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Aliases for GPSM2 Gene

Aliases for GPSM2 Gene

  • G Protein Signaling Modulator 2 2 3
  • G-Protein Signalling Modulator 2 (AGS3-Like, C. Elegans) 2 3
  • G-Protein Signaling Modulator 2 2 5
  • Mosaic Protein LGN 3 4
  • LGN 3 4
  • Deafness, Autosomal Recessive 82 2
  • G-Protein-Signaling Modulator 2 3
  • DFNB82 3
  • CMCS 3
  • PINS 3

External Ids for GPSM2 Gene

Previous HGNC Symbols for GPSM2 Gene

  • DFNB82

Previous GeneCards Identifiers for GPSM2 Gene

  • GC01P108766
  • GC01P109131
  • GC01P109220
  • GC01P109417
  • GC01P107312

Summaries for GPSM2 Gene

Entrez Gene Summary for GPSM2 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]

GeneCards Summary for GPSM2 Gene

GPSM2 (G Protein Signaling Modulator 2) is a Protein Coding gene. Diseases associated with GPSM2 include Chudley-Mccullough Syndrome and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. GO annotations related to this gene include identical protein binding and GDP-dissociation inhibitor activity. An important paralog of this gene is GPSM1.

UniProtKB/Swiss-Prot for GPSM2 Gene

  • Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:15632202, PubMed:21816348). 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).

Gene Wiki entry for GPSM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GPSM2 Gene

Genomics for GPSM2 Gene

Regulatory Elements for GPSM2 Gene

Enhancers for GPSM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G108827 1.6 Ensembl ENCODE dbSUPER 13.2 -45.1 -45133 4.8 HDGF PKNOX1 FOXA2 SIN3A ZNF2 YY1 CBX5 ZNF143 FOS DEK GPSM2 SPATA42 AKNAD1 WDR47 HENMT1 LOC105378891 GC01P108791
GH01G108845 1 ENCODE 17.5 -29.1 -29148 2.2 HDGF PKNOX1 ARNT TCF12 ZNF121 KLF13 NCOA1 REST ZNF592 MEF2D GPSM2 GC01M108838 SPATA42
GH01G109132 1.5 Ensembl ENCODE dbSUPER 4.8 +260.9 260915 7.4 PKNOX1 ATF1 CREB3L1 ARNT ARID4B E2F7 FEZF1 TCF12 ZNF766 ELK1 TMEM167B SARS SORT1 C1orf194 KIAA1324 GPSM2 GC01M109207
GH01G109801 1.2 Ensembl ENCODE dbSUPER 5.4 +927.4 927358 1.7 CTCF NR2F1 ZIC2 TCF12 ZSCAN21 PRDM6 SMARCA4 POLR2A GLIS1 ZNF512 CSF1 ENSG00000254942 GPR61 GPSM2 GC01M109813 PIR57260
GH01G108851 1 Ensembl ENCODE 5.3 -23.1 -23082 1.9 HDGF BCOR ATF1 ZMYM3 CEBPG ZNF384 FOSL1 ZNF121 NR2F6 NFE2 SPATA42 CLCC1 GPSM2 GC01M108838
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around GPSM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for GPSM2 Gene

Chromosome:
1
Start:
108,875,350 bp from pter
End:
108,934,545 bp from pter
Size:
59,196 bases
Orientation:
Plus strand

Genomic View for GPSM2 Gene

Genes around GPSM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GPSM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GPSM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GPSM2 Gene

Proteins for GPSM2 Gene

  • Protein details for GPSM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P81274-GPSM2_HUMAN
    Recommended name:
    G-protein-signaling modulator 2
    Protein Accession:
    P81274
    Secondary Accessions:
    • Q5T1N8
    • Q6IBL7
    • Q8N0Z5

    Protein attributes for GPSM2 Gene

    Size:
    684 amino acids
    Molecular mass:
    76662 Da
    Quaternary structure:
    • Interacts with LLGL2 (PubMed:15632202). Interacts (via TPR repeat region) with INSC/inscuteable (PubMed:16458856, PubMed:22074847). Interacts (via TPR repeat region) with NUMA1. INSC and NUMA1 compete for the same binding site, but INSC has higher affinity and can displace NUMA1 (in vitro) (PubMed:22074847). Interacts with GNAI2 (PubMed:8973305). Interacts (via GoLoco domains) with the GDP-bound form of GNAI1 and GNAI3; has much lower affinity for the GTP-bound form. Interaction with GDP-bound GNAI3 strongly enhances the affinity for NUMA1 (By similarity). Interacts (via TPR repeat region) with FRMPD1 (PubMed:22074847). INSC and FRMPD1 compete for the same binding site, but INSC has higher affinity and can displace FRMPD1 (in vitro) (By similarity). Interacts (via TPR repeat region) with FRMPD4 (PubMed:22074847, PubMed:25664792). Identified in a complex with INSC and F2RL2/Par3 (PubMed:16458856).
    Miscellaneous:
    • Dysfunction of LGN is associated with the phenotype of multiple micronuclei due to chromosomal mis-segregation and defect in cell division through mis-localization of mitotic spindle regulator protein NUMA1.
    SequenceCaution:
    • Sequence=AAB40385.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH27732.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for GPSM2 Gene

neXtProt entry for GPSM2 Gene

Post-translational modifications for GPSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for GPSM2 Gene

Domains & Families for GPSM2 Gene

Suggested Antigen Peptide Sequences for GPSM2 Gene

Graphical View of Domain Structure for InterPro Entry

P81274

UniProtKB/Swiss-Prot:

GPSM2_HUMAN :
  • Belongs to the GPSM family.
Family:
  • Belongs to the GPSM family.
genes like me logo Genes that share domains with GPSM2: view

Function for GPSM2 Gene

Molecular function for GPSM2 Gene

UniProtKB/Swiss-Prot Function:
Plays an important role in mitotic spindle pole organization via its interaction with NUMA1 (PubMed:15632202, PubMed:21816348). 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).

Gene Ontology (GO) - Molecular Function for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0001965 G-protein alpha-subunit binding IEA --
GO:0005092 GDP-dissociation inhibitor activity ISS --
GO:0005515 protein binding IPI 11781568
GO:0030695 GTPase regulator activity IEA --
genes like me logo Genes that share ontologies with GPSM2: view
genes like me logo Genes that share phenotypes with GPSM2: view

Human Phenotype Ontology for GPSM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for GPSM2 Gene

MGI Knock Outs for GPSM2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GPSM2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for GPSM2 Gene

Localization for GPSM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPSM2 Gene

Cytoplasm. Cytoplasm, cell cortex. Cytoplasm, cytoskeleton, spindle pole. Note=Localizes in the cytoplasm during interphase and at cell cortex during metaphase (PubMed:15632202, PubMed:22074847). Colocalizes with NUMA1 to mitotic spindle poles (PubMed:21816348). {ECO:0000269 PubMed:15632202, ECO:0000269 PubMed:21816348, ECO:0000269 PubMed:22074847}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GPSM2 gene
Compartment Confidence
cytosol 5
cytoskeleton 4
nucleus 3
plasma membrane 2
extracellular 2
mitochondrion 1
endosome 1

Gene Ontology (GO) - Cellular Components for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IEA --
GO:0005737 cytoplasm IEA,IDA 11781568
GO:0005829 cytosol IDA --
GO:0005856 cytoskeleton IEA --
GO:0005938 cell cortex IEA,IDA 21816348
genes like me logo Genes that share ontologies with GPSM2: view

Pathways & Interactions for GPSM2 Gene

SuperPathways for GPSM2 Gene

No Data Available

SIGNOR curated interactions for GPSM2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IMP 22327364
GO:0007052 mitotic spindle organization IMP 21816348
GO:0007186 G-protein coupled receptor signaling pathway TAS 8973305
GO:0031291 Ran protein signal transduction IMP 22327364
GO:0050790 regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with GPSM2: view

No data available for Pathways by source for GPSM2 Gene

Drugs & Compounds for GPSM2 Gene

No Compound Related Data Available

Transcripts for GPSM2 Gene

Unigene Clusters for GPSM2 Gene

G-protein signaling modulator 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for GPSM2

Alternative Splicing Database (ASD) splice patterns (SP) for GPSM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1:
SP2:
SP3: - - -
SP4: - - - - -
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for GPSM2 Gene

GeneLoc Exon Structure for
GPSM2
ECgene alternative splicing isoforms for
GPSM2

Expression for GPSM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GPSM2 Gene

Protein differential expression in normal tissues from HIPED for GPSM2 Gene

This gene is overexpressed in Testis (46.3) and Fetal heart (22.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for GPSM2 Gene



Protein tissue co-expression partners for GPSM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of GPSM2 Gene:

GPSM2

SOURCE GeneReport for Unigene cluster for GPSM2 Gene:

Hs.584901

mRNA Expression by UniProt/SwissProt for GPSM2 Gene:

P81274-GPSM2_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for GPSM2 Gene

  • Nervous system(4.7)
  • Muscle(4.4)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for GPSM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • meninges
  • middle ear
  • outer ear
  • skull
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with GPSM2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for GPSM2 Gene

Orthologs for GPSM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for GPSM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia GPSM2 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia GPSM2 34 35
  • 92.88 (n)
cow
(Bos Taurus)
Mammalia GPSM2 34 35
  • 92.01 (n)
oppossum
(Monodelphis domestica)
Mammalia GPSM2 35
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 84 (a)
OneToMany
-- 35
  • 76 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Gpsm2 34 16 35
  • 86.02 (n)
rat
(Rattus norvegicus)
Mammalia Gpsm2 34
  • 83.93 (n)
chicken
(Gallus gallus)
Aves GPSM2 35 34
  • 79.4 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPSM2 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia gpsm2 34
  • 71.75 (n)
Str.9966 34
African clawed frog
(Xenopus laevis)
Amphibia ags3-prov 34
zebrafish
(Danio rerio)
Actinopterygii gpsm2l 35
  • 81 (a)
OneToMany
gpsm2 34 35
  • 67.04 (n)
zgc63574 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008977 34
  • 57.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta raps 34 35
  • 56.51 (n)
worm
(Caenorhabditis elegans)
Secernentea ags-3 34 35
  • 44.42 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5850 35
  • 56 (a)
ManyToMany
CSA.9104 35
  • 33 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2755 34
Species where no ortholog for GPSM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GPSM2 Gene

ENSEMBL:
Gene Tree for GPSM2 (if available)
TreeFam:
Gene Tree for GPSM2 (if available)

Paralogs for GPSM2 Gene

Paralogs for GPSM2 Gene

(2) SIMAP similar genes for GPSM2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with GPSM2: view

Variants for GPSM2 Gene

Sequence variations from dbSNP and Humsavar for GPSM2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs145191476 Pathogenic 108,924,060(+) CAGCT(A/C)ACAGA reference, stop-gained
rs267606854 Pathogenic 108,897,592(+) GTCAG(C/T)GACAC reference, stop-gained
rs387907010 Pathogenic 108,924,083(+) ATGAC(C/T)AGAGG reference, stop-gained
rs528069912 Pathogenic 108,898,938(+) AGCAA(-/C)CTTGG reference, frameshift-variant
rs727505300 Pathogenic 108,898,003(+) TATCA(-/TG)CCAAA reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for GPSM2 Gene

Variant ID Type Subtype PubMed ID
dgv15n21 CNV gain 19592680
dgv251n100 CNV loss 25217958
esv3587140 CNV gain 21293372
esv3587141 CNV loss 21293372
nsv1005738 CNV loss 25217958
nsv547425 CNV gain 21841781
nsv831026 CNV loss 17160897

Variation tolerance for GPSM2 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.06% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for GPSM2 Gene

Human Gene Mutation Database (HGMD)
GPSM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
GPSM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GPSM2 Gene

Disorders for GPSM2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for GPSM2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
chudley-mccullough syndrome
  • deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
prostate carcinoma in situ
  • carcinoma in situ of prostate
autosomal recessive nonsyndromic deafness
deafness, autosomal recessive 83
  • autosomal recessive nonsyndromic deafness 83
- elite association - COSMIC cancer census association via MalaCards
Search GPSM2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

GPSM2_HUMAN
  • Chudley-McCullough syndrome (CMCS) [MIM:604213]: An autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. Psychomotor development is normal. {ECO:0000269 PubMed:20602914, ECO:0000269 PubMed:22578326}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for GPSM2

Genetic Association Database (GAD)
GPSM2
Human Genome Epidemiology (HuGE) Navigator
GPSM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GPSM2
genes like me logo Genes that share disorders with GPSM2: view

No data available for Genatlas for GPSM2 Gene

Publications for GPSM2 Gene

  1. Whole exome sequencing and homozygosity mapping identify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic hearing loss DFNB82. (PMID: 20602914) Walsh T. … Kanaan M. (Am. J. Hum. Genet. 2010) 2 3 4 64
  2. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. (PMID: 16458856) Izaki T. … Sumimoto H. (Biochem. Biophys. Res. Commun. 2006) 3 4 22 64
  3. Identification and cDNA cloning of a novel human mosaic protein, LGN, based on interaction with G alpha i2. (PMID: 8973305) Mochizuki N. … Insel P.A. (Gene 1996) 2 3 4 64
  4. Structural basis for the recognition of the scaffold protein Frmpd4/Preso1 by the TPR domain of the adaptor protein LGN. (PMID: 25664792) Takayanagi H. … Sumimoto H. (Acta Crystallogr. F 2015) 3 4 64
  5. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. (PMID: 21348867) Yariz K.O. … Tekin M. (Clin. Genet. 2012) 2 3 64

Products for GPSM2 Gene

  • Addgene plasmids for GPSM2

Sources for GPSM2 Gene

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