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Arfgef2 Gene Detail
Summary
  • Symbol
    Arfgef2
  • Name
    ADP ribosylation factor guanine nucleotide exchange factor 2
  • Synonyms
    BIG2, E230011G24Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2139354
    NCBI Gene: 99371
  • Alliance
    gene page
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:166647508-166739972 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 87.22 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    461 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2139354
 protein coding gene Chr2:166647371-166739972 (+)
129S1/SvImJ MGP_129S1SvImJ_G0026903
 protein coding gene Chr2:172488525-172581367 (+)
A/J MGP_AJ_G0026870
 protein coding gene Chr2:165406847-165499443 (+)
AKR/J MGP_AKRJ_G0026841
 protein coding gene Chr2:170327029-170420927 (+)
BALB/cJ MGP_BALBcJ_G0026879
 protein coding gene Chr2:165756626-165847437 (+)
C3H/HeJ MGP_C3HHeJ_G0026621
 protein coding gene Chr2:170688585-170785375 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027326
 protein coding gene Chr2:177498944-177597757 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0024697
 protein coding gene Chr2:158741265-158828505 (+)
CAST/EiJ MGP_CASTEiJ_G0026079
 protein coding gene Chr2:171150354-171248351 (+)
CBA/J MGP_CBAJ_G0026598
 protein coding gene Chr2:184003707-184113358 (+)
DBA/2J MGP_DBA2J_G0026736
 protein coding gene Chr2:164536997-164622626 (+)
FVB/NJ MGP_FVBNJ_G0026702
 protein coding gene Chr2:163035260-163120794 (+)
LP/J MGP_LPJ_G0026837
 protein coding gene Chr2:172516934-172612099 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0026721
 protein coding gene Chr2:187410287-187512603 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027383
 protein coding gene Chr2:170228568-170319856 (+)
PWK/PhJ MGP_PWKPhJ_G0025816
 protein coding gene Chr2:164172099-164260596 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025617
 protein coding gene Chr2:169182752-169270206 (+)
WSB/EiJ MGP_WSBEiJ_G0026152
 protein coding gene Chr2:171141623-171234470 (+)



Homology
more
  • Human Ortholog
    ARFGEF2, ADP ribosylation factor guanine nucleotide exchange factor 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ARFGEF2, ADP ribosylation factor guanine nucleotide exchange factor 2
  • Synonyms
    BIG2, dJ1164I10.1, PVNH2
  • Links
    NCBI Gene ID: 10564
    neXtProt AC: NX_Q9Y6D5
    UniProt: Q9Y6D5

  • Chr Location
    20q13.13; chr20:48921711-49036693 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with human ARFGEF2 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
    7 phenotypes from 2 alleles in 2 genetic backgrounds
    9 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 knock-out allele exhibit exencephaly, midline gut closure defects, periventricular and subependymal heterotopia, and impaired neuronal migration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    49
  • GO References
    7
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
non-membrane-bounded 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
    749
  • Tissues
    31
  • cDNA Data
    15
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000074582 Ensembl Gene Model | MGI Sequence Detail 92465 C57BL/6J ±  kb
    transcript ENSMUST00000099078 Ensembl | MGI Sequence Detail 8770 Not Applicable  
    polypeptide ENSMUSP00000096677 Ensembl | MGI Sequence Detail 1792 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 15
      Primer pair 1
      Other 1

      Microarray probesets 10
    Other
    Accession IDs
    less
    MGI:2138973, MGI:2443566
    References
    more
    • Summaries
      All 40
      Developmental Gene Expression 6
      Gene Ontology 7
      Phenotypes 9
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:306456 Farini D, et al., A Dynamic Splicing Program Ensures Proper Synaptic Connections in the Developing Cerebellum. Cell Rep. 2020 Jun 2;31(9):107703
    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
    04/16/2024
    MGI 6.23     		The Jackson Laboratory