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    RASA2 RAS p21 protein activator 2 [ Homo sapiens (human) ]

    Gene ID: 5922, updated on 2-Nov-2024

    Summary

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    Official Symbol
    RASA2provided by HGNC
    Official Full Name
    RAS p21 protein activator 2provided by HGNC
    Primary source
    HGNC:HGNC:9872
    See related
    Ensembl:ENSG00000155903 MIM:601589; AllianceGenome:HGNC:9872
    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
    GAP1M
    Summary
    The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
    Expression
    Ubiquitous expression in lymph node (RPKM 9.4), appendix (RPKM 7.9) and 24 other tissues See more
    Orthologs
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    Genomic context

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    See RASA2 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (141487027..141615344)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (144234722..144362958)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (141205869..141334186)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 38 Neighboring gene uncharacterized LOC124906291 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:141170008-141170180 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:141174421-141175063 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14777 Neighboring gene keratin 18 pseudogene 35 Neighboring gene putative uncharacterized protein MSANTD5 Neighboring gene RASA2 intronic transcript 1 Neighboring gene YWHAQ pseudogene 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:141382574-141383094 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:141383095-141383614 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20633 Neighboring gene leucine rich repeat containing 78, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20634 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20635 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:141456933-141457612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:141457613-141458291 Neighboring gene TPT1 pseudogene 3 Neighboring gene ring finger protein 7

    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 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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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Effect of circRASA2 targeting miR-543/TRAF6 axis on LPS-induced periodontal ligament cell proliferation and osteogenic differentiation].
      Title: [Effect of circRASA2 targeting miR-543/TRAF6 axis on LPS-induced periodontal ligament cell proliferation and osteogenic differentiation].
    2. RASA2 ablation in T cells boosts antigen sensitivity and long-term function.
      Title: RASA2 ablation in T cells boosts antigen sensitivity and long-term function.
    3. Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
      Title: Genome-wide association study in the Taiwan Biobank identifies four novel genes for human height: NABP2, RASA2, RNF41 and SLC39A5.
    4. Authors found that knockdown of RASA2 inhibited MTC cell proliferation.
      Title: Two GEO MicroRNA Expression Profile Based High-Throughput Screen to Identify MicroRNA-31-3p Regulating Growth of Medullary Thyroid Carcinoma Cell by Targeting RASA2.
    5. The SNP of ZBTB38-RASA2 was significantly related with the appearance of myoclonus in sporadic Creutzfeldt-Jacob disease patients.
      Title: The associations of two SNPs in miRNA-146a and one SNP in ZBTB38-RASA2 with the disease susceptibility and the clinical features of the Chinese patients of sCJD and FFI.
    6. Recurrent inactivating RASA2 mutations are associated with melanoma.
      Title: Recurrent inactivating RASA2 mutations in melanoma.
    7. GAP1m is a Ras GAP that switches off Ras signalling. GAP1m undergoes a plasma membrane association following growth factor stimulation of PI 3-kinase as a result of its PH domain binding to phosphatidylinositol 3,4,5-trisphosphate.
      Title: Identification of the ras GTPase-activating protein GAP1(m) as a phosphatidylinositol-3,4,5-trisphosphate-binding protein in vivo.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    EBI GWAS Catalog
    Seventy-five genetic loci influencing the human red blood cell.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in intracellular signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of Ras protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    ras GTPase-activating protein 2
    Names
    GTPase-activating protein 1m
    GTPase-activating protein of RAS

    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.

    Genomic

    1. NG_042187.1 RefSeqGene

      Range
      4981..133298
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303245.3 → NP_001290174.1  ras GTPase-activating protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001290174.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
      Source sequence(s)
      AA214345, AC010184, AF115573, AK025305, AK292016, BM968286, D78155, D82880, DA152165, DA792257
      UniProtKB/Swiss-Prot
      A8K7K1, G3V0F9, O00695, Q15283, Q15284, Q92594, Q99577, Q9UEQ2
      Conserved Domains (7) summary
      smart00107
      Location:708 → 743
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172 → 314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39 → 159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323 → 593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301 → 642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590 → 723
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607 → 706
      PH; PH domain

    2. NM_001303246.3 → NP_001290175.1  ras GTPase-activating protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001290175.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AA214345, AC010184, AF115573, AK025305, BM968286, D78155, D82880, DA152165, DA792257
      UniProtKB/Swiss-Prot
      Q15283
      Conserved Domains (7) summary
      smart00107
      Location:711 → 746
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172 → 314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39 → 159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323 → 593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301 → 642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590 → 726
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607 → 709
      PH; PH domain

    3. NM_006506.5 → NP_006497.2  ras GTPase-activating protein 2 isoform 3

      See identical proteins and their annotated locations for NP_006497.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
      Source sequence(s)
      AA214345, AC010184, AF115573, AK025305, BM968286, D78155, D82880, DA152165, DA792257
      Consensus CDS
      CCDS3117.1
      UniProtKB/Swiss-Prot
      Q15283
      Related
      ENSP00000286364.3, ENST00000286364.9
      Conserved Domains (7) summary
      smart00107
      Location:707 → 742
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172 → 314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39 → 159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323 → 593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301 → 642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590 → 722
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607 → 705
      PH; PH domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      141487027..141615344
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047448652.1 → XP_047304608.1  ras GTPase-activating protein 2 isoform X3

    2. XM_011513059.3 → XP_011511361.1  ras GTPase-activating protein 2 isoform X1

      Conserved Domains (7) summary
      smart00107
      Location:711 → 746
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:175 → 317
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:49 → 162
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      smart00323
      Location:304 → 645
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:593 → 726
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:610 → 709
      PH; PH domain
      cl02569
      Location:326 → 596
      RasGAP; Ras GTPase Activating Domain

    3. XM_024453691.2 → XP_024309459.1  ras GTPase-activating protein 2 isoform X2

      Conserved Domains (5) summary
      smart00107
      Location:650 → 685
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:114 → 256
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd05394
      Location:265 → 535
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      cd13370
      Location:532 → 665
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      cl14603
      Location:1 → 101
      C2; C2 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      144234722..144362958
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347421.1 → XP_054203396.1  ras GTPase-activating protein 2 isoform X3

    2. XM_054347420.1 → XP_054203395.1  ras GTPase-activating protein 2 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15283.3 GenPept UniProtKB/Swiss-Prot:Q15283

    Gene LinkOut

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

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