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RASA2 RAS p21 protein activator 2 [ Homo sapiens (human) ]

Gene ID: 5922, updated on 13-Mar-2020

Summary

Official Symbol
RASA2provided by HGNC
Official Full Name
RAS p21 protein activator 2provided by HGNC
Primary source
HGNC:HGNC:9872
See related
Ensembl:ENSG00000155903 MIM:601589
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GAP1M
Summary
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Expression
Ubiquitous expression in lymph node (RPKM 9.4), appendix (RPKM 7.9) and 24 other tissues See more
Orthologs

Genomic context

See RASA2 in Genome Data Viewer
Location:
3q23
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (141487027..141615356)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (141205891..141334186)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene zinc finger and BTB domain containing 38 Neighboring gene keratin 18 pseudogene 35 Neighboring gene YWHAQ pseudogene 6 Neighboring gene long intergenic non-protein coding RNA 2618 Neighboring gene tumor protein, translationally-controlled 1 pseudogene 3 Neighboring gene ring finger protein 7

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

NHGRI GWAS Catalog

Description
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
NHGRI GWA Catalog
Seventy-five genetic loci influencing the human red blood cell.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phospholipid binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
MAPK cascade TAS
Traceable Author Statement
more info
 
negative regulation of Ras protein signal transduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
ras GTPase-activating protein 2
Names
GTPase-activating protein 1m
GTPase-activating protein of RAS

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.

Genomic

  1. NG_042187.1 RefSeqGene

    Range
    4981..133310
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001303245.2NP_001290174.1  ras GTPase-activating protein 2 isoform 2

    See identical proteins and their annotated locations for NP_001290174.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site and lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (2) is shorter compared to isoform 1.
    Source sequence(s)
    AA214345, AC010184, AF115573, AK025305, AK292016, BM968286, D78155, D82880, DA152165, DA792257
    UniProtKB/Swiss-Prot
    Q15283
    Conserved Domains (7) summary
    smart00107
    Location:708743
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:172314
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:39159
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05394
    Location:323593
    RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
    smart00323
    Location:301642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13370
    Location:590723
    PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
    pfam00169
    Location:607706
    PH; PH domain
  2. NM_001303246.2NP_001290175.1  ras GTPase-activating protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001290175.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AA214345, AC010184, AF115573, AK025305, BM968286, D78155, D82880, DA152165, DA792257
    UniProtKB/Swiss-Prot
    Q15283
    Conserved Domains (7) summary
    smart00107
    Location:711746
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:172314
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:39159
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05394
    Location:323593
    RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
    smart00323
    Location:301642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13370
    Location:590726
    PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
    pfam00169
    Location:607709
    PH; PH domain
  3. NM_006506.5NP_006497.2  ras GTPase-activating protein 2 isoform 3

    See identical proteins and their annotated locations for NP_006497.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter compared to isoform 1.
    Source sequence(s)
    AA214345, AC010184, AF115573, AK025305, BM968286, D78155, D82880, DA152165, DA792257
    Consensus CDS
    CCDS3117.1
    UniProtKB/Swiss-Prot
    Q15283
    Related
    ENSP00000286364.3, ENST00000286364.9
    Conserved Domains (7) summary
    smart00107
    Location:707742
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:172314
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:39159
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    cd05394
    Location:323593
    RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
    smart00323
    Location:301642
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13370
    Location:590722
    PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
    pfam00169
    Location:607705
    PH; 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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    141487027..141615356
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017006971.1XP_016862460.1  ras GTPase-activating protein 2 isoform X6

  2. XM_017006970.1XP_016862459.1  ras GTPase-activating protein 2 isoform X5

  3. XM_017006968.1XP_016862457.1  ras GTPase-activating protein 2 isoform X1

  4. XM_017006969.1XP_016862458.1  ras GTPase-activating protein 2 isoform X2

  5. XM_011513059.2XP_011511361.1  ras GTPase-activating protein 2 isoform X3

    Conserved Domains (7) summary
    smart00107
    Location:711746
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:175317
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd08401
    Location:49162
    C2A_RasA2_RasA3; C2 domain first repeat present in RasA2 and RasA3
    smart00323
    Location:304645
    RasGAP; GTPase-activator protein for Ras-like GTPases
    cd13370
    Location:593726
    PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
    pfam00169
    Location:610709
    PH; PH domain
    cl02569
    Location:326596
    RasGAP; Ras GTPase Activating Domain
  6. XM_024453691.1XP_024309459.1  ras GTPase-activating protein 2 isoform X4

    Conserved Domains (5) summary
    smart00107
    Location:650685
    BTK; Bruton's tyrosine kinase Cys-rich motif
    cd04010
    Location:114256
    C2B_RasA3; C2 domain second repeat present in RAS p21 protein activator 3 (RasA3)
    cd05394
    Location:265535
    RasGAP_RASA2; Ras-GTPase Activating Domain of RASA2
    cd13370
    Location:532665
    PH_GAP1m_mammal-like; GTPase activating protein 1 m pleckstrin homology (PH) domain
    cl14603
    Location:1101
    C2; C2 domain
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