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Rapgef6 Gene Detail
Summary
  • Symbol
    Rapgef6
  • Name
    Rap guanine nucleotide exchange factor (GEF) 6
  • Synonyms
    C030018K18Rik, Pdzgef2, PDZ-GEF2, RA-GEF-2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2384761
    NCBI Gene: 192786
  • Gene Overview
    MyGene.info: RAPGEF6
Location & Maps
more
  • Sequence Map
    Chr11:54522847-54699285 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      176439 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    RAPGEF6, Rap guanine nucleotide exchange factor 6
  • Vertebrate Orthologs
    9
  • Human Ortholog
    RAPGEF6, Rap guanine nucleotide exchange factor 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    KIA001LB, PDZGEF2, PDZ-GEF2, RAGEF2, RA-GEF-2
  • Links
    NCBI Gene ID: 51735
    neXtProt AC: NX_Q8TEU7

  • Chr Location
    5q31.1; chr5:131423921-131635236 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    11 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
    24
  • Chemically induced (other)
    1
  • Gene trapped
    18
  • Targeted
    5
  • Genomic Mutations
    1 involving Rapgef6
  • Incidental Mutations
Mice homozygous for a null allele exhibit an inlarged spleen, increased IgE and IgG levels and altered cytokine production.
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 OTTMUSG00000005672 VEGA Gene Model | MGI Sequence Detail 176439 C57BL/6J ±  kb
transcript OTTMUST00000012624 VEGA | MGI Sequence Detail 5864 Not Applicable  
polypeptide OTTMUSP00000005849 VEGA | MGI Sequence Detail 1609 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    390 from dbSNP Build 142
Protein
Information
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  • UniProt
    16 Sequences
  • InterPro Domains
    IPR000595 Cyclic nucleotide-binding domain
    IPR018490 Cyclic nucleotide-binding-like
    IPR001478 PDZ domain
    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
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  • All nucleic 114
    cDNA 113
    Primer pair 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1924777, MGI:2144285, MGI:2144597
References
more
  • Summaries
    All 33
    Developmental Gene Expression 3
    Gene Ontology 1
    Phenotypes 11
  • 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:221584 Quesnel-Vallieres M, et al., Essential roles for the splicing regulator nSR100/SRRM4 during nervous system development. Genes Dev. 2015 Apr 1;29(7):746-59

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory