GPSM2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GPSM2 (HGNC:29501) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
G protein signaling modulator 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB82
Alias symbols
LGN, Pins
%HI
21.15(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.86(Read more about gnomAD LOEUF score)
Cytoband
1p13.3
Genomic Coordinates
GRCh37/hg19: chr1:109419607-109477167 NCBI Ensembl UCSC
GRCh38/hg38: chr1:108876985-108934545 NCBI Ensembl UCSC
MANE Select Transcript
NM_013296.5 ENST00000264126.9 (Read more about MANE Select)
Function
Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:11781568, PubMed:15632202, PubMed:21816348). Required for cortical dynein-dynactin complex recruitment during metaphase (PubMed:22327364). Plays a role in metaphase spindle orientation (PubMed:22327364). Also plays an important role in asymmetric cell divisions (PubMed:21816348). Has guanine nucleotide dissociation inhibitor (GDI) activity towards G(i) alpha proteins, such as GNAI1 and GNAI3, and ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23536
ClinGen Curation ID:
CCID:007244
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variation in GPSM2 has been reported in individuals with Chudley-McCullough syndrome characterized by sensorineural deafness and partial agnesis of the corpus callosum and arachnoid cysts.Isolated hearing loss has also been reported. Furthermore, the overall evidence that GPSM2, when altered, causes Chudley-McCullough syndrome was assessed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE after primary curation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000001.10) (NC_000001.11)