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    RASGRF2 Ras protein specific guanine nucleotide releasing factor 2 [ Homo sapiens (human) ]

    Gene ID: 5924, updated on 3-Dec-2024

    Summary

    Official Symbol
    RASGRF2provided by HGNC
    Official Full Name
    Ras protein specific guanine nucleotide releasing factor 2provided by HGNC
    Primary source
    HGNC:HGNC:9876
    See related
    Ensembl:ENSG00000113319 MIM:606614; AllianceGenome:HGNC:9876
    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
    GRF2; RAS-GRF2
    Summary
    RAS GTPases cycle between an inactive GDP-bound state and an active GTP-bound state. This gene encodes a calcium-regulated nucleotide exchange factor activating both RAS and RAS-related protein, RAC1, through the exchange of bound GDP for GTP, thereby, coordinating the signaling of distinct mitogen-activated protein kinase pathways. [provided by RefSeq, Oct 2011]
    Expression
    Broad expression in brain (RPKM 9.6), ovary (RPKM 7.2) and 18 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
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    Genomic context

    See RASGRF2 in Genome Data Viewer
    Location:
    5q14.1
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (80960363..81230162)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (81444995..81714744)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80256182..80525981)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene mutS homolog 3 Neighboring gene uncharacterized LOC107986428 Neighboring gene ribosomal protein S26 pseudogene 27 Neighboring gene RASGRF2 antisense RNA 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:80252674-80253194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:80256285-80257006 Neighboring gene Sharpr-MPRA regulatory region 14075 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22729 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80487900-80488408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:80488409-80488915 Neighboring gene uncharacterized LOC124901017 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22730 Neighboring gene CKMT2 antisense RNA 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:80564272-80565471 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80565548-80566100 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80566101-80566651 Neighboring gene MPRA-validated peak5313 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597135-80597924 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:80597925-80598714 Neighboring gene creatine kinase, mitochondrial 2 Neighboring gene zinc finger CCHC-type containing 9 Neighboring gene acyl-CoA thioesterase 12

    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

    EBI GWAS Catalog

    Description
    Common variants at 1p36 are associated with superior frontal gyrus volume.
    EBI GWAS Catalog
    Genetic variants associated with disordered eating.
    EBI GWAS Catalog
    Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts.
    EBI GWAS Catalog
    Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp781H1715

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables guanyl-nucleotide exchange factor activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    ras-specific guanine nucleotide-releasing factor 2
    Names
    ras guanine nucleotide exchange factor 2

    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_030334.1 RefSeqGene

      Range
      4675..274474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006909.3NP_008840.1  ras-specific guanine nucleotide-releasing factor 2

      See identical proteins and their annotated locations for NP_008840.1

      Status: REVIEWED

      Source sequence(s)
      AC026427, BC041953, BC136296, BU430075, BX502901, CR749239, DA219722, DA230428
      Consensus CDS
      CCDS4052.1
      UniProtKB/Swiss-Prot
      B9EG89, O14827, Q9UK56
      UniProtKB/TrEMBL
      A0A2X0SFL3, D6RAS9
      Related
      ENSP00000265080.4, ENST00000265080.9
      Conserved Domains (6) summary
      smart00147
      Location:9981234
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      smart00229
      Location:901972
      RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
      smart00233
      Location:480588
      PH; Pleckstrin homology domain
      smart00325
      Location:247428
      RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases
      cd13261
      Location:19158
      PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
      pfam00618
      Location:638686
      RasGEF_N; RasGEF N-terminal motif

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      80960363..81230162
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005248565.2XP_005248622.1  ras-specific guanine nucleotide-releasing factor 2 isoform X3

      UniProtKB/TrEMBL
      D6RAS9
      Conserved Domains (6) summary
      smart00233
      Location:480588
      PH; Pleckstrin homology domain
      cd13261
      Location:19158
      PH_RasGRF1_2; Ras-specific guanine nucleotide-releasing factors 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:24133
      PH; PH domain
      pfam00618
      Location:638686
      RasGEF_N; RasGEF N-terminal motif
      pfam00621
      Location:247428
      RhoGEF; RhoGEF domain
      cl02520
      Location:901931
      REM; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal domain (RasGef_N), also called REM domain (Ras exchanger motif). This domain is common in nucleotide exchange factors for Ras-like small GTPases and is typically found immediately ...
    2. XM_017009683.2XP_016865172.1  ras-specific guanine nucleotide-releasing factor 2 isoform X4

    3. XM_047417464.1XP_047273420.1  ras-specific guanine nucleotide-releasing factor 2 isoform X1

      UniProtKB/TrEMBL
      D6RAS9
    4. XM_047417463.1XP_047273419.1  ras-specific guanine nucleotide-releasing factor 2 isoform X1

      UniProtKB/TrEMBL
      D6RAS9
    5. XM_047417466.1XP_047273422.1  ras-specific guanine nucleotide-releasing factor 2 isoform X2

      UniProtKB/TrEMBL
      D6RAS9
    6. XM_047417465.1XP_047273421.1  ras-specific guanine nucleotide-releasing factor 2 isoform X2

      UniProtKB/TrEMBL
      D6RAS9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      81444995..81714744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054353040.1XP_054209015.1  ras-specific guanine nucleotide-releasing factor 2 isoform X3

      UniProtKB/TrEMBL
      D6RAS9
    2. XM_054353041.1XP_054209016.1  ras-specific guanine nucleotide-releasing factor 2 isoform X4

    3. XM_054353037.1XP_054209012.1  ras-specific guanine nucleotide-releasing factor 2 isoform X1

      UniProtKB/TrEMBL
      D6RAS9
    4. XM_054353036.1XP_054209011.1  ras-specific guanine nucleotide-releasing factor 2 isoform X1

      UniProtKB/TrEMBL
      D6RAS9
    5. XM_054353039.1XP_054209014.1  ras-specific guanine nucleotide-releasing factor 2 isoform X2

      UniProtKB/TrEMBL
      D6RAS9
    6. XM_054353038.1XP_054209013.1  ras-specific guanine nucleotide-releasing factor 2 isoform X2

      UniProtKB/TrEMBL
      D6RAS9