RGS22: Regulator of G Protein Signaling 22

A member of the RGS protein family involved in signal transduction and potential roles in cancer and development.

Gene Information Card

Symbol RGS22
Full Name Regulator of G Protein Signaling 22
Gene Type Protein coding
Chromosomal Location 8q22.2
NCBI Gene ID 26166 ncbi.nlm.nih.gov/gene/26166
Ensembl ID ENSG00000182389
UniProt ID Q8NFW5
OMIM ID 610429
HGNC ID 30386
Aliases DKFZp686A01247, FLJ14431, RGS22L

Description

RGS22 (Regulator of G Protein Signaling 22) is a protein-coding gene that belongs to the RGS family, which negatively regulates G protein-coupled receptor (GPCR) signaling by acting as GTPase-activating proteins (GAPs) for G alpha subunits. RGS22 is involved in modulating signal transduction pathways, including those mediated by GNAI and GNAQ. It is expressed in various tissues and has been implicated in spermatogenesis, cell migration, and cancer progression.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (various types) RGS22 may modulate GPCR signaling affecting cell proliferation and migration; altered expression observed in tumors. COSMIC; literature
Male infertility RGS22 is involved in spermatogenesis; knockout models show impaired sperm function. OMIM; literature

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 3.2 Low
Lung 1.8 Low
Liver 0.5 Not detected
Kidney 2.1 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 4.5 Moderate expression
HeLa 2.0 Low expression
A549 1.2 Low expression
MCF7 0.8 Not detected
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense <0.1% Loss of function
c.567G>A (p.Val189Met) Missense 0.2% Unknown effect
c.890_891insA Frameshift <0.1% Loss of function
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in RGS22 are predicted to cause loss of function, potentially disrupting G protein signaling regulation.

Gain of Function (GOF)

No gain-of-function mutations have been reported for RGS22.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for RGS22.

Gene Ontology (GO)

• GTPase activator activity • G protein-coupled receptor signaling pathway
• negative regulation of G protein-coupled receptor signaling pathway • cytoplasm
• plasma membrane

Pathways

GPCR downstream signaling
G alpha (i) signaling events

Protein Summary

RGS22 is a 1,198-amino acid protein containing an RGS domain that mediates its GTPase-activating protein (GAP) activity toward G alpha subunits. It is localized to the cytoplasm and plasma membrane, and plays a role in modulating GPCR signaling. RGS22 is highly expressed in testis and is essential for normal sperm function. Altered expression and mutations have been linked to cancer, suggesting a potential tumor suppressor role.

Related Products

Product name Cat.No. Species Gene ID
RGS22 Knockout HEK293 Cell Line EDJ-KQ8443 Human 26166 Details Get a Quote
RGS22 Knockout A-549 Cell Line EDJ-KQ34561 Human 26166 Details Get a Quote
RGS22 Knockout HeLa Cell Line EDJ-KQ55889 Human 26166 Details Get a Quote
RGS22 Knockout HCT 116 Cell Line EDJ-KQ72830 Human 26166 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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