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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
  • Alliance
    gene page
  • Transcription Start Sites
    77 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:78969823-79193824 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 34.91 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    6001 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2659071
 protein coding gene Chr3:78969818-79194681 (-)
129S1/SvImJ MGP_129S1SvImJ_G0027310
 protein coding gene Chr3:78707339-78952059 (-)
A/J MGP_AJ_G0027272
 protein coding gene Chr3:76165194-76397999 (-)
AKR/J MGP_AKRJ_G0027240
 protein coding gene Chr3:77905339-78146004 (-)
BALB/cJ MGP_BALBcJ_G0027283
 protein coding gene Chr3:76187894-76425047 (-)
C3H/HeJ MGP_C3HHeJ_G0027027
 protein coding gene Chr3:78253763-78485038 (-)
C57BL/6NJ MGP_C57BL6NJ_G0027729
 protein coding gene Chr3:81734561-81990623 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025082
 protein coding gene Chr3:71811787-72038095 (-)
CAST/EiJ MGP_CASTEiJ_G0026474
 protein coding gene Chr3:78302191-78537026 (-)
CBA/J MGP_CBAJ_G0027002
 protein coding gene Chr3:84429947-84687062 (-)
DBA/2J MGP_DBA2J_G0027138
 protein coding gene Chr3:75732065-75958467 (-)
FVB/NJ MGP_FVBNJ_G0027106
 protein coding gene Chr3:74057640-74299580 (-)
LP/J MGP_LPJ_G0027246
 protein coding gene Chr3:79695215-79938529 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0027125
 protein coding gene Chr3:90718606-90963606 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0027787
 protein coding gene Chr3:77740732-77985744 (-)
PWK/PhJ MGP_PWKPhJ_G0026208
 protein coding gene Chr3:75526746-75701004 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026024
 protein coding gene Chr3:76936969-77135488 (-)
WSB/EiJ MGP_WSBEiJ_G0026552
 protein coding gene Chr3:78125436-78319595 (-)



Homology
more
  • Human Ortholog
    RAPGEF2, Rap guanine nucleotide exchange factor 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAPGEF2, Rap guanine nucleotide exchange factor 2
  • Synonyms
    CNrasGEF, nRap GEP, NRAPGEP, PDZ-GEF1, PDZGEF1, RA-GEF, RAGEF, RA-GEF-1, Rap-GEP
  • Links
    NCBI Gene ID: 9693
    neXtProt AC: NX_Q9Y4G8
    UniProt: Q9Y4G8

  • Chr Location
    4q32.1; chr4:159103013-159360174 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RAPGEF2 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    43 phenotypes from 4 alleles in 6 genetic backgrounds
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
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
less
  • All GO Annotations
    116
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    730
  • Tissues
    9
  • cDNA Data
    8
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000062232 Ensembl Gene Model | MGI Sequence Detail 224002 C57BL/6J ±  kb
    transcript ENSMUST00000195708 Ensembl | MGI Sequence Detail 6964 Not Applicable  
    polypeptide ENSMUSP00000141542 Ensembl | MGI Sequence Detail 1644 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000013727 Rap guanine nucleotide exchange factor 2
      (term hierarchy)
    • InterPro Domains
      IPR000595 Cyclic nucleotide-binding domain
      IPR018490 Cyclic nucleotide-binding domain superfamily
      IPR001478 PDZ domain
      IPR036034 PDZ superfamily
      IPR000159 Ras-associating domain
      IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      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-like domain superfamily
    • GlyGen
      Q8CHG7 9 sites, 2 N-linked glycans (3 sites), 1 O-linked glycan (6 sites)
    Molecular
    Reagents
    less
    • All nucleic 9
      cDNA 8
      Primer pair 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:1923339
    References
    more
    • Summaries
      All 57
      Developmental Gene Expression 6
      Diseases 1
      Gene Ontology 12
      Phenotypes 24
    • 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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory