Arx (aristaless related homeobox) - Rat Genome Database

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Gene: Arx (aristaless related homeobox) Mus musculus
Analyze
Symbol: Arx
Name: aristaless related homeobox
RGD ID: 1557424
MGI Page MGI
Description: Exhibits DNA-binding transcription repressor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and chromatin binding activity. Involved in several processes, including forebrain development; positive regulation of organ growth; and regulation of gene expression. Predicted to localize to nucleus. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; skeleton; and tail. Used to study early infantile epileptic encephalopathy; lissencephaly; and syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in corpus callosum agenesis-abnormal genitalia syndrome; developmental and epileptic encephalopathy 1; intellectual disability (multiple); and lissencephaly. Orthologous to human ARX (aristaless related homeobox).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Ar; aristaless-related homeobox; Arx1; homeobox protein ARX
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: GRCm38 - Mouse Genome Assembly GRCm38
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X92,330,113 - 92,341,963 (+)NCBIGRCm39mm39
GRCm39 EnsemblX92,330,051 - 92,341,963 (+)Ensembl
GRCm38X93,286,507 - 93,298,357 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX93,286,445 - 93,298,357 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X90,531,985 - 90,543,696 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X89,539,365 - 89,551,076 (+)NCBImm8
CeleraX80,208,596 - 80,220,179 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.05NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
nucleus  (IC,ISO)

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal associative learning  (IAGP)
abnormal brain internal capsule morphology  (IAGP)
abnormal brain interneuron morphology  (IAGP)
abnormal brain wave pattern  (IAGP)
abnormal central medial nucleus morphology  (IAGP)
abnormal cerebral cortex morphology  (IAGP)
abnormal cholinergic neuron morphology  (IAGP)
abnormal corpus callosum morphology  (IAGP)
abnormal cortical marginal zone morphology  (IAGP)
abnormal cortical plate morphology  (IAGP)
abnormal cortical ventricular zone morphology  (IAGP)
abnormal dentate gyrus morphology  (IAGP)
abnormal fetal Leydig cell differentiation  (IAGP)
abnormal forebrain development  (IAGP)
abnormal gait  (IAGP)
abnormal glutaminergic neuron morphology  (IAGP)
abnormal hippocampus CA3 region morphology  (IAGP)
abnormal hippocampus CA4 region morphology  (IAGP)
abnormal hippocampus development  (IAGP)
abnormal motor capabilities/coordination/movement  (IAGP)
abnormal neocortex morphology  (IAGP)
abnormal nervous system electrophysiology  (IAGP)
abnormal nervous system tract morphology  (IAGP)
abnormal neuronal migration  (IAGP)
abnormal olfactory bulb morphology  (IAGP)
abnormal pancreatic delta cell morphology  (IAGP)
abnormal postnatal subventricular zone morphology  (IAGP)
abnormal response to social novelty  (IAGP)
abnormal social investigation  (IAGP)
abnormal somatosensory cortex morphology  (IAGP)
abnormal spatial learning  (IAGP)
abnormal spike wave discharge  (IAGP)
abnormal striatum morphology  (IAGP)
abnormal telencephalon development  (IAGP)
abnormal telencephalon morphology  (IAGP)
abnormal thalamus morphology  (IAGP)
abnormal ventral striatum morphology  (IAGP)
abnormal voluntary movement  (IAGP)
absent hippocampal commissure  (IAGP)
absent hippocampal fimbria  (IAGP)
absent pancreatic alpha cells  (IAGP)
clonic seizures  (IAGP)
convulsive seizures  (IAGP)
decreased aggression towards mice  (IAGP)
decreased anxiety-related response  (IAGP)
decreased body weight  (IAGP)
decreased brain size  (IAGP)
decreased exploration in new environment  (IAGP)
decreased fear-related response  (IAGP)
decreased neuron number  (IAGP)
decreased pancreatic beta cell number  (IAGP)
decreased survivor rate  (IAGP)
decreased thermal nociceptive threshold  (IAGP)
dehydration  (IAGP)
enhanced coordination  (IAGP)
enlarged seminiferous tubules  (IAGP)
enlarged third ventricle  (IAGP)
hyperactivity  (IAGP)
hyperglycemia  (IAGP)
hypoactivity  (IAGP)
hypoglycemia  (IAGP)
impaired balance  (IAGP)
impaired contextual conditioning behavior  (IAGP)
impaired coordination  (IAGP)
impaired cued conditioning behavior  (IAGP)
impaired passive avoidance behavior  (IAGP)
impaired spatial learning  (IAGP)
increased anxiety-related response  (IAGP)
increased exploration in new environment  (IAGP)
increased pancreatic beta cell number  (IAGP)
increased pancreatic delta cell number  (IAGP)
increased sensitivity to induced morbidity/mortality  (IAGP)
increased susceptibility to pharmacologically induced seizures  (IAGP)
increased vertical activity  (IAGP)
loss of GABAergic neurons  (IAGP)
muscle spasm  (IAGP)
myoclonus  (IAGP)
neonatal lethality, complete penetrance  (IAGP)
no abnormal phenotype detected  (IAGP)
postnatal growth retardation  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
seizures  (IAGP)
seminal vesicle hypoplasia  (IAGP)
small olfactory bulb  (IAGP)
small testis  (IAGP)
social withdrawal  (IAGP)
sporadic seizures  (IAGP)
thin cortical plate  (IAGP)
tonic seizures  (IAGP)
tonic-clonic seizures  (IAGP)
weakness  (IAGP)
References

Additional References at PubMed
PMID:9256348   PMID:9347917   PMID:10349636   PMID:10668975   PMID:10920247   PMID:11042159   PMID:11076861   PMID:11217851   PMID:11889467   PMID:11956759   PMID:12466851   PMID:12477932  
PMID:14561778   PMID:14681479   PMID:14992814   PMID:15211353   PMID:15376319   PMID:15489334   PMID:15618518   PMID:15677725   PMID:15682394   PMID:15930104   PMID:16122727   PMID:16141072  
PMID:16141073   PMID:16540508   PMID:16571605   PMID:16602821   PMID:16766712   PMID:16919269   PMID:16951258   PMID:16988001   PMID:17151600   PMID:17331656   PMID:17360442   PMID:17404619  
PMID:17460091   PMID:17609113   PMID:17803355   PMID:17932502   PMID:17953485   PMID:17988662   PMID:18054781   PMID:18058910   PMID:18094027   PMID:18287559   PMID:18509041   PMID:18554416  
PMID:18653561   PMID:18725516   PMID:18778483   PMID:18799476   PMID:18923043   PMID:18927153   PMID:19030180   PMID:19223466   PMID:19386638   PMID:19474326   PMID:19494118   PMID:19501159  
PMID:19502415   PMID:19553693   PMID:19571125   PMID:19627984   PMID:19759004   PMID:19820705   PMID:20059953   PMID:20096683   PMID:20377917   PMID:20436479   PMID:20516201   PMID:20592160  
PMID:20962046   PMID:21098568   PMID:21122108   PMID:21267068   PMID:21368052   PMID:21388963   PMID:21497756   PMID:21625468   PMID:21658586   PMID:21852533   PMID:21856296   PMID:21873635  
PMID:21880149   PMID:21880902   PMID:21966449   PMID:22056672   PMID:22108177   PMID:22120711   PMID:22387004   PMID:22565167   PMID:22570716   PMID:22628459   PMID:22696295   PMID:22745484  
PMID:22991444   PMID:23042297   PMID:23087174   PMID:23193182   PMID:23246292   PMID:23375746   PMID:23382704   PMID:23595746   PMID:23671715   PMID:23771350   PMID:23785486   PMID:23840809  
PMID:23852729   PMID:23940571   PMID:23946427   PMID:23968833   PMID:24122442   PMID:24157949   PMID:24163148   PMID:24204325   PMID:24236044   PMID:24307230   PMID:24401371   PMID:24452264  
PMID:24487799   PMID:24952961   PMID:24968361   PMID:25053427   PMID:25171319   PMID:25258086   PMID:25259520   PMID:25467980   PMID:25512300   PMID:25804738   PMID:25855264   PMID:25918232  
PMID:25995356   PMID:26166575   PMID:26542012   PMID:26554594   PMID:26697723   PMID:26752640   PMID:26901059   PMID:26944677   PMID:27287386   PMID:27292642   PMID:27740873   PMID:27798109  
PMID:27993987   PMID:28036337   PMID:28071588   PMID:28100774   PMID:28103279   PMID:28215845   PMID:28576773   PMID:28602636   PMID:28603487   PMID:28627419   PMID:28685891   PMID:28970231  
PMID:29358049   PMID:29513653   PMID:29659809   PMID:29679559   PMID:29878134   PMID:29910119   PMID:29953253   PMID:30063881   PMID:30375389   PMID:30518625   PMID:30571765   PMID:30659230  
PMID:30796806   PMID:31175998   PMID:31208980   PMID:31345937   PMID:31665922   PMID:31668390   PMID:31670387   PMID:31872525   PMID:32033960   PMID:32149367   PMID:32274496   PMID:32608477  
PMID:32868762  


Genomics

Comparative Map Data
Arx
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X92,330,113 - 92,341,963 (+)NCBIGRCm39mm39
GRCm39 EnsemblX92,330,051 - 92,341,963 (+)Ensembl
GRCm38X93,286,507 - 93,298,357 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX93,286,445 - 93,298,357 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X90,531,985 - 90,543,696 (+)NCBIGRCm37mm9NCBIm37
MGSCv36X89,539,365 - 89,551,076 (+)NCBImm8
CeleraX80,208,596 - 80,220,179 (+)NCBICelera
Cytogenetic MapXC3NCBI
cM MapX41.05NCBI
ARX
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX25,003,694 - 25,016,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38X25,003,694 - 25,015,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X25,021,811 - 25,034,082 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X24,932,213 - 24,943,775 (-)NCBINCBI36hg18NCBI36
Build 34X24,781,948 - 24,793,511NCBI
CeleraX29,145,744 - 29,157,998 (-)NCBI
Cytogenetic MapXp21.3NCBI
HuRefX22,763,568 - 22,793,924 (-)NCBIHuRef
CHM1_1X25,053,346 - 25,065,599 (-)NCBICHM1_1
Arx
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X58,016,233 - 58,028,149 (+)NCBI
Rnor_6.0 EnsemblX62,363,757 - 62,376,143 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X62,363,757 - 62,376,139 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X62,957,562 - 62,969,944 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X80,631,375 - 80,643,989 (+)NCBIRGSC3.4rn4RGSC3.4
CeleraX58,455,664 - 58,467,636 (+)NCBICelera
Cytogenetic MapXq22NCBI
Arx
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049555095,326,145 - 5,338,250 (-)NCBIChiLan1.0ChiLan1.0
ARX
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X24,965,203 - 24,977,939 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0X17,598,858 - 17,612,544 (-)NCBIMhudiblu_PPA_v0panPan3
ARX
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X20,545,346 - 20,556,206 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX20,545,346 - 20,556,206 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X20,498,344 - 20,511,419 (-)NCBI
UMICH_Zoey_3.1X20,538,249 - 20,549,126 (-)NCBI
UNSW_CanFamBas_1.0X20,571,748 - 20,582,617 (-)NCBI
UU_Cfam_GSD_1.0X20,628,835 - 20,639,715 (-)NCBI
Arx
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X13,532,367 - 13,551,810 (-)NCBI
SpeTri2.0NW_004936836295,090 - 306,756 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARX
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX21,067,613 - 21,079,524 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X21,067,631 - 21,079,850 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X22,463,824 - 22,474,788 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ARX
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X23,499,791 - 23,518,333 (-)NCBI
ChlSab1.1 EnsemblX23,500,454 - 23,511,524 (-)Ensembl
Arx
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248971,279,138 - 1,303,210 (-)NCBI

Position Markers
Arx  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X93,297,913 - 93,298,327UniSTSGRCm38
MGSCv37X90,542,795 - 90,543,666UniSTSGRCm37
CeleraX80,219,735 - 80,220,149UniSTS
Cytogenetic MapXC3UniSTS
cM MapX33.9UniSTS
cM MapX33.9UniSTS
RH128932  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X93,298,130 - 93,298,328UniSTSGRCm38
MGSCv37X90,543,469 - 90,543,667UniSTSGRCm37
CeleraX80,219,952 - 80,220,150UniSTS
Cytogenetic MapXC3UniSTS
cM MapX33.9UniSTS
Arx  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm38X93,297,456 - 93,298,327UniSTSGRCm38
MGSCv37X90,542,795 - 90,543,666UniSTSGRCm37
CeleraX80,219,278 - 80,220,149UniSTS
Cytogenetic MapXC3UniSTS
cM MapX33.9UniSTS
Arx  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXC3UniSTS
Arx  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXC3UniSTS


QTLs in Region (GRCm38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1357433Dbts2_mdiabetes 2 (mouse)Not determinedX7360056151324042Mouse
4141630Gct6_mgranulosa cell tumorigenesis 6 (mouse)Not determined48090244130864007Mouse
13824980Ferq1_mgenetic fertility QTL 1 (mouse)X55000000150000000Mouse
25314318Sccor2_msynaptonemal complex length to mean MLH1 count ratio 2 (mouse)X7150000097500000Mouse
4141665Mhysq2_mmale hybrid sterility QTL 2 (mouse)Not determined72410246140302463Mouse
12879918Shm4_msperm head morphology 4 (mouse)X73028444103019114Mouse
1357500Mdmsc6_mmodifier of muscularity 6 (mouse)Not determinedX76263065110263152Mouse
1302054Gct4_mgranulosa cell tumorigenesis 4 (mouse)Not determinedX77080730103019114Mouse
11075102Modc2_mmodifier of Odc2 (mouse)X81146308115146453Mouse
4141803Lmr30_mleishmaniasis resistance 30 (mouse)Not determined86019000120019114Mouse

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1100
Count of miRNA genes:391
Interacting mature miRNAs:440
Transcripts:ENSMUST00000046565, ENSMUST00000113947
Prediction methods:Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


Sequence


Reference Sequences
RefSeq Acc Id: ENSMUST00000046565   ⟹   ENSMUSP00000049039
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 EnsemblX93,286,496 - 93,298,357 (+)Ensembl
RefSeq Acc Id: ENSMUST00000113947   ⟹   ENSMUSP00000109580
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 EnsemblX93,286,510 - 93,298,062 (+)Ensembl
RefSeq Acc Id: ENSMUST00000187010
RefSeq Status:
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38.p6 EnsemblX93,286,445 - 93,288,382 (+)Ensembl
RefSeq Acc Id: NM_001305940   ⟹   NP_001292869
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X92,330,113 - 92,341,963 (+)NCBI
GRCm38X93,286,507 - 93,298,357 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007492   ⟹   NP_031518
RefSeq Status: REVIEWED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39X92,330,113 - 92,341,963 (+)NCBI
GRCm38X93,286,507 - 93,298,357 (+)NCBI
MGSCv37X90,531,985 - 90,543,696 (+)RGD
CeleraX80,208,596 - 80,220,179 (+)RGD
cM MapX ENTREZGENE
Sequence:
Reference Sequences
RefSeq Acc Id: NP_031518   ⟸   NM_007492
- UniProtKB: O35085 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001292869   ⟸   NM_001305940
- UniProtKB: O35085 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSMUSP00000049039   ⟸   ENSMUST00000046565
RefSeq Acc Id: ENSMUSP00000109580   ⟸   ENSMUST00000113947

Promoters
RGD ID:6845491
Promoter ID:MM_KWN:61138
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney,   Lung
Transcripts:ENSMUST00000113947,   OTTMUST00000043409
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv36X90,531,586 - 90,532,202 (+)MPROMDB
RGD ID:13680926
Promoter ID:EPDNEW_M24612
Type:multiple initiation site
Name:Arx_1
Description:Mus musculus aristaless related homeobox , transcript variant1, mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm38X93,286,510 - 93,286,570EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:1097716 AgrOrtholog
Ensembl Genes ENSMUSG00000035277 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSMUSP00000049039 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUSP00000109580 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000046565 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSMUST00000113947 ENTREZGENE, UniProtKB/Swiss-Prot
InterPro Homeobox-like_sf UniProtKB/Swiss-Prot
  Homeobox_CS UniProtKB/Swiss-Prot
  Homeobox_dom UniProtKB/Swiss-Prot
  OAR_dom UniProtKB/Swiss-Prot
KEGG Report mmu:11878 UniProtKB/Swiss-Prot
MGD MGI:1097716 ENTREZGENE
NCBI Gene 11878 ENTREZGENE
Pfam Homeodomain UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
PhenoGen Arx PhenoGen
PROSITE HOMEOBOX_1 UniProtKB/Swiss-Prot
  HOMEOBOX_2 UniProtKB/Swiss-Prot
  OAR UniProtKB/Swiss-Prot
SMART HOX UniProtKB/Swiss-Prot
Superfamily-SCOP SSF46689 UniProtKB/Swiss-Prot
UniProt ARX_MOUSE UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A2A4G9 UniProtKB/Swiss-Prot
  Q9QYT4 UniProtKB/Swiss-Prot