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    RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 57186, updated on 27-Nov-2024

    Summary

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    Official Symbol
    RALGAPA2provided by HGNC
    Official Full Name
    Ral GTPase activating protein catalytic subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:16207
    See related
    Ensembl:ENSG00000188559 MIM:618836; AllianceGenome:HGNC:16207
    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
    p220; AS250; C20orf74; dJ1049G11; bA287B20.1; dJ1049G11.4
    Summary
    Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See RALGAPA2 in Genome Data Viewer
    Location:
    20p11.23
    Exon count:
    48
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20389530..20712644, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20448061..20771350, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20370174..20693287, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12710 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene Sharpr-MPRA regulatory region 956 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene INSM transcriptional repressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12711 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12712 Neighboring gene Sharpr-MPRA regulatory region 2040 Neighboring gene uncharacterized LOC105372555 Neighboring gene RNA, 7SL, cytoplasmic 607, pseudogene Neighboring gene LLPH pseudogene 1

    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. Ral GTPase Activation by Downregulation of RalGAP Enhances Oral Squamous Cell Carcinoma Progression. Gao P, et al. J Dent Res, 2019 Aug. PMID 31329042
    2. Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer. Saito R, et al. Oncogene, 2013 Feb 14. PMID 22450745
    3. The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer. Fattahi Dolatabadi N, et al. Hum Cell, 2020 Oct. PMID 32880825
    4. Downregulation of RalGTPase-activating protein promotes invasion of prostatic epithelial cells and progression from intraepithelial neoplasia to cancer during prostate carcinogenesis. Uegaki M, et al. Carcinogenesis, 2019 Dec 31. PMID 31058283
    5. Adipocytes contain a novel complex similar to the tuberous sclerosis complex. Gridley S, et al. Cell Signal, 2006 Oct. PMID 16490346

    See all (35) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer.
      Title: The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer.
    2. Low RalGAPalpha2 expression was associated with a reduced survival rate in patients with oral squamous cell carcinoma
      Title: Ral GTPase Activation by Downregulation of RalGAP Enhances Oral Squamous Cell Carcinoma Progression.
    3. loss of RalGAP function has a distinct role in promoting progression from prostatic intraepithelial neoplasia to invasive adenocarcinoma.
      Title: Downregulation of RalGTPase-activating protein promotes invasion of prostatic epithelial cells and progression from intraepithelial neoplasia to cancer during prostate carcinogenesis.
    4. Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer.
      Title: Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer.
    5. The cDNA sequence for human AS250 is reported, and the sites that undergo phosphorylation upon insulin treatment of adipocytes have been identified by tandem mass spectrometry.
      Title: Adipocytes contain a novel complex similar to the tuberous sclerosis complex.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    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)

    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

    Clone Names

    • FLJ12819, KIAA1272

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables GTPase activator activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein heterodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of GTPase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in regulation of small GTPase mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    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 extracellular space HDA PubMed 
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    ral GTPase-activating protein subunit alpha-2
    Names
    250 kDa substrate of Akt
    Ral GTPase activating protein catalytic alpha subunit 2
    Ral GTPase activating protein, alpha subunit 2 (catalytic)
    RapGAPalpha2
    akt substrate AS250
    ral GTPase-activating protein alpha subunit 2

    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_020343.4 → NP_065076.2  ral GTPase-activating protein subunit alpha-2

      See identical proteins and their annotated locations for NP_065076.2

      Status: VALIDATED

      Source sequence(s)
      AL157718, AL161658, AY007097, BC171842, DQ310704
      Consensus CDS
      CCDS46584.1
      UniProtKB/Swiss-Prot
      Q2PPJ7, Q4VXU6, Q5JUA3, Q5JUA4, Q5T9K3, Q96CX9, Q9BQT7, Q9H9D9, Q9ULE8
      UniProtKB/TrEMBL
      H7C1F9
      Related
      ENSP00000202677.6, ENST00000202677.12
      Conserved Domains (1) summary
      pfam02145
      Location:1665 → 1837
      Rap_GAP; Rap/ran-GAP

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      20389530..20712644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011529310.3 → XP_011527612.1  ral GTPase-activating protein subunit alpha-2 isoform X6

      UniProtKB/TrEMBL
      H7C1F9
      Related
      ENSP00000400085.1, ENST00000430436.5
      Conserved Domains (1) summary
      pfam02145
      Location:1550 → 1722
      Rap_GAP; Rap/ran-GAP

    2. XM_005260768.3 → XP_005260825.1  ral GTPase-activating protein subunit alpha-2 isoform X2

      UniProtKB/TrEMBL
      H7C1F9
      Conserved Domains (1) summary
      pfam02145
      Location:1665 → 1837
      Rap_GAP; Rap/ran-GAP

    3. XM_006723598.2 → XP_006723661.1  ral GTPase-activating protein subunit alpha-2 isoform X1

      UniProtKB/TrEMBL
      H7C1F9
      Conserved Domains (1) summary
      pfam02145
      Location:1712 → 1884
      Rap_GAP; Rap/ran-GAP

    4. XM_006723599.2 → XP_006723662.1  ral GTPase-activating protein subunit alpha-2 isoform X3

      UniProtKB/TrEMBL
      H7C1F9
      Conserved Domains (1) summary
      pfam02145
      Location:1712 → 1884
      Rap_GAP; Rap/ran-GAP

    5. XM_047440323.1 → XP_047296279.1  ral GTPase-activating protein subunit alpha-2 isoform X9

    6. XM_047440322.1 → XP_047296278.1  ral GTPase-activating protein subunit alpha-2 isoform X7

    7. XM_011529311.3 → XP_011527613.2  ral GTPase-activating protein subunit alpha-2 isoform X8

    8. XM_047440324.1 → XP_047296280.1  ral GTPase-activating protein subunit alpha-2 isoform X10

    9. XM_047440320.1 → XP_047296276.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    10. XM_047440321.1 → XP_047296277.1  ral GTPase-activating protein subunit alpha-2 isoform X5

    11. XM_011529309.2 → XP_011527611.1  ral GTPase-activating protein subunit alpha-2 isoform X4

      UniProtKB/TrEMBL
      H7C1F9
      Conserved Domains (1) summary
      pfam02145
      Location:1712 → 1869
      Rap_GAP; Rap/ran-GAP

    12. XM_047440319.1 → XP_047296275.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    13. XM_017027977.2 → XP_016883466.1  ral GTPase-activating protein subunit alpha-2 isoform X11

    RNA

    1. XR_007067471.1 RNA Sequence

    2. XR_937111.3 RNA Sequence

    3. XR_007067470.1 RNA Sequence

    4. XR_001754352.2 RNA Sequence

    5. XR_007067472.1 RNA Sequence

    6. XR_007067473.1 RNA Sequence

    7. XR_937112.3 RNA Sequence

    8. XR_937114.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      20448061..20771350 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054323751.1 → XP_054179726.1  ral GTPase-activating protein subunit alpha-2 isoform X6

    2. XM_054323744.1 → XP_054179719.1  ral GTPase-activating protein subunit alpha-2 isoform X2

    3. XM_054323743.1 → XP_054179718.1  ral GTPase-activating protein subunit alpha-2 isoform X1

    4. XM_054323745.1 → XP_054179720.1  ral GTPase-activating protein subunit alpha-2 isoform X3

    5. XM_054323754.1 → XP_054179729.1  ral GTPase-activating protein subunit alpha-2 isoform X9

    6. XM_054323752.1 → XP_054179727.1  ral GTPase-activating protein subunit alpha-2 isoform X7

    7. XM_054323753.1 → XP_054179728.1  ral GTPase-activating protein subunit alpha-2 isoform X8

    8. XM_054323755.1 → XP_054179730.1  ral GTPase-activating protein subunit alpha-2 isoform X10

    9. XM_054323750.1 → XP_054179725.1  ral GTPase-activating protein subunit alpha-2 isoform X5

    10. XM_054323748.1 → XP_054179723.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    11. XM_054323747.1 → XP_054179722.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    12. XM_054323746.1 → XP_054179721.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    13. XM_054323749.1 → XP_054179724.1  ral GTPase-activating protein subunit alpha-2 isoform X12

    14. XM_054323756.1 → XP_054179731.1  ral GTPase-activating protein subunit alpha-2 isoform X11

    RNA

    1. XR_008485283.1 RNA Sequence

    2. XR_008485281.1 RNA Sequence

    3. XR_008485282.1 RNA Sequence

    4. XR_008485280.1 RNA Sequence

    5. XR_008485285.1 RNA Sequence

    6. XR_008485284.1 RNA Sequence

    7. XR_008485286.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q2PPJ7.2 GenPept UniProtKB/Swiss-Prot:Q2PPJ7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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