Arhgef6 MGI Mouse Gene Detail - MGI:1920591 - Rac/Cdc42 guanine nucleotide exchange factor 6

Symbol

Arhgef6
Name

Rac/Cdc42 guanine nucleotide exchange factor 6
Synonyms

1600028C08Rik, 1700038J06Rik, 4930592P22Rik, alpha-PIX

Feature Type

protein coding gene
IDs

MGI:1920591
NCBI Gene: 73341
Alliance

gene page
Transcription Start Sites

18 TSS

Sequence Map

ChrX:56276845-56384089 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 31.26 cM
Mapping Data

2 experiments

SNPs within 2kb

2088 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1920591	protein coding gene	ChrX:56276845-56384119 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0035747	protein coding gene	ChrX:52557780-52670560 (-)
A/J	MGP_AJ_G0035730	protein coding gene	ChrX:52754920-52864512 (-)
AKR/J	MGP_AKRJ_G0035650	protein coding gene	ChrX:54152314-54264907 (-)
BALB/cJ	MGP_BALBcJ_G0035717	protein coding gene	ChrX:52200958-52309015 (-)
C3H/HeJ	MGP_C3HHeJ_G0035419	protein coding gene	ChrX:53086942-53199525 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0036246	protein coding gene	ChrX:53947549-54058527 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0033097	protein coding gene	ChrX:52157390-52264287 (-)
CAST/EiJ	MGP_CASTEiJ_G0034712	protein coding gene	ChrX:38978528-39094026 (-)
CBA/J	MGP_CBAJ_G0035394	protein coding gene	ChrX:55529462-55647560 (-)
DBA/2J	MGP_DBA2J_G0035548	protein coding gene	ChrX:52330637-52437876 (-)
FVB/NJ	MGP_FVBNJ_G0035498	protein coding gene	ChrX:51924854-52036666 (-)
LP/J	MGP_LPJ_G0035636	protein coding gene	ChrX:53141631-53251249 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035534	protein coding gene	ChrX:57077190-57188520 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036262	protein coding gene	ChrX:52585839-52694179 (-)
PWK/PhJ	MGP_PWKPhJ_G0034408	protein coding gene	ChrX:37247532-37355357 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0034252	protein coding gene	ChrX:39731845-39844699 (-)
WSB/EiJ	MGP_WSBEiJ_G0034855	protein coding gene	ChrX:52127263-52238098 (-)

Human Ortholog

ARHGEF6, Rac/Cdc42 guanine nucleotide exchange factor 6

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

ARHGEF6, Rac/Cdc42 guanine nucleotide exchange factor 6
Synonyms

alpha-PIX, alphaPIX, Cool-2, COOL2, MRX46, PIXA
Links

HGNC:685

NCBI Gene ID: 9459

neXtProt AC: NX_Q15052

UniProt: Q15052
Chr Location

Xq26.3; chrX:136665547-136780932 (-) GRCh38

MGI Vertebrate Homology

Arhgef6 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: ARHGEF6
Gene Tree

Arhgef6

Diseases

1 with human ARHGEF6 associations

				Human Disease	Mouse Models
				intellectual disability IDs intellectual disability DOID:1059 NCI:C84392 UMLS_CUI:C0025362

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

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Phenotype Summary

22 phenotypes from 3 alleles in 3 genetic backgrounds
14 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

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.

All Mutations and Alleles

10
Endonuclease-mediated

2
Gene trapped

1
Targeted

7
Incidental Mutations

CvDC
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype
Recombinase Activity

Comparison Matrix Gene Expression + Recombinase Activity

Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects.

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All GO Annotations

10
GO References

5

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.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

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

716
Tissues

7
cDNA Data

53
Literature Summary

4

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GENSAT

GEO

Expression Atlas
Other Vertebrate Links

GEISHA ARHGEF6

ZFIN arhgef6

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All Sequences

77
RefSeq

28
UniProt

5
CCDS

CCDS40984.2

Ensembl

ENSMUSG00000031133 (Evidence)
NCBI Gene

73341

			Length	Strain/Species	Flank
genomic	ENSMUSG00000031133	Ensembl Gene Model \| MGI Sequence Detail	107245	C57BL/6J	± kb
transcript	ENSMUST00000033468	Ensembl \| MGI Sequence Detail	4569	Not Applicable
polypeptide	ENSMUSP00000033468	Ensembl \| MGI Sequence Detail	771	Not Applicable

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UniProt

5 Sequences
Protein Ontology

PR:000004259 Rho guanine nucleotide exchange factor 6

(term hierarchy)
PDB

1V61
InterPro Domains

IPR001715 Calponin homology domain

IPR036872 CH domain superfamily

IPR000219 Dbl homology (DH) domain

IPR035899 Dbl homology (DH) domain superfamily

IPR001331 Guanine-nucleotide dissociation stimulator, CDC24, conserved site

IPR011993 PH-like domain superfamily

IPR001849 Pleckstrin homology domain

IPR046376 RhoGEF 6/7, PH domain

IPR032409 Rho guanine nucleotide exchange factor 6/7, coiled-coil domain

IPR035788 Rho guanine nucleotide exchange factor 6, SH3 domain

IPR001452 SH3 domain

IPR036028 SH3-like domain superfamily

IPR003096 Smooth muscle protein/calponin
GlyGen

Q8K4I3 1 site, 1 O-linked glycan (1 site)

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All nucleic 56

Genomic 1

cDNA 54

Primer pair 1

Microarray probesets 5

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MGI:1923183, MGI:1923947

Summaries

All 45

Developmental Gene Expression 4

Gene Ontology 5

Phenotypes 14
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:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

TSS for Arhgef6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr163453	ChrX:56384595-56384600 (-)	-509 bp
Tssr163452	ChrX:56384097-56384141 (-)	-30 bp
Tssr163451	ChrX:56383958-56383970 (-)	125 bp
Tssr163450	ChrX:56383873-56383943 (-)	181 bp
Tssr163449	ChrX:56383859-56383872 (-)	223 bp
Tssr163448	ChrX:56372115-56372139 (-)	11,962 bp
Tssr163447	ChrX:56372046-56372072 (-)	12,030 bp
Tssr163446	ChrX:56371953-56372042 (-)	12,091 bp
Tssr163445	ChrX:56371633-56371672 (-)	12,436 bp
Tssr163444	ChrX:56371587-56371609 (-)	12,491 bp
Tssr163443	ChrX:56371508-56371566 (-)	12,552 bp
Tssr163442	ChrX:56350510-56350532 (-)	33,568 bp
Tssr163441	ChrX:56350426-56350470 (-)	33,641 bp
Tssr163440	ChrX:56350394-56350405 (-)	33,689 bp
Tssr163439	ChrX:56350338-56350347 (-)	33,746 bp
Tssr163438	ChrX:56350249-56350258 (-)	33,835 bp
Tssr163437	ChrX:56350197-56350248 (-)	33,866 bp
Tssr163436	ChrX:56326951-56326956 (-)	57,135 bp

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 Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24