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RAP2C RAP2C, member of RAS oncogene family [ Homo sapiens (human) ]

Gene ID: 57826, updated on 12-Oct-2019

Summary

Official Symbol
RAP2Cprovided by HGNC
Official Full Name
RAP2C, member of RAS oncogene familyprovided by HGNC
Primary source
HGNC:HGNC:21165
See related
Ensembl:ENSG00000123728 MIM:301016
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
Summary
The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]
Expression
Ubiquitous expression in endometrium (RPKM 31.6), bone marrow (RPKM 18.9) and 24 other tissues See more
Orthologs

Genomic context

See RAP2C in Genome Data Viewer
Location:
Xq26.2
Exon count:
8
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (132203024..132219480, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (131337052..131353508, complement)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 26 Neighboring gene FERM domain containing 7 Neighboring gene acylglycerol kinase pseudogene Neighboring gene RAP2C antisense RNA 1 Neighboring gene muscleblind like splicing regulator 3 Neighboring gene RNA, U6 small nuclear 98, pseudogene

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

Pathways from BioSystems

  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • Innate Immune System, organism-specific biosystem (from REACTOME)
    Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
  • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
    Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
  • Tight junction, organism-specific biosystem (from KEGG)
    Tight junction, organism-specific biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...
  • Tight junction, conserved biosystem (from KEGG)
    Tight junction, conserved biosystemTight junctions (TJs) are essential for establishing a selectively permeable barrier to diffusion through the paracellular space between neighboring cells. TJs are composed of at least three types of...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp313B211

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GDP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GDP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTP binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTP binding IDA
Inferred from Direct Assay
more info
PubMed 
GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Rap protein signal transduction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rap protein signal transduction ISS
Inferred from Sequence or Structural Similarity
more info
 
establishment of endothelial intestinal barrier IGI
Inferred from Genetic Interaction
more info
PubMed 
establishment of endothelial intestinal barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT microvillus assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell migration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell migration ISS
Inferred from Sequence or Structural Similarity
more info
 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
positive regulation of nucleic acid-templated transcription IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein autophosphorylation ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of protein tyrosine kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
bicellular tight junction IDA
Inferred from Direct Assay
more info
PubMed 
cell-cell contact zone IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome HDA PubMed 
plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
recycling endosome membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ras-related protein Rap-2c
Names
small GTPase RAP2C

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_001271186.2NP_001258115.1  ras-related protein Rap-2c isoform 1 precursor

    See identical proteins and their annotated locations for NP_001258115.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AY298955, BC035382, BX399437, DB252216
    Consensus CDS
    CCDS14632.1
    UniProtKB/Swiss-Prot
    Q9Y3L5
    Related
    ENSP00000359911.1, ENST00000370874.2
    Conserved Domains (1) summary
    cd04176
    Location:3165
    Rap2; Rap2 family GTPase consists of Rap2a, Rap2b, and Rap2c
  2. NM_001271187.1NP_001258116.1  ras-related protein Rap-2c isoform 2

    See identical proteins and their annotated locations for NP_001258116.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate 5' structure, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AK310997, AY298955, BI767215, BX399437, CN308919, DB535605
    Consensus CDS
    CCDS76024.1
    UniProtKB/Swiss-Prot
    Q9Y3L5
    UniProtKB/TrEMBL
    A0A087X2C3
    Related
    ENSP00000484870.1, ENST00000620646.4
    Conserved Domains (1) summary
    cl21455
    Location:199
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  3. NM_021183.5NP_067006.3  ras-related protein Rap-2c isoform 1 precursor

    See identical proteins and their annotated locations for NP_067006.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AY298955
    Consensus CDS
    CCDS14632.1
    UniProtKB/Swiss-Prot
    Q9Y3L5
    Related
    ENSP00000340274.2, ENST00000342983.6
    Conserved Domains (1) summary
    cd04176
    Location:3165
    Rap2; Rap2 family GTPase consists of Rap2a, Rap2b, and Rap2c

RNA

  1. NR_073150.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate 5' exon structure, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
    Source sequence(s)
    AK310997, AY298955, BI767215

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    132203024..132219480 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011531376.1XP_011529678.1  ras-related protein Rap-2c isoform X1

    See identical proteins and their annotated locations for XP_011529678.1

    UniProtKB/Swiss-Prot
    Q9Y3L5
    Conserved Domains (1) summary
    cd04176
    Location:3165
    Rap2; Rap2 family GTPase consists of Rap2a, Rap2b, and Rap2c
  2. XM_006724775.2XP_006724838.1  ras-related protein Rap-2c isoform X2

    See identical proteins and their annotated locations for XP_006724838.1

    UniProtKB/TrEMBL
    A0A087X2C3
    Conserved Domains (1) summary
    cl21455
    Location:199
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

RNA

  1. XR_430548.1 RNA Sequence

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