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

Gene ID: 57186, updated on 3-Nov-2024

Summary

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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; AllianceGenome:HGNC:16207
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
Summary
Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues See more
Orthologs
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Genomic context

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See RALGAPA2 in Genome Data Viewer
Location:
20p11.23
Exon count:
48
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (20389530..20712644, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (20448061..20771350, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (20370174..20693287, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cilia and flagella associated protein 61 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17607 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12710 Neighboring gene RNA, 7SL, cytoplasmic 690, pseudogene Neighboring gene Sharpr-MPRA regulatory region 7426 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:20347841-20348611 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:20373434-20374633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375428-20375972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:20375973-20376516 Neighboring gene Sharpr-MPRA regulatory region 956 Neighboring gene NANOG hESC enhancer GRCh37_chr20:20391221-20391855 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17608 Neighboring gene INSM transcriptional repressor 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17609 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17611 Neighboring gene VISTA enhancer hs688 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17612 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17613 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12711 Neighboring gene eukaryotic translation initiation factor 4E family member 2 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12712 Neighboring gene Sharpr-MPRA regulatory region 2040 Neighboring gene uncharacterized LOC105372555 Neighboring gene RNA, 7SL, cytoplasmic 607, pseudogene Neighboring gene LLPH pseudogene 1

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 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. Ral GTPase Activation by Downregulation of RalGAP Enhances Oral Squamous Cell Carcinoma Progression. Gao P, et al. J Dent Res, 2019 Aug. PMID 31329042
  2. Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer. Saito R, et al. Oncogene, 2013 Feb 14. PMID 22450745
  3. The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer. Fattahi Dolatabadi N, et al. Hum Cell, 2020 Oct. PMID 32880825
  4. Downregulation of RalGTPase-activating protein promotes invasion of prostatic epithelial cells and progression from intraepithelial neoplasia to cancer during prostate carcinogenesis. Uegaki M, et al. Carcinogenesis, 2019 Dec 31. PMID 31058283
  5. Adipocytes contain a novel complex similar to the tuberous sclerosis complex. Gridley S, et al. Cell Signal, 2006 Oct. PMID 16490346

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer.
    Title: The interaction between MALAT1 target, miR-143-3p, and RALGAPA2 is affected by functional SNP rs3827693 in breast cancer.
  2. Low RalGAPalpha2 expression was associated with a reduced survival rate in patients with oral squamous cell carcinoma
    Title: Ral GTPase Activation by Downregulation of RalGAP Enhances Oral Squamous Cell Carcinoma Progression.
  3. loss of RalGAP function has a distinct role in promoting progression from prostatic intraepithelial neoplasia to invasive adenocarcinoma.
    Title: Downregulation of RalGTPase-activating protein promotes invasion of prostatic epithelial cells and progression from intraepithelial neoplasia to cancer during prostate carcinogenesis.
  4. Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer.
    Title: Downregulation of Ral GTPase-activating protein promotes tumor invasion and metastasis of bladder cancer.
  5. The cDNA sequence for human AS250 is reported, and the sites that undergo phosphorylation upon insulin treatment of adipocytes have been identified by tandem mass spectrometry.
    Title: Adipocytes contain a novel complex similar to the tuberous sclerosis complex.
Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Heritability and genetic association analysis of cognition in the Diabetes Heart Study.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

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

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12819, KIAA1272

Gene Ontology Provided by GOA

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

General protein information

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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)

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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_020343.4 → NP_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, Q4VXU6, Q5JUA3, Q5JUA4, Q5T9K3, Q96CX9, Q9BQT7, Q9H9D9, Q9ULE8
    UniProtKB/TrEMBL
    H7C1F9
    Related
    ENSP00000202677.6, ENST00000202677.12
    Conserved Domains (1) summary
    pfam02145
    Location:1665 → 1837
    Rap_GAP; Rap/ran-GAP

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_000020.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_011529310.3 → XP_011527612.1  ral GTPase-activating protein subunit alpha-2 isoform X6

    UniProtKB/TrEMBL
    H7C1F9
    Related
    ENSP00000400085.1, ENST00000430436.5
    Conserved Domains (1) summary
    pfam02145
    Location:1550 → 1722
    Rap_GAP; Rap/ran-GAP

  2. XM_005260768.3 → XP_005260825.1  ral GTPase-activating protein subunit alpha-2 isoform X2

    UniProtKB/TrEMBL
    H7C1F9
    Conserved Domains (1) summary
    pfam02145
    Location:1665 → 1837
    Rap_GAP; Rap/ran-GAP

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

    UniProtKB/TrEMBL
    H7C1F9
    Conserved Domains (1) summary
    pfam02145
    Location:1712 → 1884
    Rap_GAP; Rap/ran-GAP

  4. XM_006723599.2 → XP_006723662.1  ral GTPase-activating protein subunit alpha-2 isoform X3

    UniProtKB/TrEMBL
    H7C1F9
    Conserved Domains (1) summary
    pfam02145
    Location:1712 → 1884
    Rap_GAP; Rap/ran-GAP

  5. XM_047440323.1 → XP_047296279.1  ral GTPase-activating protein subunit alpha-2 isoform X9

  6. XM_047440322.1 → XP_047296278.1  ral GTPase-activating protein subunit alpha-2 isoform X7

  7. XM_011529311.3 → XP_011527613.2  ral GTPase-activating protein subunit alpha-2 isoform X8

  8. XM_047440324.1 → XP_047296280.1  ral GTPase-activating protein subunit alpha-2 isoform X10

  9. XM_047440320.1 → XP_047296276.1  ral GTPase-activating protein subunit alpha-2 isoform X4

  10. XM_047440321.1 → XP_047296277.1  ral GTPase-activating protein subunit alpha-2 isoform X5

  11. XM_011529309.2 → XP_011527611.1  ral GTPase-activating protein subunit alpha-2 isoform X4

    UniProtKB/TrEMBL
    H7C1F9
    Conserved Domains (1) summary
    pfam02145
    Location:1712 → 1869
    Rap_GAP; Rap/ran-GAP

  12. XM_047440319.1 → XP_047296275.1  ral GTPase-activating protein subunit alpha-2 isoform X4

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

RNA

  1. XR_007067471.1 RNA Sequence

  2. XR_937111.3 RNA Sequence

  3. XR_007067470.1 RNA Sequence

  4. XR_001754352.2 RNA Sequence

  5. XR_007067472.1 RNA Sequence

  6. XR_007067473.1 RNA Sequence

  7. XR_937112.3 RNA Sequence

  8. XR_937114.3 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    20448061..20771350 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323751.1 → XP_054179726.1  ral GTPase-activating protein subunit alpha-2 isoform X6

  2. XM_054323744.1 → XP_054179719.1  ral GTPase-activating protein subunit alpha-2 isoform X2

  3. XM_054323743.1 → XP_054179718.1  ral GTPase-activating protein subunit alpha-2 isoform X1

  4. XM_054323745.1 → XP_054179720.1  ral GTPase-activating protein subunit alpha-2 isoform X3

  5. XM_054323754.1 → XP_054179729.1  ral GTPase-activating protein subunit alpha-2 isoform X9

  6. XM_054323752.1 → XP_054179727.1  ral GTPase-activating protein subunit alpha-2 isoform X7

  7. XM_054323753.1 → XP_054179728.1  ral GTPase-activating protein subunit alpha-2 isoform X8

  8. XM_054323755.1 → XP_054179730.1  ral GTPase-activating protein subunit alpha-2 isoform X10

  9. XM_054323750.1 → XP_054179725.1  ral GTPase-activating protein subunit alpha-2 isoform X5

  10. XM_054323748.1 → XP_054179723.1  ral GTPase-activating protein subunit alpha-2 isoform X4

  11. XM_054323747.1 → XP_054179722.1  ral GTPase-activating protein subunit alpha-2 isoform X4

  12. XM_054323746.1 → XP_054179721.1  ral GTPase-activating protein subunit alpha-2 isoform X4

  13. XM_054323749.1 → XP_054179724.1  ral GTPase-activating protein subunit alpha-2 isoform X12

  14. XM_054323756.1 → XP_054179731.1  ral GTPase-activating protein subunit alpha-2 isoform X11

RNA

  1. XR_008485283.1 RNA Sequence

  2. XR_008485281.1 RNA Sequence

  3. XR_008485282.1 RNA Sequence

  4. XR_008485280.1 RNA Sequence

  5. XR_008485285.1 RNA Sequence

  6. XR_008485284.1 RNA Sequence

  7. XR_008485286.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2PPJ7.2 GenPept UniProtKB/Swiss-Prot:Q2PPJ7

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