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GPSM2

Chr 1p13.3

G protein signaling modulator 2

Aliases:
LGN, Pins
MANE:
ENST00000264126.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Hydrocephalus

    BIALLELIC, autosomal or pseudoautosomal
  • Malformations of cortical development

    BIALLELIC, autosomal or pseudoautosomal
  • Monogenic hearing loss

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • Chudley-McCullough syndrome

    0.79
  • hearing loss, autosomal recessive

    0.58
  • Rare genetic deafness

    0.49
  • deafness

    0.49
  • hereditary disease

    0.41
  • neurodegenerative disease

    0.37
  • breast-ovarian cancer, familial, susceptibility to, 2

    0.34
  • gastric ulcer

    0.18
  • hemorrhage

    0.18
  • Hearing impairment

    0.12

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

G protein-signaling modulator 2

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 thereby regulates their activity (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.