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RAP1GAP2 RAP1 GTPase activating protein 2 [ Homo sapiens (human) ]

Gene ID: 23108, updated on 13-Mar-2020

Summary

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Official Symbol
RAP1GAP2provided by HGNC
Official Full Name
RAP1 GTPase activating protein 2provided by HGNC
Primary source
HGNC:HGNC:29176
See related
Ensembl:ENSG00000132359 MIM:618714
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
GARNL4; RAP1GA3
Summary
This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Ubiquitous expression in brain (RPKM 11.5), bone marrow (RPKM 10.7) and 24 other tissues See more
Orthologs
mouse all

Genomic context

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See RAP1GAP2 in Genome Data Viewer
Location:
17p13.3
Exon count:
34
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (2755686..3037741)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2659050..2941035)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105371592 Neighboring gene coiled-coil domain containing 92B Neighboring gene microRNA 1253 Neighboring gene uncharacterized LOC101927911 Neighboring gene olfactory receptor family 1 subfamily D member 5 Neighboring gene olfactory receptor family 1 subfamily D member 2

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
  • 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. Expression, activation, and subcellular localization of the Rap1 GTPase in cord blood-derived human megakaryocytes. Balduini A, et al. Exp Cell Res, 2004 Oct 15. PMID 15383317
  2. Synaptotagmin-like protein 1 interacts with the GTPase-activating protein Rap1GAP2 and regulates dense granule secretion in platelets. Neumüller O, et al. Blood, 2009 Aug 13. PMID 19528539
  3. Cyclic nucleotide-dependent protein kinases inhibit binding of 14-3-3 to the GTPase-activating protein Rap1GAP2 in platelets. Hoffmeister M, et al. J Biol Chem, 2008 Jan 25. PMID 18039662
  4. Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets. Schultess J, et al. Blood, 2005 Apr 15. PMID 15632203
  5. Genome-wide interaction studies reveal sex-specific asthma risk alleles. Myers RA, et al. Hum Mol Genet, 2014 Oct 1. PMID 24824216, Free PMC Article

See all (16) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
    Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
  2. Slp1 inhibits dense granule secretion in platelets and that Rap1GAP2 modulates secretion by binding to Slp1.
    Title: Synaptotagmin-like protein 1 interacts with the GTPase-activating protein Rap1GAP2 and regulates dense granule secretion in platelets.
  3. Platelet activation by ADP and thrombin enhances serine 9 phosphorylation and increases 14-3-3 binding to endogenous Rap1GAP2.
    Title: Cyclic nucleotide-dependent protein kinases inhibit binding of 14-3-3 to the GTPase-activating protein Rap1GAP2 in platelets.
  4. Rap1GAP2 is the first GTPase-activating protein of Rap1 found in platelets and is likely to have an important regulatory role in platelet aggregation
    Title: Rap1GAP2 is a new GTPase-activating protein of Rap1 expressed in human platelets.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

NHGRI GWAS Catalog

Description
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide interaction studies reveal sex-specific asthma risk alleles.
NHGRI GWA Catalog
GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
NHGRI GWA 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

  • KIAA1039, DKFZp686O238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
negative regulation of neuron projection development IEA
Inferred from Electronic Annotation
more info
  
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
  
regulation of cell size IGI
Inferred from Genetic Interaction
more info
 PubMed 
regulation of cell size IMP
Inferred from Mutant Phenotype
more info
 PubMed 
regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
centrosome IDA
Inferred from Direct Assay
more info
 PubMed 
cytosol IDA
Inferred from Direct Assay
more info
  
cytosol TAS
Traceable Author Statement
more info
  
neuron projection IEA
Inferred from Electronic Annotation
more info
  
nuclear membrane IDA
Inferred from Direct Assay
more info
  
perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
  
plasma membrane IGI
Inferred from Genetic Interaction
more info
 PubMed 

General protein information

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Preferred Names
rap1 GTPase-activating protein 2
Names
GTPase activating RANGAP domain-like 4
GTPase activating Rap/RanGAP domain-like 4
GTPase-activating Rap/Ran-GAP domain-like protein 4

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.

Genomic

  1. NG_013030.2 RefSeqGene

    Range
    45741..287044
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001100398.2 → NP_001093868.1  rap1 GTPase-activating protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (2) lacks an internal segment, compared to isoform 1. This variant is also known as variant a, as described in PMID: 15632203.
    Source sequence(s)
    AC015921, AC097370, AJ628447, BE208439, BU629928, CR627427, DN831680
    Consensus CDS
    CCDS45574.1
    UniProtKB/Swiss-Prot
    Q684P5
    Related
    ENSP00000389824.2, ENST00000366401.8
    Conserved Domains (1) summary
    pfam02145
    Location:263 → 442
    Rap_GAP; Rap/ran-GAP

  2. NM_001330058.2 → NP_001316987.1  rap1 GTPase-activating protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and uses a downstream start site compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC005696, AC015921, AC097370, BU629928
    Consensus CDS
    CCDS82035.1
    UniProtKB/Swiss-Prot
    Q684P5

  3. NM_015085.5 → NP_055900.4  rap1 GTPase-activating protein 2 isoform 1

    See identical proteins and their annotated locations for NP_055900.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1). This variant is also known as variant b, as described in PMID: 15632203.
    Source sequence(s)
    AC015921, AC097370, AJ628446, BE208439, BU629928, CR627427, DN831680
    Consensus CDS
    CCDS45573.1
    UniProtKB/Swiss-Prot
    Q684P5
    Related
    ENSP00000254695.8, ENST00000254695.13
    Conserved Domains (1) summary
    pfam02145
    Location:278 → 457
    Rap_GAP; Rap/ran-GAP

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_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    2755686..3037741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011523738.2 → XP_011522040.1  rap1 GTPase-activating protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A1B0GV05
    Related
    ENSP00000490321.1, ENST00000637138.1
    Conserved Domains (1) summary
    pfam02145
    Location:319 → 498
    Rap_GAP; Rap/ran-GAP

  2. XM_011523739.2 → XP_011522041.1  rap1 GTPase-activating protein 2 isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:304 → 483
    Rap_GAP; Rap/ran-GAP

  3. XM_024450659.1 → XP_024306427.1  rap1 GTPase-activating protein 2 isoform X9

    Conserved Domains (1) summary
    pfam02145
    Location:319 → 441
    Rap_GAP; Rap/ran-GAP

  4. XM_011523741.2 → XP_011522043.1  rap1 GTPase-activating protein 2 isoform X4

    See identical proteins and their annotated locations for XP_011522043.1

    UniProtKB/Swiss-Prot
    Q684P5
    Related
    ENSP00000439688.2, ENST00000540393.6
    Conserved Domains (1) summary
    pfam02145
    Location:259 → 438
    Rap_GAP; Rap/ran-GAP

  5. XM_017024371.1 → XP_016879860.1  rap1 GTPase-activating protein 2 isoform X5

  6. XM_005256542.2 → XP_005256599.1  rap1 GTPase-activating protein 2 isoform X3

    Conserved Domains (1) summary
    pfam02145
    Location:287 → 466
    Rap_GAP; Rap/ran-GAP

  7. XM_011523743.2 → XP_011522045.1  rap1 GTPase-activating protein 2 isoform X7

    Conserved Domains (1) summary
    pfam02145
    Location:231 → 410
    Rap_GAP; Rap/ran-GAP

  8. XM_011523742.2 → XP_011522044.1  rap1 GTPase-activating protein 2 isoform X6

    Conserved Domains (1) summary
    pfam02145
    Location:216 → 395
    Rap_GAP; Rap/ran-GAP

  9. XM_011523745.2 → XP_011522047.1  rap1 GTPase-activating protein 2 isoform X10

    Conserved Domains (1) summary
    pfam02145
    Location:62 → 119
    Rap_GAP; Rap/ran-GAP

  10. XM_011523744.2 → XP_011522046.1  rap1 GTPase-activating protein 2 isoform X8

    See identical proteins and their annotated locations for XP_011522046.1

    Conserved Domains (1) summary
    pfam02145
    Location:32 → 211
    Rap_GAP; Rap/ran-GAP
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q684P5.2 GenPept UniProtKB/Swiss-Prot:Q684P5

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