ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2) - Rat Genome Database

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Gene: ARHGEF2 (Rho/Rac guanine nucleotide exchange factor 2) Homo sapiens
Analyze
Symbol: ARHGEF2
Name: Rho/Rac guanine nucleotide exchange factor 2
RGD ID: 1312226
HGNC Page HGNC
Description: Exhibits guanyl-nucleotide exchange factor activity; microtubule binding activity; and small GTPase binding activity. Involved in several processes, including cellular response to muramyl dipeptide; positive regulation of NF-kappaB transcription factor activity; and positive regulation of macromolecule metabolic process. Localizes to several cellular components, including microtubule; ruffle membrane; and vesicle. Implicated in neurodevelopmental disorder with midbrain and hindbrain malformations.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: DKFZp547L106; DKFZp547P1516; FLJ45440; GEF; GEF-H1; GEFH1; guanine nucleotide exchange factor H1; KIAA0651; Lfc; LFP40; microtubule-regulated Rho-GEF; NEDMHM; P40; proliferating cell nucleolar antigen p40; rho guanine nucleotide exchange factor 2; Rho/Rac guanine nucleotide exchange factor (GEF) 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1155,946,851 - 156,007,070 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,946,851 - 155,991,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,916,645 - 155,949,408 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,183,269 - 154,214,575 (-)NCBINCBI36hg18NCBI36
Build 341152,729,718 - 152,761,024NCBI
Celera1128,989,509 - 129,021,228 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1127,277,505 - 127,309,545 (-)NCBIHuRef
CHM1_11157,312,414 - 157,344,123 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
all-trans-retinoic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (EXP,ISO)
bucladesine  (EXP)
cadmium dichloride  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cerium trichloride  (ISO)
chloropicrin  (EXP)
choline  (ISO)
chromium(6+)  (ISO)
ciglitazone  (EXP)
cisplatin  (EXP,ISO)
clothianidin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP,ISO)
diclofenac  (EXP)
dicrotophos  (EXP)
dorsomorphin  (EXP)
ethanol  (ISO)
flubendazole  (EXP)
fluoranthene  (ISO)
folic acid  (ISO)
hydroquinone  (EXP)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
mebendazole  (EXP)
medroxyprogesterone acetate  (EXP)
methamphetamine  (ISO)
methapyrilene  (ISO)
methylseleninic acid  (EXP)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (EXP)
pentachlorophenol  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (EXP)
pirinixic acid  (ISO)
piroxicam  (EXP)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
simvastatin  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
testosterone  (ISO)
thapsigargin  (EXP)
triptonide  (ISO)
troglitazone  (EXP)
tungsten  (ISO)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP)
xylitol  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IBA,IMP,ISO)
asymmetric neuroblast division  (IDA)
cell differentiation  (IEA)
cell division  (IEA)
cell morphogenesis  (IBA,IMP,ISO)
cellular hyperosmotic response  (ISS)
cellular response to muramyl dipeptide  (IDA)
cellular response to tumor necrosis factor  (ISS)
establishment of mitotic spindle orientation  (ISO)
G protein-coupled receptor signaling pathway  (TAS)
innate immune response  (IEA)
intracellular protein transport  (NAS)
intracellular signal transduction  (IEA)
negative regulation of extrinsic apoptotic signaling pathway via death domain receptors  (ISS)
negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress  (ISS)
negative regulation of microtubule depolymerization  (IMP)
negative regulation of necroptotic process  (ISS)
negative regulation of neurogenesis  (ISO)
negative regulation of podosome assembly  (ISO)
nervous system development  (IEA)
positive regulation of apoptotic process  (TAS)
positive regulation of epidermal growth factor receptor signaling pathway  (ISO)
positive regulation of ERK1 and ERK2 cascade  (ISO)
positive regulation of interleukin-6 production  (IDA)
positive regulation of metalloendopeptidase activity  (ISO)
positive regulation of neuron differentiation  (IBA,IDA)
positive regulation of neuron migration  (ISS)
positive regulation of NF-kappaB transcription factor activity  (IDA)
positive regulation of p38MAPK cascade  (ISO)
positive regulation of peptidyl-tyrosine phosphorylation  (IDA)
positive regulation of Rac protein signal transduction  (ISO)
positive regulation of transcription by RNA polymerase II  (IDA)
positive regulation of tumor necrosis factor production  (IDA)
positive regulation of wound healing  (ISO)
regulation of catalytic activity  (IEA)
regulation of cell population proliferation  (TAS)
regulation of Rho protein signal transduction  (IBA,ISO,NAS)
regulation of small GTPase mediated signal transduction  (TAS)
tumor necrosis factor-mediated signaling pathway  (ISO)

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:2466560   PMID:9734811   PMID:9857026   PMID:10737800   PMID:11076863   PMID:11230166   PMID:11595749   PMID:11756498   PMID:11912491   PMID:12376548   PMID:12384139   PMID:12477932  
PMID:12787561   PMID:14676191   PMID:14702039   PMID:14970201   PMID:15146197   PMID:15161933   PMID:15302935   PMID:15324660   PMID:15489336   PMID:15827085   PMID:15866167   PMID:16344560  
PMID:16381901   PMID:16565220   PMID:16778209   PMID:16964243   PMID:17314511   PMID:17353931   PMID:17488622   PMID:17643375   PMID:18095154   PMID:18211802   PMID:18287519   PMID:19043560  
PMID:19322201   PMID:19615732   PMID:19625450   PMID:19667072   PMID:19805522   PMID:19911011   PMID:20089843   PMID:20467437   PMID:20558775   PMID:20803552   PMID:21212278   PMID:21352810  
PMID:21423176   PMID:21513698   PMID:21525035   PMID:21873635   PMID:21887730   PMID:22002306   PMID:22072711   PMID:22226472   PMID:22226621   PMID:22268729   PMID:22298430   PMID:22301607  
PMID:22513363   PMID:22593214   PMID:22658674   PMID:22678362   PMID:22847784   PMID:22898781   PMID:22959728   PMID:23022380   PMID:23057787   PMID:23383273   PMID:23432781   PMID:23443559  
PMID:24043311   PMID:24255178   PMID:24332808   PMID:24352660   PMID:24525234   PMID:24706358   PMID:24711643   PMID:24797263   PMID:25143398   PMID:25416956   PMID:25458010   PMID:25609649  
PMID:25659891   PMID:25687035   PMID:25921289   PMID:26186194   PMID:26344197   PMID:26359301   PMID:26439863   PMID:26496610   PMID:26638075   PMID:26759237   PMID:26820534   PMID:26866809  
PMID:27377895   PMID:27545878   PMID:27573550   PMID:27684187   PMID:27705803   PMID:27880917   PMID:28031328   PMID:28096473   PMID:28453519   PMID:28514442   PMID:28515276   PMID:28718761  
PMID:29089450   PMID:29229926   PMID:29459360   PMID:29467282   PMID:29507755   PMID:29509190   PMID:29568061   PMID:29802200   PMID:30196744   PMID:30305100   PMID:30462309   PMID:30463901  
PMID:30737378   PMID:30833792   PMID:30846413   PMID:31048545   PMID:31073040   PMID:31091453   PMID:31420453   PMID:31515488   PMID:31527615   PMID:31586073   PMID:32129710   PMID:32296183  
PMID:32838362   PMID:32877691   PMID:33001583   PMID:33005030  


Genomics

Comparative Map Data
ARHGEF2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1155,946,851 - 156,007,070 (-)EnsemblGRCh38hg38GRCh38
GRCh381155,946,851 - 155,991,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371155,916,645 - 155,949,408 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361154,183,269 - 154,214,575 (-)NCBINCBI36hg18NCBI36
Build 341152,729,718 - 152,761,024NCBI
Celera1128,989,509 - 129,021,228 (-)NCBI
Cytogenetic Map1q22NCBI
HuRef1127,277,505 - 127,309,545 (-)NCBIHuRef
CHM1_11157,312,414 - 157,344,123 (-)NCBICHM1_1
Arhgef2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39388,500,427 - 88,556,839 (+)NCBIGRCm39mm39
GRCm39 Ensembl388,513,273 - 88,555,359 (+)Ensembl
GRCm38388,593,105 - 88,649,532 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl388,605,966 - 88,648,052 (+)EnsemblGRCm38mm10GRCm38
MGSCv37388,425,028 - 88,451,974 (+)NCBIGRCm37mm9NCBIm37
MGSCv36388,707,065 - 88,732,841 (+)NCBImm8
Celera388,660,982 - 88,688,007 (+)NCBICelera
Cytogenetic Map3F1NCBI
Arhgef2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.22174,061,126 - 174,118,355 (+)NCBI
Rnor_6.0 Ensembl2187,977,008 - 188,021,377 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.02187,964,100 - 188,022,847 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.02207,366,791 - 207,423,801 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42180,748,313 - 180,775,656 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.12180,698,418 - 180,725,761 (+)NCBI
Celera2168,035,282 - 168,062,671 (+)NCBICelera
Cytogenetic Map2q34NCBI
Arhgef2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555452,149,107 - 2,197,153 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555452,149,107 - 2,192,986 (-)NCBIChiLan1.0ChiLan1.0
ARHGEF2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11135,112,040 - 135,177,186 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1135,112,040 - 135,159,299 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01131,282,514 - 131,326,535 (-)NCBIMhudiblu_PPA_v0panPan3
ARHGEF2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1741,835,322 - 41,850,488 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl741,812,353 - 41,850,488 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha741,324,784 - 41,340,572 (+)NCBI
ROS_Cfam_1.0741,671,709 - 41,718,518 (+)NCBI
UMICH_Zoey_3.1741,482,812 - 41,498,603 (+)NCBI
UNSW_CanFamBas_1.0741,536,462 - 41,552,253 (+)NCBI
UU_Cfam_GSD_1.0741,820,637 - 41,836,427 (+)NCBI
Arhgef2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505826,182,941 - 26,216,578 (-)NCBI
SpeTri2.0NW_0049365805,213,323 - 5,230,861 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ARHGEF2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl494,026,385 - 94,080,422 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1494,026,391 - 94,082,206 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.24102,769,501 - 102,823,704 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ARHGEF2
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1207,884,220 - 7,927,738 (+)NCBI
ChlSab1.1 Ensembl207,905,662 - 7,930,657 (+)Ensembl
Arhgef2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248851,314,885 - 1,362,730 (-)NCBI

Position Markers
RH93673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,938,271 - 155,938,391UniSTSGRCh37
Build 361154,204,895 - 154,205,015RGDNCBI36
Celera1129,011,150 - 129,011,270RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1127,299,467 - 127,299,587UniSTS
GeneMap99-GB4 RH Map1561.86UniSTS
D21S1418  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372119,539,498 - 19,539,600UniSTSGRCh37
GRCh372119,539,437 - 19,539,667UniSTSGRCh37
GRCh371155,923,613 - 155,924,959UniSTSGRCh37
Build 362118,461,308 - 18,461,538RGDNCBI36
Celera214,715,214 - 4,715,316UniSTS
Celera1128,996,492 - 128,997,840UniSTS
Celera214,715,153 - 4,715,383RGD
Cytogenetic Map1q21-q22UniSTS
HuRef214,927,382 - 4,927,608UniSTS
HuRef1127,284,489 - 127,286,159UniSTS
HuRef214,927,443 - 4,927,541UniSTS
RH12218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,916,784 - 155,916,919UniSTSGRCh37
Build 361154,183,408 - 154,183,543RGDNCBI36
Celera1128,989,663 - 128,989,798RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1127,277,659 - 127,277,794UniSTS
GeneMap99-GB4 RH Map1562.07UniSTS
RH70822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,917,477 - 155,917,602UniSTSGRCh37
Build 361154,184,101 - 154,184,226RGDNCBI36
Celera1128,990,356 - 128,990,481RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1127,278,352 - 127,278,477UniSTS
GeneMap99-GB4 RH Map1561.89UniSTS
ARHGEF2_7937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,916,487 - 155,917,377UniSTSGRCh37
Build 361154,183,111 - 154,184,001RGDNCBI36
Celera1128,989,366 - 128,990,256RGD
HuRef1127,277,362 - 127,278,252UniSTS
G15881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371155,917,352 - 155,917,588UniSTSGRCh37
Build 361154,183,976 - 154,184,212RGDNCBI36
Celera1128,990,231 - 128,990,467RGD
Cytogenetic Map1q21-q22UniSTS
HuRef1127,278,227 - 127,278,463UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6747
Count of miRNA genes:1107
Interacting mature miRNAs:1440
Transcripts:ENST00000313667, ENST00000313695, ENST00000361247, ENST00000368315, ENST00000368316, ENST00000462460, ENST00000465079, ENST00000470541, ENST00000470874, ENST00000470975, ENST00000471589, ENST00000474428, ENST00000476273, ENST00000477754, ENST00000487755, ENST00000495070, ENST00000497907, ENST00000608543, ENST00000609126, ENST00000609707
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 2398 2661 1013 240 1925 97 3194 1264 3285 277 1409 1593 155 1204 1938 3
Low 34 323 709 381 23 366 1161 929 435 141 39 15 17 850 1
Below cutoff 1 1 1 9 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001162383 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001162384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001350112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004723 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005245594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006711626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002794 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017002798 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF486838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI925929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL355388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL527706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC020567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC027722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF349572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM146462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM476546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM552445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN264153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN388788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA344419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY130236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X15610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000313667   ⟹   ENSP00000314787
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,947,942 - 155,978,427 (-)Ensembl
RefSeq Acc Id: ENST00000313695   ⟹   ENSP00000315325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,851 - 155,978,160 (-)Ensembl
RefSeq Acc Id: ENST00000361247   ⟹   ENSP00000354837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,854 - 155,978,547 (-)Ensembl
RefSeq Acc Id: ENST00000368315   ⟹   ENSP00000357298
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,947,367 - 155,952,721 (-)Ensembl
RefSeq Acc Id: ENST00000423422   ⟹   ENSP00000476518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,985,375 - 156,007,070 (-)Ensembl
RefSeq Acc Id: ENST00000462460   ⟹   ENSP00000476916
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,855 - 155,990,073 (-)Ensembl
RefSeq Acc Id: ENST00000465079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,968,809 - 155,979,113 (-)Ensembl
RefSeq Acc Id: ENST00000470541   ⟹   ENSP00000476689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,856 - 155,951,748 (-)Ensembl
RefSeq Acc Id: ENST00000470874   ⟹   ENSP00000477448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,963,127 - 155,966,479 (-)Ensembl
RefSeq Acc Id: ENST00000470975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,952,803 - 155,961,957 (-)Ensembl
RefSeq Acc Id: ENST00000471589   ⟹   ENSP00000477299
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,963,140 - 155,979,099 (-)Ensembl
RefSeq Acc Id: ENST00000474428
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,952,732 - 155,962,623 (-)Ensembl
RefSeq Acc Id: ENST00000476273
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,964,988 - 155,978,501 (-)Ensembl
RefSeq Acc Id: ENST00000477754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,855 - 156,002,564 (-)Ensembl
RefSeq Acc Id: ENST00000487755
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,968,220 - 155,971,063 (-)Ensembl
RefSeq Acc Id: ENST00000495070   ⟹   ENSP00000476532
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,969,248 - 155,989,499 (-)Ensembl
RefSeq Acc Id: ENST00000497907   ⟹   ENSP00000476724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,964,988 - 155,978,169 (-)Ensembl
RefSeq Acc Id: ENST00000608543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,961,939 - 155,962,972 (-)Ensembl
RefSeq Acc Id: ENST00000609707   ⟹   ENSP00000476699
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,965,324 - 155,969,729 (-)Ensembl
RefSeq Acc Id: ENST00000673475   ⟹   ENSP00000500802
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1155,946,855 - 155,991,212 (-)Ensembl
RefSeq Acc Id: NM_001162383   ⟹   NP_001155855
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,978,547 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
HuRef1127,277,505 - 127,309,545 (-)ENTREZGENE
CHM1_11157,312,414 - 157,344,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001162384   ⟹   NP_001155856
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,978,547 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
HuRef1127,277,505 - 127,309,545 (-)ENTREZGENE
CHM1_11157,312,414 - 157,344,123 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350110   ⟹   NP_001337039
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,979,156 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350111   ⟹   NP_001337040
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,978,175 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001350112   ⟹   NP_001337041
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,979,617 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004723   ⟹   NP_004714
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,854 - 155,978,175 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Build 361154,183,269 - 154,214,575 (-)NCBI Archive
HuRef1127,277,505 - 127,309,545 (-)ENTREZGENE
CHM1_11157,312,414 - 157,343,753 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245587   ⟹   XP_005245644
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,978,598 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245588   ⟹   XP_005245645
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,978,598 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245589   ⟹   XP_005245646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,969,920 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245590   ⟹   XP_005245647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,983,380 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245591   ⟹   XP_005245648
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,983,600 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005245594   ⟹   XP_005245651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,971,346 (-)NCBI
GRCh371155,916,431 - 155,953,396 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711622   ⟹   XP_006711685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,980,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711623   ⟹   XP_006711686
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,978,591 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711624   ⟹   XP_006711687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,979,115 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711625   ⟹   XP_006711688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,978,175 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006711626   ⟹   XP_006711689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,971,347 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510136   ⟹   XP_011508438
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,991,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510137   ⟹   XP_011508439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,991,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510139   ⟹   XP_011508441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,991,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510143   ⟹   XP_011508445
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,966,479 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002794   ⟹   XP_016858283
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,991,262 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002795   ⟹   XP_016858284
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,969,661 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002797   ⟹   XP_016858286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,978,178 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017002798   ⟹   XP_016858287
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,853 - 155,980,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450815   ⟹   XP_024306583
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,990,529 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450823   ⟹   XP_024306591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,946,851 - 155,990,530 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001155855 (Get FASTA)   NCBI Sequence Viewer  
  NP_001155856 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337039 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337040 (Get FASTA)   NCBI Sequence Viewer  
  NP_001337041 (Get FASTA)   NCBI Sequence Viewer  
  NP_004714 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245644 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245645 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245646 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245647 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245648 (Get FASTA)   NCBI Sequence Viewer  
  XP_005245651 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711685 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711686 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711687 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711688 (Get FASTA)   NCBI Sequence Viewer  
  XP_006711689 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508438 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508439 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508441 (Get FASTA)   NCBI Sequence Viewer  
  XP_011508445 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858283 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858284 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858286 (Get FASTA)   NCBI Sequence Viewer  
  XP_016858287 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306583 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306591 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC97383 (Get FASTA)   NCBI Sequence Viewer  
  AAH20567 (Get FASTA)   NCBI Sequence Viewer  
  AAL96658 (Get FASTA)   NCBI Sequence Viewer  
  AAP36075 (Get FASTA)   NCBI Sequence Viewer  
  BAA31626 (Get FASTA)   NCBI Sequence Viewer  
  BAG58711 (Get FASTA)   NCBI Sequence Viewer  
  BAH14213 (Get FASTA)   NCBI Sequence Viewer  
  CAA33634 (Get FASTA)   NCBI Sequence Viewer  
  CAC21656 (Get FASTA)   NCBI Sequence Viewer  
  EAW53012 (Get FASTA)   NCBI Sequence Viewer  
  EAW53013 (Get FASTA)   NCBI Sequence Viewer  
  EAW53014 (Get FASTA)   NCBI Sequence Viewer  
  EAW53015 (Get FASTA)   NCBI Sequence Viewer  
  EAW53016 (Get FASTA)   NCBI Sequence Viewer  
  EAW53017 (Get FASTA)   NCBI Sequence Viewer  
  EAW53018 (Get FASTA)   NCBI Sequence Viewer  
  Q92974 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001155856   ⟸   NM_001162384
- Peptide Label: isoform 2
- UniProtKB: Q92974 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001155855   ⟸   NM_001162383
- Peptide Label: isoform 1
- UniProtKB: Q92974 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004714   ⟸   NM_004723
- Peptide Label: isoform 3
- UniProtKB: Q92974 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005245648   ⟸   XM_005245591
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005245647   ⟸   XM_005245590
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_005245645   ⟸   XM_005245588
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_005245644   ⟸   XM_005245587
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005245651   ⟸   XM_005245594
- Peptide Label: isoform X11
- Sequence:
RefSeq Acc Id: XP_005245646   ⟸   XM_005245589
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_006711685   ⟸   XM_006711622
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_006711687   ⟸   XM_006711624
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_006711686   ⟸   XM_006711623
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_006711688   ⟸   XM_006711625
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_006711689   ⟸   XM_006711626
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_011508441   ⟸   XM_011510139
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011508438   ⟸   XM_011510136
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011508439   ⟸   XM_011510137
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508445   ⟸   XM_011510143
- Peptide Label: isoform X15
- Sequence:
RefSeq Acc Id: XP_016858286   ⟸   XM_017002797
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016858284   ⟸   XM_017002795
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016858287   ⟸   XM_017002798
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: XP_016858283   ⟸   XM_017002794
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001337041   ⟸   NM_001350112
- Peptide Label: isoform 5
- Sequence:
RefSeq Acc Id: NP_001337039   ⟸   NM_001350110
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001337040   ⟸   NM_001350111
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: XP_024306591   ⟸   XM_024450823
- Peptide Label: isoform X14
- Sequence:
RefSeq Acc Id: XP_024306583   ⟸   XM_024450815
- Peptide Label: isoform X13
- Sequence:
RefSeq Acc Id: ENSP00000500802   ⟸   ENST00000673475
RefSeq Acc Id: ENSP00000476518   ⟸   ENST00000423422
RefSeq Acc Id: ENSP00000476699   ⟸   ENST00000609707
RefSeq Acc Id: ENSP00000354837   ⟸   ENST00000361247
RefSeq Acc Id: ENSP00000476532   ⟸   ENST00000495070
RefSeq Acc Id: ENSP00000476724   ⟸   ENST00000497907
RefSeq Acc Id: ENSP00000315325   ⟸   ENST00000313695
RefSeq Acc Id: ENSP00000314787   ⟸   ENST00000313667
RefSeq Acc Id: ENSP00000476689   ⟸   ENST00000470541
RefSeq Acc Id: ENSP00000477448   ⟸   ENST00000470874
RefSeq Acc Id: ENSP00000477299   ⟸   ENST00000471589
RefSeq Acc Id: ENSP00000357298   ⟸   ENST00000368315
RefSeq Acc Id: ENSP00000476916   ⟸   ENST00000462460
Protein Domains
DH   PH   Phorbol-ester/DAG-type

Promoters
RGD ID:6784643
Promoter ID:HG_KWN:5454
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000046210,   UC001FMQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,187,356 - 154,188,882 (-)MPROMDB
RGD ID:6784635
Promoter ID:HG_KWN:5455
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000096546
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,198,266 - 154,199,357 (-)MPROMDB
RGD ID:6784634
Promoter ID:HG_KWN:5456
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:OTTHUMT00000096545
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,199,239 - 154,199,739 (-)MPROMDB
RGD ID:6784631
Promoter ID:HG_KWN:5457
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000046212
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,202,691 - 154,203,542 (-)MPROMDB
RGD ID:6814448
Promoter ID:HG_XEF:516
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001001456,   NM_001081631,   NM_001136164
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,205,656 - 154,206,156 (-)MPROMDB
RGD ID:6784630
Promoter ID:HG_KWN:5458
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000046208,   OTTHUMT00000046209
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,206,001 - 154,207,297 (-)MPROMDB
RGD ID:6784629
Promoter ID:HG_KWN:5459
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000046207
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,208,581 - 154,209,592 (-)MPROMDB
RGD ID:6784633
Promoter ID:HG_KWN:5460
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001162383,   NM_001162384,   NM_004723,   OTTHUMT00000046211,   OTTHUMT00000046213,   OTTHUMT00000046214,   OTTHUMT00000046215
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,214,881 - 154,216,097 (-)MPROMDB
RGD ID:6809504
Promoter ID:HG_ACW:4270
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ARHGEF2.JAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361154,219,946 - 154,220,446 (-)MPROMDB
RGD ID:6857520
Promoter ID:EPDNEW_H1925
Type:initiation region
Name:ARHGEF2_3
Description:Rho/Rac guanine nucleotide exchange factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1926  EPDNEW_H1927  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,977,720 - 155,977,780EPDNEW
RGD ID:6857522
Promoter ID:EPDNEW_H1926
Type:initiation region
Name:ARHGEF2_2
Description:Rho/Rac guanine nucleotide exchange factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1925  EPDNEW_H1927  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,978,175 - 155,978,235EPDNEW
RGD ID:6857524
Promoter ID:EPDNEW_H1927
Type:initiation region
Name:ARHGEF2_1
Description:Rho/Rac guanine nucleotide exchange factor 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H1925  EPDNEW_H1926  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381155,978,542 - 155,978,602EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001162383.1(ARHGEF2):c.402C>T (p.Leu134=) single nucleotide variant Malignant melanoma [RCV000064198] Chr1:155965699 [GRCh38]
Chr1:155935490 [GRCh37]
Chr1:154202114 [NCBI36]
Chr1:1q22
not provided
GRCh38/hg38 1q22(chr1:155834419-156434205)x3 copy number gain See cases [RCV000138885] Chr1:155834419..156434205 [GRCh38]
Chr1:155804210..156403997 [GRCh37]
Chr1:154070834..154670621 [NCBI36]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3 copy number gain See cases [RCV000139902] Chr1:154566501..157624084 [GRCh38]
Chr1:154538977..157593874 [GRCh37]
Chr1:152805601..155860498 [NCBI36]
Chr1:1q21.3-23.1
pathogenic
GRCh38/hg38 1q22(chr1:155960118-156013943)x3 copy number gain See cases [RCV000141345] Chr1:155960118..156013943 [GRCh38]
Chr1:155929909..155983734 [GRCh37]
Chr1:154196533..154250358 [NCBI36]
Chr1:1q22
uncertain significance
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 copy number gain See cases [RCV000143515] Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2
pathogenic
NC_000001.10:g.(?_155870169)_(156108907_?)dup duplication Charcot-Marie-Tooth disease, type 2 [RCV000817926] Chr1:155900378..156139116 [GRCh38]
Chr1:155870169..156108907 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3 copy number gain not provided [RCV000585385] Chr1:153751465..156660462 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
NC_000001.10:g.(?_155880221)_(156109650_?)del deletion Noonan syndrome 8 [RCV000541808] Chr1:155880221..156109650 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22(chr1:155902781-156210031)x3 copy number gain See cases [RCV000447140] Chr1:155902781..156210031 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001162383.2(ARHGEF2):c.1545+1del deletion Neurodevelopmental disorder with midbrain and hindbrain malformations [RCV000490812] Chr1:155958319 [GRCh38]
Chr1:155928110 [GRCh37]
Chr1:1q22
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44
pathogenic
Single allele inversion Pediatric metastatic thyroid tumour [RCV000585807] Chr1:154130985..156843877 [GRCh37]
Chr1:1q21.3-23.1
likely pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1 copy number loss not provided [RCV000684658] Chr1:155636337..158024499 [GRCh37]
Chr1:1q22-23.1
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44
pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44
pathogenic
NM_001162383.2(ARHGEF2):c.123C>T (p.Leu41=) single nucleotide variant not provided [RCV000914511] Chr1:155969241 [GRCh38]
Chr1:155939032 [GRCh37]
Chr1:1q22
likely benign
NM_001162383.2(ARHGEF2):c.2202G>T (p.Pro734=) single nucleotide variant not provided [RCV000958504] Chr1:155951747 [GRCh38]
Chr1:155921538 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.852C>T (p.Asp284=) single nucleotide variant not provided [RCV000904246] Chr1:155963056 [GRCh38]
Chr1:155932847 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.1566G>A (p.Ser522=) single nucleotide variant not provided [RCV000923489] Chr1:155957862 [GRCh38]
Chr1:155927653 [GRCh37]
Chr1:1q22
likely benign
NM_001162383.2(ARHGEF2):c.1290C>T (p.Asp430=) single nucleotide variant not provided [RCV000972654] Chr1:155961839 [GRCh38]
Chr1:155931630 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.2851G>T (p.Gly951Cys) single nucleotide variant not provided [RCV000953005] Chr1:155950335 [GRCh38]
Chr1:155920126 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.993G>A (p.Ala331=) single nucleotide variant not provided [RCV000898717] Chr1:155962701 [GRCh38]
Chr1:155932492 [GRCh37]
Chr1:1q22
likely benign
NM_001162383.2(ARHGEF2):c.516A>G (p.Ser172=) single nucleotide variant not provided [RCV000972656] Chr1:155965367 [GRCh38]
Chr1:155935158 [GRCh37]
Chr1:1q22
benign
GRCh37/hg19 1q22(chr1:155922215-156015659)x4 copy number gain not provided [RCV000847464] Chr1:155922215..156015659 [GRCh37]
Chr1:1q22
uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3 copy number gain not provided [RCV000848811] Chr1:155770505..156652136 [GRCh37]
Chr1:1q22-23.1
uncertain significance
NM_001162383.2(ARHGEF2):c.382G>A (p.Asp128Asn) single nucleotide variant Neurodevelopmental disorder with midbrain and hindbrain malformations [RCV000984984] Chr1:155965719 [GRCh38]
Chr1:155935510 [GRCh37]
Chr1:1q22
uncertain significance
NM_001162383.2(ARHGEF2):c.1446G>A (p.Lys482=) single nucleotide variant not provided [RCV000955153] Chr1:155961683 [GRCh38]
Chr1:155931474 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.759A>G (p.Thr253=) single nucleotide variant not provided [RCV000953650] Chr1:155963149 [GRCh38]
Chr1:155932940 [GRCh37]
Chr1:1q22
likely benign
NM_001162383.2(ARHGEF2):c.581-10T>A single nucleotide variant not provided [RCV000972655] Chr1:155965141 [GRCh38]
Chr1:155934932 [GRCh37]
Chr1:1q22
benign
NM_001162383.2(ARHGEF2):c.1701G>C (p.Gln567His) single nucleotide variant Microcephaly [RCV001252705] Chr1:155957727 [GRCh38]
Chr1:155927518 [GRCh37]
Chr1:1q22
uncertain significance
NM_001162383.2(ARHGEF2):c.2935G>T (p.Gly979Trp) single nucleotide variant Microcephaly [RCV001252908] Chr1:155947968 [GRCh38]
Chr1:155917759 [GRCh37]
Chr1:1q22
uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup duplication Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44
uncertain significance
NC_000001.10:g.(?_155880221)_(156109650_?)del deletion Noonan syndrome 8 [RCV001300703] Chr1:155880221..156109650 [GRCh37]
Chr1:1q22
uncertain significance
NM_001162383.2(ARHGEF2):c.917G>T (p.Cys306Phe) single nucleotide variant Neurodevelopmental disorder with midbrain and hindbrain malformations [RCV001330397] Chr1:155962991 [GRCh38]
Chr1:155932782 [GRCh37]
Chr1:1q22
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:682 AgrOrtholog
COSMIC ARHGEF2 COSMIC
Ensembl Genes ENSG00000116584 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000314787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000315325 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354837 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000357298 UniProtKB/TrEMBL
  ENSP00000476518 UniProtKB/TrEMBL
  ENSP00000476532 UniProtKB/TrEMBL
  ENSP00000476689 UniProtKB/TrEMBL
  ENSP00000476699 UniProtKB/TrEMBL
  ENSP00000476724 UniProtKB/TrEMBL
  ENSP00000476916 UniProtKB/TrEMBL
  ENSP00000477299 UniProtKB/TrEMBL
  ENSP00000477448 UniProtKB/TrEMBL
  ENSP00000500802 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000313667 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000313695 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361247 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000368315 UniProtKB/TrEMBL
  ENST00000423422 UniProtKB/TrEMBL
  ENST00000462460 UniProtKB/TrEMBL
  ENST00000470541 UniProtKB/TrEMBL
  ENST00000470874 UniProtKB/TrEMBL
  ENST00000471589 UniProtKB/TrEMBL
  ENST00000495070 UniProtKB/TrEMBL
  ENST00000497907 UniProtKB/TrEMBL
  ENST00000609707 UniProtKB/TrEMBL
  ENST00000673475 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 1.20.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000116584 GTEx
HGNC ID HGNC:682 ENTREZGENE
Human Proteome Map ARHGEF2 Human Proteome Map
InterPro ARHGEF2_PH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DBL_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DH-domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PE/DAG-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9181 UniProtKB/Swiss-Prot
NCBI Gene 9181 ENTREZGENE
OMIM 607560 OMIM
  617523 OMIM
Pfam C1_1 UniProtKB/TrEMBL
  PH_16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24972 PharmGKB
PROSITE DH_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_DAG_PE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART RhoGEF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00109 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00233 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48065 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1Y8EN19_HUMAN UniProtKB/TrEMBL
  A0A5F9ZI21_HUMAN UniProtKB/TrEMBL
  ARHG2_HUMAN UniProtKB/Swiss-Prot
  D3DVA5_HUMAN UniProtKB/TrEMBL
  Q5VY93_HUMAN UniProtKB/TrEMBL
  Q92974 ENTREZGENE
  V9GY94_HUMAN UniProtKB/TrEMBL
  V9GYF0_HUMAN UniProtKB/TrEMBL
  V9GYF5_HUMAN UniProtKB/TrEMBL
  V9GYG5_HUMAN UniProtKB/TrEMBL
  V9GYM8_HUMAN UniProtKB/TrEMBL
  V9GZ14_HUMAN UniProtKB/TrEMBL
  V9GZ58_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DVA6 UniProtKB/Swiss-Prot
  O75142 UniProtKB/Swiss-Prot
  Q15079 UniProtKB/Swiss-Prot
  Q5VY92 UniProtKB/Swiss-Prot
  Q8TDA3 UniProtKB/Swiss-Prot
  Q8WUG4 UniProtKB/Swiss-Prot
  Q9H023 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 ARHGEF2  Rho/Rac guanine nucleotide exchange factor 2    Rho/Rac guanine nucleotide exchange factor (GEF) 2  Symbol and/or name change 5135510 APPROVED
2011-08-17 ARHGEF2  Rho/Rac guanine nucleotide exchange factor (GEF) 2  ARHGEF2  Rho/Rac guanine nucleotide exchange factor (GEF) 2  Symbol and/or name change 5135510 APPROVED