GPSM2: G Protein Signaling Modulator 2
A key regulator of asymmetric cell division and G protein signaling
Gene Information Card
| Symbol | GPSM2 |
|---|---|
| Full Name | G protein signaling modulator 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 29899 ncbi.nlm.nih.gov/gene/29899 |
| Ensembl ID | ENSG00000121957 |
| UniProt ID | P81274 |
| OMIM ID | 609245 |
| HGNC ID | 29501 |
| Aliases | LGN, Pins, CMCS, DFNB82 |
Description
GPSM2 (G protein signaling modulator 2) encodes a protein that regulates G protein signaling by modulating the activity of Gα subunits. It is essential for asymmetric cell division, spindle orientation, and planar cell polarity. Mutations in GPSM2 cause autosomal recessive nonsyndromic hearing loss (DFNB82) and are implicated in Chudley-McCullough syndrome. The protein is also involved in cancer cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Nonsyndromic hearing loss (DFNB82) | Loss-of-function mutations disrupt hair cell planar polarity and cochlear development | ClinVar, OMIM |
| Chudley-McCullough syndrome | Biallelic mutations lead to sensorineural deafness and brain anomalies | OMIM, PubMed |
| Breast cancer | Overexpression promotes cell migration and invasion via Gβγ signaling | COSMIC, PubMed |
| Glioblastoma | Altered expression affects asymmetric division of neural stem cells | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Cochlea | 8.3 | Medium |
| Lung | 6.1 | Low |
| Breast | 4.8 | Low |
| Testis | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.2 | High expression |
| HeLa | 7.5 | Moderate expression |
| MCF7 | 5.1 | Low expression |
| U87MG | 9.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2101C>T (p.Arg701*) | Nonsense | Rare | Loss of function; associated with DFNB82 |
| c.1105G>A (p.Gly369Ser) | Missense | Rare | Impaired Gα binding; hearing loss |
| c.1336C>T (p.Arg446Cys) | Missense | Rare | Reduced protein stability; Chudley-McCullough syndrome |
| c.1685_1686del (p.Leu562fs) | Frameshift | Rare | Premature truncation; hearing loss |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and missense mutations that reduce or abolish protein function are associated with hearing loss and Chudley-McCullough syndrome.
Gain of Function (GOF)
Not well documented; overexpression in cancer may confer gain-of-function effects.
Dominant Negative (DN)
Not reported for GPSM2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• G protein signaling (Gαi/o)
• Asymmetric cell division
• Planar cell polarity (PCP) pathway
Protein Summary
GPSM2 (LGN) is a 677-amino acid protein containing N-terminal TPR repeats and C-terminal GoLoco motifs. It binds Gαi/o subunits and NuMA, localizing to the cell cortex to orient the mitotic spindle during asymmetric cell division. The protein is critical for neurogenesis, hair cell polarity, and cancer cell migration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPSM2 Knockout HEK293 Cell Line | EDJ-KQ9072 | Human | 29899 | Details Get a Quote |
| GPSM2 Knockout A-549 Cell Line | EDJ-KQ35549 | Human | 29899 | Details Get a Quote |
| GPSM2 Knockout HCT 116 Cell Line | EDJ-KQ35550 | Human | 29899 | Details Get a Quote |
| GPSM2 Knockout HeLa Cell Line | EDJ-KQ35551 | Human | 29899 | Details Get a Quote |
