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

Gene ID: 29899, updated on 11-Apr-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
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Genomic context

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Location:
1p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108876985..108934545)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108910322..108967901)
105.20220307 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
  • 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. Truncated isoforms of GPSM2 containing the GoLoco motif region promote CD4(+) T-cell migration in SLE. Esser RL, et al. Lupus Sci Med, 2022 Aug. PMID 35940821, Free PMC Article
  2. GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival. Yang D, et al. Technol Cancer Res Treat, 2020 Jan-Dec. PMID 32812493, Free PMC Article
  3. 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
  4. 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
  5. 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

See all (66) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival.
    Title: GPSM2 Serves as an Independent Prognostic Biomarker for Liver Cancer Survival.
  3. 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.
  4. 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.
  5. LGN has a role in cell cortex recruitment of NuMA
    Title: Intramolecular interaction in LGN, an adaptor protein that regulates mitotic spindle orientation.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. Data support the notion that the Galpha, but not Gbetagamma, arm of the Gi/o signalling is involved in TRPC4 activation and unveil new roles for RGS and LGN in fine-tuning TRPC4 activities.
    Title: Regulator of G-protein signalling and GoLoco proteins suppress TRPC4 channel function via acting at Gαi/o.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
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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)

Genotypes

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 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
is_active_in cell cortex IBA
Inferred from Biological aspect of Ancestor
more info
  
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 
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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NEW Try the new Transcript table

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_2023_10

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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