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Rapgef4 Gene Detail
Summary
  • Symbol
    Rapgef4
  • Name
    Rap guanine nucleotide exchange factor (GEF) 4
  • Synonyms
    1300003D15Rik, 5730402K07Rik, 6330581N18Rik, cAMP-GEFII, Epac2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1917723
    NCBI Gene: 56508
  • Alliance
    gene page
  • Transcription Start Sites
    27 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:71811584-72087818 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 42.90 cM, cytoband C3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    7576 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1917723
 protein coding gene Chr2:71811559-72087818 (+)
129S1/SvImJ MGP_129S1SvImJ_G0025828
 protein coding gene Chr2:72150945-72440244 (+)
A/J MGP_AJ_G0025806
 protein coding gene Chr2:69317495-69598312 (+)
AKR/J MGP_AKRJ_G0025774
 protein coding gene Chr2:71236879-71532365 (+)
BALB/cJ MGP_BALBcJ_G0025800
 protein coding gene Chr2:69515723-69802550 (+)
C3H/HeJ MGP_C3HHeJ_G0025560
 protein coding gene Chr2:71436538-71721054 (+)
C57BL/6NJ MGP_C57BL6NJ_G0026247
 protein coding gene Chr2:74326562-74617945 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023650
 protein coding gene Chr2:66533461-66832361 (+)
CAST/EiJ MGP_CASTEiJ_G0025024
 protein coding gene Chr2:71637042-71927099 (+)
CBA/J MGP_CBAJ_G0025541
 protein coding gene Chr2:77035532-77355229 (+)
DBA/2J MGP_DBA2J_G0025672
 protein coding gene Chr2:68950482-69226887 (+)
FVB/NJ MGP_FVBNJ_G0025634
 protein coding gene Chr2:68357302-68636074 (+)
LP/J MGP_LPJ_G0025760
 protein coding gene Chr2:72035462-72324440 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025665
 protein coding gene Chr2:79018277-79316505 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0026304
 protein coding gene Chr2:71323802-71606765 (+)
PWK/PhJ MGP_PWKPhJ_G0024765
 protein coding gene Chr2:68831644-69112620 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024573
 protein coding gene Chr2:71513343-71808809 (+)
WSB/EiJ MGP_WSBEiJ_G0025092
 protein coding gene Chr2:71766064-72058167 (+)



Homology
more
  • Human Ortholog
    RAPGEF4, Rap guanine nucleotide exchange factor 4
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAPGEF4, Rap guanine nucleotide exchange factor 4
  • Synonyms
    CAMP-GEFII, CGEF2, EPAC, EPAC 2, EPAC2, Nbla00496
  • Links
    NCBI Gene ID: 11069
    neXtProt AC: NX_Q8WZA2
    UniProt: Q8WZA2

  • Chr Location
    2q31.1; chr2:172735274-173052893 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human RAPGEF4 associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    8 phenotypes from 4 alleles in 4 genetic backgrounds
    2 phenotypes from multigenic genotypes
    54 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.
Mice homozygous for a null allele exhibit decreased insulin granule fusion in pancreatic islet cells during the first phase of cAMP-dependent insulin granule exocytosis. Mice homozygous for a knock-out allele exhibit impaired isoproterenol-induced SR calcium leak and arrhythmia.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    52
  • GO References
    13
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
    768
  • Tissues
    20
  • cDNA Data
    48
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000049044 Ensembl Gene Model | MGI Sequence Detail 276235 C57BL/6J ±  kb
    transcript ENSMUST00000090826 Ensembl | MGI Sequence Detail 4181 Not Applicable  
    polypeptide ENSMUSP00000088336 Ensembl | MGI Sequence Detail 1011 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      5 Sequences
    • Protein Ontology
      PR:000013729 Rap guanine nucleotide exchange factor 4
      (term hierarchy)
    • PDB
      1O7F, 2BYV, 3CF6, 4F7Z, 4MGI, 4MGK, 4MGY, 4MGZ, 4MH0
    • InterPro Domains
      IPR000595 Cyclic nucleotide-binding domain
      IPR043533 Cyclic nucleotide-binding domain-containing protein 1/2
      IPR018490 Cyclic nucleotide-binding domain superfamily
      IPR000591 DEP domain
      IPR036964 Ras guanine-nucleotide exchange factor, catalytic domain superfamily
      IPR019804 Ras guanine-nucleotide exchange factor, conserved site
      IPR023578 Ras guanine nucleotide exchange factor domain superfamily
      IPR001895 Ras guanine-nucleotide exchange factors catalytic domain
      IPR008937 Ras-like guanine nucleotide exchange factor
      IPR000651 Ras-like guanine nucleotide exchange factor, N-terminal
      IPR014710 RmlC-like jelly roll fold
      IPR029071 Ubiquitin-like domain superfamily
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
    • GlyGen
      Q9EQZ6 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 49
      cDNA 48
      Primer pair 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:1918994, MGI:2442054
    References
    more
    • Summaries
      All 104
      Developmental Gene Expression 4
      Gene Ontology 13
      Phenotypes 54
    • Earliest
      J:71886 Ozaki N, et al., cAMP-GEFII is a direct target of cAMP in regulated exocytosis. Nat Cell Biol. 2000 Nov;2(11):805-11
    • 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)
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    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