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    GPSM2 G protein signaling modulator 2 [ Homo sapiens (human) ]

    Gene ID: 29899, updated on 14-Nov-2024

    Summary

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    Official Symbol
    GPSM2provided by HGNC
    Official Full Name
    G protein signaling modulator 2provided by HGNC
    Primary source
    HGNC:HGNC:29501
    See related
    Ensembl:ENSG00000121957 MIM:609245; AllianceGenome:HGNC:29501
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LGN; CMCS; PINS; DFNB82
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 9.6), esophagus (RPKM 8.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GPSM2 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108876985..108934545)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108910322..108967901)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109419607..109477167)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378891 Neighboring gene AKNA domain containing 1 Neighboring gene Sharpr-MPRA regulatory region 12963 Neighboring gene spermatogenesis associated 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1431 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1139 Neighboring gene chloride channel CLIC like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109500895-109501396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109503808-109504308 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:109504309-109504809 Neighboring gene Sharpr-MPRA regulatory region 7966 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1140 Neighboring gene NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3-like Neighboring gene WD repeat domain 47 Neighboring gene ribosomal protein L17 pseudogene 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Downregulation of GPSM2 is associated with primary resistance to paclitaxel in breast cancer. Zhang Z, et al. Oncol Rep, 2020 Mar. PMID 32020211, Free PMC Article
    2. A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome. Hamzeh AR, et al. Eur J Med Genet, 2016 Jun. PMID 27180139
    3. High expression of G-protein signaling modulator 2 in hepatocellular carcinoma facilitates tumor growth and metastasis by activating the PI3K/AKT signaling pathway. He XQ, et al. Tumour Biol, 2017 Mar. PMID 28347229
    4. Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. Koenigstein K, et al. Neuropediatrics, 2016 Jun. PMID 27064331
    5. LGN Directs Interphase Endothelial Cell Behavior via the Microtubule Network. Wright CE, et al. PLoS One, 2015. PMID 26398908, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. G-Protein Signaling Modulator 2 as a Potential Biomarker in Colorectal Cancer: Integrative Analysis Using Genetic Profiling and Pan-Cancer Studies.
      Title: G-Protein Signaling Modulator 2 as a Potential Biomarker in Colorectal Cancer: Integrative Analysis Using Genetic Profiling and Pan-Cancer Studies.
    2. Truncated isoforms of GPSM2 containing the GoLoco motif region promote CD4(+) T-cell migration in SLE.
      Title: Truncated isoforms of GPSM2 containing the GoLoco motif region promote CD4(+) T-cell migration in SLE.
    3. GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival.
      Title: GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival.
    4. Loss of G-protein-signaling modulator 2 accelerates proliferation of lung adenocarcinoma via EGFR signaling pathway.
      Title: Loss of G-protein-signaling modulator 2 accelerates proliferation of lung adenocarcinoma via EGFR signaling pathway.
    5. Downregulation of GPSM2 is associated with primary resistance to paclitaxel in breast cancer.
      Title: Downregulation of GPSM2 is associated with primary resistance to paclitaxel in breast cancer.
    6. LGN has a role in cell cortex recruitment of NuMA
      Title: Intramolecular interaction in LGN, an adaptor protein that regulates mitotic spindle orientation.
    7. Study reports the crystal structure of NuMA:LGN hetero-hexamers, and unveil their role in promoting the assembly of active cortical dynein/dynactin motors that are required in orchestrating oriented divisions in polarized cells.
      Title: Hexameric NuMA:LGN structures promote multivalent interactions required for planar epithelial divisions.
    8. The results show how E-cadherin instructs the assembly of the LGN/NuMA complex at cell-cell contacts, and define a mechanism that couples cell division orientation to intercellular adhesion.
      Title: Cell division orientation is coupled to cell-cell adhesion by the E-cadherin/LGN complex.
    9. Endothelial flow mechanotransduction through the junctional complex is mediated by a specific pool of VE-cadherin that is phosphorylated on cytoplasmic tyrosine Y658 and bound to LGN.
      Title: VE-Cadherin Phosphorylation Regulates Endothelial Fluid Shear Stress Responses through the Polarity Protein LGN.
    10. In mammary stem cells, the asymmetric domain of Insc bound to LGN:Galphai(GDP) suffices to drive asymmetric fate, and reverts aberrant symmetric divisions induced by p53 loss.
      Title: Insc:LGN tetramers promote asymmetric divisions of mammary stem cells.
    Submit: New GeneRIF Correction See all GeneRIFs (36)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Chudley-McCullough syndrome
    MedGen: C1858695 OMIM: 604213 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genes linked to energy metabolism and immunoregulatory mechanisms are associated with subcutaneous adipose tissue distribution in HIV-infected men.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables G-protein alpha-subunit binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP-dissociation inhibitor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GDP-dissociation inhibitor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables dynein complex binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein domain specific binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in G protein-coupled receptor signaling pathway TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in establishment of mitotic spindle orientation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in establishment of mitotic spindle orientation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in maintenance of centrosome location IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in neurotransmitter receptor localization to postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of protein localization to cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of spindle assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of mitotic spindle organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with cell cortex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    located_in cell cortex region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in centrosome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in lateral cell cortex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    colocalizes_with mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitotic spindle pole IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of protein-containing complex IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    G-protein-signaling modulator 2
    Names
    G-protein signalling modulator 2 (AGS3-like, C. elegans)
    mosaic protein LGN

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_028108.2 RefSeqGene

      Range
      6636..64196
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1373

    mRNA and Protein(s)

    1. NM_001321038.2 → NP_001307967.1  G-protein-signaling modulator 2

      Status: REVIEWED

      Source sequence(s)
      AB445462, AI224972, AK295563, AL449266, DC365139
      Consensus CDS
      CCDS792.2
      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Related
      ENSP00000501579.1, ENST00000674914.1
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    2. NM_001321039.3 → NP_001307968.1  G-protein-signaling modulator 2

      Status: REVIEWED

      Source sequence(s)
      AB445462, AL449266
      Consensus CDS
      CCDS792.2
      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Related
      ENSP00000496104.1, ENST00000642355.1
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    3. NM_013296.5 → NP_037428.3  G-protein-signaling modulator 2

      See identical proteins and their annotated locations for NP_037428.3

      Status: REVIEWED

      Source sequence(s)
      AI224972, AL449266, BC027732, DC341689
      Consensus CDS
      CCDS792.2
      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Related
      ENSP00000264126.3, ENST00000264126.9
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      108876985..108934545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047418723.1 → XP_047274679.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    2. XM_011541302.4 → XP_011539604.1  G-protein-signaling modulator 2 isoform X1

      See identical proteins and their annotated locations for XP_011539604.1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    3. XM_047418724.1 → XP_047274680.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    4. XM_017001097.3 → XP_016856586.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    5. XM_017001098.3 → XP_016856587.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5
      UniProtKB/TrEMBL
      B2RAL8
      Related
      ENSP00000502178.1, ENST00000676184.1
      Conserved Domains (5) summary
      smart00390
      Location:594 → 616
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      COG0457
      Location:27 → 286
      TPR; Tetratricopeptide (TPR) repeat [General function prediction only]
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat
      pfam02188
      Location:490 → 509
      GoLoco; GoLoco motif

    6. XM_006710589.4 → XP_006710652.1  G-protein-signaling modulator 2 isoform X2

      UniProtKB/TrEMBL
      B2RAL8
      Conserved Domains (7) summary
      smart00028
      Location:45 → 75
      TPR; Tetratricopeptide repeats
      smart00390
      Location:470 → 492
      GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
      sd00006
      Location:224 → 251
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:224 → 255
      TPR_1; Tetratricopeptide repeat
      pfam02188
      Location:610 → 631
      GoLoco; GoLoco motif
      pfam13176
      Location:265 → 299
      TPR_7; Tetratricopeptide repeat
      pfam13424
      Location:224 → 295
      TPR_12; Tetratricopeptide repeat

    7. XM_011541303.4 → XP_011539605.1  G-protein-signaling modulator 2 isoform X3

      UniProtKB/TrEMBL
      A0A6Q8PGS6
      Related
      ENSP00000502401.1, ENST00000674731.1
      Conserved Domains (4) summary
      sd00006
      Location:243 → 270
      TPR; TPR repeat [structural motif]
      pfam00515
      Location:243 → 274
      TPR_1; Tetratricopeptide repeat
      pfam13176
      Location:284 → 318
      TPR_7; Tetratricopeptide repeat
      pfam13424
      Location:243 → 314
      TPR_12; Tetratricopeptide repeat

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      108910322..108967901
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054336185.1 → XP_054192160.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    2. XM_054336186.1 → XP_054192161.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    3. XM_054336188.1 → XP_054192163.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    4. XM_054336184.1 → XP_054192159.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    5. XM_054336187.1 → XP_054192162.1  G-protein-signaling modulator 2 isoform X1

      UniProtKB/Swiss-Prot
      P81274, Q5T1N8, Q6IBL7, Q8N0Z5

    6. XM_054336189.1 → XP_054192164.1  G-protein-signaling modulator 2 isoform X2

    7. XM_054336190.1 → XP_054192165.1  G-protein-signaling modulator 2 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P81274.3 GenPept UniProtKB/Swiss-Prot:P81274

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