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

Gene ID: 5924, updated on 1-Jun-2020

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
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

Genomic context

See RASGRF2 in Genome Data Viewer
Location:
5q14.1
Exon count:
31
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (80960363..81230162)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (80256491..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 uncharacterized LOC107986359 Neighboring gene CKMT2 antisense RNA 1 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

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp781H1715

Gene Ontology Provided by GOA

Function Evidence Code Pubs
Ras guanyl-nucleotide exchange factor activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calmodulin binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
G protein-coupled receptor signaling pathway TAS
Traceable Author Statement
more info
 
MAPK cascade TAS
Traceable Author Statement
more info
 
positive regulation of apoptotic process TAS
Traceable Author Statement
more info
 
regulation of Rho protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
regulation of small GTPase mediated signal transduction TAS
Traceable Author Statement
more info
 
response to endoplasmic reticulum stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
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)

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
    O14827
    UniProtKB/TrEMBL
    Q68DX5
    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: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

  1. XM_005248565.1XP_005248622.1  ras-specific guanine nucleotide-releasing factor 2 isoform X2

    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_024446141.1XP_024301909.1  ras-specific guanine nucleotide-releasing factor 2 isoform X3

    Conserved Domains (4) summary
    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
  3. XM_017009683.1XP_016865172.1  ras-specific guanine nucleotide-releasing factor 2 isoform X4

  4. XM_024446142.1XP_024301910.1  ras-specific guanine nucleotide-releasing factor 2 isoform X5

    Conserved Domains (3) summary
    smart00233
    Location:480585
    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
  5. XM_017009682.2XP_016865171.1  ras-specific guanine nucleotide-releasing factor 2 isoform X1

RNA

  1. XR_002956166.1 RNA Sequence

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