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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)
 Explore 12 diseases affiliated with
GPSM2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for GPSM2    

Aliases
for GPSM2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
G-Protein Signaling Modulator 21 2     PINS2 5
LGN1 2 3 5     Pins1
DFNB821 2 5     Deafness, Autosomal Recessive 821
G-Protein Signalling Modulator 2 (AGS3-Like, C. Elegans)1 2     CMCS2
Mosaic Protein LGN2 3     G-Protein-Signaling Modulator 22

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


Summaries
for GPSM2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
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 plasmid: GPSM2 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

Proteins
for GPSM2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P81274

    • GPSM2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: GPSM2
    OriGene Custom Protein Services for GPSM2 
    GenScript Custom Purified and Recombinant Proteins Services for GPSM2
    Novus Biologicals GPSM2 Protein
    Novus Biologicals GPSM2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of GPSM2
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    Novus Biologicals GPSM2 Antibodies
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    Uscn Antibodies for GPSM2
    ThermoFisher Antibodies for GPSM2

    Assay Products for GPSM2: 
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    Uscn ELISAs and CLIAs for GPSM2

    Protein Domains /
    Families
    for GPSM2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    GPSM2 for domains           About GeneDecksing

    5/6 InterPro domains/families (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 families:
    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


    Function
    for GPSM2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    OriGene 3'-UTR Clone: GPSM2
    Browse MicroRNA Expression Plasmids
    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 plasmid: GPSM2 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GPSM2 (see all 4)
    OriGene shRNA RFP: GPSM2
    OriGene siRNA: GPSM2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GPSM2

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for GPSM2

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GPSM2 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GPSM2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GPSM2 (NM_013296)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPSM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPSM2 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for GPSM2
    Search LifeMap BioReagents cell lines for GPSM2

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GPSM2

    Gene Ontology (GO): 3 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:0042802identical protein binding IPI15537540


    GPSM2 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Gpsm2tm1.2Fuma for GPSM2
         3 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Gpsm2):
     cellular  nervous system  no phenotypic analysis 

    GPSM2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for GPSM2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for GPSM2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for GPSM2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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
    Products:             		 OriGene 3'-UTR Clone: GPSM2
    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: GPSM2 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GPSM2 (see all 4)
    OriGene shRNA RFP: GPSM2
    OriGene siRNA: GPSM2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GPSM2
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for GPSM2 (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for GPSM2 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: GPSM2 (NM_013296)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GPSM2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GPSM2 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat GPSM2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GPSM2
      Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GPSM2

    Additional cDNA 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):

    AA026593 BF063260 CR456786 BQ879686 AA694348 BM994978 AA026126 AI343490 
    AI139458 AY136740 AI275107 CB145889 AA281800 BQ027123 BU529112 CR602234 
    AW951354 AA910062 BQ942994 NM_013296 AI168676 AI093148 BF591034 BX458177 

    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

    Expression
    for GPSM2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    GPSM2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Definitive endoderm-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

    Primer
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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
    for GPSM2 gene

    (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 6/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 81(a)
    		 1 ↔ 1
    		 GL343211.1(2102554-2119532)
    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
    for GPSM2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for GPSM2 gene
    TTC282  TTC242  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



    Genomic Variants
    for GPSM2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/803 NCBI SNPs in GPSM2 are shown (see all 803)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs774251211,2
    		C,--109417677(+) TCTCTC/ATCTAT 1 -- us2k13Minor allele frequency- A:0.09NA WA 240
    rs75230501,2
    		C,F,A,H,--109417679(+) TCTCTC/ATATAT 1 -- us2k1 trp314Minor allele frequency- A:0.20NS EA NA WA 1148
    rs745862951,2
    		F,--109417681(+) TCTCTA/CTATAT 1 -- us2k12Minor allele frequency- C:0.03WA NA 238
    rs1844322831,2
    		--109417701(+) CCTTTA/GTGGCT 1 -- us2k10--------
    rs741135201,2
    		C,--109417732(+) AAAGAA/GTTTAT 1 -- us2k13Minor allele frequency- G:0.06WA NA 240
    rs1903672971,2
    		--109417790(+) ATTCCA/GTTGTT 1 -- us2k10--------
    rs118101931,2
    		C,F,H,--109417791(+) TTCCAT/CTGTTA 1 -- us2k1 tfbs35Minor allele frequency- C:0.00NS EA NA 420
    rs1388920451,2
    		--109417830(+) TGTAAC/TGATAA 1 -- us2k10--------
    rs1857891021,2
    		--109417974(+) ACTAAA/GGAAGA 1 -- us2k10--------
    rs1894595011,2
    		--109418093(+) TAATGA/GGAAAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for GPSM2 (109417972 - 109473044 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for GPSM2
         3 CNVs: 4241 48078 48077
    Human Gene Mutation Database (HGMD): GPSM2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing GPSM2
    DNA2.0 Custom Variant and Variant Library Synthesis for GPSM2

    Disorders / Diseases
    for GPSM2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    GPSM2 for disorders           About GeneDecksing

    OMIM gene information: 609245   
    OMIM disorders: 613557  
    UniProtKB/Swiss-Prot: GPSM2_HUMAN, P81274
  • Defects in GPSM2 are the cause of 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

    12 diseases for GPSM2:    About MalaCards
    deafness, autosomal recessive 82    nonsyndromic deafness    autosomal recessive nonsyndromic deafness    dihydropyrimidine dehydrogenase deficiency
    hearing loss    prosopagnosia    pancreatic cancer    breast cancer
    pancreatitis    hypertension    malaria    neuronitis

    1 disease from the University of Copenhagen DISEASES database for GPSM2:
    Nonsyndromic deafness
    Human Genome Epidemiology (HuGE) Navigator: GPSM2 (3 documents)

    Export disorders for GPSM2 gene to outside databases

    Publications
    for GPSM2 gene

    (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 39):
    (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. 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)
    7. 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)
    8. 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)
    9. 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)
    10. 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. (PubMed id 11832491)1, 3 Blumer J.B....Lanier S.M. (2002)

    External Searches for GPSM2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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    Genome Databases showing GPSM2 gene

    (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

    Other Databases showing GPSM2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing GPSM2 gene

    (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

    Intellectual Property
    for GPSM2 gene

    (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



    Products
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     Regulatory tfbs in GPSM2 promoter
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