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Rapgef2 Gene Detail
Summary
  • Symbol
    Rapgef2
  • Name
    Rap guanine nucleotide exchange factor (GEF) 2
  • Synonyms
    5830453M24Rik, CNRasGEF, mKIAA0313, nRapGEP, Pdzgef1, RA-GEF-1
  • Feature Type
    protein coding gene
  • IDs
    MGI:2659071
    NCBI Gene: 76089
  • Gene Overview
    MyGene.info: RAPGEF2
Location & Maps
more
  • Sequence Map
    Chr3:79062516-79286517 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      224002 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RAPGEF2, Rap guanine nucleotide exchange factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    RAPGEF2, Rap guanine nucleotide exchange factor 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CNrasGEF, nRap GEP, NRAPGEP, PDZGEF1, PDZ-GEF1, RA-GEF, RA-GEF-1, Rap-GEP
  • Links
    NCBI Gene ID: 9693
    neXtProt AC: NX_Q9Y4G8

  • Chr Location
    4q32.1; chr4:159104071-159360162 (+)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    38 phenotypes from 3 alleles in 5 genetic backgrounds
    14 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    20
  • Chemically induced (other)
    1
  • Gene trapped
    12
  • Radiation induced
    1
  • Targeted
    6
  • Genomic Mutations
    2 involving Rapgef2
  • Incidental Mutations
Homozygotes for a null allele die at mid-gestation exhibiting growth arrest and defects in vascular development, neural tube closure and embryo turning. Homozygotes for another null allele show yolk sac vascular defects, impaired cell physiology and heart, primitive gut, liver and brain formation.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031912 VEGA Gene Model | MGI Sequence Detail 224002 C57BL/6J ±  kb
transcript OTTMUST00000131132 VEGA | MGI Sequence Detail 6964 Not Applicable  
polypeptide OTTMUSP00000070181 VEGA | MGI Sequence Detail 1644 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    1863 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000013727 rap guanine nucleotide exchange factor 2
  • InterPro Domains
    IPR000595 Cyclic nucleotide-binding domain
    IPR018490 Cyclic nucleotide-binding-like
    IPR001478 PDZ domain
    IPR030739 Rap guanine nucleotide exchange factor 2
    IPR000159 Ras-associating (RA) domain
    IPR023578 Ras guanine nucleotide exchange factor domain
    IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
    IPR000651 Ras-like guanine nucleotide exchange factor, N-terminal
    IPR014710 RmlC-like jelly roll fold
    IPR029071 Ubiquitin-related domain
Molecular
Reagents
less
  • All nucleic 8
    cDNA 7
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:1923339
References
more
  • Summaries
    All 39
    Developmental Gene Expression 4
    Gene Ontology 10
    Phenotypes 14
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:217266 Monteiro AC, et al., JAM-A associates with ZO-2, afadin, and PDZ-GEF1 to activate Rap2c and regulate epithelial barrier function. Mol Biol Cell. 2013 Sep;24(18):2849-60

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/26/2016
MGI 6.03
The Jackson Laboratory