GPSM2
G-protein-signaling modulator 2
Also known as: DFNB82, GPSM2_HUMAN, LGN, Pins
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P81274
- Gene
- GPSM2
- Ensembl
- ENSG00000121957
- Chromosome
- 1
- Canonical length
- 684 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins
- Subcellular location
- Cytosol
OverviewNCBI Gene
The protein encoded by this gene belongs to a family of proteins that modulate activation of G proteins, which transduce extracellular signals received by cell surface receptors into integrated cellular responses. The N-terminal half of this protein contains 10 copies of leu-gly-asn (LGN) repeat, and the C-terminal half contains 4 GoLoco motifs, which are involved in guanine nucleotide exchange. This protein may play a role in neuroblast division and in the development of normal hearing. Mutations in this gene are associated with autosomal recessive nonsyndromic deafness (DFNB82). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Canonical amino-acid sequenceUniProt
684 residues, UniProt reviewed canonical sequence.
>P81274|GPSM2
1 MEENLISMRE DHSFHVRYRM EASCLELALE GERLCKSGDC RAGVSFFEAA VQVGTEDLKT
61 LSAIYSQLGN AYFYLHDYAK ALEYHHHDLT LARTIGDQLG EAKASGNLGN TLKVLGNFDE
121 AIVCCQRHLD ISRELNDKVG EARALYNLGN VYHAKGKSFG CPGPQDVGEF PEEVRDALQA
181 AVDFYEENLS LVTALGDRAA QGRAFGNLGN THYLLGNFRD AVIAHEQRLL IAKEFGDKAA
241 ERRAYSNLGN AYIFLGEFET ASEYYKKTLL LARQLKDRAV EAQSCYSLGN TYTLLQDYEK
301 AIDYHLKHLA IAQELNDRIG EGRACWSLGN AYTALGNHDQ AMHFAEKHLE ISREVGDKSG
361 ELTARLNLSD LQMVLGLSYS TNNSIMSENT EIDSSLNGVR PKLGRRHSME NMELMKLTPE
421 KVQNWNSEIL AKQKPLIAKP SAKLLFVNRL KGKKYKTNSS TKVLQDASNS IDHRIPNSQR
481 KISADTIGDE GFFDLLSRFQ SNRMDDQRCC LQEKNCHTAS TTTSSTPPKM MLKTSSVPVV
541 SPNTDEFLDL LASSQSRRLD DQRASFSNLP GLRLTQNSQS VLSHLMTNDN KEADEDFFDI
601 LVKCQGSRLD DQRCAPPPAT TKGPTVPDED FFSLILRSQG KRMDEQRVLL QRDQNRDTDF
661 GLKDFLQNNA LLEFKNSGKK SADHLocalizationUniProt · AlphaFold · HPA
Whether an antibody against GPSM2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.43
- Highest tissue expression
- 51 nTPM
Expression across tissuesHPA
Tissue
- tongue: 51 nTPM
- skin: 34 nTPM
- spinal cord: 33 nTPM
- esophagus: 32 nTPM
- midbrain: 26 nTPM
- amygdala: 21 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 246 nCPM
- esophageal apical cells: 234 nCPM
- fibro-adipogenic progenitors: 218 nCPM
- oligodendrocytes: 194 nCPM
- cone photoreceptor cells: 178 nCPM
- myosatellite cells: 175 nCPM
Immune cell
- eosinophil: 2.8 nTPM
- T-reg: 1.6 nTPM
- basophil: 0.2 nTPM
- myeloid DC: 0.2 nTPM
- neutrophil: 0.2 nTPM
- classical monocyte: 0.1 nTPM
Brain region
- white matter: 75 nTPM
- basal ganglia: 63 nTPM
- midbrain: 59 nTPM
- thalamus: 58 nTPM
- cerebellum: 55 nTPM
- medulla oblongata: 54 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GPSM2.
Disease | AllUniProt
Conditions GPSM2 is implicated in, by any mechanism.
- Chudley-McCullough syndrome (CMCS) MIM:604213
Disease | GeneticClinVar
37 pathogenic / likely-pathogenic of 348 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Chudley-McCullough syndrome
- Rare genetic deafness
- GPSM2-related disorder
- Hearing loss, autosomal recessive
- Fetal anomalies with a likely genetic cause
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.86
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.26
- DepMap mean gene effect
- -0.13
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cell division
- establishment of mitotic spindle orientation
- G protein-coupled receptor signaling pathway
- maintenance of centrosome location
- mitotic spindle organization
- neurotransmitter receptor localization to postsynaptic specialization membrane
- positive regulation of protein localization to cell cortex
- positive regulation of spindle assembly
- regulation of mitotic spindle organization
- response to light intensity
Molecular functions
- dynein complex binding
- G-protein alpha-subunit binding
- GDP-dissociation inhibitor activity
- identical protein binding
- nucleotide binding
- protein domain specific binding
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of GPSM2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GPSM2 as an antibody target. Whether an autoantibody or antibody against GPSM2 could matter depends on whether native GPSM2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GPSM2 is annotated at the cell surface, where native GPSM2 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label GPSM2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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