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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
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Genomic context

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See RASAL2 in Genome Data Viewer
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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