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

Gene ID: 55103, updated on 7-Jun-2020

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
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
Expression
Broad expression in testis (RPKM 23.5), lymph node (RPKM 18.8) and 22 other tissues See more
Orthologs

Genomic context

See RALGPS2 in Genome Data Viewer
Location:
1q25.2
Exon count:
21
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (178725147..178921842)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (178694300..178890975)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 4424 Neighboring gene tRNA-undetermined (NNN) 7-1 Neighboring gene translation initiation factor IF-2 Neighboring gene PTPN2 pseudogene 1 Neighboring gene angiopoietin like 1 Neighboring gene uncharacterized LOC102724754 Neighboring gene CRISPRi-validated cis-regulatory element chr1.10033

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10244, FLJ25604, KIAA0351

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
regulation of Ral protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IEA
Inferred from Electronic Annotation
more info
 

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)

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_001286247.1NP_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, ENST00000367634.6
    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_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
    Q86X27
    Related
    ENSP00000356607.3, ENST00000367635.7
    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

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_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    178725147..178921842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011509688.1XP_011507990.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X2

    Conserved Domains (2) summary
    smart00147
    Location:45286
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases
    cl17171
    Location:459549
    PH-like; Pleckstrin homology-like domain
  2. XM_017001591.2XP_016857080.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X4

  3. XM_006711410.3XP_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
    Q86X27
    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_006711411.3XP_006711474.1  ras-specific guanine nucleotide-releasing factor RalGPS2 isoform X3

    Conserved Domains (3) summary
    cd13310
    Location:259374
    PH_RalGPS1_2; Ral GEF with PH domain and SH3 binding motif 1 and 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:258368
    PH; PH domain
    cl02485
    Location:386
    RasGEF; Guanine nucleotide exchange factor for Ras-like small GTPases. Small GTP-binding proteins of the Ras superfamily function as molecular switches in fundamental events such as signal transduction, cytoskeleton dynamics and intracellular trafficking. ...

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.
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