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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
  • Alliance
    gene page
  • Transcription Start Sites
    27 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:54413673-54590111 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 11, 32.13 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2639 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2384761
 protein coding gene Chr11:54413630-54590112 (+)
129S1/SvImJ MGP_129S1SvImJ_G0018317
 protein coding gene Chr11:54000958-54177743 (+)
A/J MGP_AJ_G0018286
 protein coding gene Chr11:51986025-52159176 (+)
AKR/J MGP_AKRJ_G0018255
 protein coding gene Chr11:53691502-53869637 (+)
BALB/cJ MGP_BALBcJ_G0018257
 protein coding gene Chr11:52328583-52504035 (+)
C3H/HeJ MGP_C3HHeJ_G0018068
 protein coding gene Chr11:53621954-53800189 (+)
C57BL/6NJ MGP_C57BL6NJ_G0018709
 protein coding gene Chr11:55660688-55840004 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0016359
 protein coding gene Chr11:49430505-49605948 (+)
CAST/EiJ MGP_CASTEiJ_G0017633
 protein coding gene Chr11:53673122-53849363 (+)
CBA/J MGP_CBAJ_G0018043
 protein coding gene Chr11:58286637-58478977 (+)
DBA/2J MGP_DBA2J_G0018152
 protein coding gene Chr11:51696855-51869602 (+)
FVB/NJ MGP_FVBNJ_G0018144
 protein coding gene Chr11:51344164-51523506 (+)
LP/J MGP_LPJ_G0018227
 protein coding gene Chr11:54453922-54630410 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0018170
 protein coding gene Chr11:59512763-59699936 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0018751
 protein coding gene Chr11:53700350-53879601 (+)
PWK/PhJ MGP_PWKPhJ_G0017406
 protein coding gene Chr11:52236880-52412733 (+)
SPRET/EiJ MGP_SPRETEiJ_G0017201
 protein coding gene Chr11:53483201-53662001 (+)
WSB/EiJ MGP_WSBEiJ_G0017681
 protein coding gene Chr11:53339595-53515439 (+)



Homology
more
  • Human Ortholog
    RAPGEF6, Rap guanine nucleotide exchange factor 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    RAPGEF6, Rap guanine nucleotide exchange factor 6
  • Synonyms
    KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2
  • Links
    NCBI Gene ID: 51735
    neXtProt AC: NX_Q8TEU7
    UniProt: Q8TEU7

  • Chr Location
    5q31.1; chr5:131423921-131635231 (-)  GRCh38
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    11 phenotypes from 1 allele in 2 genetic backgrounds
    17 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 an inlarged spleen, increased IgE and IgG levels and altered cytokine production.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    17
  • GO References
    2
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
    794
  • Tissues
    15
  • cDNA Data
    116
  • Literature Summary
    5
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000037533 Ensembl Gene Model | MGI Sequence Detail 176439 C57BL/6J ±  kb
    transcript ENSMUST00000101206 Ensembl | MGI Sequence Detail 5864 Not Applicable  
    polypeptide ENSMUSP00000098766 Ensembl | MGI Sequence Detail 1609 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      18 Sequences
    • 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
      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
    • GlyGen
      Q5NCJ0 1 site, 1 N-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 118
      cDNA 116
      Primer pair 2

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924777, MGI:2144285, MGI:2144597
    References
    more
    • Summaries
      All 44
      Developmental Gene Expression 5
      Gene Ontology 2
      Phenotypes 17
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:319394 Ishihara S, et al., Phosphatidic acid-dependent localization and basal de-phosphorylation of RA-GEFs regulate lymphocyte trafficking. BMC Biol. 2020 Jun 29;18(1):75
    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