RHOQ (ras homolog family member Q) - Rat Genome Database

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Gene: RHOQ (ras homolog family member Q) Homo sapiens
Analyze
Symbol: RHOQ
Name: ras homolog family member Q
RGD ID: 1345983
HGNC Page HGNC
Description: Enables GBD domain binding activity; GTPase activity; and profilin binding activity. Involved in several processes, including GTP metabolic process; positive regulation of filopodium assembly; and positive regulation of glucose import. Located in actin filament and plasma membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: ARHQ; epididymis secretory protein Li 42; HEL-S-42; ras homolog gene family, member Q; ras-like protein family member 7A; ras-like protein TC10; RAS-like, family 7, member A; RASL7A; rho-related GTP-binding protein RhoQ; TC10; TC10A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: RHOQP1   RHOQP2   RHOQP3  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl246,541,806 - 46,584,688 (+)EnsemblGRCh38hg38GRCh38
GRCh38246,542,409 - 46,584,688 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37246,769,629 - 46,811,827 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36246,623,371 - 46,665,331 (+)NCBINCBI36hg18NCBI36
Build 34246,681,525 - 46,721,071NCBI
Celera246,608,550 - 46,650,502 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef246,508,355 - 46,549,243 (+)NCBIHuRef
CHM1_1246,700,205 - 46,742,118 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
1-benzylpiperazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-butoxyethanol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
6-propyl-2-thiouracil  (ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
aristolochic acid  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
dorsomorphin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
ethanol  (ISO)
fumonisin B1  (ISO)
gadodiamide hydrate  (EXP)
genistein  (EXP)
isobutanol  (EXP)
methylmercury chloride  (EXP)
microcystin-LR  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
ochratoxin A  (ISO)
paracetamol  (EXP,ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
resveratrol  (EXP)
SB 431542  (EXP)
Soman  (ISO)
succimer  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
tunicamycin  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincristine  (EXP)
vitamin E  (EXP)

References

Additional References at PubMed
PMID:2108320   PMID:10445846   PMID:10490598   PMID:10934474   PMID:10967094   PMID:11149925   PMID:11162552   PMID:11309621   PMID:11821390   PMID:12134073   PMID:12242347   PMID:12456725  
PMID:12477932   PMID:12508121   PMID:12529401   PMID:12687004   PMID:12972548   PMID:14702039   PMID:15194684   PMID:15304341   PMID:15361624   PMID:15489334   PMID:15546864   PMID:16246732  
PMID:16950130   PMID:18660489   PMID:19258391   PMID:19322201   PMID:20416077   PMID:21873635   PMID:23533145   PMID:24223996   PMID:24297911   PMID:24663214   PMID:25416956   PMID:27684187  
PMID:30561431   PMID:32296183   PMID:32506201  


Genomics

Comparative Map Data
RHOQ
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl246,541,806 - 46,584,688 (+)EnsemblGRCh38hg38GRCh38
GRCh38246,542,409 - 46,584,688 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37246,769,629 - 46,811,827 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36246,623,371 - 46,665,331 (+)NCBINCBI36hg18NCBI36
Build 34246,681,525 - 46,721,071NCBI
Celera246,608,550 - 46,650,502 (+)NCBI
Cytogenetic Map2p21NCBI
HuRef246,508,355 - 46,549,243 (+)NCBIHuRef
CHM1_1246,700,205 - 46,742,118 (+)NCBICHM1_1
Rhoq
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391787,270,539 - 87,307,497 (+)NCBIGRCm39mm39
GRCm39 Ensembl1787,270,510 - 87,307,497 (+)Ensembl
GRCm381786,963,111 - 87,000,069 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1786,963,082 - 87,000,069 (+)EnsemblGRCm38mm10GRCm38
MGSCv371787,362,451 - 87,399,409 (+)NCBIGRCm37mm9NCBIm37
MGSCv361786,871,437 - 86,908,395 (+)NCBImm8
MGSCv361786,286,620 - 86,323,731 (+)NCBImm8
Celera1791,341,979 - 91,379,066 (+)NCBICelera
Cytogenetic Map17E4NCBI
cM Map1756.9NCBI
Rhoq
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.267,613,632 - 7,652,047 (-)NCBImRatBN7.2
Rnor_6.0610,533,151 - 10,568,582 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl610,533,151 - 10,568,581 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0620,521,668 - 20,557,099 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4610,414,042 - 10,449,472 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1610,414,041 - 10,449,471 (+)NCBI
Celera67,350,412 - 7,385,836 (-)NCBICelera
Cytogenetic Map6q12NCBI
Rhoq
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544113,457,757 - 13,495,221 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544113,457,757 - 13,495,221 (+)NCBIChiLan1.0ChiLan1.0
RHOQ
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A47,589,343 - 47,629,200 (+)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02A46,657,884 - 46,698,604 (+)NCBIMhudiblu_PPA_v0panPan3
RHOQ
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11048,766,623 - 48,807,198 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1048,768,191 - 48,804,129 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1048,621,692 - 48,661,408 (+)NCBI
ROS_Cfam_1.01049,638,479 - 49,678,182 (+)NCBI
UMICH_Zoey_3.11049,346,518 - 49,386,173 (+)NCBI
UNSW_CanFamBas_1.01049,636,763 - 49,676,458 (+)NCBI
UU_Cfam_GSD_1.01049,819,868 - 49,859,560 (+)NCBI
Rhoq
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629234,265,228 - 34,298,999 (-)NCBI
SpeTri2.0NW_0049365085,692,482 - 5,727,608 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RHOQ
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl393,973,622 - 94,012,580 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1393,970,545 - 94,012,660 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23100,054,930 - 100,097,052 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RHOQ
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11460,605,881 - 60,648,444 (-)NCBI
ChlSab1.1 Ensembl1460,608,998 - 60,648,193 (-)Ensembl
Vero_WHO_p1.0NW_02366604551,197,579 - 51,238,229 (+)NCBI
Rhoq
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473827,997,493 - 28,031,840 (+)NCBI

Position Markers
D2S2603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,810,045 - 46,810,220UniSTSGRCh37
Build 36246,663,549 - 46,663,724RGDNCBI36
Celera246,648,720 - 46,648,895RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p21-p16UniSTS
HuRef246,547,461 - 46,547,636UniSTS
Whitehead-YAC Contig Map2 UniSTS
RH104312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,796,746 - 46,796,921UniSTSGRCh37
Build 36246,650,250 - 46,650,425RGDNCBI36
Celera246,635,428 - 46,635,603RGD
Cytogenetic Map2p21UniSTS
HuRef246,534,173 - 46,534,348UniSTS
GeneMap99-GB4 RH Map2135.91UniSTS
RH120612  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,784,324 - 46,784,596UniSTSGRCh37
Build 36246,637,828 - 46,638,100RGDNCBI36
Celera246,623,006 - 46,623,278RGD
Cytogenetic Map2p21UniSTS
HuRef246,521,755 - 46,522,027UniSTS
TNG Radiation Hybrid Map210070.0UniSTS
G62001  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,809,213 - 46,809,338UniSTSGRCh37
Build 36246,662,717 - 46,662,842RGDNCBI36
Celera246,647,888 - 46,648,013RGD
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p21-p16UniSTS
HuRef246,546,629 - 46,546,754UniSTS
SHGC-59789  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37492,288,269 - 92,288,368UniSTSGRCh37
GRCh37246,805,696 - 46,805,796UniSTSGRCh37
Build 36246,659,200 - 46,659,300RGDNCBI36
Celera246,644,373 - 46,644,473RGD
Celera489,578,537 - 89,578,636UniSTS
HuRef488,031,726 - 88,031,826UniSTS
HuRef246,543,118 - 46,543,216UniSTS
HuRef1273,752,597 - 73,752,827UniSTS
GeneMap99-GB4 RH Map4466.94UniSTS
SHGC-154607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,774,211 - 46,774,531UniSTSGRCh37
Build 36246,627,715 - 46,628,035RGDNCBI36
Celera246,612,894 - 46,613,214RGD
Cytogenetic Map2p21UniSTS
HuRef246,511,643 - 46,511,963UniSTS
TNG Radiation Hybrid Map210073.0UniSTS
SHGC-32727  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37246,809,397 - 46,809,549UniSTSGRCh37
GRCh372130,969,135 - 130,969,278UniSTSGRCh37
Build 362130,685,605 - 130,685,748RGDNCBI36
Celera246,648,072 - 46,648,224RGD
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map2p21-p16UniSTS
Cytogenetic Map2p21UniSTS
HuRef246,546,813 - 46,546,965UniSTS
TNG Radiation Hybrid Map565437.0UniSTS
GeneMap99-GB4 RH Map2142.44UniSTS
Whitehead-RH Map2202.4UniSTS
NCBI RH Map2291.6UniSTS
GeneMap99-G3 RH Map21972.0UniSTS
WI-7257  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p21-p16UniSTS
Whitehead-YAC Contig Map2 UniSTS
D14S659E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS
Cytogenetic Map2p21-p16UniSTS
G27364  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS
RH78810  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1515
Count of miRNA genes:714
Interacting mature miRNAs:843
Transcripts:ENST00000238738, ENST00000432183, ENST00000465198, ENST00000473428, ENST00000482449, ENST00000489448, ENST00000489471, ENST00000494370
Prediction methods: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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2352 2733 1483 387 1697 230 4353 2168 3671 413 1408 1597 169 1203 2788 1
Low 83 258 242 237 251 234 3 27 49 5 43 15 6 1 1 3 2
Below cutoff 3 3 1 2 9 1 8 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_012249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005264229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011532728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498976 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC056154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC065291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC093805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC101806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU928962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU794657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M31470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000238738   ⟹   ENSP00000238738
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,542,490 - 46,584,688 (+)Ensembl
RefSeq Acc Id: ENST00000432183   ⟹   ENSP00000393140
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,542,736 - 46,576,656 (+)Ensembl
RefSeq Acc Id: ENST00000465198
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,541,806 - 46,576,249 (+)Ensembl
RefSeq Acc Id: ENST00000473428   ⟹   ENSP00000429003
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,543,767 - 46,581,318 (+)Ensembl
RefSeq Acc Id: ENST00000482449   ⟹   ENSP00000428006
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,543,400 - 46,576,656 (+)Ensembl
RefSeq Acc Id: ENST00000489448
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,580,284 - 46,581,046 (+)Ensembl
RefSeq Acc Id: ENST00000489471   ⟹   ENSP00000428624
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,543,149 - 46,581,270 (+)Ensembl
RefSeq Acc Id: ENST00000494370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl246,576,128 - 46,577,125 (+)Ensembl
RefSeq Acc Id: NM_012249   ⟹   NP_036381
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,542,490 - 46,584,688 (+)NCBI
GRCh37246,769,867 - 46,811,827 (+)ENTREZGENE
Build 36246,623,371 - 46,665,331 (+)NCBI Archive
HuRef246,508,355 - 46,549,243 (+)NCBI
CHM1_1246,700,205 - 46,742,118 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005264229   ⟹   XP_005264286
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,542,765 - 46,583,121 (+)NCBI
GRCh37246,769,867 - 46,811,827 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532726   ⟹   XP_011531028
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,542,551 - 46,583,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532728   ⟹   XP_011531030
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,543,103 - 46,583,121 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003716   ⟹   XP_016859205
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,542,409 - 46,583,121 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_036381   ⟸   NM_012249
- UniProtKB: P17081 (UniProtKB/Swiss-Prot),   V9HWD0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005264286   ⟸   XM_005264229
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011531028   ⟸   XM_011532726
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011531030   ⟸   XM_011532728
- Peptide Label: isoform X4
- UniProtKB: D6W5A7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859205   ⟸   XM_017003716
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000428006   ⟸   ENST00000482449
RefSeq Acc Id: ENSP00000393140   ⟸   ENST00000432183
RefSeq Acc Id: ENSP00000429003   ⟸   ENST00000473428
RefSeq Acc Id: ENSP00000238738   ⟸   ENST00000238738
RefSeq Acc Id: ENSP00000428624   ⟸   ENST00000489471

Promoters
RGD ID:6860230
Promoter ID:EPDNEW_H3280
Type:initiation region
Name:RHOQ_2
Description:ras homolog family member Q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3281  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,541,793 - 46,541,853EPDNEW
RGD ID:6860232
Promoter ID:EPDNEW_H3281
Type:initiation region
Name:RHOQ_1
Description:ras homolog family member Q
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3280  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38246,542,702 - 46,542,762EPDNEW
RGD ID:6798080
Promoter ID:HG_KWN:32516
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:OTTHUMT00000319412
Position:
Human AssemblyChrPosition (strand)Source
Build 36246,621,861 - 46,622,597 (+)MPROMDB
RGD ID:6796843
Promoter ID:HG_KWN:32517
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012249,   OTTHUMT00000319410,   OTTHUMT00000319411,   OTTHUMT00000319414,   OTTHUMT00000319415,   UC002RUZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36246,622,861 - 46,624,822 (-)MPROMDB
RGD ID:6798081
Promoter ID:HG_KWN:32518
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000319413
Position:
Human AssemblyChrPosition (strand)Source
Build 36246,655,659 - 46,656,159 (+)MPROMDB
RGD ID:6798392
Promoter ID:HG_KWN:32519
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000319416,   UC002RVB.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36246,660,691 - 46,661,191 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1
pathogenic
GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3 copy number gain See cases [RCV000052943] Chr2:40738282..57863821 [GRCh38]
Chr2:40965422..58090956 [GRCh37]
Chr2:40818926..57944460 [NCBI36]
Chr2:2p22.1-16.1
pathogenic
GRCh38/hg38 2p21-16.3(chr2:46415109-48203207)x3 copy number gain See cases [RCV000141883] Chr2:46415109..48203207 [GRCh38]
Chr2:46642248..48430346 [GRCh37]
Chr2:46495752..48283850 [NCBI36]
Chr2:2p21-16.3
uncertain significance
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2
benign
GRCh38/hg38 2p21(chr2:46573689-46732838)x3 copy number gain See cases [RCV000142598] Chr2:46573689..46732838 [GRCh38]
Chr2:46800828..46959977 [GRCh37]
Chr2:46654332..46813481 [NCBI36]
Chr2:2p21
benign
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3
pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.11:g.38121110_47669522inv inversion Lynch syndrome [RCV000494356] Chr2:38121110..47669522 [GRCh37]
Chr2:2p22.2-21
pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3 copy number gain not provided [RCV000682169] Chr2:34792916..56676541 [GRCh37]
Chr2:2p22.3-16.1
pathogenic
GRCh37/hg19 2p21(chr2:46557702-47744377)x3 copy number gain not provided [RCV000682119] Chr2:46557702..47744377 [GRCh37]
Chr2:2p21
uncertain significance
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2p21(chr2:46179259-47646894)x3 copy number gain not provided [RCV001005255] Chr2:46179259..47646894 [GRCh37]
Chr2:2p21
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17736 AgrOrtholog
COSMIC RHOQ COSMIC
Ensembl Genes ENSG00000119729 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000238738 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000393140 UniProtKB/TrEMBL
  ENSP00000428006 UniProtKB/TrEMBL
  ENSP00000428624 UniProtKB/TrEMBL
  ENSP00000429003 UniProtKB/TrEMBL
Ensembl Transcript ENST00000238738 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000432183 UniProtKB/TrEMBL
  ENST00000473428 UniProtKB/TrEMBL
  ENST00000482449 UniProtKB/TrEMBL
  ENST00000489471 UniProtKB/TrEMBL
GTEx ENSG00000119729 GTEx
HGNC ID HGNC:17736 ENTREZGENE
Human Proteome Map RHOQ Human Proteome Map
InterPro P-loop_NTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTP-bd_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Small_GTPase_Rho UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23433 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23433 ENTREZGENE
OMIM 605857 OMIM
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134904280 PharmGKB
PROSITE RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs small_GTP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6W5A7 ENTREZGENE, UniProtKB/TrEMBL
  E5RFZ3_HUMAN UniProtKB/TrEMBL
  F8WET9_HUMAN UniProtKB/TrEMBL
  H0YB40_HUMAN UniProtKB/TrEMBL
  H0YB93_HUMAN UniProtKB/TrEMBL
  P17081 ENTREZGENE, UniProtKB/Swiss-Prot
  V9HWD0 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary D6W5A6 UniProtKB/Swiss-Prot
  Q0VGN1 UniProtKB/Swiss-Prot
  Q52LS8 UniProtKB/Swiss-Prot
  Q53SJ1 UniProtKB/Swiss-Prot
  Q6NS39 UniProtKB/Swiss-Prot
  Q6P146 UniProtKB/Swiss-Prot
  Q7Z480 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-03-01 RHOQ  ras homolog family member Q  RHOQ  ras homolog gene family, member Q  Symbol and/or name change 5135510 APPROVED