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

    Gene ID: 5922, updated on 8-Jul-2021

    Summary

    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
    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
    NEW
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    Genomic context

    See RASA2 in Genome Data Viewer
    Location:
    3q23
    Exon count:
    30
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (141487027..141615344)
    105.20201022 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 keratin 18 pseudogene 35 Neighboring gene YWHAQ pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 2618 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 3 Neighboring gene ring finger protein 7

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
    GeneReviews: Not available
    Seventy-five genetic loci influencing the human red blood cell.
    GeneReviews: Not available

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    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
     
    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 regulation of GTPase activity 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

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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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..133310
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001303245.3NP_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
      Q15283
      Conserved Domains (7) summary
      smart00107
      Location:708743
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590723
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607706
      PH; PH domain
    2. NM_001303246.3NP_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:711746
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590726
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607709
      PH; PH domain
    3. NM_006506.5NP_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:707742
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:172314
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:39159
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      cd05394
      Location:323593
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      smart00323
      Location:301642
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:590722
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:607705
      PH; PH domain

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_017006971.1XP_016862460.1  ras GTPase-activating protein 2 isoform X6

    2. XM_017006970.1XP_016862459.1  ras GTPase-activating protein 2 isoform X5

    3. XM_017006968.1XP_016862457.1  ras GTPase-activating protein 2 isoform X1

    4. XM_017006969.1XP_016862458.1  ras GTPase-activating protein 2 isoform X2

    5. XM_011513059.2XP_011511361.1  ras GTPase-activating protein 2 isoform X3

      Conserved Domains (7) summary
      smart00107
      Location:711746
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:175317
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd08401
      Location:49162
      C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
      smart00323
      Location:304645
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13370
      Location:593726
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      pfam00169
      Location:610709
      PH; PH domain
      cl02569
      Location:326596
      RasGAP; Ras GTPase Activating Domain
    6. XM_024453691.1XP_024309459.1  ras GTPase-activating protein 2 isoform X4

      Conserved Domains (5) summary
      smart00107
      Location:650685
      BTK; Bruton's tyrosine kinase Cys-rich motif
      cd04010
      Location:114256
      C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
      cd05394
      Location:265535
      RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
      cd13370
      Location:532665
      PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
      cl14603
      Location:1101
      C2; C2 domain
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