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Aliases for GPSM2 Gene

Aliases for GPSM2 Gene

  • G-Protein Signaling Modulator 2 2 3
  • LGN 3 4 6
  • G-Protein Signalling Modulator 2 (AGS3-Like, C. Elegans) 2 3
  • Mosaic Protein LGN 3 4
  • DFNB82 3 6
  • CMCS 3 6
  • PINS 3 6
  • Deafness, Autosomal Recessive 82 2
  • G-Protein-Signaling Modulator 2 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).[provided by RefSeq, Jan 2011]

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 nonsyndromic deafness. 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 spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions.

Gene Wiki entry for GPSM2 Gene

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

Genomics for GPSM2 Gene

Regulatory Elements for GPSM2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for GPSM2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with INSC/inscuteable and probably with F2RL2.
    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 splindle regulator protein NuMA
    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

Proteomics data for GPSM2 Gene at MOPED

Post-translational modifications for GPSM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for GPSM2 Gene

No data available for DME Specific Peptides for GPSM2 Gene

Domains for GPSM2 Gene

Gene Families for GPSM2 Gene

HGNC:
  • TTC :Tetratricopeptide (TTC) repeat domain containing

Suggested Antigen Peptide Sequences for GPSM2 Gene

Graphical View of Domain Structure for InterPro Entry

P81274

UniProtKB/Swiss-Prot:

GPSM2_HUMAN :
  • P81274
Domain:
  • Contains 4 GoLoco domains.
Family:
  • Belongs to the GPSM family.
Similarity:
  • Contains 8 TPR repeats.
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 spindle pole orientation. Interacts and contributes to the functional activity of G(i) alpha proteins. Acts to stabilize the apical complex during neuroblast divisions.

Gene Ontology (GO) - Molecular Function for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005092 GDP-dissociation inhibitor activity --
GO:0005515 protein binding IPI 15537540
GO:0030695 GTPase regulator activity IEA --
GO:0042802 identical protein binding IPI 15537540
genes like me logo Genes that share ontologies with GPSM2: view

Phenotypes for GPSM2 Gene

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

Animal Models for GPSM2 Gene

MGI Knock Outs for GPSM2:

Animal Model Products

CRISPR Products

miRNA for GPSM2 Gene

miRTarBase miRNAs that target GPSM2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPSM2

In Situ Assay Products

Flow Cytometry Products

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

Localization for GPSM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for GPSM2 Gene

Cytoplasm. Cytoplasm, cell cortex. Note=Localizes in the cytoplasm in the interphase and at cell periphery in the metaphase.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GPSM2 Gene COMPARTMENTS Subcellular localization image for GPSM2 gene
Compartment Confidence
cytosol 4
nucleus 4
cytoskeleton 1
extracellular 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005737 cytoplasm IDA --
GO:0005938 cell cortex IEA --
GO:0045177 apical part of cell IEA --
genes like me logo Genes that share ontologies with GPSM2: view

Pathways for GPSM2 Gene

SuperPathways for GPSM2 Gene

No Data Available

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for GPSM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000132 establishment of mitotic spindle orientation IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS 8973305
GO:0008277 regulation of G-protein coupled receptor protein signaling pathway --
GO:0050790 regulation of catalytic activity IEA --
GO:0060487 lung epithelial cell differentiation IEA --
genes like me logo Genes that share ontologies with GPSM2: view

No data available for Pathways by source for GPSM2 Gene

Transcripts for GPSM2 Gene

Unigene Clusters for GPSM2 Gene

G-protein signaling modulator 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for GPSM2

Primer Products

Flow Cytometry Products

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 for GPSM2 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for GPSM2 Gene

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

In Situ Assay 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 35
  • 99.56 (n)
  • 99.71 (a)
GPSM2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia GPSM2 35
  • 92.01 (n)
  • 93.97 (a)
GPSM2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia GPSM2 35
  • 92.88 (n)
  • 94.44 (a)
GPSM2 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Gpsm2 35
  • 86.02 (n)
  • 92.32 (a)
Gpsm2 16
Gpsm2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GPSM2 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 84 (a)
OneToMany
-- 36
  • 76 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Gpsm2 35
  • 83.93 (n)
  • 90.24 (a)
chicken
(Gallus gallus)
Aves GPSM2 35
  • 79.4 (n)
  • 85.1 (a)
GPSM2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia GPSM2 36
  • 83 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia ags3-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia gpsm2 35
  • 71.75 (n)
  • 80.43 (a)
Str.9966 35
zebrafish
(Danio rerio)
Actinopterygii gpsm2 35
  • 67.04 (n)
  • 72.57 (a)
gpsm2 36
  • 68 (a)
OneToMany
gpsm2l 36
  • 81 (a)
OneToMany
zgc63574 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008977 35
  • 57.43 (n)
  • 61.83 (a)
fruit fly
(Drosophila melanogaster)
Insecta raps 35
  • 56.51 (n)
  • 58.21 (a)
raps 36
  • 48 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ags-3 35
  • 44.42 (n)
  • 34.17 (a)
ags-3 36
  • 30 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2755 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5850 36
  • 56 (a)
ManyToMany
CSA.9104 36
  • 33 (a)
ManyToMany
Species with no ortholog for GPSM2:
  • 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

Selected 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 MAF
rs168106 -- 108,919,817(+) TACCC(C/T)ATAAT intron-variant
rs338468 -- 108,896,740(+) ATAAA(C/T)TTCAG intron-variant
rs338469 -- 108,918,160(+) AATTT(A/C)GTATG intron-variant
rs338470 -- 108,918,341(+) TTTTA(C/T)AGAGT intron-variant
rs338471 -- 108,919,196(+) agaga(C/T)ggggt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv15n21 CNV Gain 19592680
nsv831026 CNV Loss 17160897

Relevant External Links for GPSM2 Gene

HapMap Linkage Disequilibrium report
GPSM2
Human Gene Mutation Database (HGMD)
GPSM2

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

Disorders for GPSM2 Gene

(1) OMIM Diseases for GPSM2 Gene (609245)

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.

(2) University of Copenhagen DISEASES for GPSM2 Gene

Relevant External Links for GPSM2

Genetic Association Database (GAD)
GPSM2
Human Genome Epidemiology (HuGE) Navigator
GPSM2
genes like me logo Genes that share disorders with GPSM2: view

Publications for GPSM2 Gene

  1. 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 23
  2. 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
  3. 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
  4. 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
  5. Expression analysis and subcellular distribution of the two G-protein regulators AGS3 and LGN indicate distinct functionality. Localization of LGN to the midbody during cytokinesis. (PMID: 11832491) Blumer J.B. … Lanier S.M. (J. Biol. Chem. 2002) 2 3

Products for GPSM2 Gene

  • Addgene plasmids for GPSM2

Sources for GPSM2 Gene

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