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

Gene ID: 29899, updated on 2-Mar-2019

Summary

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
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

Genomic context

See GPSM2 in Genome Data Viewer
Location:
1p13.3
Exon count:
19
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 1 NC_000001.11 (108875350..108934335)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109417972..109473044)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene AKNA domain containing 1 Neighboring gene uncharacterized LOC107985159 Neighboring gene spermatogenesis associated 42 Neighboring gene chloride channel CLIC like 1 Neighboring gene NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 3 pseudogene Neighboring gene WD repeat domain 47 Neighboring gene ribosomal protein L17 pseudogene 7

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
G-protein alpha-subunit binding IEA
Inferred from Electronic Annotation
more info
 
GDP-dissociation inhibitor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
dynein complex binding IDA
Inferred from Direct Assay
more info
PubMed 
identical protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein self-association IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
Ran protein signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell division IEA
Inferred from Electronic Annotation
more info
 
establishment of mitotic spindle orientation IMP
Inferred from Mutant Phenotype
more info
PubMed 
maintenance of centrosome location IMP
Inferred from Mutant Phenotype
more info
PubMed 
mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of protein localization to cell cortex IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of spindle assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of catalytic activity IEA
Inferred from Electronic Annotation
more info
 
regulation of mitotic spindle organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with cell cortex IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell cortex region IDA
Inferred from Direct Assay
more info
PubMed 
centrosome IDA
Inferred from Direct Assay
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
lateral cell cortex IDA
Inferred from Direct Assay
more info
PubMed 
lateral plasma membrane IEA
Inferred from Electronic Annotation
more info
 
mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
colocalizes_with mitotic spindle pole IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IDA
Inferred from Direct Assay
more info
PubMed 
protein-containing complex IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AB445462, AI224972, AK295563, DC365139
    Consensus CDS
    CCDS792.2
    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8, B4DIF1
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  2. NM_001321039.1NP_001307968.1  G-protein-signaling modulator 2

    Status: REVIEWED

    Source sequence(s)
    AB445462, AL449266
    Consensus CDS
    CCDS792.2
    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8
    Related
    ENSP00000496104.1, ENST00000642355.1
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  3. NM_013296.5NP_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
    UniProtKB/TrEMBL
    A0A024R0F8
    Related
    ENSP00000264126.3, ENST00000264126.8
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p12 Primary Assembly

    Range
    108875350..108934335
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011541301.2XP_011539603.1  G-protein-signaling modulator 2 isoform X1

    See identical proteins and their annotated locations for XP_011539603.1

    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8
    Related
    ENSP00000385510.1, ENST00000406462.6
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  2. XM_011541302.3XP_011539604.1  G-protein-signaling modulator 2 isoform X1

    See identical proteins and their annotated locations for XP_011539604.1

    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  3. XM_017001097.2XP_016856586.1  G-protein-signaling modulator 2 isoform X1

    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  4. XM_017001098.2XP_016856587.1  G-protein-signaling modulator 2 isoform X1

    UniProtKB/Swiss-Prot
    P81274
    UniProtKB/TrEMBL
    A0A024R0F8
    Conserved Domains (6) summary
    smart00390
    Location:489511
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:629650
    GoLoco; GoLoco motif
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
  5. XM_006710589.3XP_006710652.1  G-protein-signaling modulator 2 isoform X2

    Conserved Domains (7) summary
    smart00028
    Location:4575
    TPR; Tetratricopeptide repeats
    smart00390
    Location:470492
    GoLoco; LGN motif, putative GEFs specific for G-alpha GTPases
    sd00006
    Location:224251
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:224255
    TPR_1; Tetratricopeptide repeat
    pfam02188
    Location:610631
    GoLoco; GoLoco motif
    pfam13176
    Location:265299
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:224295
    TPR_12; Tetratricopeptide repeat
  6. XM_011541303.3XP_011539605.1  G-protein-signaling modulator 2 isoform X3

    Conserved Domains (4) summary
    sd00006
    Location:243270
    TPR; TPR repeat [structural motif]
    pfam00515
    Location:243274
    TPR_1; Tetratricopeptide repeat
    pfam13176
    Location:284318
    TPR_7; Tetratricopeptide repeat
    pfam13424
    Location:243314
    TPR_12; Tetratricopeptide repeat
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