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

Gene ID: 23108, updated on 4-Nov-2022

Summary

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; AllianceGenome:HGNC:29176
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
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Genomic context

See RAP1GAP2 in Genome Data Viewer
Location:
17p13.3
Exon count:
35
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (2755645..3037741)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (2665930..2926040)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (2680052..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

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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1039, DKFZp686O238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables GTPase activator activity EXP
Inferred from Experiment
more info
PubMed 
enables GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in adaptive immune response TAS
Traceable Author Statement
more info
 
involved_in regulation of cell size IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in regulation of cell size IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in centrosome IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IGI
Inferred from Genetic Interaction
more info
PubMed 

General protein information

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_001100398.2NP_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:263442
    Rap_GAP; Rap/ran-GAP
  2. NM_001330058.2NP_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_001411048.1NP_001397977.1  rap1 GTPase-activating protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (4).
    Source sequence(s)
    AC005696, AC015921, AC097370
    Consensus CDS
    CCDS92223.1
    UniProtKB/TrEMBL
    A0A1B0GV05
  4. NM_001411049.1NP_001397978.1  rap1 GTPase-activating protein 2 isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC002316, AC015921, AC097370
    Consensus CDS
    CCDS92224.1
  5. NM_015085.5NP_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) encodes 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, Q9UPW2
    Related
    ENSP00000254695.8, ENST00000254695.13
    Conserved Domains (1) summary
    pfam02145
    Location:278457
    Rap_GAP; Rap/ran-GAP

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

    Range
    2755645..3037741
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047435668.1XP_047291624.1  rap1 GTPase-activating protein 2 isoform X5

  2. XM_011523738.3XP_011522040.1  rap1 GTPase-activating protein 2 isoform X1

    UniProtKB/TrEMBL
    A0A1B0GV05
    Related
    ENSP00000490321.1, ENST00000637138.1
    Conserved Domains (1) summary
    pfam02145
    Location:319498
    Rap_GAP; Rap/ran-GAP
  3. XM_011523739.3XP_011522041.1  rap1 GTPase-activating protein 2 isoform X2

    Conserved Domains (1) summary
    pfam02145
    Location:304483
    Rap_GAP; Rap/ran-GAP
  4. XM_024450659.2XP_024306427.1  rap1 GTPase-activating protein 2 isoform X11

    Conserved Domains (1) summary
    pfam02145
    Location:319441
    Rap_GAP; Rap/ran-GAP
  5. XM_047435669.1XP_047291625.1  rap1 GTPase-activating protein 2 isoform X7

  6. XM_011523741.3XP_011522043.1  rap1 GTPase-activating protein 2 isoform X5

    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:259438
    Rap_GAP; Rap/ran-GAP
  7. XM_017024371.2XP_016879860.1  rap1 GTPase-activating protein 2 isoform X6

  8. XM_005256542.3XP_005256599.1  rap1 GTPase-activating protein 2 isoform X3

    Related
    ENSP00000513294.1, ENST00000697391.1
    Conserved Domains (1) summary
    pfam02145
    Location:287466
    Rap_GAP; Rap/ran-GAP
  9. XM_047435667.1XP_047291623.1  rap1 GTPase-activating protein 2 isoform X4

  10. XM_011523742.3XP_011522044.1  rap1 GTPase-activating protein 2 isoform X8

    Conserved Domains (1) summary
    pfam02145
    Location:216395
    Rap_GAP; Rap/ran-GAP
  11. XM_011523743.2XP_011522045.1  rap1 GTPase-activating protein 2 isoform X9

    Related
    ENSP00000513295.1, ENST00000697392.1
    Conserved Domains (1) summary
    pfam02145
    Location:231410
    Rap_GAP; Rap/ran-GAP
  12. XM_011523744.3XP_011522046.1  rap1 GTPase-activating protein 2 isoform X10

    See identical proteins and their annotated locations for XP_011522046.1

    Conserved Domains (1) summary
    pfam02145
    Location:32211
    Rap_GAP; Rap/ran-GAP
  13. XM_011523745.3XP_011522047.1  rap1 GTPase-activating protein 2 isoform X12

    Conserved Domains (1) summary
    pfam02145
    Location:62119
    Rap_GAP; Rap/ran-GAP

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060941.1 Alternate T2T-CHM13v2.0

    Range
    2665930..2926040
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)