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    RGL2 ral guanine nucleotide dissociation stimulator like 2 [ Homo sapiens (human) ]

    Gene ID: 5863, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RGL2provided by HGNC
    Official Full Name
    ral guanine nucleotide dissociation stimulator like 2provided by HGNC
    Primary source
    HGNC:HGNC:9769
    See related
    Ensembl:ENSG00000237441 MIM:602306; AllianceGenome:HGNC:9769
    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
    Also known as
    KE1.5; RAB2L; HKE1.5
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in small GTPase-mediated signal transduction. Predicted to act upstream of or within negative regulation of cardiac muscle cell apoptotic process; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and regulation of Ral protein signal transduction. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen (RPKM 40.1), prostate (RPKM 26.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RGL2 in Genome Data Viewer
    Location:
    6p21.32
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (33291654..33301612, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (33113016..33120834, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (33259431..33266719, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene WD repeat domain 46 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33255009-33255542 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33255543-33256076 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33256611-33257144 Neighboring gene microRNA 6873 Neighboring gene microRNA 6834 Neighboring gene prefoldin subunit 6 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33265070-33265597 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33265684-33266184 Neighboring gene ReSE screen-validated silencer GRCh37_chr6:33266952-33267130 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33267887-33268394 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:33268395-33268900 Neighboring gene TAP binding protein Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33282409-33283068 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:33283069-33283726 Neighboring gene zinc finger and BTB domain containing 22 Neighboring gene uncharacterized LOC124901303 Neighboring gene death domain associated protein

    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. Isolation and mapping of RAB2L, a human cDNA that encodes a protein homologous to RalGDS. Isomura M, et al. Cytogenet Cell Genet, 1996. PMID 8976381
    2. cDNA cloning, northern hybridization, and mapping analysis of a putative GDS-related protein gene at the centromeric ends of the human and mouse MHC regions. Ando A, et al. Immunogenetics, 1999 Apr. PMID 10079301
    3. G-protein binding features and regulation of the RalGDS family member, RGL2. Ferro E, et al. Biochem J, 2008 Oct 1. PMID 18540861
    4. Aberrant overexpression of the Rgl2 Ral small GTPase-specific guanine nucleotide exchange factor promotes pancreatic cancer growth through Ral-dependent and Ral-independent mechanisms. Vigil D, et al. J Biol Chem, 2010 Nov 5. PMID 20801877, Free PMC Article
    5. Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis. Hershkovitz D, et al. J Invest Dermatol, 2011 Mar. PMID 21160498, Free PMC Article

    See all (30) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SAMD9, an IFN-gamma-responsive protein, interacts with RGL2 to diminish the expression of EGR1, a protein of direct relevance to the pathogenesis of ectopic calcification and inflammation.
      Title: Functional characterization of SAMD9, a protein deficient in normophosphatemic familial tumoral calcinosis.
    2. Rgl2 and RalB both localized to the leading edge, and this localization of RalB was dependent on endogenous Rgl2 expression.
      Title: Aberrant overexpression of the Rgl2 Ral small GTPase-specific guanine nucleotide exchange factor promotes pancreatic cancer growth through Ral-dependent and Ral-independent mechanisms.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions.
    4. RGL2 is phosphorylated by PKA and phosphorylation reduces the ability of RGL2 to bind H-Ras. results of the present study indicate that Ras may distinguish between the different RalGDS family members by their phosphorylation by PKA.
      Title: G-protein binding features and regulation of the RalGDS family member, RGL2.
    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)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat downregulates the expression of ral guanine nucleotide dissociation stimulator-like 2 (RGL2) in human primary T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    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 guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of cardiac muscle cell apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of Ral protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    ral guanine nucleotide dissociation stimulator-like 2
    Names
    GDS-related protein
    ralGDS-like 2
    ralGDS-like factor
    ras-associated protein RAB2L

    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_001243738.2 → NP_001230667.1  ral guanine nucleotide dissociation stimulator-like 2 isoform 2

      See identical proteins and their annotated locations for NP_001230667.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an internal exon and uses a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AL050259, BX648015, DA158284
      UniProtKB/TrEMBL
      Q9BSI0
      Related
      ENST00000437840.6
      Conserved Domains (3) summary
      cd00153
      Location:566 → 651
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00147
      Location:157 → 431
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:8 → 130
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

    2. NM_004761.5 → NP_004752.1  ral guanine nucleotide dissociation stimulator-like 2 isoform 1

      See identical proteins and their annotated locations for NP_004752.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL050259, BX648015
      Consensus CDS
      CCDS4774.1
      UniProtKB/Swiss-Prot
      B4DG72, O15211, Q5STK0, Q9Y3F3
      UniProtKB/TrEMBL
      A0A024RCS9, A0A1U9X8E4, A0A1U9X8F0
      Related
      ENSP00000420211.1, ENST00000497454.6
      Conserved Domains (3) summary
      cd00153
      Location:648 → 733
      RalGDS_RA; Ubiquitin domain of RalGDS-like factor (RLF) and related proteins
      smart00147
      Location:239 → 513
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:90 → 212
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal 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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      33291654..33301612 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047419202.1 → XP_047275158.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    2. XM_047419203.1 → XP_047275159.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    3. XM_047419201.1 → XP_047275157.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    4. XM_047419200.1 → XP_047275156.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X5

    5. XM_047419199.1 → XP_047275155.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    6. XM_011514785.4 → XP_011513087.2  ral guanine nucleotide dissociation stimulator-like 2 isoform X6

    7. XM_047419205.1 → XP_047275161.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X8

    8. XM_047419204.1 → XP_047275160.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X7

    RNA

    1. XR_007059286.1 RNA Sequence

    2. XR_007059287.1 RNA Sequence

    Reference GRCh38.p14 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

      Range
      4703139..4710957 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054329839.1 → XP_054185814.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    2. XM_054329840.1 → XP_054185815.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    3. XM_054329837.1 → XP_054185812.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X11

      UniProtKB/Swiss-Prot
      B4DG72, O15211, Q5STK0, Q9Y3F3
      UniProtKB/TrEMBL
      A0A024RCS9

    4. XM_054329841.1 → XP_054185816.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    5. XM_054329836.1 → XP_054185811.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    6. XM_054329838.1 → XP_054185813.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    7. XM_054329842.1 → XP_054185817.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X9

    8. XM_054329843.1 → XP_054185818.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X10

    Reference GRCh38.p14 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

      Range
      4535172..4542990 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330324.1 → XP_054186299.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    2. XM_054330325.1 → XP_054186300.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    3. XM_054330322.1 → XP_054186297.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X11

      UniProtKB/Swiss-Prot
      B4DG72, O15211, Q5STK0, Q9Y3F3
      UniProtKB/TrEMBL
      A0A024RCS9

    4. XM_054330326.1 → XP_054186301.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    5. XM_054330321.1 → XP_054186296.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    6. XM_054330323.1 → XP_054186298.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    7. XM_054330327.1 → XP_054186302.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X12

    8. XM_054330328.1 → XP_054186303.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X13

    Reference GRCh38.p14 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

      Range
      4727590..4735521 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054330841.1 → XP_054186816.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    2. XM_054330840.1 → XP_054186815.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    3. XM_054330842.1 → XP_054186817.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    4. XM_054330838.1 → XP_054186813.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    5. XM_054330839.1 → XP_054186814.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    6. XM_054330843.1 → XP_054186818.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X14

    7. XM_054330844.1 → XP_054186819.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X15

    Reference GRCh38.p14 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

      Range
      4486078..4494006 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054331101.1 → XP_054187076.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    2. XM_054331100.1 → XP_054187075.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    3. XM_054331098.1 → XP_054187073.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X11

      UniProtKB/Swiss-Prot
      B4DG72, O15211, Q5STK0, Q9Y3F3
      UniProtKB/TrEMBL
      A0A024RCS9

    4. XM_054331102.1 → XP_054187077.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    5. XM_054331097.1 → XP_054187072.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    6. XM_054331099.1 → XP_054187074.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    7. XM_054331103.1 → XP_054187078.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X16

    8. XM_054331104.1 → XP_054187079.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X17

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      33113016..33120834 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054356133.1 → XP_054212108.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X3

    2. XM_054356134.1 → XP_054212109.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X4

    3. XM_054356135.1 → XP_054212110.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    4. XM_054356131.1 → XP_054212106.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X1

    5. XM_054356132.1 → XP_054212107.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X2

    6. XM_054356136.1 → XP_054212111.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X18

    7. XM_054356137.1 → XP_054212112.1  ral guanine nucleotide dissociation stimulator-like 2 isoform X19

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15211.1 GenPept UniProtKB/Swiss-Prot:O15211

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