RAB10 (RAB10, member RAS oncogene family) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: RAB10 (RAB10, member RAS oncogene family) Homo sapiens
Analyze
Symbol: RAB10
Name: RAB10, member RAS oncogene family
RGD ID: 735722
HGNC Page HGNC:9759
Description: Enables GDP binding activity; GTP binding activity; and myosin V binding activity. Involved in several processes, including endoplasmic reticulum tubular network organization; endosomal transport; and establishment of protein localization to endoplasmic reticulum membrane. Located in several cellular components, including Golgi apparatus; cytoplasmic vesicle; and endoplasmic reticulum subcompartment.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: GTP-binding protein RAB10; ras-related GTP-binding protein; ras-related protein Rab-10; ras-related protein rab10
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38226,033,285 - 26,137,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl226,034,084 - 26,137,454 (+)EnsemblGRCh38hg38GRCh38
GRCh37226,256,953 - 26,360,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,110,478 - 26,213,782 (+)NCBINCBI36Build 36hg18NCBI36
Build 34226,168,624 - 26,271,929NCBI
Celera226,097,002 - 26,200,567 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,993,019 - 26,096,921 (+)NCBIHuRef
CHM1_1226,186,807 - 26,290,405 (+)NCBICHM1_1
T2T-CHM13v2.0226,069,400 - 26,172,749 (+)NCBIT2T-CHM13v2.0
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
Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Rab proteins in endocytosis and Glut4 trafficking. Kaddai V, etal., Acta Physiol (Oxf). 2008 Jan;192(1):75-88.
2. Signal transduction meets vesicle traffic: the software and hardware of GLUT4 translocation. Klip A, etal., Am J Physiol Cell Physiol. 2014 May 15;306(10):C879-86. doi: 10.1152/ajpcell.00069.2014. Epub 2014 Mar 5.
3. The GLUT4 code. Larance M, etal., Mol Endocrinol. 2008 Feb;22(2):226-33. Epub 2007 Aug 23.
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Hepatic interferon regulatory factor 8 expression mediates liver ischemia/reperfusion injury in mice. Shi G, etal., Biochem Pharmacol. 2021 Oct;192:114728. doi: 10.1016/j.bcp.2021.114728. Epub 2021 Aug 13.
6. GLUT4 translocation: the last 200 nanometers. Watson RT and Pessin JE, Cell Signal. 2007 Nov;19(11):2209-17. Epub 2007 Jun 21.
7. Insulin action on glucose transporters through molecular switches, tracks and tethers. Zaid H, etal., Biochem J. 2008 Jul 15;413(2):201-15.
Additional References at PubMed
PMID:2732579   PMID:7688123   PMID:9918381   PMID:10931946   PMID:11230166   PMID:11773082   PMID:12477932   PMID:12578829   PMID:14702039   PMID:15489334   PMID:15855153   PMID:15971998  
PMID:16154996   PMID:16169070   PMID:16344560   PMID:16641372   PMID:16923123   PMID:17207965   PMID:17215244   PMID:17255364   PMID:17353931   PMID:18504258   PMID:19008234   PMID:19056867  
PMID:19116169   PMID:19322201   PMID:19717423   PMID:19738201   PMID:20028485   PMID:20360680   PMID:20379614   PMID:20458337   PMID:20576682   PMID:20937701   PMID:21070595   PMID:21423176  
PMID:21454697   PMID:21832049   PMID:21873635   PMID:21900206   PMID:22542470   PMID:22623428   PMID:22908308   PMID:22939629   PMID:23125841   PMID:23246001   PMID:23263280   PMID:23319000  
PMID:23383273   PMID:23533145   PMID:24006491   PMID:24332808   PMID:24337577   PMID:24457600   PMID:24478353   PMID:24509846   PMID:24711643   PMID:24891604   PMID:25103239   PMID:25281560  
PMID:25416956   PMID:25457611   PMID:25468996   PMID:25659891   PMID:26082458   PMID:26289115   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26514267   PMID:26638075   PMID:26824392  
PMID:26833786   PMID:27173435   PMID:27342126   PMID:27375898   PMID:27432908   PMID:27462432   PMID:27487475   PMID:27684187   PMID:27880917   PMID:27926873   PMID:28067790   PMID:28302793  
PMID:28460436   PMID:28514442   PMID:28611215   PMID:28656962   PMID:28894007   PMID:28977666   PMID:29117863   PMID:29125462   PMID:29127255   PMID:29128334   PMID:29180619   PMID:29183403  
PMID:29229926   PMID:29331416   PMID:29478914   PMID:29507755   PMID:29509190   PMID:29562525   PMID:29564676   PMID:29568061   PMID:29693138   PMID:29845934   PMID:30021884   PMID:30194290  
PMID:30398148   PMID:30425250   PMID:30463901   PMID:30575818   PMID:30614533   PMID:30659120   PMID:30804014   PMID:30945962   PMID:31046837   PMID:31073040   PMID:31076515   PMID:31180492  
PMID:31182584   PMID:31428781   PMID:31527615   PMID:31586073   PMID:31663853   PMID:31812014   PMID:32012318   PMID:32017888   PMID:32344433   PMID:32353859   PMID:32552912   PMID:32629066  
PMID:32687490   PMID:32694731   PMID:32707033   PMID:32709066   PMID:32807901   PMID:32812023   PMID:32814769   PMID:32877691   PMID:32908313   PMID:32913203   PMID:33060197   PMID:33287942  
PMID:33301849   PMID:33334886   PMID:33479458   PMID:33644029   PMID:33766124   PMID:33961781   PMID:34079125   PMID:34110382   PMID:34125248   PMID:34189442   PMID:34209301   PMID:34285210  
PMID:34349018   PMID:34349110   PMID:34373451   PMID:34662580   PMID:34709727   PMID:34732716   PMID:35012549   PMID:35013218   PMID:35030981   PMID:35253629   PMID:35256949   PMID:35271311  
PMID:35384245   PMID:35413218   PMID:35439318   PMID:35446349   PMID:35521944   PMID:35563538   PMID:35676659   PMID:35831314   PMID:35918402   PMID:35944360   PMID:35993436   PMID:36042349  
PMID:36180527   PMID:36215168   PMID:36225252   PMID:36244648   PMID:36424410   PMID:36517590   PMID:36574265   PMID:36584595   PMID:36590901   PMID:36604567   PMID:36610398   PMID:36634849  
PMID:36636641   PMID:37218374   PMID:37437422   PMID:37536630   PMID:37548713   PMID:37689310   PMID:37709911   PMID:37827155   PMID:37931956   PMID:38110990   PMID:38113892   PMID:38247817  
PMID:38307024   PMID:38358348   PMID:38364252  


Genomics

Comparative Map Data
RAB10
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38226,033,285 - 26,137,454 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl226,034,084 - 26,137,454 (+)EnsemblGRCh38hg38GRCh38
GRCh37226,256,953 - 26,360,323 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36226,110,478 - 26,213,782 (+)NCBINCBI36Build 36hg18NCBI36
Build 34226,168,624 - 26,271,929NCBI
Celera226,097,002 - 26,200,567 (+)NCBICelera
Cytogenetic Map2p23.3NCBI
HuRef225,993,019 - 26,096,921 (+)NCBIHuRef
CHM1_1226,186,807 - 26,290,405 (+)NCBICHM1_1
T2T-CHM13v2.0226,069,400 - 26,172,749 (+)NCBIT2T-CHM13v2.0
Rab10
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39123,297,428 - 3,359,969 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl123,297,428 - 3,359,969 (-)EnsemblGRCm39 Ensembl
GRCm38123,247,428 - 3,309,969 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl123,247,428 - 3,309,969 (-)EnsemblGRCm38mm10GRCm38
MGSCv37123,247,428 - 3,309,969 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36123,247,726 - 3,309,939 (-)NCBIMGSCv36mm8
Celera123,174,851 - 3,237,418 (-)NCBICelera
Cytogenetic Map12A1.1NCBI
cM Map121.71NCBI
Rab10
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8631,974,858 - 32,039,554 (-)NCBIGRCr8
mRatBN7.2626,267,081 - 26,319,739 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl626,266,859 - 26,320,193 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx626,559,705 - 26,612,364 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0626,875,588 - 26,928,242 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0626,353,848 - 26,406,629 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0627,668,387 - 27,721,120 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl627,668,403 - 27,721,120 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0637,479,058 - 37,531,622 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.1626,260,312 - 26,297,639NCBI
Celera625,743,962 - 25,796,212 (-)NCBICelera
Cytogenetic Map6q14NCBI
Rab10
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554698,057,235 - 8,138,983 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554698,057,235 - 8,138,983 (+)NCBIChiLan1.0ChiLan1.0
RAB10
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v212100,381,221 - 100,485,143 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A100,385,189 - 100,488,306 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A26,034,046 - 26,132,658 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A26,125,984 - 26,228,505 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A26,125,985 - 26,228,505 (+)Ensemblpanpan1.1panPan2
RAB10
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11720,181,363 - 20,264,927 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1720,181,363 - 20,264,927 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1720,077,187 - 20,160,857 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01720,503,635 - 20,587,796 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1720,503,607 - 20,589,813 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11720,190,180 - 20,274,283 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01720,200,321 - 20,284,230 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01720,247,131 - 20,331,947 (+)NCBIUU_Cfam_GSD_1.0
Rab10
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629264,488,453 - 64,575,695 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364936,263,863 - 6,351,327 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364936,263,870 - 6,351,327 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RAB10
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3112,829,137 - 112,924,269 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13112,842,190 - 112,924,188 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23119,827,428 - 119,909,414 (-)NCBISscrofa10.2Sscrofa10.2susScr3
RAB10
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11481,508,800 - 81,618,172 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1481,507,031 - 81,617,983 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604530,540,276 - 30,649,087 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rab10
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247388,212,355 - 8,294,423 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247388,212,401 - 8,294,307 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RAB10
12 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1
pathogenic
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 2p23.3(chr2:25759602-27297636)x3 copy number gain See cases [RCV000052629] Chr2:25759602..27297636 [GRCh38]
Chr2:25982471..27520504 [GRCh37]
Chr2:25835975..27374008 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 copy number gain See cases [RCV000135398] Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2
pathogenic
GRCh38/hg38 2p23.3(chr2:25064306-27154398)x1 copy number loss See cases [RCV000137065] Chr2:25064306..27154398 [GRCh38]
Chr2:25287175..27377266 [GRCh37]
Chr2:25140679..27230770 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 copy number gain See cases [RCV000137344] Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3
pathogenic
GRCh38/hg38 2p23.3(chr2:25819153-26272376)x1 copy number loss See cases [RCV000141873] Chr2:25819153..26272376 [GRCh38]
Chr2:26042022..26495244 [GRCh37]
Chr2:25895526..26348748 [NCBI36]
Chr2:2p23.3
uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3
pathogenic
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 2p24.1-23.2(chr2:22579652-28525186)x1 copy number loss See cases [RCV000142071] Chr2:22579652..28525186 [GRCh38]
Chr2:22802524..28748053 [GRCh37]
Chr2:22656029..28601557 [NCBI36]
Chr2:2p24.1-23.2
pathogenic
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21
pathogenic
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 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3
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 2p23.3(chr2:24315204-26384655)x3 copy number gain not provided [RCV000682143] Chr2:24315204..26384655 [GRCh37]
Chr2:2p23.3
uncertain significance
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 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 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21
likely pathogenic
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21
pathogenic
NM_016131.5(RAB10):c.189-1G>T single nucleotide variant CIC-DUX Sarcoma [RCV000993815] Chr2:26109767 [GRCh38]
Chr2:26332636 [GRCh37]
Chr2:2p23.3
not provided
NM_016131.5(RAB10):c.522C>A (p.Thr174=) single nucleotide variant not provided [RCV000886366] Chr2:26134940 [GRCh38]
Chr2:26357809 [GRCh37]
Chr2:2p23.3
benign
GRCh37/hg19 2p23.3(chr2:25938039-26385614)x3 copy number gain not provided [RCV001259153] Chr2:25938039..26385614 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
NC_000002.11:g.(?_24443763)_(27746306_?)dup duplication Short-rib thoracic dysplasia 10 with or without polydactyly [RCV001911738] Chr2:24443763..27746306 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_016131.5(RAB10):c.385A>G (p.Lys129Glu) single nucleotide variant not provided [RCV002224933] Chr2:26127201 [GRCh38]
Chr2:26350070 [GRCh37]
Chr2:2p23.3
uncertain significance
NC_000002.11:g.(?_24443763)_(29022169_?)dup duplication Tatton-Brown-Rahman overgrowth syndrome [RCV003113871]|not provided [RCV003113870] Chr2:24443763..29022169 [GRCh37]
Chr2:2p23.3-23.2
uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_24443763)_(30143525_?)dup duplication not provided [RCV003113441] Chr2:24443763..30143525 [GRCh37]
Chr2:2p23.3-23.1
uncertain significance
GRCh37/hg19 2p23.3(chr2:24641638-26473160)x1 copy number loss Tatton-Brown-Rahman overgrowth syndrome [RCV002276513] Chr2:24641638..26473160 [GRCh37]
Chr2:2p23.3
not provided
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13
pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3
pathogenic
NM_016131.5(RAB10):c.551T>C (p.Val184Ala) single nucleotide variant not specified [RCV004138268] Chr2:26134969 [GRCh38]
Chr2:26357838 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:24962301-26257604)x1 copy number loss not provided [RCV003223075] Chr2:24962301..26257604 [GRCh37]
Chr2:2p23.3
uncertain significance
NM_016131.5(RAB10):c.590G>T (p.Ser197Ile) single nucleotide variant not provided [RCV003415524] Chr2:26135008 [GRCh38]
Chr2:26357877 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p23.3(chr2:25929370-26572068)x1 copy number loss not specified [RCV003986372] Chr2:25929370..26572068 [GRCh37]
Chr2:2p23.3
uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3
pathogenic
NM_016131.5(RAB10):c.302G>C (p.Ser101Thr) single nucleotide variant not specified [RCV004442938] Chr2:26109881 [GRCh38]
Chr2:26332750 [GRCh37]
Chr2:2p23.3
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR375hsa-miR-375Mirtarbaseexternal_infoqRT-PCR;MicroarrayFunctional MTI (Weak)20584986
MIR375hsa-miR-375Tarbaseexternal_infoqPCRPOSITIVE

Predicted Target Of
Summary Value
Count of predictions:1232
Count of miRNA genes:647
Interacting mature miRNAs:721
Transcripts:ENST00000264710, ENST00000462003, ENST00000473035, ENST00000495146
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.

Markers in Region
D2S1559E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,358,973 - 26,359,103UniSTSGRCh37
Build 36226,212,477 - 26,212,607RGDNCBI36
Celera226,199,217 - 26,199,347RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,095,571 - 26,095,701UniSTS
WI-20600  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,359,309 - 26,359,558UniSTSGRCh37
Build 36226,212,813 - 26,213,062RGDNCBI36
Celera226,199,553 - 26,199,802RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,095,907 - 26,096,156UniSTS
GeneMap99-GB4 RH Map290.83UniSTS
Whitehead-RH Map2150.2UniSTS
RAB10_1045  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,359,420 - 26,360,300UniSTSGRCh37
Build 36226,212,924 - 26,213,804RGDNCBI36
Celera226,199,664 - 26,200,544RGD
HuRef226,096,018 - 26,096,898UniSTS
G09238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,319,166 - 26,319,364UniSTSGRCh37
Build 36226,172,670 - 26,172,868RGDNCBI36
Celera226,159,436 - 26,159,626RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,055,295 - 26,055,485UniSTS
D2S2926  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,359,390 - 26,359,525UniSTSGRCh37
Build 36226,212,894 - 26,213,029RGDNCBI36
Celera226,199,634 - 26,199,769RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,095,988 - 26,096,123UniSTS
A008Q03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,257,026 - 26,257,126UniSTSGRCh37
Build 36226,110,530 - 26,110,630RGDNCBI36
Celera226,097,299 - 26,097,399RGD
Cytogenetic Map2p23.3UniSTS
HuRef225,993,316 - 25,993,416UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
G16405  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,338,659 - 26,338,761UniSTSGRCh37
Build 36226,192,163 - 26,192,265RGDNCBI36
Celera226,178,915 - 26,179,016RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,075,029 - 26,075,130UniSTS
A009V12  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,300,540 - 26,300,664UniSTSGRCh37
Build 36226,154,044 - 26,154,168RGDNCBI36
Celera226,140,832 - 26,140,956RGD
Cytogenetic Map2p23.3UniSTS
HuRef226,036,737 - 26,036,861UniSTS
GeneMap99-GB4 RH Map289.92UniSTS
G32873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37226,300,540 - 26,300,664UniSTSGRCh37
Celera226,140,832 - 26,140,956UniSTS
Cytogenetic Map2p23.3UniSTS
HuRef226,036,737 - 26,036,861UniSTS


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 2
Medium 2432 2808 1709 608 1877 450 4355 2094 3692 416 1446 1608 172 1204 2788 4
Low 6 183 16 16 74 15 2 102 39 3 11 5 2 1 2
Below cutoff 1 3 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_016131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047443004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013449 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF086917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF091032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF106681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF297660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF498945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136650 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL517754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR457303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA295568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000264710   ⟹   ENSP00000264710
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl226,034,084 - 26,137,454 (+)Ensembl
RefSeq Acc Id: ENST00000462003
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl226,098,530 - 26,135,036 (+)Ensembl
RefSeq Acc Id: ENST00000473035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl226,098,530 - 26,135,068 (+)Ensembl
RefSeq Acc Id: ENST00000495146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl226,034,107 - 26,135,347 (+)Ensembl
RefSeq Acc Id: NM_016131   ⟹   NP_057215
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,034,084 - 26,137,454 (+)NCBI
GRCh37226,256,729 - 26,360,323 (+)ENTREZGENE
Build 36226,110,478 - 26,213,782 (+)NCBI Archive
HuRef225,993,019 - 26,096,921 (+)ENTREZGENE
CHM1_1226,186,807 - 26,290,405 (+)NCBI
T2T-CHM13v2.0226,069,400 - 26,172,749 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047443004   ⟹   XP_047298960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,033,285 - 26,137,454 (+)NCBI
RefSeq Acc Id: NP_057215   ⟸   NM_016131
- UniProtKB: Q9D7X6 (UniProtKB/Swiss-Prot),   Q6IA52 (UniProtKB/Swiss-Prot),   O88386 (UniProtKB/Swiss-Prot),   D6W538 (UniProtKB/Swiss-Prot),   Q9H0T3 (UniProtKB/Swiss-Prot),   P61026 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000264710   ⟸   ENST00000264710
RefSeq Acc Id: XP_047298960   ⟸   XM_047443004
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P61026-F1-model_v2 AlphaFold P61026 1-200 view protein structure

Promoters
RGD ID:6859818
Promoter ID:EPDNEW_H3073
Type:multiple initiation site
Name:RAB10_3
Description:RAB10, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3074  EPDNEW_H3075  EPDNEW_H3076  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,032,661 - 26,032,721EPDNEW
RGD ID:6859820
Promoter ID:EPDNEW_H3074
Type:initiation region
Name:RAB10_4
Description:RAB10, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3073  EPDNEW_H3075  EPDNEW_H3076  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,033,599 - 26,033,659EPDNEW
RGD ID:6859822
Promoter ID:EPDNEW_H3075
Type:initiation region
Name:RAB10_1
Description:RAB10, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3073  EPDNEW_H3074  EPDNEW_H3076  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,034,084 - 26,034,144EPDNEW
RGD ID:6859824
Promoter ID:EPDNEW_H3076
Type:initiation region
Name:RAB10_2
Description:RAB10, member RAS oncogene family
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H3073  EPDNEW_H3074  EPDNEW_H3075  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38226,034,438 - 26,034,498EPDNEW
RGD ID:6798044
Promoter ID:HG_KWN:31842
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000211610,   OTTHUMT00000317197
Position:
Human AssemblyChrPosition (strand)Source
Build 36226,109,791 - 26,110,567 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9759 AgrOrtholog
COSMIC RAB10 COSMIC
Ensembl Genes ENSG00000084733 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000264710 ENTREZGENE
  ENST00000264710.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.40.50.300 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000084733 GTEx
HGNC ID HGNC:9759 ENTREZGENE
Human Proteome Map RAB10 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
KEGG Report hsa:10890 UniProtKB/Swiss-Prot
NCBI Gene 10890 ENTREZGENE
OMIM 612672 OMIM
PANTHER LD44762P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS-RELATED PROTEIN RAB-10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ras UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA34100 PharmGKB
PRINTS RASTRNSFRMNG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAS UniProtKB/TrEMBL
SMART ARF UniProtKB/Swiss-Prot
  RAB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RAN UniProtKB/Swiss-Prot
  RAS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF52540 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt D6W538 ENTREZGENE
  O88386 ENTREZGENE
  P61026 ENTREZGENE
  Q53SX4_HUMAN UniProtKB/TrEMBL
  Q53T70_HUMAN UniProtKB/TrEMBL
  Q6IA52 ENTREZGENE
  Q9D7X6 ENTREZGENE
  Q9H0T3 ENTREZGENE
  Q9UL28_HUMAN UniProtKB/TrEMBL
  RAB10_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D6W538 UniProtKB/Swiss-Prot
  O88386 UniProtKB/Swiss-Prot
  Q6IA52 UniProtKB/Swiss-Prot
  Q9D7X6 UniProtKB/Swiss-Prot
  Q9H0T3 UniProtKB/Swiss-Prot