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RALGPS2 Ral GEF with PH domain and SH3 binding motif 2 [ Homo sapiens (human) ]

Gene ID: 55103, updated on 11-Apr-2024

Summary

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Official Symbol
RALGPS2provided by HGNC
Official Full Name
Ral GEF with PH domain and SH3 binding motif 2provided by HGNC
Primary source
HGNC:HGNC:30279
See related
Ensembl:ENSG00000116191 MIM:617819; AllianceGenome:HGNC:30279
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
dJ595C2.1
Summary
Predicted to enable guanyl-nucleotide exchange factor activity. Predicted to be involved in regulation of Ral protein signal transduction; regulation of catalytic activity; and small GTPase mediated signal transduction. Predicted to be located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in testis (RPKM 23.5), lymph node (RPKM 18.8) and 22 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
1q25.2
Exon count:
23
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178725244..178921840)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178079963..178276579)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178694379..178890975)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene NANOG hESC enhancer GRCh37_chr1:178650996-178651556 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:178653106-178654305 Neighboring gene microRNA 4424 Neighboring gene tRNA-undetermined (NNN) 7-1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:178694153-178694307 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:178694729-178695318 Neighboring gene RALGPS2 antisense RNA 1 Neighboring gene PTPN2 pseudogene 1 Neighboring gene uncharacterized LOC124904462 Neighboring gene angiopoietin like 1 Neighboring gene uncharacterized LOC102724754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178908305-178908804 Neighboring gene MPRA-validated peak477 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:178915423-178916208 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1582 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10033 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1583 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1584 Neighboring gene Sharpr-MPRA regulatory region 12139 Neighboring gene FAM20B glycosaminoglycan xylosylkinase Neighboring gene ribosomal protein S26 pseudogene 16

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. RalGPS2 Is Essential for Survival and Cell Cycle Progression of Lung Cancer Cells Independently of Its Established Substrates Ral GTPases. O Santos A, et al. PLoS One, 2016. PMID 27149377, Free PMC Article
  2. A growing family of guanine nucleotide exchange factors is responsible for activation of Ras-family GTPases. Quilliam LA, et al. Prog Nucleic Acid Res Mol Biol, 2002. PMID 12102558
  3. RalGPS2 is involved in tunneling nanotubes formation in 5637 bladder cancer cells. D'Aloia A, et al. Exp Cell Res, 2018 Jan 15. PMID 29208460
  4. Cloning and characterization of a new Ral-GEF expressed in mouse testis. Martegani E, et al. Ann N Y Acad Sci, 2002 Nov. PMID 12485849
  5. Identification and characterization of a new family of guanine nucleotide exchange factors for the ras-related GTPase Ral. Rebhun JF, et al. J Biol Chem, 2000 May 5. PMID 10747847

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. In fact the overexpression of RalGPS2 or of its PH-domain increased markedly the number and the length of nanotubes, while the knock-down of RalGPS2 caused a strong reduction of these structures. Moreover, using a series of RalA mutants impaired in the interaction with different downstream components (Sec5, Exo84, RalBP1) we demonstrated that the interaction of RalA with Sec5 is required for TNTs formation
    Title: RalGPS2 is involved in tunneling nanotubes formation in 5637 bladder cancer cells.
  2. RALGPS2 is implicated in the control of cell cycle progression and survival in the in vitro growth of NSCLC cell lines. This function is largely independent of Ral GTPases and associated with modulation of Skp2, p27 and p21 cell cycle regulators
    Title: RalGPS2 Is Essential for Survival and Cell Cycle Progression of Lung Cancer Cells Independently of Its Established Substrates Ral GTPases.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ10244, FLJ25604, KIAA0351

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in Ras protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
ras-specific guanine nucleotide-releasing factor RalGPS2
Names
Ral-A exchange factor RalGPS2
ral GEF with PH domain and SH3-binding motif 2
ralA exchange factor RalGPS2

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.

mRNA and Protein(s)

  1. NM_001286247.2 → NP_001273176.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 2

    See identical proteins and their annotated locations for NP_001273176.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AK301753, AL355520, AL449106, CK902157
    Consensus CDS
    CCDS65733.1
    UniProtKB/Swiss-Prot
    Q86X27
    Related
    ENSP00000356606.2, ENST00000367634.7
    Conserved Domains (3) summary
    smart00147
    Location:45 → 286
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:433 → 548
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:432 → 542
    PH; PH domain

  2. NM_001400042.1 → NP_001386971.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL162255, AL355520, AL449106

  3. NM_152663.5 → NP_689876.2  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 1

    See identical proteins and their annotated locations for NP_689876.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (10 represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AL355520, AL449106, BC047391, CK902157
    Consensus CDS
    CCDS1325.1
    UniProtKB/Swiss-Prot
    B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
    Related
    ENSP00000356607.3, ENST00000367635.8
    Conserved Domains (2) summary
    smart00147
    Location:45 → 286
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:459 → 574
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain

RNA

  1. NR_174383.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL162255, AL355520, AL449106

  2. NR_174384.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AL162255, AL355520, AL449106

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
    178725244..178921840
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047423755.1 → XP_047279711.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78

  2. XM_047423766.1 → XP_047279722.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

  3. XM_006711410.4 → XP_006711473.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

    See identical proteins and their annotated locations for XP_006711473.1

    UniProtKB/Swiss-Prot
    B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
    Conserved Domains (2) summary
    smart00147
    Location:45 → 286
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cd13310
    Location:459 → 574
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain

  4. XM_047423777.1 → XP_047279733.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    178079963..178276579
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054337315.1 → XP_054193290.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

  2. XM_054337314.1 → XP_054193289.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

    UniProtKB/Swiss-Prot
    B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78

  3. XM_054337316.1 → XP_054193291.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_018037.1: Suppressed sequence

    Description
    NM_018037.1: This RefSeq was permanently suppressed because its 3' end is primarily intronic sequence.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q86X27.1 GenPept UniProtKB/Swiss-Prot:Q86X27

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