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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RASAL2 Gene

protein-coding   GIFtS: 55
GCID: GC01P178063

RAS Protein Activator Like 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
RAS Protein Activator Like 21 2
Ras Protein Activator Like 11 2
NGAP2 3
RAS Protein Activator-Like 22 3
Ras GTPase Activating Protein-Like1
Ras GTPase-Activating Protein NGAP2

External Ids:    HGNC: 98741   Entrez Gene: 94622   Ensembl: ENSG000000753917   OMIM: 6061365   UniProtKB: Q9UJF23   

Export aliases for RASAL2 gene to outside databases

Previous GC identifers: GC01P175834 GC01P173491 GC01P174643 GC01P175303 GC01P174795 GC01P176329 GC01P149291


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for RASAL2 Gene:
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)

GeneCards Summary for RASAL2 Gene: 
RASAL2 (RAS protein activator like 2) is a protein-coding gene. Diseases associated with RASAL2 include astrocytoma, and obesity. GO annotations related to this gene include phospholipid binding and Ras GTPase activator activity. An important paralog of this gene is SYNGAP1.

UniProtKB/Swiss-Prot: NGAP_HUMAN, Q9UJF2
Function: Inhibitory regulator of the Ras-cyclic AMP pathway

Gene Wiki entry for RASAL2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the RASAL2 gene promoter:
         Nkx2-2   p300   NRSF form 1   NRSF form 2   HNF-1A   E47   HFH-1   Zic1   Sox9   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRASAL2 promoter sequence
   Search SABiosciences Chromatin IP Primers for RASAL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RASAL2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q25.2   HGNC cytogenetic band: 1q25

RASAL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RASAL2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P178063:  view genomic region     (about GC identifiers)

Start:
178,062,864 bp from pter      End:
178,448,649 bp from pter
Size:
385,786 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NGAP_HUMAN, Q9UJF2 (See protein sequence)
Recommended Name: Ras GTPase-activating protein nGAP  
Size: 1139 amino acids; 128558 Da
Sequence caution: Sequence=AAI10612.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: F8W755 O95174 Q2TB22 Q5TFU9
Alternative splicing: 2 isoforms:  Q9UJF2-1   Q9UJF2-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for RASAL2: NX_Q9UJF2

Explore proteomics data for RASAL2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UJF2

  • RASAL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RASAL2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_004832.1  NP_733793.2  

    ENSEMBL proteins: 
     ENSP00000356621   ENSP00000420558   ENSP00000402897   ENSP00000407768  

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    Cloud-Clone Corp. Proteins for RASAL2 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005737cytoplasm IBA--
    GO:0031235intrinsic to internal side of plasma membrane IBA--

    RASAL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    5/7 InterPro protein domains (see all 7):
     IPR001936 RasGAP
     IPR008936 Rho_GTPase_activation_prot
     IPR001849 Pleckstrin_homology
     IPR023152 RasGAP_CS
     IPR021887 DUF3498

    Graphical View of Domain Structure for InterPro Entry Q9UJF2

    ProtoNet protein and cluster: Q9UJF2

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB001849 Pleckstrin-like
    IPB001936 Ras GTPase-activating protein


    UniProtKB/Swiss-Prot: NGAP_HUMAN, Q9UJF2
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 Ras-GAP domain


    RASAL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NGAP_HUMAN, Q9UJF2
    Function: Inhibitory regulator of the Ras-cyclic AMP pathway

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005096GTPase activator activity ----
    GO:0005099Ras GTPase activator activity IBA--
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    RASAL2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for RASAL2:
     Lamellipodia cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for RASAL2 
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    8/119 QIAGEN miScript miRNA Assays for microRNAs that regulate RASAL2 (see all 119):
    hsa-miR-323-3p hsa-miR-520f hsa-miR-3607-3p hsa-miR-4254 hsa-miR-30d hsa-miR-371-5p hsa-miR-342-3p hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidRASAL2 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RASAL2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway


    1 BioSystems Pathway for RASAL2
        TNF-alpha/NF-kB Signaling Pathway


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for RASAL2

    4 Interacting proteins for RASAL2 (Q9UJF22, 3) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAGP619812, 3MINT-50873 I2D: score=3 
    NFKBIBQ156532, 3MINT-47863 I2D: score=2 
    MCCP235083I2D: score=1 
    --Q9WMX22MINT-7050824 MINT-7049543
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007165signal transduction IEA--
    GO:0032320positive regulation of Ras GTPase activity IBA--
    GO:0042325regulation of phosphorylation ----
    GO:0046580negative regulation of Ras protein signal transduction IBA--
    GO:0051056regulation of small GTPase mediated signal transduction ----

    RASAL2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for RASAL2 (NGAP)

    Search CenterWatch for drugs/clinical trials and news about RASAL2 / NGAP

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for RASAL2 gene (2 alternative transcripts): 
    NM_004841.3  NM_170692.2  

    Unigene Cluster for RASAL2:

    RAS protein activator like 2
    Hs.496139  [show with all ESTs]
    Unigene Representative Sequence: NM_170692
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367649 ENST00000465723 ENST00000462775 ENST00000433130 ENST00000463079
    ENST00000448150(uc009wxb.2 uc001glq.3 uc001glr.3 uc009wxc.3)

    miRNA
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    8/119 QIAGEN miScript miRNA Assays for microRNAs that regulate RASAL2 (see all 119):
    hsa-miR-323-3p hsa-miR-520f hsa-miR-3607-3p hsa-miR-4254 hsa-miR-30d hsa-miR-371-5p hsa-miR-342-3p hsa-miR-3916
    SwitchGear 3'UTR luciferase reporter plasmidRASAL2 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RASAL2

    Additional mRNA sequence: 

    AB209789.1 AF047711.1 AK022662.1 AK075169.1 AK290308.1 AK311017.1 BC030292.1 BC063442.1 
    BC078167.1 BC110611.2 

    14 DOTS entries:

    DT.113098  DT.97813719  DT.111525  DT.121379497  DT.40299243  DT.40192156  DT.101966292  DT.405958 
    DT.97827245  DT.95181045  DT.92421965  DT.95158925  DT.99988305  DT.91908428 

    1 AceView cDNA sequence:

    AB007970 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RASAL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGTGCAATA
    RASAL2 Expression
    About this image


    See RASAL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RASAL2

    SOURCE GeneReport for Unigene cluster: Hs.496139
        SABiosciences Custom PCR Arrays for RASAL2
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for RASAL2 gene from 8/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rasal21 , 5 RAS protein activator like 21, 5 92.78(n)1
    97.11(a)1
      1 (67.97 cM)5
    2265251  NM_177644.51  NP_808312.31 
     1571405345 
    chicken
    (Gallus gallus)
    Aves RASAL21 RAS protein activator like 2 81.81(n)
    91.36(a)
      429069  XM_426625.3  XP_426625.3 
    lizard
    (Anolis carolinensis)
    Reptilia RASAL26
    RAS protein activator like 2
    82(a)
    1 ↔ 1
    GL343300.1(225967-517794)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.15752 Xenopus laevis transcribed sequence with moderate similarity more 78.32(n)    BX845447.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.244172 Transcribed sequence with weak similarity to protein more 77.76(n)    57052258 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG426846
    --
    16(a)
    1 → many
    X(17604178-17645718)
    worm
    (Caenorhabditis elegans)
    Secernentea gap-23 GTPase-activating protein 44(a)   X(9507707-9551128)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BUD26
    GTPase activating factor for Rsr1p/Bud1p required ...
    14(a)
    1 → many
    XI(266145-269459)


    ENSEMBL Gene Tree for RASAL2 (if available)
    TreeFam Gene Tree for RASAL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RASAL2 gene
    SYNGAP12  DAB2IP2  RASA42  RASA12  RASAL32  RASA22  RASA4B2  RASA32  
    RASAL12  
    4 SIMAP similar genes for RASAL2 using alignment to 4 protein entries:     NGAP_HUMAN (see all proteins):
    DAB2IP    SYNGAP1    FLJ00087    RASAL3

    RASAL2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/6316 SNPs in RASAL2 are shown (see all 6316)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0355414
    A colorectal cancer sample4--see VAR_0355412 R W mis40--------
    VAR_0355424
    A breast cancer sample4--see VAR_0355422 E D mis40--------
    rs717065841,2
    C--149562096(+) TTGCC-/TGTT  
      ATGTTA
    TGTTA
    2 -- int10--------
    rs1498610001,2
    --178065199(+) CCAGTG/TTGTTC 1 -- int10--------
    rs1165386851,2
    F--178065243(+) TTTTCC/AGTCTG 1 -- int11Minor allele frequency- A:0.01WA 118
    rs1458553071,2
    --178065311(+) TGCATA/TTGAAT 1 -- int10--------
    rs775994161,2
    --178065599(+) ATATTG/TTGTGT 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs575317131,2
    C--178065600(+) TGTGTGT/-AAGAG 1 -- int11Minor allele frequency- -:0.00NA 2
    rs2020110981,2
    C--178065623(+) TGTGTA/GAGAGA 1 -- int10--------
    rs1866059891,2
    --178065963(+) TCCTGA/GATACT 1 -- int10--------

    HapMap Linkage Disequilibrium report for RASAL2 (178062864 - 178312864 bp, first 250kb of RASAL2)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for RASAL2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2606666CNV Deletion19546169
    esv2534493CNV Deletion19546169
    esv268437CNV Insertion20981092
    esv273543CNV Insertion20981092
    nsv872568CNV Loss21882294
    nsv508670CNV Loss20534489

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 606136    OMIM disorders: --

    5 diseases for RASAL2:    About MalaCards
    astrocytoma    obesity    gastric cancer    prostate cancer
    prostatitis


    RASAL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): RASAL2
    Human Genome Epidemiology (HuGE) Navigator: RASAL2 (2 documents)

    Export disorders for RASAL2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for RASAL2 gene, integrated from 9 sources (see all 29):
    (articles sorted by number of sources associating them with RASAL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel human RasGAP-like gene that maps within the prostate cancer susceptibility locus at chromosome 1q25. (PubMed id 9877179)1, 2, 3 Noto S....Hatakeyama M. (1998)
    2. Evaluating the discriminative power of multi-trait ge netic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (2010)
    3. Analyses of shared genetic factors between asthma and obesity in children. (PubMed id 20816195)1, 4 MelAcn E....Lasky-Su J. (2010)
    4. Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity. (PubMed id 19079260)1, 4 Thorleifsson G....Stefansson K. (2009)
    5. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    6. Why do cellular proteins linked to K63-polyubiquitin c hains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (2013)
    7. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    8. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (2012)
    9. Genome-wide association study of antibody response to smallpox vaccine. (PubMed id 22542470)1 Ovsyannikova I.G....Poland G.A. (2012)
    10. ECT2 and RASAL2 mediate mesenchymal-amoeboid transitio n in human astrocytoma cells. (PubMed id 22683310)1 Weeks A....Rutka J.T. (2012)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9462 HGNC: 9874 AceView: RASAL2.3 Ensembl:ENSG00000075391 euGenes: HUgn9462
    ECgene: RASAL2 H-InvDB: RASAL2

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for RASAL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for RASAL2 gene:
    Search GeneIP for patents involving RASAL2

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