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

    Gene ID: 55103, updated on 2-Nov-2024

    Summary

    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 Ras protein signal transduction. Predicted to be located in cytoplasm. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in testis (RPKM 23.5), lymph node (RPKM 18.8) and 22 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See RALGPS2 in Genome Data Viewer
    Location:
    1q25.2
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (178725244..178921840)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (178079963..178276579)
    RS_2024_09 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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    General gene information

    Clone Names

    • FLJ10244, FLJ25604, KIAA0351

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity  
    enables protein binding PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm  
    is_active_in plasma membrane  

    General protein information

    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)

    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.

    mRNA and Protein(s)

    1. NM_001286247.2NP_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:45286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:433548
      PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:432542
      PH; PH domain
    2. NM_001400042.1NP_001386971.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AL162255, AL355520, AL449106
    3. NM_152663.5NP_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:45286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:459574
      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_2024_08

    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_047423755.1XP_047279711.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X1

      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
    2. XM_047423766.1XP_047279722.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

    3. XM_006711410.4XP_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:45286
      RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
      cd13310
      Location:459574
      PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    4. XM_047423777.1XP_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_054337315.1XP_054193290.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

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

      UniProtKB/Swiss-Prot
      B7Z7B1, Q5T5Z1, Q5VZ67, Q86X27, Q9NW78
    3. XM_054337316.1XP_054193291.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

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