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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GPSM2 Gene

protein-coding   GIFtS: 56
GCID: GC01P109417

G-Protein Signaling Modulator 2

(Previous names: G-protein signalling modulator 2 (AGS3-like, C. elegans),...)
(Previous symbol: DFNB82)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
G-Protein Signaling Modulator 21 2     PINS2 5
DFNB821 2 5     Deafness, Autosomal Recessive 821
LGN2 3 5     CMCS2
G-Protein Signalling Modulator 2 (AGS3-Like, C. Elegans)1 2     G-Protein-Signaling Modulator 22
Mosaic Protein LGN2 3     

External Ids:    HGNC: 295011   Entrez Gene: 298992   Ensembl: ENSG000001219577   OMIM: 6092455   UniProtKB: P812743   

Export aliases for GPSM2 gene to outside databases

Previous GC identifers: GC01P108766 GC01P109131 GC01P109220 GC01P107312


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 GDP-dissociation inhibitor activity and identical protein binding. An important paralog of this gene is TTC28.

UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274
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 Wiki entry for GPSM2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_032977.9  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the GPSM2 gene promoter:
         STAT5B   C/EBPbeta   p53   HSF1 (long)   CUTL1   FOXJ2 (long isoform)   HSF1short   ARP-1   FOXJ2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidGPSM2 promoter sequence
   Search SABiosciences Chromatin IP Primers for GPSM2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GPSM2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p13.3   Ensembl cytogenetic band:  1p13.3   HGNC cytogenetic band: 1p13.3

GPSM2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GPSM2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P109417:  view genomic region     (about GC identifiers)

Start:
109,417,972 bp from pter      End:
109,473,044 bp from pter
Size:
55,073 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274 (See protein sequence)
Recommended Name: G-protein-signaling modulator 2  
Size: 684 amino acids; 76662 Da
Subunit: Interacts with LLGL2. Interacts with INSC/inscuteable and probably with F2RL2
Subcellular location: Cytoplasm. Cytoplasm, cell cortex. Note=Localizes in the cytoplasm in the interphase and at
cell periphery in the metaphase
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
Caution: It is uncertain whether Met-1 or Met-8 is the initiator
Caution: Mutations in GPSM2 have been identified in people with profound congenital non-syndromic deafness
designated as DFNB82 (PubMed:20602914). Subsequent brain imaging of these individuals has revealed frontal
polymicrogyria, abnormal corpus callosum, and gray matter heterotopia, consistent with a diagnosis of
Chudley-McCullough syndrome (PubMed:22578326)
Sequence caution: Sequence=AAB40385.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH27732.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
1 PDB 3D structure from and Proteopedia for GPSM2:
3SF4 (3D)    
Secondary accessions: Q5T1N8 Q6IBL7 Q8N0Z5

Explore the universe of human proteins at neXtProt for GPSM2: NX_P81274

Explore proteomics data for GPSM2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P81274

  • GPSM2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GPSM2 Protein Expression
    REFSEQ proteins: NP_037428.3  
    ENSEMBL proteins: 
     ENSP00000385510   ENSP00000408664   ENSP00000401948   ENSP00000392138   ENSP00000390629  
     ENSP00000264126  

    Human Recombinant Protein Products for GPSM2: 
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    Novus Biologicals GPSM2 Protein
    Novus Biologicals GPSM2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GPSM2 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005938cell cortex IEA--
    GO:0045177apical part of cell IEA--

    GPSM2 for ontologies           About GeneDecksing



    GPSM2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    TTC: Tetratricopeptide (TTC) repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR011990 TPR-like_helical
     IPR024807 G_prot_signal_mod_2
     IPR003109 GoLoco_motif
     IPR001440 TPR-1
     IPR013026 TPR-contain_dom

    Graphical View of Domain Structure for InterPro Entry P81274

    ProtoNet protein and cluster: P81274

    2 Blocks protein domains:
    IPB003109 G-alpha GTPase activator
    IPB011717 Tetratricopeptide TPR_4


    UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274
    Similarity: Belongs to the GPSM family
    Similarity: Contains 4 GoLoco domains
    Similarity: Contains 8 TPR repeats


    GPSM2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: GPSM2_HUMAN, P81274
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005092GDP-dissociation inhibitor activity IEA--
    GO:0005515protein binding IPI15537540
    GO:0030695GTPase regulator activity ----
    GO:0042802identical protein binding IPI15537540
         
    GPSM2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GPSM2:
     Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Gpsm2):
     cellular  nervous system  no phenotypic analysis 

    GPSM2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Gpsm2tm1.2Fuma for GPSM2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for GPSM2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for GPSM2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GPSM2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GPSM2 

    miRNA
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    miRTarBase miRNAs that target GPSM2:
    hsa-mir-373 (MIRT002524)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GPSM2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GPSM2:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidGPSM2 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of GPSM2 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPSM2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for GPSM2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/19 Interacting proteins for GPSM2 (P812741, 2, 3 ENSP000002641264) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GLIS2Q9BZE02, 3, ENSP000002623664MINT-4651583 I2D: score=2 STRING: ENSP00000262366
    NUMA1Q149801, 3EBI-618655,EBI-521611 I2D: score=4 
    GNAI1P630961, 3, ENSP000003430274EBI-618655,EBI-618639 I2D: score=4 STRING: ENSP00000343027
    GNAO1P094713, ENSP000002624934I2D: score=3 STRING: ENSP00000262493
    HRASP011123, ENSP000003098454I2D: score=3 STRING: ENSP00000309845
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000132establishment of mitotic spindle orientation IEA--
    GO:0007186G-protein coupled receptor signaling pathway TAS8973305
    GO:0008277regulation of G-protein coupled receptor protein signaling pathway IEA--
    GO:0060487lung epithelial cell differentiation IEA--

    GPSM2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GPSM2

    Search CenterWatch for drugs/clinical trials and news about GPSM2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for GPSM2 gene: 
    NM_013296.4  

    Unigene Cluster for GPSM2:

    G-protein signaling modulator 2
    Hs.584901  [show with all ESTs]
    Unigene Representative Sequence: AB445462
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000406462(uc010ovc.2 uc010ovd.2) ENST00000435987 ENST00000435475
    ENST00000446797 ENST00000441735 ENST00000264126(uc010ove.1)
    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GPSM2
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GPSM2:
    hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidGPSM2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPSM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPSM2
    Sirion Biotech Customized lentivirus for stable overexpression of GPSM2 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GPSM2
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    Additional mRNA sequence: 

    AB445462.1 AK000053.1 AK295563.1 AK314249.1 AY136740.1 BC027732.2 CR456786.1 U54999.1 

    9 DOTS entries:

    DT.415885  DT.86847607  DT.92446336  DT.92446330  DT.95195825  DT.75104045  DT.86850970  DT.91696859 
    DT.100791168 

    24/190 AceView cDNA sequences (see all 190):

    AI139458 BM456853 BC027732 BX458177 AA233248 NM_013296 AY136740 AA026593 
    BF063260 AA281800 AW951354 AI275107 CB145889 AA026126 AI343490 CR456786 
    AA424572 BM994978 AA694348 BQ027123 BU529112 AA910062 CR602234 BQ942994 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for GPSM2 (see all 8)    About this scheme

    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:                                                                                                                                                      


    ECgene alternative splicing isoforms for GPSM2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GPSM2 expression in normal human tissues (normalized intensities)      GPSM2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GPSM2 Expression
    About this image


    GPSM2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)
             Human Pulmonary Fibroblasts (HPF)   
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...
     
     Fibroblast (Respiratory System)
             Human Pulmonary Fibroblasts (HPF)   
     
     Esophagus (Gastrointestinal Tract)

    See GPSM2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GPSM2

    SOURCE GeneReport for Unigene cluster: Hs.584901

    UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274
    Tissue specificity: Ubiquitously expressed

        SABiosciences Expression via Pathway-Focused PCR Array including GPSM2: 
              Notch Signaling Targets in human mouse rat

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    Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPSM2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPSM2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for GPSM2 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gpsm21 , 5 G-protein signalling modulator 2 (AGS3-like, C. elegans)1, 5 86.02(n)1
    92.32(a)1
      3 (47.53 cM)5
    761231  NM_029522.21  NP_083798.21 
     1086786385 
    chicken
    (Gallus gallus)
    Aves GPSM21 G-protein signaling modulator 2 79.71(n)
    85.21(a)
      424342  XM_422185.3  XP_422185.3 
    lizard
    (Anolis carolinensis)
    Reptilia GPSM26
    G-protein signaling modulator 2
    82(a)
    1 ↔ 1
    GL343211.1(2100804-2131331)
    African clawed frog
    (Xenopus laevis)
    Amphibia ags3-prov2 LGN protein 76.41(n)    BC041257.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc635742 hypothetical protein MGC63574 74.24(n)   393410  BC054918.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta raps1 rapsynoid 56.39(n)
    58.35(a)
      53569  NM_080260.3  NP_524999.2 
    worm
    (Caenorhabditis elegans)
    Secernentea ags-31 Protein AGS-3 44.9(n)
    33.99(a)
      180801  NM_171684.3  NP_741787.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPSM2 gene
    TTC282  GPSM12  
    2 SIMAP similar genes for GPSM2 using alignment to 5 protein entries:     GPSM2_HUMAN (see all proteins):
    GPSM1    PCP2

    GPSM2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1057 SNPs in GPSM2 are shown (see all 1057)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105689081,2
    C--109420137(+) GAGTC-/T/TT  
            
    TTTTT
    1 -- int12NA CSA 4
    rs563237591,2
    C--109423201(+) AAAAA-/ACAATG 1 -- int10--------
    rs771137611,2
    C,F--109432088(+) GTAAGC/TATGCT 1 -- int14Minor allele frequency- T:0.09WA NA 242
    rs715911261,2
    C--109434286(+) TTTTT-/T/T   
      T
    /TTTT
    TTTTT
    1 -- int11NA 2
    rs584022271,2
    C--109447602(+) AGTCT-/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 2
    rs593568561,2
    C--109453484(+) AAAAA-/ATTCAA 1 -- int10--------
    rs342669851,2
    C--109455200(+) TGTAT-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs1118586461,2
    C,F--109458111(+) TGGCGC/TGATCT 1 -- int11Minor allele frequency- T:0.50NA 2
    rs118049801,2
    H--109460285(+) atataA/TataAa 1 -- int10--------
    rs352295601,2
    C--109462850(+) CTTCGG/TGAGGC 1 -- int10--------

    HapMap Linkage Disequilibrium report for GPSM2 (109417972 - 109473044 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for GPSM2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv831026CNV Loss17160897
    dgv15n21CNV Gain19592680


    Human Gene Mutation Database (HGMD): GPSM2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing GPSM2
    DNA2.0 Custom Variant and Variant Library Synthesis for GPSM2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609245   
    OMIM disorders: 613557  
    UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 14 diseases for GPSM2:    About MalaCards
    chudley-mccullough syndrome    autosomal recessive nonsyndromic deafness    deafness, autosomal recessive 82    nonsyndromic deafness
    prosopagnosia    dihydropyrimidine dehydrogenase deficiency    polymicrogyria    brain malformations
    hydrocephalus    malaria    pancreatic cancer    hypertension
    pancreatitis    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for GPSM2:
    Nonsyndromic deafness     Hodgkin's lymphoma, nodular sclerosis

    GPSM2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): GPSM2
    Human Genome Epidemiology (HuGE) Navigator: GPSM2 (3 documents)

    Export disorders for GPSM2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for GPSM2 gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with GPSM2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Whole exome sequencing and homozygosity mapping ident ify mutation in the cell polarity protein GPSM2 as the cause of nonsyndromic he aring loss DFNB82. (PubMed id 20602914)1, 2, 3 Walsh T....Kanaan M. (2010)
    2. Identification and cDNA cloning of a novel human mosaic protein, LGN, based on interaction with G alpha i2. (PubMed id 8973305)1, 2, 3 Mochizuki N.... Insel P.A. (1996)
    3. Two forms of human Inscuteable-related protein that links Par3 to the Pins homologues LGN and AGS3. (PubMed id 16458856)1, 2, 9 Izaki T.... Sumimoto H. (2006)
    4. GPSM2 mutations cause the brain malformations and hear ing loss in Chudley-McCullough syndrome. (PubMed id 22578326)1, 2 Doherty D....Zelinski T. (2012)
    5. A truncating mutation in GPSM2 is associated with rec essive nonsyndromic hearing loss. (PubMed id 21348867)1, 3 Yariz K.O....Tekin M. (2011)
    6. Centrosome-related genes, genetic variation, and risk of breast cancer. (PubMed id 20508983)1, 4 Olson J.E....Couch F.J. (2010)
    7. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families. (PubMed id 19888295)1, 3 Shahin H....Kanaan M. (2010)
    8. Direct binding of Lgl2 to LGN during mitosis and its requirement for normal cell division. (PubMed id 15632202)1, 2 Yasumi M.... Takai Y. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 29899 HGNC: 29501 AceView: GPSM2 Ensembl:ENSG00000121957 euGenes: HUgn29899
    ECgene: GPSM2 H-InvDB: GPSM2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for GPSM2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for GPSM2 gene:
    Search GeneIP for patents involving GPSM2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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