G Protein Signaling Modulator 2

Alternative Names

  • GPSM2
  • Leu-Gly-Asn Repeat-Enriched Protein
  • LGN
  • Transducin-Binding Partner, Rod-Specific
  • Pins, Drosophila, Homolog of

Associated Diseases

Chudley-McCullough Syndrome
Back to search Result
OMIM Number

609245

NCBI Gene ID

29899

Uniprot ID

P81274

Length

59,196 bases

No. of Exons

19

No. of isoforms

1

Protein Name

G-protein-signaling modulator 2

Molecular Mass

76662 Da

Amino Acid Count

684

Genomic Location

chr1:108,875,350-108,934,545

Gene Map Locus
1p13.1

Description

GPSM2 belongs to a group of proteins that modulate the activation of G proteins that transduce extracellular signals received by cell surface receptors into integrated cellular responses. GPSM2 plays an essential role in maintaining cell polarity and spindle pole orientation. Dysfunction of GPSM2 is found to be associated with the phenotype of multiple micronuclei due to chromosomal mis-segregation and defect in cell division through mis-localization of mitotic spindle regulator protein NuMA.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_013296.4:c.1055C>AYemenChr1:108903227PathogenicChudley-McCullough SyndromeNG_028108.2:g.32878C>A ; NM_013296.4:c.1055C>A; NP_037428.3:p.Ser352*
NM_013296.4:c.379C>T PalestineChr1:108897592PathogenicPathogenicChudley-McCullough SyndromeNG_028108.2:g.27243C>T; NM_013296.4:c.379C>T ; NP_037428.3:p.Arg127Ter2676068541823
© CAGS 2024. All rights reserved.