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RALGAPA2 Ral GTPase activating protein catalytic subunit alpha 2 [ Homo sapiens (human) ]

Gene ID: 57186, updated on 24-Nov-2020

Summary

Official Symbol
RALGAPA2provided by HGNC
Official Full Name
Ral GTPase activating protein catalytic subunit alpha 2provided by HGNC
Primary source
HGNC:HGNC:16207
See related
Ensembl:ENSG00000188559 MIM:618836
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
p220; AS250; C20orf74; dJ1049G11; bA287B20.1; dJ1049G11.4
Expression
Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues See more
Orthologs

Genomic context

See RALGAPA2 in Genome Data Viewer
Location:
20p11.23
Exon count:
47
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (20389530..20712644, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20370202..20693281, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 61 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene INSM transcriptional repressor 1 Neighboring gene VISTA enhancer hs688 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 2040 Neighboring gene LLPH pseudogene 1

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

Associated conditions

Description Tests
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
GeneReviews: Not available
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12819, KIAA1272

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
protein heterodimerization activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
activation of GTPase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
extracellular space HDA PubMed 
nucleus IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
ral GTPase-activating protein subunit alpha-2
Names
250 kDa substrate of Akt
Ral GTPase activating protein catalytic alpha subunit 2
Ral GTPase activating protein, alpha subunit 2 (catalytic)
RapGAPalpha2
akt substrate AS250
ral GTPase-activating protein alpha subunit 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.

mRNA and Protein(s)

  1. NM_020343.4NP_065076.2  ral GTPase-activating protein subunit alpha-2

    See identical proteins and their annotated locations for NP_065076.2

    Status: VALIDATED

    Source sequence(s)
    AL157718, AL161658, AY007097, BC171842, DQ310704
    Consensus CDS
    CCDS46584.1
    UniProtKB/Swiss-Prot
    Q2PPJ7
    Related
    ENSP00000202677.6, ENST00000202677.12
    Conserved Domains (1) summary
    pfam02145
    Location:16651837
    Rap_GAP; Rap/ran-GAP

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    20389530..20712644 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723598.1XP_006723661.1  ral GTPase-activating protein subunit alpha-2 isoform X1

    Conserved Domains (1) summary
    pfam02145
    Location:17121884
    Rap_GAP; Rap/ran-GAP
  2. XM_006723599.1XP_006723662.1  ral GTPase-activating protein subunit alpha-2 isoform X3

    Conserved Domains (1) summary
    pfam02145
    Location:17121884
    Rap_GAP; Rap/ran-GAP
  3. XM_017027976.1XP_016883465.1  ral GTPase-activating protein subunit alpha-2 isoform X10

  4. XM_017027975.1XP_016883464.1  ral GTPase-activating protein subunit alpha-2 isoform X8

  5. XM_011529310.2XP_011527612.1  ral GTPase-activating protein subunit alpha-2 isoform X6

    Related
    ENSP00000400085.1, ENST00000430436.5
    Conserved Domains (1) summary
    pfam02145
    Location:15501722
    Rap_GAP; Rap/ran-GAP
  6. XM_017027974.1XP_016883463.1  ral GTPase-activating protein subunit alpha-2 isoform X7

  7. XM_017027973.1XP_016883462.1  ral GTPase-activating protein subunit alpha-2 isoform X7

  8. XM_011529311.2XP_011527613.2  ral GTPase-activating protein subunit alpha-2 isoform X9

  9. XM_005260768.2XP_005260825.1  ral GTPase-activating protein subunit alpha-2 isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:16651837
    Rap_GAP; Rap/ran-GAP
  10. XM_011529309.1XP_011527611.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    Conserved Domains (1) summary
    pfam02145
    Location:17121869
    Rap_GAP; Rap/ran-GAP
  11. XM_017027972.1XP_016883461.1  ral GTPase-activating protein subunit alpha-2 isoform X5

  12. XM_017027977.1XP_016883466.1  ral GTPase-activating protein subunit alpha-2 isoform X11

RNA

  1. XR_001754352.1 RNA Sequence

  2. XR_937111.2 RNA Sequence

  3. XR_937112.2 RNA Sequence

  4. XR_937114.2 RNA Sequence

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