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    RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 [ Homo sapiens (human) ]

    Gene ID: 55103, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RALGPS2provided by HGNC
    Official Full Name
    Ral GEF with PH domain and SH3 binding motif 2provided by HGNC
    Primary source
    HGNC:HGNC:30279
    See related
    Ensembl:ENSG00000116191 MIM:617819; AllianceGenome:HGNC:30279
    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
    dJ595C2.1
    Summary
    Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 23.5), lymph node (RPKM 18.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RALGPS2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178725244..178921840)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178079963..178276579)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178694379..178890975)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:178650996-178651556 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:178653106-178654305 Neighboring gene microRNA 4424 Neighboring gene tRNA-undetermined (NNN) 7-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:178694153-178694307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:178694729-178695318 Neighboring gene RALGPS2 antisense RNA 1 Neighboring gene PTPN2 pseudogene 1 Neighboring gene uncharacterized LOC124904462 Neighboring gene angiopoietin like 1 Neighboring gene uncharacterized LOC102724754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178908305-178908804 Neighboring gene MPRA-validated peak477 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178915423-178916208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1582 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1584 Neighboring gene Sharpr-MPRA regulatory region 12139 Neighboring gene FAM20B glycosaminoglycan xylosylkinase Neighboring gene ribosomal protein S26 pseudogene 16

    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 growing family of guanine nucleotide exchange factors is responsible for activation of Ras-family GTPases. Quilliam LA, et al. Prog Nucleic Acid Res Mol Biol, 2002. PMID 12102558
    2. RalGPS2 Is Essential for Survival and Cell Cycle Progression of Lung Cancer Cells Independently of Its Established Substrates Ral GTPases. O Santos A, et al. PLoS One, 2016. PMID 27149377, Free PMC Article
    3. Cloning and characterization of a new Ral-GEF expressed in mouse testis. Martegani E, et al. Ann N Y Acad Sci, 2002 Nov. PMID 12485849
    4. RalGPS2 is involved in tunneling nanotubes formation in 5637 bladder cancer cells. D'Aloia A, et al. Exp Cell Res, 2018 Jan 15. PMID 29208460
    5. Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral. Rebhun JF, et al. J Biol Chem, 2000 May 5. PMID 10747847

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. In fact the overexpression of RalGPS2 or of its PH-domain increased markedly the number and the length of nanotubes, while the knock-down of RalGPS2 caused a strong reduction of these structures. Moreover, using a series of RalA mutants impaired in the interaction with different downstream components (Sec5, Exo84, RalBP1) we demonstrated that the interaction of RalA with Sec5 is required for TNTs formation
      Title: RalGPS2 is involved in tunneling nanotubes formation in 5637 bladder cancer cells.
    2. RALGPS2 is implicated in the control of cell cycle progression and survival in the in vitro growth of NSCLC cell lines. This function is largely independent of Ral GTPases and associated with modulation of Skp2, p27 and p21 cell cycle regulators
      Title: RalGPS2 Is Essential for Survival and Cell Cycle Progression of Lung Cancer Cells Independently of Its Established Substrates Ral GTPases.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ10244, FLJ25604, KIAA0351

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Ras protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    ras-specific guanine nucleotide-releasing factor RalGPS2
    Names
    Ral-A exchange factor RalGPS2
    ral GEF with PH domain and SH3-binding motif 2
    ralA exchange factor RalGPS2

    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_001286247.2 → NP_001273176.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 2

      See identical proteins and their annotated locations for NP_001273176.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK301753, AL355520, AL449106, CK902157
      Consensus CDS
      CCDS65733.1
      UniProtKB/Swiss-Prot
      Q86X27
      Related
      ENSP00000356606.2, ENST00000367634.7
      Conserved Domains (3) summary
      smart00147
      Location:45 → 286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:433 → 548
      PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:432 → 542
      PH; PH domain

    2. NM_001400042.1 → NP_001386971.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL162255, AL355520, AL449106

    3. NM_152663.5 → NP_689876.2  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 1

      See identical proteins and their annotated locations for NP_689876.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (10 represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AL355520, AL449106, BC047391, CK902157
      Consensus CDS
      CCDS1325.1
      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
      Related
      ENSP00000356607.3, ENST00000367635.8
      Conserved Domains (2) summary
      smart00147
      Location:45 → 286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:459 → 574
      PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain

    RNA

    1. NR_174383.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL162255, AL355520, AL449106

    2. NR_174384.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL162255, AL355520, AL449106

    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
      178725244..178921840
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047423755.1 → XP_047279711.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78

    2. XM_047423766.1 → XP_047279722.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

    3. XM_006711410.4 → XP_006711473.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

      See identical proteins and their annotated locations for XP_006711473.1

      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
      Conserved Domains (2) summary
      smart00147
      Location:45 → 286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:459 → 574
      PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain

    4. XM_047423777.1 → XP_047279733.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      178079963..178276579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337315.1 → XP_054193290.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

    2. XM_054337314.1 → XP_054193289.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78

    3. XM_054337316.1 → XP_054193291.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_018037.1: Suppressed sequence

      Description
      NM_018037.1: This RefSeq was permanently suppressed because its 3' end is primarily intronic sequence.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86X27.1 GenPept UniProtKB/Swiss-Prot:Q86X27

    Gene LinkOut

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