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    REM2 RRAD and GEM like GTPase 2 [ Homo sapiens (human) ]

    Gene ID: 161253, updated on 3-Apr-2024

    Summary

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    Official Symbol
    REM2provided by HGNC
    Official Full Name
    RRAD and GEM like GTPase 2provided by HGNC
    Primary source
    HGNC:HGNC:20248
    See related
    Ensembl:ENSG00000139890 MIM:616955; AllianceGenome:HGNC:20248
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Predicted to enable GTP binding activity and calcium channel regulator activity. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in bone marrow (RPKM 2.3), spleen (RPKM 0.7) and 14 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    14q11.2
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (22883222..22887678)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17081280..17085738)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23352431..23356887)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312200-23312700 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23312701-23313201 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23314693-23315218 Neighboring gene matrix metallopeptidase 14 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23315743-23316266 Neighboring gene Sharpr-MPRA regulatory region 964 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8145 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8146 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8147 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8148 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5592 Neighboring gene LDL receptor related protein 10 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352144-23352682 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23352683-23353220 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8149 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr14:23368929-23369666 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8150 Neighboring gene RNA binding motif protein 23 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23386410-23387174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8151 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5595 Neighboring gene PRMT5 antisense RNA 1 Neighboring gene protein arginine methyltransferase 5

    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. A loss-of-function analysis reveals that endogenous Rem2 promotes functional glutamatergic synapse formation and restricts dendritic complexity. Moore AR, et al. PLoS One, 2013. PMID 23991227, Free PMC Article
    2. Regulation of L-type Ca2+ channel activity and insulin secretion by the Rem2 GTPase. Finlin BS, et al. J Biol Chem, 2005 Dec 23. PMID 15728182
    3. The Ras-like GTPase Rem2 is a potent inhibitor of calcium/calmodulin-dependent kinase II activity. Royer L, et al. J Biol Chem, 2018 Sep 21. PMID 30072381, Free PMC Article
    4. Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity. Chai S, et al. J Clin Invest, 2018 Mar 1. PMID 29431731, Free PMC Article
    5. Rem2-targeted shRNAs reduce frequency of miniature excitatory postsynaptic currents without altering voltage-gated Ca²⁺ currents. Wang HG, et al. PLoS One, 2011. PMID 21980534, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 2 novel gene variants in REM2 and KCNK17 that provide a physiologically plausible explanation for variable expressivity in a large subset of patients in a multigenerational long QT syndrome type 2 family
      Title: Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.
    2. report that substitution of two key amino acid residues in the Rem2 N terminus (Arg-79 and Arg-80) completely abolishes its ability to inhibit CaMKII
      Title: The Ras-like GTPase Rem2 is a potent inhibitor of calcium/calmodulin-dependent kinase II activity.
    3. conclude that endogenous Rem2 is a positive regulator of functional, excitatory synapse development and a negative regulator of dendritic complexity
      Title: A loss-of-function analysis reveals that endogenous Rem2 promotes functional glutamatergic synapse formation and restricts dendritic complexity.
    4. Rem2 has a role in neuronal plasticity hrough co-trafficking with CaMKIIa
      Title: Activity-dependent subcellular cotrafficking of the small GTPase Rem2 and Ca2+/CaM-dependent protein kinase IIα.
    5. molecular mechanisms by which Rem2 knockdown affected synaptogenesis and Ca(2) homeostasis in cultured rat hippocampal neurons
      Title: Rem2-targeted shRNAs reduce frequency of miniature excitatory postsynaptic currents without altering voltage-gated Ca²⁺ currents.
    6. our results suggest that Rem2 regulates dendritic branching and synapse development
      Title: The GTPase Rem2 regulates synapse development and dendritic morphology.
    7. Rem2 mediates the fibroblastic growth factor 2 (FGF2) signaling pathway to maintain proliferation of hESCsby suppressing the transcriptional activity of p53 and cyclin D(1)
      Title: Rem2 GTPase maintains survival of human embryonic stem cells as well as enhancing reprogramming by regulating p53 and cyclin D1.
    8. data unravel a possible molecular mechanism for Rem2-induced angiogenesis and suggests Rem2 as a potential novel target for treating pathological angiogenesis
      Title: An endothelial cell genetic screen identifies the GTPase Rem2 as a suppressor of p19ARF expression that promotes endothelial cell proliferation and angiogenesis.
    9. inhibition of L-type Ca2+ channels by Rem2 signaling may represent a new and potentially important mechanism for regulating Ca2+-triggered exocytosis in hormone-secreting cells, including insulin secretion in pancreatic beta-cells
      Title: Regulation of L-type Ca2+ channel activity and insulin secretion by the Rem2 GTPase.
    Submit: New GeneRIF Correction

    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

    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

    Clone Names

    • FLJ38964

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTP binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium channel regulator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    GTP-binding protein REM 2
    Names
    RAS (RAD and GEM)-like GTP binding 2
    RAS-like GTP binding 2
    Rad and Gem-related 2 (rat homolog)
    rad and Gem-like GTP-binding protein 2
    NP_775798.2
    XP_005267440.1
    XP_011534820.1
    XP_016876547.1
    XP_016876548.1
    XP_047287001.1
    XP_047287002.1
    XP_047287003.1
    XP_054231472.1
    XP_054231473.1
    XP_054231474.1
    XP_054231475.1
    XP_054231476.1
    XP_054231477.1
    XP_054231478.1

    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.

    mRNA and Protein(s)

    1. NM_173527.3 → NP_775798.2  GTP-binding protein REM 2

      See identical proteins and their annotated locations for NP_775798.2

      Status: VALIDATED

      Source sequence(s)
      AK096283, AL135998, BC035663
      Consensus CDS
      CCDS45082.1
      UniProtKB/Swiss-Prot
      B7Z5P1, Q8IYK8, Q8N8R8
      UniProtKB/TrEMBL
      A0A0S2Z647
      Related
      ENSP00000267396.4, ENST00000267396.9
      Conserved Domains (2) summary
      cd04148
      Location:115 → 340
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
      smart00173
      Location:115 → 278
      RAS; Ras subfamily of RAS small GTPases

    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_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      22883222..22887678
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005267383.4 → XP_005267440.1  GTP-binding protein REM 2 isoform X5

      UniProtKB/TrEMBL
      A0A0S2Z647
      Conserved Domains (2) summary
      cd04148
      Location:115 → 341
      RGK; Rem, Rem2, Rad, Gem/Kir (RGK) subfamily of Ras GTPases
      smart00173
      Location:115 → 279
      RAS; Ras subfamily of RAS small GTPases

    2. XM_047431045.1 → XP_047287001.1  GTP-binding protein REM 2 isoform X3

    3. XM_017021058.2 → XP_016876547.1  GTP-binding protein REM 2 isoform X1

      UniProtKB/TrEMBL
      A0A0S2Z647

    4. XM_011536518.3 → XP_011534820.1  GTP-binding protein REM 2 isoform X6

      Conserved Domains (1) summary
      cl21455
      Location:147 → 271
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    5. XM_017021059.2 → XP_016876548.1  GTP-binding protein REM 2 isoform X2

      UniProtKB/TrEMBL
      A0A0S2Z647

    6. XM_047431047.1 → XP_047287003.1  GTP-binding protein REM 2 isoform X7

    7. XM_047431046.1 → XP_047287002.1  GTP-binding protein REM 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17081280..17085738
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054375501.1 → XP_054231476.1  GTP-binding protein REM 2 isoform X5

    2. XM_054375499.1 → XP_054231474.1  GTP-binding protein REM 2 isoform X3

    3. XM_054375497.1 → XP_054231472.1  GTP-binding protein REM 2 isoform X1

    4. XM_054375502.1 → XP_054231477.1  GTP-binding protein REM 2 isoform X6

    5. XM_054375498.1 → XP_054231473.1  GTP-binding protein REM 2 isoform X2

    6. XM_054375503.1 → XP_054231478.1  GTP-binding protein REM 2 isoform X7

    7. XM_054375500.1 → XP_054231475.1  GTP-binding protein REM 2 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IYK8.2 GenPept UniProtKB/Swiss-Prot:Q8IYK8

    Gene LinkOut

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