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    RASAL2 RAS protein activator like 2 [ Homo sapiens (human) ]

    Gene ID: 9462, updated on 3-Apr-2024

    Summary

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    Official Symbol
    RASAL2provided by HGNC
    Official Full Name
    RAS protein activator like 2provided by HGNC
    Primary source
    HGNC:HGNC:9874
    See related
    Ensembl:ENSG00000075391 MIM:606136; AllianceGenome:HGNC:9874
    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
    NGAP
    Summary
    This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in esophagus (RPKM 4.0), fat (RPKM 3.6) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q25.2
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178094104..178478850)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (177448790..177833573)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178063239..178447985)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904459 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:178062715-178063216 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1576 Neighboring gene RASAL2 antisense RNA 1 Neighboring gene uncharacterized LOC105371630 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:178253081-178253888 Neighboring gene Sharpr-MPRA regulatory region 3505 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:178289668-178290263 Neighboring gene uncharacterized LOC105371629 Neighboring gene NANOG hESC enhancer GRCh37_chr1:178313926-178314494 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:178386599-178387798 Neighboring gene ribosomal protein S14 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:178452792-178452968 Neighboring gene MPRA-validated peak476 silencer Neighboring gene uncharacterized LOC101928866 Neighboring gene negCOR silencer S4 Neighboring gene C-type lectin domain containing 20A Neighboring gene testis expressed 35

    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. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer. Wills C, et al. Genes Chromosomes Cancer, 2023 Jun. PMID 36790221, Free PMC Article
    2. RASAL2 mediated the enhancement of YAP1/TIAM1 signaling promotes malignant phenotypes of pancreatic ductal adenocarcinoma. Yue Y, et al. Int J Biol Sci, 2022. PMID 35844783, Free PMC Article
    3. Low Expression of Rasal2 Promotes Non-small Cell Lung Cancer Metastasis through Ras/ERK Pathway. Fan D, et al. Biol Pharm Bull, 2021. PMID 34193694
    4. PRKAA/AMPKα phosphorylation switches the role of RASAL2 from a suppressor to an activator of autophagy. Bao Y, et al. Autophagy, 2021 Nov. PMID 33563064, Free PMC Article
    5. Phosphorylated Rasal2 facilitates breast cancer progression. Wang X, et al. EBioMedicine, 2019 Dec. PMID 31759919, Free PMC Article

    See all (77) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
      Title: CAMSAP2 enhances lung cancer cell metastasis by mediating RASAL2 degradation.
    2. Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer.
      Title: Germline variation in RASAL2 may predict survival in patients with RAS-activated colorectal cancer.
    3. RASAL2 mediated the enhancement of YAP1/TIAM1 signaling promotes malignant phenotypes of pancreatic ductal adenocarcinoma.
      Title: RASAL2 mediated the enhancement of YAP1/TIAM1 signaling promotes malignant phenotypes of pancreatic ductal adenocarcinoma.
    4. PRKAA/AMPKalpha phosphorylation switches the role of RASAL2 from a suppressor to an activator of autophagy.
      Title: PRKAA/AMPKα phosphorylation switches the role of RASAL2 from a suppressor to an activator of autophagy.
    5. Inhibition of Ras protein activator like 2 produces antitumor effects in gastric cancer via the suppression of YAP1 activation.
      Title: Inhibition of Ras protein activator like 2 produces antitumor effects in gastric cancer via the suppression of YAP1 activation.
    6. Low Expression of Rasal2 Promotes Non-small Cell Lung Cancer Metastasis through Ras/ERK Pathway.
      Title: Low Expression of Rasal2 Promotes Non-small Cell Lung Cancer Metastasis through Ras/ERK Pathway.
    7. miR6543p suppresses cell viability and promotes apoptosis by targeting RASAL2 in nonsmallcell lung cancer.
      Title: miR‑654‑3p suppresses cell viability and promotes apoptosis by targeting RASAL2 in non‑small‑cell lung cancer.
    8. the phosphorylation of Rasal2 at S237 in PH domain facilitates tumour progression.
      Title: Phosphorylated Rasal2 facilitates breast cancer progression.
    9. These findings revealed a new mechanism of Rasal2 in the regulation of breast cancer cell proliferation via autophagy-exosome-mediated pathway.
      Title: Rasal2 suppresses breast cancer cell proliferation modulated by secretory autophagy.
    10. IPO5 is an oncogene involved in CRC cell proliferation and migration. This highlights the significance of IPO5 in 5-fluorouracil-resistant CRC cells. The oncogenic function of IPO5 was mediated by promoting RAS signalling by increasing the nuclear translocation of RASAL2
      Title: IPO5 promotes the proliferation and tumourigenicity of colorectal cancer cells by mediating RASAL2 nuclear transportation.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    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 of antibody response to smallpox vaccine.
    EBI GWAS Catalog
    Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Clone Names

    • MGC129919

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in adipose tissue development IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organism growth IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of protein activation cascade IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to dietary excess IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to glucose 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
    		  

    General protein information

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    Preferred Names
    ras GTPase-activating protein nGAP
    Names
    RASAL2/ACVR1 fusion
    Ras protein activator like 1

    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_047109.1 RefSeqGene

      Range
      5001..390786
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004841.5 → NP_004832.1  ras GTPase-activating protein nGAP isoform 1

      See identical proteins and their annotated locations for NP_004832.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter isoform (1).
      Source sequence(s)
      AF047711, AK290308, AL035702, AL365357
      Consensus CDS
      CCDS1322.1
      UniProtKB/Swiss-Prot
      F8W755, O95174, Q2TB22, Q5TFU9, Q9UJF2
      UniProtKB/TrEMBL
      A8K2P3
      Related
      ENSP00000420558.1, ENST00000462775.5
      Conserved Domains (6) summary
      cd04013
      Location:159 → 298
      C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
      cd05136
      Location:289 → 619
      RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
      smart00323
      Location:282 → 620
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam12004
      Location:609 → 1101
      DUF3498; Domain of unknown function (DUF3498)
      cl02488
      Location:963 → 1111
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl17171
      Location:34 → 217
      PH-like; Pleckstrin homology-like domain

    2. NM_170692.4 → NP_733793.2  ras GTPase-activating protein nGAP isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region, and uses an alternate in-frame splice site in the central coding region, compared to variant 1. The resulting isoform (2) has a distinct N-terminus and is longer than isoform 1.
      Source sequence(s)
      AK311017, AL035702, AL160281, BC110611
      Consensus CDS
      CCDS1321.2
      UniProtKB/Swiss-Prot
      Q9UJF2
      Related
      ENSP00000356621.3, ENST00000367649.8
      Conserved Domains (4) summary
      cd04013
      Location:307 → 446
      C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
      cd05136
      Location:437 → 760
      RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
      pfam12004
      Location:750 → 1251
      DUF3498; Domain of unknown function (DUF3498)
      cl17171
      Location:182 → 365
      PH-like; Pleckstrin homology-like 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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      178094104..178478850
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011510166.3 → XP_011508468.1  ras GTPase-activating protein nGAP isoform X5

      Conserved Domains (6) summary
      cd04013
      Location:307 → 446
      C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
      cd05136
      Location:437 → 767
      RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
      smart00323
      Location:430 → 768
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13373
      Location:184 → 321
      PH_nGAP; Neuronal growth-associated proteins Pleckstrin homology (PH) domain
      pfam12004
      Location:757 → 1233
      DUF3498; Domain of unknown function (DUF3498)
      cl02488
      Location:1111 → 1250
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    2. XM_011510167.3 → XP_011508469.1  ras GTPase-activating protein nGAP isoform X6

      See identical proteins and their annotated locations for XP_011508469.1

      Conserved Domains (6) summary
      cd04013
      Location:307 → 446
      C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
      cd05136
      Location:437 → 767
      RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
      smart00323
      Location:430 → 768
      RasGAP; GTPase-activator protein for Ras-like GTPases
      pfam12004
      Location:757 → 1249
      DUF3498; Domain of unknown function (DUF3498)
      cl02488
      Location:1111 → 1259
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
      cl17171
      Location:182 → 365
      PH-like; Pleckstrin homology-like domain

    3. XM_047434837.1 → XP_047290793.1  ras GTPase-activating protein nGAP isoform X7

    4. XM_017002849.2 → XP_016858338.1  ras GTPase-activating protein nGAP isoform X1

    5. XM_017002850.2 → XP_016858339.1  ras GTPase-activating protein nGAP isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SIU1
      Related
      ENSP00000512749.1, ENST00000696605.1

    6. XM_017002851.2 → XP_016858340.1  ras GTPase-activating protein nGAP isoform X3

    7. XM_017002852.2 → XP_016858341.1  ras GTPase-activating protein nGAP isoform X4

    8. XM_017002853.2 → XP_016858342.1  ras GTPase-activating protein nGAP isoform X8

    9. XM_005245622.5 → XP_005245679.1  ras GTPase-activating protein nGAP isoform X13

      UniProtKB/TrEMBL
      A8K2P3
      Conserved Domains (6) summary
      cd04013
      Location:159 → 298
      C2_SynGAP_like; C2 domain present in Ras GTPase activating protein (GAP) family
      cd05136
      Location:289 → 619
      RasGAP_DAB2IP; Ras-GTPase Activating Domain of DAB2IP and similar proteins
      smart00323
      Location:282 → 620
      RasGAP; GTPase-activator protein for Ras-like GTPases
      cd13373
      Location:36 → 173
      PH_nGAP; Neuronal growth-associated proteins Pleckstrin homology (PH) domain
      pfam12004
      Location:609 → 1085
      DUF3498; Domain of unknown function (DUF3498)
      cl02488
      Location:963 → 1102
      SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...

    10. XM_047434859.1 → XP_047290815.1  ras GTPase-activating protein nGAP isoform X16

    11. XM_047434860.1 → XP_047290816.1  ras GTPase-activating protein nGAP isoform X17

    12. XM_047434839.1 → XP_047290795.1  ras GTPase-activating protein nGAP isoform X10

    13. XM_047434838.1 → XP_047290794.1  ras GTPase-activating protein nGAP isoform X9

    14. XM_017002854.2 → XP_016858343.1  ras GTPase-activating protein nGAP isoform X11

      UniProtKB/TrEMBL
      A8K2P3

    15. XM_047434849.1 → XP_047290805.1  ras GTPase-activating protein nGAP isoform X12

    16. XM_017002855.2 → XP_016858344.1  ras GTPase-activating protein nGAP isoform X14

      UniProtKB/TrEMBL
      A0A8Q3SJF6, A8K2P3
      Related
      ENSP00000512751.1, ENST00000696607.1

    17. XM_047434857.1 → XP_047290813.1  ras GTPase-activating protein nGAP isoform X15

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      177448790..177833573
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054339690.1 → XP_054195665.1  ras GTPase-activating protein nGAP isoform X5

    2. XM_054339691.1 → XP_054195666.1  ras GTPase-activating protein nGAP isoform X6

    3. XM_054339692.1 → XP_054195667.1  ras GTPase-activating protein nGAP isoform X7

    4. XM_054339686.1 → XP_054195661.1  ras GTPase-activating protein nGAP isoform X1

    5. XM_054339687.1 → XP_054195662.1  ras GTPase-activating protein nGAP isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SIU1

    6. XM_054339688.1 → XP_054195663.1  ras GTPase-activating protein nGAP isoform X3

    7. XM_054339689.1 → XP_054195664.1  ras GTPase-activating protein nGAP isoform X4

    8. XM_054339693.1 → XP_054195668.1  ras GTPase-activating protein nGAP isoform X8

    9. XM_054339698.1 → XP_054195673.1  ras GTPase-activating protein nGAP isoform X13

    10. XM_054339701.1 → XP_054195676.1  ras GTPase-activating protein nGAP isoform X16

    11. XM_054339702.1 → XP_054195677.1  ras GTPase-activating protein nGAP isoform X17

    12. XM_054339695.1 → XP_054195670.1  ras GTPase-activating protein nGAP isoform X10

    13. XM_054339694.1 → XP_054195669.1  ras GTPase-activating protein nGAP isoform X9

    14. XM_054339696.1 → XP_054195671.1  ras GTPase-activating protein nGAP isoform X11

    15. XM_054339699.1 → XP_054195674.1  ras GTPase-activating protein nGAP isoform X14

      UniProtKB/TrEMBL
      A0A8Q3SJF6

    16. XM_054339697.1 → XP_054195672.1  ras GTPase-activating protein nGAP isoform X12

    17. XM_054339700.1 → XP_054195675.1  ras GTPase-activating protein nGAP isoform X15

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UJF2.2 GenPept UniProtKB/Swiss-Prot:Q9UJF2

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