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

Gene ID: 5922, updated on 5-Mar-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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Location:
3q23
Exon count:
28
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (141487027..141615344)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (144234722..144362958)
105.20220307 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 long intergenic non-protein coding RNA 2618 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20633 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
  • 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. RASA2 ablation in T cells boosts antigen sensitivity and long-term function. Carnevale J, et al. Nature, 2022 Sep. PMID 36002574, Free PMC Article
  2. Recurrent inactivating RASA2 mutations in melanoma. Arafeh R, et al. Nat Genet, 2015 Dec. PMID 26502337, Free PMC Article
  3. Identification of the ras GTPase-activating protein GAP1(m) as a phosphatidylinositol-3,4,5-trisphosphate-binding protein in vivo. Lockyer PJ, et al. Curr Biol, 1999 Mar 11. PMID 10074452
  4. Human rasGTPase-activating protein (human counterpart of GAP1m): sequence of the cDNA, primary structure of the protein, production and chromosomal localization. Kobayashi M, et al. Gene, 1996 Oct 10. PMID 8917095
  5. cDNA cloning and chromosomal mapping of a novel human GAP (GAP1M), a GTPase-activating protein of Ras. Li S, et al. Genomics, 1996 Aug 1. PMID 8812506

See all (27) citations in PubMed

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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Genotypes

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
  
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_2023_10

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

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