Arhgef2 Gene Detail

Summary

• Symbol
  Arhgef2
• Name
  Rho/Rac guanine nucleotide exchange factor 2
• Synonyms
  GEF-H1, GEFH1, Lbcl1, Lfc, LFP40, mKIAA0651, P40

• Feature Type
  protein coding gene
• IDs
  MGI:103264
  NCBI Gene: 16800
• Alliance
  gene page
• Transcription Start Sites
  34 TSS

Location &
Maps

• Sequence Map
  Chr3:88513273-88555359 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 3, 38.90 cM, cytoband F1
• Mapping Data
  3 experiments

Strain
Comparison

• SNPs within 2kb
  946 from dbSNP Build 142
• Strain Annotations
  18

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_103264	protein coding gene	Chr3:88500427-88556839 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0027404	protein coding gene	Chr3:88782447-88827233 (+)
A/J	MGP_AJ_G0027368	protein coding gene	Chr3:85785357-85826705 (+)
AKR/J	MGP_AKRJ_G0027332	protein coding gene	Chr3:87900864-87944526 (+)
BALB/cJ	MGP_BALBcJ_G0027377	protein coding gene	Chr3:85870756-85911500 (+)
C3H/HeJ	MGP_C3HHeJ_G0027119	protein coding gene	Chr3:88161896-88203238 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0027823	protein coding gene	Chr3:92086359-92129256 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025175	protein coding gene	Chr3:81389362-81435210 (+)
CAST/EiJ	MGP_CASTEiJ_G0026565	protein coding gene	Chr3:88396900-88441491 (+)
CBA/J	MGP_CBAJ_G0027093	protein coding gene	Chr3:95254769-95296856 (+)
DBA/2J	MGP_DBA2J_G0027231	protein coding gene	Chr3:85268487-85309283 (+)
FVB/NJ	MGP_FVBNJ_G0027199	protein coding gene	Chr3:83538372-83579858 (+)
LP/J	MGP_LPJ_G0027340	protein coding gene	Chr3:89794589-89839935 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027219	protein coding gene	Chr3:101460898-101502221 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0027882	protein coding gene	Chr3:87649161-87691178 (+)
PWK/PhJ	MGP_PWKPhJ_G0026299	protein coding gene	Chr3:85050608-85092330 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0026118	protein coding gene	Chr3:86831348-86877132 (+)
WSB/EiJ	MGP_WSBEiJ_G0026647	protein coding gene	Chr3:88004031-88048077 (+)

Homology

• Human Ortholog
  ARHGEF2, Rho/Rac guanine nucleotide exchange factor 2

• Vertebrate Orthologs
  4

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  ARHGEF2, Rho/Rac guanine nucleotide exchange factor 2
  
• Synonyms
  GEF, GEF-H1, GEFH1, Lfc, LFP40, NEDMHM, P40
• Links
  HGNC:682

  NCBI Gene ID: 9181

  neXtProt AC: NX_Q92974

  UniProt: Q92974

  
  
• Chr Location
  1q22; chr1:155946851-156007070 (-)  GRCh38

---

• MGI Vertebrate Homology
  Arhgef2 stringent orthology
  1 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: ARHGEF2
• Gene Tree
  Arhgef2
  

Human Diseases

• Diseases
  1 with Arhgef2 mouse models; 1 with human ARHGEF2 associations

Human Disease

Mouse Models

neurodevelopmental disorder with midbrain and hindbrain malformations

IDs

neurodevelopmental disorder with midbrain and hindbrain malformations      

DOID:0080312
OMIM:617523

View 1 model

Mouse Models

Human Disease Modeled: neurodevelopmental disorder with midbrain and hindbrain malformations

Allelic Composition	Genetic Background	Reference	Phenotypes
Arhgef2Gt(IST13976A8)Tigm/Arhgef2Gt(IST13976A8)Tigm	involves: C57BL/6N	J:242973	View

Click on a disease name to see all genes associated with that disease.

• Mutations/Alleles
  1 with disease annotations

• References
  2 with disease annotations

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  20 phenotypes from 2 alleles in 2 genetic backgrounds
  29 phenotype references
  

• All Mutations and Alleles
  42
• Chemically induced (other)
  1
• Endonuclease-mediated
  4
• Gene trapped
  31
• Radiation induced
  1
• Targeted
  5
• Genomic Mutations
  2 involving Arhgef2
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  76 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mice homozygous for a gene trap allele exhibit impaired response to viral infection.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  75
• GO References
  14

Expression

• Assay Results
  744
• Tissues
  25
• cDNA Data
  12
• Literature Summary
  4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase arhgef2
  ZFIN arhgef2a

Sequences &
Gene Models

• All Sequences
  139
• RefSeq
  34
• UniProt
  14
• CCDS
  CCDS17481.1, CCDS57220.1, CCDS57221.1, CCDS57222.1

• Ensembl
  ENSMUSG00000028059 (Evidence)
• NCBI Gene
  16800

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000028059	Ensembl Gene Model | MGI Sequence Detail	42087	C57BL/6J
transcript	ENSMUST00000175903	Ensembl | MGI Sequence Detail	3700	Not Applicable
polypeptide	ENSMUSP00000135168	Ensembl | MGI Sequence Detail	1183	Not Applicable

Protein
Information

• UniProt
  14 Sequences
• Protein Ontology
  PR:000004255 Rho guanine nucleotide exchange factor 2
  (term hierarchy)
• PDB
  5WI4
• InterPro Domains
  IPR041020 ARHGEF1-like, PH domain
  IPR037806 ARHGEF2, PH domain
  IPR046349 C1-like domain superfamily
  IPR000219 Dbl homology (DH) domain
  IPR035899 Dbl homology (DH) domain superfamily
  IPR011993 PH-like domain superfamily
  IPR001849 Pleckstrin homology domain
  IPR002219 Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
  IPR051632 Rho guanine nucleotide exchange factor
• GlyGen
  Q60875 3 sites, 2 N-linked glycans (2 sites), 1 O-linked glycan (1 site)

Molecular
Reagents

• All nucleic 15

  cDNA 13

  Primer pair 1

  Other 1

  
  

  Microarray probesets 6

Other
Accession IDs

MGD-MRK-24143, MGI:2139563

References

• Summaries
  All 75

  Developmental Gene Expression 4

  Diseases 2

  Gene Ontology 14

  Phenotypes 29
• Earliest
  J:27762 Whitehead I, et al., Expression cloning of lfc, a novel oncogene with structural similarities to guanine nucleotide exchange factors and to the regulatory region of protein kinase C. J Biol Chem. 1995 Aug 4;270(31):18388-95
• Latest
  J:346014 Olivier JF, et al., CCDC88B interacts with RASAL3 and ARHGEF2 and regulates dendritic cell function in neuroinflammation and colitis. Commun Biol. 2024 Jan 10;7(1):77

TSS for Arhgef2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr29981	Chr3:88514434-88514506 (+)	1,197 bp
Tssr29982	Chr3:88514525-88514542 (+)	1,261 bp
Tssr29983	Chr3:88514745-88514775 (+)	1,487 bp
Tssr29984	Chr3:88514780-88514786 (+)	1,510 bp
Tssr29985	Chr3:88514789-88514792 (+)	1,518 bp
Tssr29986	Chr3:88514814-88514827 (+)	1,548 bp
Tssr29987	Chr3:88514842-88514850 (+)	1,573 bp
Tssr29988	Chr3:88514944-88514974 (+)	1,686 bp
Tssr29989	Chr3:88515049-88515064 (+)	1,784 bp
Tssr29990	Chr3:88517051-88517065 (+)	3,785 bp
Tssr29991	Chr3:88519267-88519273 (+)	5,997 bp
Tssr29992	Chr3:88522711-88522741 (+)	9,453 bp
Tssr29993	Chr3:88522751-88522777 (+)	9,491 bp
Tssr29994	Chr3:88523440-88523458 (+)	10,176 bp
Tssr29995	Chr3:88523501-88523555 (+)	10,255 bp
Tssr29996	Chr3:88523591-88523600 (+)	10,323 bp
Tssr936	Chr3:88523730-88523745 (+)	10,465 bp
Tssr29997	Chr3:88527739-88527747 (+)	14,470 bp
Tssr29998	Chr3:88528409-88528437 (+)	15,150 bp
Tssr29999	Chr3:88528451-88528480 (+)	15,193 bp
Tssr30000	Chr3:88528510-88528521 (+)	15,243 bp
Tssr30001	Chr3:88528581-88528592 (+)	15,314 bp
Tssr30002	Chr3:88528766-88528846 (+)	15,533 bp
Tssr30003	Chr3:88529141-88529181 (+)	15,888 bp
Tssr30004	Chr3:88529222-88529247 (+)	15,962 bp
Tssr30005	Chr3:88532878-88532883 (+)	19,608 bp
Tssr30006	Chr3:88533818-88533846 (+)	20,559 bp
Tssr30007	Chr3:88536770-88536786 (+)	23,505 bp
Tssr30008	Chr3:88536806-88536817 (+)	23,539 bp
Tssr30009	Chr3:88552081-88552092 (+)	38,814 bp
Tssr30010	Chr3:88554169-88554195 (+)	40,909 bp
Tssr30011	Chr3:88554221-88554233 (+)	40,954 bp
Tssr30012	Chr3:88554719-88554739 (+)	41,456 bp
Tssr30013	Chr3:88555037-88555051 (+)	41,771 bp