TBC1D8 (TBC1 domain family member 8) - Rat Genome Database
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Gene: TBC1D8 (TBC1 domain family member 8) Homo sapiens
Analyze
Symbol: TBC1D8
Name: TBC1 domain family member 8
RGD ID: 1347118
HGNC Page HGNC
Description: Predicted to have GTPase activator activity and Rab GTPase binding activity. Predicted to be involved in activation of GTPase activity and intracellular protein transport. Predicted to localize to membrane; INTERACTS WITH 17beta-estradiol; 17beta-hydroxy-5alpha-androstan-3-one; 2,3,7,8-tetrachlorodibenzodioxine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: AD 3; AD3; BUB2-like protein 1; GRAMD8; HBLP1; TBC1 domain family, member 8 (with GRAM domain); TBC1 domain family, member 8A; TBC1D8A; vascular Rab-GAP/TBC-containing protein; VRP
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 Ensembl2101,007,617 - 101,252,866 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2101,007,228 - 101,252,866 (-)EnsemblGRCh38hg38GRCh38
GRCh382101,006,435 - 101,195,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372101,623,690 - 101,767,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362100,990,122 - 101,134,278 (-)NCBINCBI36hg18NCBI36
Build 342101,082,208 - 101,134,521NCBI
Celera295,827,603 - 95,971,825 (-)NCBI
Cytogenetic Map2q11.2NCBI
HuRef295,387,733 - 95,470,953 (-)NCBIHuRef
CHM1_12101,628,017 - 101,772,187 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (TAS)

Molecular Function

References

References - curated
1. GOA_HUMAN data from the GO Consortium
2. RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10373574   PMID:10737800   PMID:12023963   PMID:14702039   PMID:15851553   PMID:16344560   PMID:17646400   PMID:17686842   PMID:19077034   PMID:20548944   PMID:21873635   PMID:22779921  
PMID:24104479   PMID:26496610   PMID:30809301   PMID:32296183  


Genomics

Comparative Map Data
TBC1D8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2101,007,617 - 101,252,866 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl2101,007,228 - 101,252,866 (-)EnsemblGRCh38hg38GRCh38
GRCh382101,006,435 - 101,195,321 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372101,623,690 - 101,767,858 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362100,990,122 - 101,134,278 (-)NCBINCBI36hg18NCBI36
Build 342101,082,208 - 101,134,521NCBI
Celera295,827,603 - 95,971,825 (-)NCBI
Cytogenetic Map2q11.2NCBI
HuRef295,387,733 - 95,470,953 (-)NCBIHuRef
CHM1_12101,628,017 - 101,772,187 (-)NCBICHM1_1
Tbc1d8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39139,410,576 - 39,517,860 (-)NCBIGRCm39mm39
GRCm38139,371,495 - 39,478,778 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl139,371,492 - 39,478,755 (-)EnsemblGRCm38mm10GRCm38
MGSCv37139,428,340 - 39,535,592 (-)NCBIGRCm37mm9NCBIm37
MGSCv36139,316,046 - 39,423,281 (-)NCBImm8
Celera139,165,425 - 39,272,500 (-)NCBICelera
Cytogenetic Map1BNCBI
Tbc1d8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.0946,090,613 - 46,206,672 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl946,090,019 - 46,206,605 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0945,778,864 - 45,893,710 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4938,443,425 - 38,554,183 (-)NCBIRGSC3.4rn4RGSC3.4
Celera939,400,963 - 39,510,757 (-)NCBICelera
Cytogenetic Map9q22NCBI
Tbc1d8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554706,917,119 - 6,977,937 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554706,916,553 - 7,012,358 (-)NCBIChiLan1.0ChiLan1.0
TBC1D8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12A101,983,337 - 102,066,327 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A101,983,337 - 102,069,516 (-)Ensemblpanpan1.1panPan2
TBC1D8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1041,729,623 - 41,835,075 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11041,718,975 - 41,831,950 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tbc1d8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493666124,274 - 86,066 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl353,149,095 - 53,289,795 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1353,149,059 - 53,289,249 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2355,689,868 - 55,835,478 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D8
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl144,716,368 - 4,846,357 (-)Ensembl
ChlSab1.1144,715,787 - 4,846,284 (-)NCBI
Tbc1d8
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247495,800,751 - 5,897,400 (-)NCBI

Position Markers
G16341  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,661,008 - 101,661,226UniSTSGRCh37
Build 362101,027,440 - 101,027,658RGDNCBI36
Celera295,864,974 - 95,865,192RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,425,092 - 95,425,310UniSTS
HSC1GA012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,631,622 - 101,631,828UniSTSGRCh37
Build 362100,998,054 - 100,998,260RGDNCBI36
Celera295,835,527 - 95,835,733RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,395,663 - 95,395,869UniSTS
Whitehead-RH Map2483.7UniSTS
RH98384  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,643,108 - 101,643,248UniSTSGRCh37
Build 362101,009,540 - 101,009,680RGDNCBI36
Celera295,847,071 - 95,847,211RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,407,188 - 95,407,328UniSTS
GeneMap99-GB4 RH Map2355.8UniSTS
SHGC-2424  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,660,559 - 101,660,614UniSTSGRCh37
Build 362101,026,991 - 101,027,046RGDNCBI36
Celera295,864,525 - 95,864,580RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,424,643 - 95,424,698UniSTS
G43290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,622,468 - 101,622,870UniSTSGRCh37
Build 362100,988,900 - 100,989,302RGDNCBI36
Celera295,826,381 - 95,826,783RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,386,510 - 95,386,913UniSTS
SGC32211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,628,927 - 101,629,077UniSTSGRCh37
Build 362100,995,359 - 100,995,509RGDNCBI36
Celera295,832,832 - 95,832,982RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,392,964 - 95,393,114UniSTS
Whitehead-RH Map2511.4UniSTS
SHGC-78655  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,692,810 - 101,693,087UniSTSGRCh37
Build 362101,059,242 - 101,059,519RGDNCBI36
Celera295,896,778 - 95,897,055RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,456,951 - 95,457,228UniSTS
TNG Radiation Hybrid Map259233.0UniSTS
D2S1646E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,628,899 - 101,629,048UniSTSGRCh37
Build 362100,995,331 - 100,995,480RGDNCBI36
Celera295,832,804 - 95,832,953RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,392,936 - 95,393,085UniSTS
GDB:451770  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,628,893 - 101,629,048UniSTSGRCh37
Build 362100,995,325 - 100,995,480RGDNCBI36
Celera295,832,798 - 95,832,953RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,392,930 - 95,393,085UniSTS
SHGC-106096  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,663,918 - 101,664,238UniSTSGRCh37
Build 362101,030,350 - 101,030,670RGDNCBI36
Celera295,867,884 - 95,868,204RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,428,002 - 95,428,322UniSTS
TNG Radiation Hybrid Map259219.0UniSTS
RH70503  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,635,685 - 101,635,911UniSTSGRCh37
Build 362101,002,117 - 101,002,343RGDNCBI36
Celera295,839,590 - 95,839,816RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,399,722 - 95,399,948UniSTS
GeneMap99-GB4 RH Map2356.56UniSTS
RP_L31_1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,622,537 - 101,622,748UniSTSGRCh37
Build 362100,988,969 - 100,989,180RGDNCBI36
Celera295,826,450 - 95,826,661RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,386,579 - 95,386,791UniSTS
GeneMap99-GB4 RH Map2356.12UniSTS
Whitehead-RH Map2519.9UniSTS
TBC1D8__5222  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,623,676 - 101,624,444UniSTSGRCh37
Build 362100,990,108 - 100,990,876RGDNCBI36
Celera295,827,589 - 95,828,357RGD
HuRef295,387,719 - 95,388,487UniSTS
A005M35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,627,768 - 101,627,904UniSTSGRCh37
Build 362100,994,200 - 100,994,336RGDNCBI36
Celera295,831,673 - 95,831,809RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,391,805 - 95,391,941UniSTS
GeneMap99-GB4 RH Map2356.78UniSTS
NCBI RH Map2613.0UniSTS
D2S2760  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,660,483 - 101,660,614UniSTSGRCh37
Build 362101,026,915 - 101,027,046RGDNCBI36
Celera295,864,449 - 95,864,580RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,424,567 - 95,424,698UniSTS
WI-18129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,622,731 - 101,622,855UniSTSGRCh37
Build 362100,989,163 - 100,989,287RGDNCBI36
Celera295,826,644 - 95,826,768RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,386,774 - 95,386,898UniSTS
GeneMap99-GB4 RH Map2356.02UniSTS
Whitehead-RH Map2549.5UniSTS
NCBI RH Map2564.2UniSTS
RH12325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,635,752 - 101,635,904UniSTSGRCh37
Build 362101,002,184 - 101,002,336RGDNCBI36
Celera295,839,657 - 95,839,809RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,399,789 - 95,399,941UniSTS
GeneMap99-GB4 RH Map2355.47UniSTS
NCBI RH Map2517.3UniSTS
WIAF-2217  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,628,825 - 101,629,024UniSTSGRCh37
Build 362100,995,257 - 100,995,456RGDNCBI36
Celera295,832,730 - 95,832,929RGD
Cytogenetic Map2q11.2UniSTS
HuRef295,392,862 - 95,393,061UniSTS
GeneMap99-GB4 RH Map2356.99UniSTS
GDB:631802  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p35.3-p33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map3q21-q22UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map2q21UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map20p11.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map2p24.1UniSTS
SGC30319  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q11.2UniSTS
HuRef295,386,462 - 95,386,588UniSTS
GeneMap99-GB4 RH Map2356.78UniSTS
Whitehead-RH Map2521.3UniSTS
NCBI RH Map2613.0UniSTS
D2S2662  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q23.3UniSTS
Whitehead-YAC Contig Map2 UniSTS
TBC1D8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372101,627,393 - 101,627,996UniSTSGRCh37
Celera295,831,298 - 95,831,901UniSTS
HuRef295,391,430 - 95,392,033UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1877
Count of miRNA genes:782
Interacting mature miRNAs:922
Transcripts:ENST00000376840, ENST00000409318, ENST00000462819, ENST00000463469, ENST00000473937, ENST00000481317, ENST00000485851, ENST00000485875, ENST00000487392, ENST00000494011
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


Expression


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 1634 2245 1237 496 891 347 4091 1743 1355 253 1388 1428 160 1080 2628 2
Low 805 740 488 128 1017 118 265 454 2366 166 72 184 15 1 124 160 4 2
Below cutoff 6 1 42 13 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001102426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_138475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263862 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005263864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011510508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB017114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL134328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE842460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ673509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA429937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD722231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB079019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB201187 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC383710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC415735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR001338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000376840   ⟹   ENSP00000366036
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,007,617 - 101,151,253 (-)Ensembl
RefSeq Acc Id: ENST00000409318   ⟹   ENSP00000386856
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,007,617 - 101,151,384 (-)Ensembl
RefSeq Acc Id: ENST00000462819
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,187,824 - 101,252,855 (-)Ensembl
RefSeq Acc Id: ENST00000463469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,090,253 - 101,252,866 (-)Ensembl
RefSeq Acc Id: ENST00000473937
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,028,303 - 101,032,944 (-)Ensembl
RefSeq Acc Id: ENST00000481317
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,028,467 - 101,032,481 (-)Ensembl
RefSeq Acc Id: ENST00000485851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,187,984 - 101,252,864 (-)Ensembl
RefSeq Acc Id: ENST00000485875
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,028,345 - 101,029,972 (-)Ensembl
RefSeq Acc Id: ENST00000487392
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,059,452 - 101,109,963 (-)Ensembl
RefSeq Acc Id: ENST00000494011
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2101,011,040 - 101,022,373 (-)Ensembl
RefSeq Acc Id: NM_001102426   ⟹   NP_001095896
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,151,382 (-)NCBI
GRCh372101,623,690 - 101,767,858 (-)NCBI
Build 362100,990,122 - 101,134,278 (-)NCBI Archive
Celera295,827,603 - 95,971,825 (-)RGD
HuRef295,387,733 - 95,470,953 (-)ENTREZGENE
CHM1_12101,628,017 - 101,772,187 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330348   ⟹   NP_001317277
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,151,382 (-)NCBI
Sequence:
RefSeq Acc Id: NR_138475
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,151,382 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263862   ⟹   XP_005263919
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,006,435 - 101,110,337 (-)NCBI
GRCh372101,623,690 - 101,767,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005263864   ⟹   XP_005263921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,110,334 (-)NCBI
GRCh372101,623,690 - 101,767,858 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510507   ⟹   XP_011508809
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,195,321 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011510508   ⟹   XP_011508810
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,032,298 - 101,151,421 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003198   ⟹   XP_016858687
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,110,349 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003199   ⟹   XP_016858688
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,007,228 - 101,110,347 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003200   ⟹   XP_016858689
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,032,298 - 101,110,367 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003201   ⟹   XP_016858690
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,028,339 - 101,110,359 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017003202   ⟹   XP_016858691
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382101,028,349 - 101,110,401 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001095896   ⟸   NM_001102426
- Peptide Label: isoform 2
- UniProtKB: O95759 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005263921   ⟸   XM_005263864
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_005263919   ⟸   XM_005263862
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011508809   ⟸   XM_011510507
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011508810   ⟸   XM_011510508
- Peptide Label: isoform X7
- Sequence:
RefSeq Acc Id: XP_016858687   ⟸   XM_017003198
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016858688   ⟸   XM_017003199
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016858690   ⟸   XM_017003201
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016858691   ⟸   XM_017003202
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016858689   ⟸   XM_017003200
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: NP_001317277   ⟸   NM_001330348
- Peptide Label: isoform 1
- UniProtKB: J3KQ40 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000366036   ⟸   ENST00000376840
RefSeq Acc Id: ENSP00000386856   ⟸   ENST00000409318
Protein Domains
GRAM   Rab-GAP TBC

Promoters
RGD ID:6798308
Promoter ID:HG_KWN:34153
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:OTTHUMT00000329182,   OTTHUMT00000329183
Position:
Human AssemblyChrPosition (strand)Source
Build 362101,015,126 - 101,015,626 (-)MPROMDB
RGD ID:6798324
Promoter ID:HG_KWN:34156
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000409318,   NM_001102426,   UC002TAV.2
Position:
Human AssemblyChrPosition (strand)Source
Build 362101,133,596 - 101,135,787 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3 copy number gain See cases [RCV000050836] Chr2:100378510..108472871 [GRCh38]
Chr2:100994972..109089327 [GRCh37]
Chr2:100361404..108455759 [NCBI36]
Chr2:2q11.2-12.3
pathogenic
GRCh38/hg38 2q11.2(chr2:101080018-101646523)x3 copy number gain See cases [RCV000052668] Chr2:101080018..101646523 [GRCh38]
Chr2:101696480..102262985 [GRCh37]
Chr2:101062912..101629417 [NCBI36]
Chr2:2q11.2
uncertain significance
GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3 copy number gain See cases [RCV000052946] Chr2:94817406..103252396 [GRCh38]
Chr2:95618109..103868854 [GRCh37]
Chr2:94846878..103235286 [NCBI36]
Chr2:2q11.1-12.1
pathogenic
GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3 copy number gain See cases [RCV000052947] Chr2:97672522..110211318 [GRCh38]
Chr2:98288985..110968895 [GRCh37]
Chr2:97655417..110326184 [NCBI36]
Chr2:2q11.2-13
pathogenic
GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3 copy number gain See cases [RCV000052945] Chr2:91443218..102334856 [GRCh38]
Chr2:91617683..102951316 [GRCh37]
Chr2:90981410..102317748 [NCBI36]
Chr2:2p11.2-q11.2
pathogenic
GRCh38/hg38 2q11.2(chr2:99253497-101559639)x3 copy number gain See cases [RCV000136916] Chr2:99253497..101559639 [GRCh38]
Chr2:99869960..102176101 [GRCh37]
Chr2:99236392..101542533 [NCBI36]
Chr2:2q11.2
uncertain significance
GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1 copy number loss See cases [RCV000139206] Chr2:98411773..101636907 [GRCh38]
Chr2:99028236..102253369 [GRCh37]
Chr2:98394668..101619801 [NCBI36]
Chr2:2q11.2
likely pathogenic
GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3 copy number gain See cases [RCV000141075] Chr2:94678532..110602409 [GRCh38]
Chr2:95344257..111359986 [GRCh37]
Chr2:94707984..111076455 [NCBI36]
Chr2:2q11.1-13
pathogenic
GRCh38/hg38 2q11.2(chr2:100705617-101466731)x3 copy number gain See cases [RCV000140755] Chr2:100705617..101466731 [GRCh38]
Chr2:101322079..102083193 [GRCh37]
Chr2:100688511..101449625 [NCBI36]
Chr2:2q11.2
uncertain significance
GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3 copy number gain See cases [RCV000141445] Chr2:100478285..106498909 [GRCh38]
Chr2:101094747..107115365 [GRCh37]
Chr2:100461179..106481797 [NCBI36]
Chr2:2q11.2-12.2
uncertain significance
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(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3
pathogenic
GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266) copy number gain See cases [RCV000449270] Chr2:95529039..108518266 [GRCh37]
Chr2:2q11.1-12.3
pathogenic
GRCh37/hg19 2q11.1-13(chr2:95327499-111370025)x4 copy number gain See cases [RCV000446842] Chr2:95327499..111370025 [GRCh37]
Chr2:2q11.1-13
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 2q11.1-12.2(chr2:95518497-107186127) copy number gain See cases [RCV000511158] Chr2:95518497..107186127 [GRCh37]
Chr2:2q11.1-12.2
uncertain significance
GRCh37/hg19 2q11.2(chr2:101320204-102094813)x3 copy number gain See cases [RCV000511302] Chr2:101320204..102094813 [GRCh37]
Chr2:2q11.2
uncertain significance
GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3 copy number gain not provided [RCV000682168] Chr2:96353030..114045463 [GRCh37]
Chr2:2q11.1-13
pathogenic
Single allele inversion not provided [RCV000714264] Chr2:40608411..146900718 [GRCh37]
Chr2:2p22.1-q22.3
likely pathogenic
NM_001330348.1(TBC1D8):c.525C>T (p.Val175=) single nucleotide variant not provided [RCV000958568] Chr2:101054214 [GRCh38]
Chr2:101670676 [GRCh37]
Chr2:2q11.2
benign
NM_001330348.1(TBC1D8):c.972G>A (p.Thr324=) single nucleotide variant not provided [RCV000885462] Chr2:101040286 [GRCh38]
Chr2:101656748 [GRCh37]
Chr2:2q11.2
benign
NM_001330348.1(TBC1D8):c.3225T>C (p.Phe1075=) single nucleotide variant not provided [RCV000954884] Chr2:101008064 [GRCh38]
Chr2:101624526 [GRCh37]
Chr2:2q11.2
benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17791 AgrOrtholog
COSMIC TBC1D8 COSMIC
Ensembl Genes ENSG00000204634 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000366036 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000386856 ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENST00000376840 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000409318 ENTREZGENE, UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000204634 GTEx
HGNC ID HGNC:17791 ENTREZGENE
Human Proteome Map TBC1D8 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase-TBC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rab-GTPase_TBC_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1D8_PH-GRAM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC1D8_PH-GRAM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11138 UniProtKB/Swiss-Prot
NCBI Gene 11138 ENTREZGENE
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134885935 PharmGKB
PROSITE TBC_RABGAP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47923 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.442657 ENTREZGENE
UniProt J3KQ40 ENTREZGENE, UniProtKB/TrEMBL
  O95759 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NDL4 UniProtKB/Swiss-Prot
  A8K9W1 UniProtKB/Swiss-Prot
  B9A6K4 UniProtKB/Swiss-Prot
  Q53SQ4 UniProtKB/Swiss-Prot
  Q9UQ32 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D8  TBC1 domain family member 8    TBC1 domain family, member 8 (with GRAM domain)  Symbol and/or name change 5135510 APPROVED