidence References Source
enables GTPase activity IDA
IDA: Inferred from direct assay
10570481 GOA
Cellular Component GO Annotation Evidence References Source
part of heterotrimeric G-protein complex IDA
IDA: Inferred from direct assay
10570481 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

GNGT2 Protein Structure

G-gamma

G-gamma: GGL domain (7 - 68)

  • 0
  • 69 a.a.
Protein Preferred Names Protein Names

guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-T2

  • G protein cone gamma 8 subunit

Related Diseases

Diseases Alias
Adenosquamous Lung Carcinoma
Night Blindness, Congenital Stationary, Autosomal Dominant 2
  • Congenital Stationary Night Blindness Autosomal Dominant 2

  • CSNBAD2

  • Hemeralopia

  • Night Blindness, Congenital Stationary, Rambusch Type

  • Rambusch Type Congenital Stationary Night Blindness

  • Congenital Stationary Night Blindness Rambusch Type

  • Hemeralopia Congenital Essential

  • Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2

Cone-Rod Dystrophy 2
  • Cone-Rod Dystrophy

  • CORD2

  • Cone-Rod Retinal Dystrophy

  • Rcrd2

  • Cone-Rod Retinal Dystrophy 2

  • Crd2

  • Cord

  • Crd

  • Retinal Cone-Rod Dystrophy

  • Cone-Rod Retinal Dystrophy-2

  • Retinal Cone-Rod Dystrophy 2

  • Tapetoretinal Degeneration

  • Cone-Rod Degeneration

  • Cone Rod Dystrophy

  • Dystrophy, Cone-Rod

  • Dystrophy, Cone-Rod, Type 2

  • Retinitis Pigmentosa

  • Retinitis Pigmentosa 2

  • Progressive Cone-Rod Dystrophy

Retinitis Pigmentosa
  • RP

  • Rod-Cone Dystrophy

  • Autosomal Recessive Retinitis Pigmentosa

  • Non-Syndromic Retinitis Pigmentosa

  • Pericentral Pigmentary Retinopathy

  • Pigmentary Retinopathy

  • Tapetoretinal Degeneration

  • Rcd

  • Retinitis Pigmentosa Autosomal Recessive

  • ARRP

  • Retinitis Pigmentosa, Autosomal Recessive

  • Retinitis Pigmentosa 1

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
Bos taurus GNGT2 VGNC VGNC:29471
Rattus norvegicus GNGT2 RGD RGD:1591007
Mus musculus GNGT2 MGD MGI:893584
Felis catus GNGT2 VGNC VGNC:99069
Canis familiaris GNGT2 VGNC VGNC:41325
Others GNGT2 NCBI