TBC1D9B (TBC1 domain family member 9B) - Rat Genome Database
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Gene: TBC1D9B (TBC1 domain family member 9B) Homo sapiens
Analyze
Symbol: TBC1D9B
Name: TBC1 domain family member 9B
RGD ID: 1604633
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 integral component of membrane; INTERACTS WITH (+)-catechin; 3-isobutyl-1-methyl-7H-xanthine; 4,4'-sulfonyldiphenol.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: FLJ41880; GRAMD9B; KIAA0676; MGC157757; TBC1 domain family, member 9B (with GRAM domain)
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 Ensembl5179,862,066 - 179,907,859 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl5179,862,066 - 179,907,897 (-)EnsemblGRCh38hg38GRCh38
GRCh385179,862,071 - 179,907,897 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375179,289,071 - 179,334,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,221,677 - 179,267,464 (-)NCBINCBI36hg18NCBI36
Celera5174,914,219 - 174,960,020 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5174,013,821 - 174,059,392 (-)NCBIHuRef
CHM1_15178,721,413 - 178,767,291 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:8125298   PMID:9734811   PMID:12477932   PMID:14702039   PMID:16303743   PMID:17646400   PMID:19077034   PMID:21832049   PMID:21873635   PMID:22354992   PMID:22939629   PMID:23383273  
PMID:25416956   PMID:25959826   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26618866   PMID:28380382   PMID:28514442   PMID:29507755   PMID:30202024   PMID:30833792   PMID:31073040  
PMID:31980649   PMID:32296183  


Genomics

Comparative Map Data
TBC1D9B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl5179,862,066 - 179,907,859 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl5179,862,066 - 179,907,897 (-)EnsemblGRCh38hg38GRCh38
GRCh385179,862,071 - 179,907,897 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh375179,289,071 - 179,334,879 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 365179,221,677 - 179,267,464 (-)NCBINCBI36hg18NCBI36
Celera5174,914,219 - 174,960,020 (-)NCBI
Cytogenetic Map5q35.3NCBI
HuRef5174,013,821 - 174,059,392 (-)NCBIHuRef
CHM1_15178,721,413 - 178,767,291 (-)NCBICHM1_1
Tbc1d9b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391150,021,891 - 50,063,612 (+)NCBIGRCm39mm39
GRCm381150,131,059 - 50,172,785 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1150,131,396 - 50,172,785 (+)EnsemblGRCm38mm10GRCm38
MGSCv371149,944,862 - 49,986,287 (+)NCBIGRCm37mm9NCBIm37
MGSCv361149,974,783 - 50,016,208 (+)NCBImm8
Celera1154,691,528 - 54,733,141 (+)NCBICelera
Cytogenetic Map11B1.3NCBI
Tbc1d9b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01035,637,103 - 35,677,335 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1035,637,133 - 35,677,329 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01035,397,640 - 35,436,149 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41035,686,754 - 35,721,323 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11035,506,285 - 35,721,082 (+)NCBI
Celera1033,809,345 - 33,847,569 (+)NCBICelera
Cytogenetic Map10q22NCBI
Tbc1d9b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955408690,829 - 724,384 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955408690,827 - 724,987 (+)NCBIChiLan1.0ChiLan1.0
TBC1D9B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.15182,343,899 - 182,387,140 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5182,343,899 - 182,387,225 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v05175,021,717 - 175,067,970 (-)NCBIMhudiblu_PPA_v0panPan3
TBC1D9B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl111,781,641 - 1,829,895 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1111,793,525 - 1,831,773 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Tbc1d9b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936739872,362 - 919,570 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TBC1D9B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl278,515,424 - 78,726,999 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1278,675,867 - 78,726,391 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2280,241,932 - 80,292,784 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TBC1D9B
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl2381,594,392 - 81,635,808 (-)Ensembl
ChlSab1.12381,595,246 - 81,635,828 (-)NCBI
Tbc1d9b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473342,719,641 - 42,752,559 (-)NCBI

Position Markers
WI-20921  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,289,141 - 179,289,409UniSTSGRCh37
Build 365179,221,747 - 179,222,015RGDNCBI36
Celera5174,914,289 - 174,914,557RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,013,891 - 174,014,159UniSTS
GeneMap99-GB4 RH Map5645.92UniSTS
Whitehead-RH Map5544.1UniSTS
RH94087  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,310,772 - 179,310,893UniSTSGRCh37
Build 365179,243,378 - 179,243,499RGDNCBI36
Celera5174,935,918 - 174,936,039RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,035,331 - 174,035,452UniSTS
GeneMap99-GB4 RH Map5652.03UniSTS
D5S2217E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,299,667 - 179,299,771UniSTSGRCh37
Build 365179,232,273 - 179,232,377RGDNCBI36
Celera5174,924,815 - 174,924,919RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,024,233 - 174,024,337UniSTS
D5S2232E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,298,063 - 179,298,166UniSTSGRCh37
Build 365179,230,669 - 179,230,772RGDNCBI36
Celera5174,923,211 - 174,923,314RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,022,770 - 174,022,873UniSTS
D5S2285E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,291,297 - 179,291,445UniSTSGRCh37
Build 365179,223,903 - 179,224,051RGDNCBI36
Celera5174,916,445 - 174,916,593RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,016,047 - 174,016,195UniSTS
D5S2295E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,289,856 - 179,289,959UniSTSGRCh37
Build 365179,222,462 - 179,222,565RGDNCBI36
Celera5174,915,004 - 174,915,107RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,014,606 - 174,014,709UniSTS
bac51950T  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,315,482 - 179,315,691UniSTSGRCh37
Build 365179,248,088 - 179,248,297RGDNCBI36
Celera5174,940,628 - 174,940,837RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,040,041 - 174,040,250UniSTS
SGC34653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,289,743 - 179,289,892UniSTSGRCh37
Build 365179,222,349 - 179,222,498RGDNCBI36
Celera5174,914,891 - 174,915,040RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,014,493 - 174,014,642UniSTS
GeneMap99-GB4 RH Map5652.03UniSTS
Whitehead-RH Map5548.2UniSTS
WIAF-2213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375179,289,866 - 179,289,988UniSTSGRCh37
Build 365179,222,472 - 179,222,594RGDNCBI36
Celera5174,915,014 - 174,915,136RGD
Cytogenetic Map5q35.3UniSTS
HuRef5174,014,616 - 174,014,738UniSTS
GeneMap99-GB4 RH Map5653.9UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR191hsa-miR-191-3pMirtarbaseexternal_infoCLASHFunctional MTI (Weak)23622248

Predicted Target Of
Summary Value
Count of predictions:7511
Count of miRNA genes:1180
Interacting mature miRNAs:1504
Transcripts:ENST00000355235, ENST00000356834, ENST00000444477, ENST00000517782, ENST00000518085, ENST00000518115, ENST00000518120, ENST00000518459, ENST00000519746, ENST00000519757, ENST00000520794, ENST00000520912, ENST00000521469, ENST00000521669, ENST00000522029, ENST00000522180, ENST00000522224, ENST00000522472, ENST00000522921, ENST00000524222
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 2435 2519 1678 580 1670 421 4347 2006 3715 410 1454 1607 175 1 1204 2779 5 2
Low 4 472 48 44 280 44 10 191 19 9 6 6 9 1
Below cutoff 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB014576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB449893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001473 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK223509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC080659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC110400 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC129994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM459848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU183640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000355235   ⟹   ENSP00000347375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,066 - 179,907,856 (-)Ensembl
RefSeq Acc Id: ENST00000356834   ⟹   ENSP00000349291
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,066 - 179,907,859 (-)Ensembl
RefSeq Acc Id: ENST00000517782
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,888,103 - 179,894,458 (-)Ensembl
RefSeq Acc Id: ENST00000518085
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,066 - 179,867,028 (-)Ensembl
RefSeq Acc Id: ENST00000518115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,879,046 - 179,880,023 (-)Ensembl
RefSeq Acc Id: ENST00000518120
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,887,671 - 179,888,314 (-)Ensembl
RefSeq Acc Id: ENST00000518459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,874,927 - 179,879,406 (-)Ensembl
RefSeq Acc Id: ENST00000519746   ⟹   ENSP00000430293
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,066 - 179,871,805 (-)Ensembl
RefSeq Acc Id: ENST00000519757
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,867,304 - 179,871,816 (-)Ensembl
RefSeq Acc Id: ENST00000520794
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,743 - 179,867,302 (-)Ensembl
RefSeq Acc Id: ENST00000520912
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,868,058 - 179,870,408 (-)Ensembl
RefSeq Acc Id: ENST00000521469
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,738 - 179,872,274 (-)Ensembl
RefSeq Acc Id: ENST00000521669
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,872,416 - 179,873,135 (-)Ensembl
RefSeq Acc Id: ENST00000522029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,884,369 - 179,893,237 (-)Ensembl
RefSeq Acc Id: ENST00000522180
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,867,241 - 179,871,501 (-)Ensembl
RefSeq Acc Id: ENST00000522224   ⟹   ENSP00000429361
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,893,425 - 179,907,852 (-)Ensembl
RefSeq Acc Id: ENST00000522472   ⟹   ENSP00000428441
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,862,373 - 179,879,703 (-)Ensembl
RefSeq Acc Id: ENST00000522921
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,867,805 - 179,870,700 (-)Ensembl
RefSeq Acc Id: ENST00000524222   ⟹   ENSP00000428724
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,863,404 - 179,893,233 (-)Ensembl
RefSeq Acc Id: ENST00000630103   ⟹   ENSP00000486765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl5179,894,541 - 179,907,821 (-)Ensembl
RefSeq Acc Id: NM_015043   ⟹   NP_055858
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385179,862,071 - 179,907,897 (-)NCBI
GRCh375179,289,071 - 179,334,879 (-)NCBI
Build 365179,221,677 - 179,267,464 (-)NCBI Archive
Celera5174,914,219 - 174,960,020 (-)RGD
HuRef5174,013,821 - 174,059,392 (-)RGD
CHM1_15178,721,413 - 178,767,291 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198868   ⟹   NP_942568
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385179,862,071 - 179,907,897 (-)NCBI
GRCh375179,289,071 - 179,334,879 (-)NCBI
Build 365179,221,677 - 179,267,464 (-)NCBI Archive
Celera5174,914,219 - 174,960,020 (-)RGD
HuRef5174,013,821 - 174,059,392 (-)RGD
CHM1_15178,721,413 - 178,767,291 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_942568   ⟸   NM_198868
- Peptide Label: isoform a
- UniProtKB: Q66K14 (UniProtKB/Swiss-Prot),   B3KM54 (UniProtKB/TrEMBL),   Q9BW24 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_055858   ⟸   NM_015043
- Peptide Label: isoform b
- UniProtKB: Q66K14 (UniProtKB/Swiss-Prot),   B3KM54 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430293   ⟸   ENST00000519746
RefSeq Acc Id: ENSP00000429361   ⟸   ENST00000522224
RefSeq Acc Id: ENSP00000428441   ⟸   ENST00000522472
RefSeq Acc Id: ENSP00000428724   ⟸   ENST00000524222
RefSeq Acc Id: ENSP00000347375   ⟸   ENST00000355235
RefSeq Acc Id: ENSP00000486765   ⟸   ENST00000630103
RefSeq Acc Id: ENSP00000349291   ⟸   ENST00000356834
Protein Domains
EF-hand   GRAM   Rab-GAP TBC

Promoters
RGD ID:6803297
Promoter ID:HG_KWN:52006
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003MLF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,226,126 - 179,227,472 (-)MPROMDB
RGD ID:6803298
Promoter ID:HG_KWN:52007
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid
Transcripts:UC003MLK.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,229,621 - 179,230,442 (-)MPROMDB
RGD ID:6812866
Promoter ID:HG_ACW:66853
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3
Transcripts:TBC1D9B.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,232,721 - 179,233,612 (-)MPROMDB
RGD ID:6803609
Promoter ID:HG_KWN:52009
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000356834,   OTTHUMT00000253502,   UC003MLJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 365179,267,226 - 179,267,726 (-)MPROMDB
RGD ID:6871800
Promoter ID:EPDNEW_H9065
Type:initiation region
Name:TBC1D9B_1
Description:TBC1 domain family member 9B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385179,907,890 - 179,907,950EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5q35.3(chr5:178529878-181269805)x3 copy number gain See cases [RCV000051205] Chr5:178529878..181269805 [GRCh38]
Chr5:177956879..180696806 [GRCh37]
Chr5:177889485..180629412 [NCBI36]
Chr5:5q35.3
uncertain significance
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 copy number gain See cases [RCV000051863] Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3
pathogenic
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] Chr5:160029980..181269805 [GRCh38]
Chr5:159456987..180696806 [GRCh37]
Chr5:159389565..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 copy number gain See cases [RCV000051866] Chr5:168689326..181269946 [GRCh38]
Chr5:168116331..180696947 [GRCh37]
Chr5:168048909..180629553 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175889986-180793986)x3 copy number gain See cases [RCV000051868] Chr5:175889986..180793986 [GRCh38]
Chr5:175316989..180220986 [GRCh37]
Chr5:175249595..180153592 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:179680598-180161082)x3 copy number gain See cases [RCV000053317] Chr5:179680598..180161082 [GRCh38]
Chr5:179107599..179588082 [GRCh37]
Chr5:179040205..179520688 [NCBI36]
Chr5:5q35.3
uncertain significance
NM_015043.3(TBC1D9B):c.1725C>T (p.Ala575=) single nucleotide variant Malignant melanoma [RCV000061225] Chr5:179878366 [GRCh38]
Chr5:179305366 [GRCh37]
Chr5:179237972 [NCBI36]
Chr5:5q35.3
not provided
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 copy number gain See cases [RCV000133847] Chr5:156825512..181269805 [GRCh38]
Chr5:156252523..180696806 [GRCh37]
Chr5:156185101..180629412 [NCBI36]
Chr5:5q33.3-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:179669736-180897169)x1 copy number loss See cases [RCV000135285] Chr5:179669736..180897169 [GRCh38]
Chr5:179096737..180324169 [GRCh37]
Chr5:179029343..180256775 [NCBI36]
Chr5:5q35.3
likely pathogenic
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 copy number gain See cases [RCV000135546] Chr5:164386701..181269805 [GRCh38]
Chr5:163813707..180696806 [GRCh37]
Chr5:163746285..180629412 [NCBI36]
Chr5:5q34-35.3
pathogenic
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 copy number gain See cases [RCV000141249] Chr5:169334755..181285301 [GRCh38]
Chr5:168761759..180712302 [GRCh37]
Chr5:168694337..180644908 [NCBI36]
Chr5:5q35.1-35.3
pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:175536771-181292788)x1 copy number loss See cases [RCV000141987] Chr5:175536771..181292788 [GRCh38]
Chr5:174963774..180719789 [GRCh37]
Chr5:174896380..180652395 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh38/hg38 5q35.3(chr5:178235909-181292788)x3 copy number gain See cases [RCV000142298] Chr5:178235909..181292788 [GRCh38]
Chr5:177662910..180719789 [GRCh37]
Chr5:177595516..180652395 [NCBI36]
Chr5:5q35.3
likely pathogenic
GRCh38/hg38 5q35.2-35.3(chr5:176700128-181269805)x1 copy number loss See cases [RCV000142648] Chr5:176700128..181269805 [GRCh38]
Chr5:176127129..180696806 [GRCh37]
Chr5:176059735..180629412 [NCBI36]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174397487-180686444)x1 copy number loss See cases [RCV000167565] Chr5:174397487..180686444 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:177776148-180687012) copy number loss not provided [RCV000767663] Chr5:177776148..180687012 [GRCh37]
Chr5:5q35.3
likely pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) copy number gain not provided [RCV000767711] Chr5:174990352..180690937 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:179240402-179751111)x3 copy number gain See cases [RCV000446333] Chr5:179240402..179751111 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:179309535-180719789)x3 copy number gain See cases [RCV000447009] Chr5:179309535..180719789 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:176274007-180719789)x1 copy number loss See cases [RCV000447018] Chr5:176274007..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:179217944-179694141)x3 copy number gain See cases [RCV000447629] Chr5:179217944..179694141 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:178228725-180678091)x3 copy number gain See cases [RCV000448488] Chr5:178228725..180678091 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174427052-180719789)x1 copy number loss See cases [RCV000448611] Chr5:174427052..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175601473-180100378)x1 copy number loss See cases [RCV000448793] Chr5:175601473..180100378 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:178849756-180719789)x3 copy number gain See cases [RCV000448073] Chr5:178849756..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:179275350-179563401)x3 copy number gain See cases [RCV000448444] Chr5:179275350..179563401 [GRCh37]
Chr5:5q35.3
likely benign
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 copy number gain See cases [RCV000448458] Chr5:171396359..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 copy number gain See cases [RCV000512068] Chr5:172031248..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:175570677-180719789)x1 copy number loss See cases [RCV000510785] Chr5:175570677..180719789 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:177535168-180719789)x3 copy number gain See cases [RCV000512203] Chr5:177535168..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:179240909-180035580)x3 copy number gain not provided [RCV000682625] Chr5:179240909..180035580 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:179016558-179409873)x3 copy number gain not provided [RCV000682624] Chr5:179016558..179409873 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:178904345-179529124)x3 copy number gain not provided [RCV000682623] Chr5:178904345..179529124 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:177114088-180719789)x1 copy number loss not provided [RCV000682620] Chr5:177114088..180719789 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 copy number gain not provided [RCV000745284] Chr5:155344802..180693344 [GRCh37]
Chr5:5q33.2-35.3
pathogenic
GRCh37/hg19 5q35.2-35.3(chr5:174832617-180693344)x3 copy number gain not provided [RCV000745336] Chr5:174832617..180693344 [GRCh37]
Chr5:5q35.2-35.3
pathogenic
Single allele duplication not provided [RCV000768450] Chr5:175843728..180703728 [GRCh37]
Chr5:5q35.2-35.3
likely pathogenic
GRCh37/hg19 5q35.3(chr5:179085554-179524010)x3 copy number gain Sensorineural hearing loss [RCV000787295] Chr5:179085554..179524010 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.3(chr5:176848982-180719789)x3 copy number gain not provided [RCV000847220] Chr5:176848982..180719789 [GRCh37]
Chr5:5q35.3
pathogenic
GRCh37/hg19 5q35.3(chr5:178487249-180622216)x4 copy number gain not provided [RCV001005750] Chr5:178487249..180622216 [GRCh37]
Chr5:5q35.3
uncertain significance
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 copy number gain 5q35 microduplication syndrome [RCV001263227] Chr5:170805664..180719789 [GRCh37]
Chr5:5q35.1-35.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:29097 AgrOrtholog
COSMIC TBC1D9B COSMIC
Ensembl Genes ENSG00000197226 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000284400 UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000347375 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000349291 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000428441 UniProtKB/TrEMBL
  ENSP00000428724 UniProtKB/TrEMBL
  ENSP00000429361 UniProtKB/TrEMBL
  ENSP00000430293 UniProtKB/TrEMBL
  ENSP00000486765 UniProtKB/TrEMBL
  ENSP00000491373 UniProtKB/Swiss-Prot
  ENSP00000491970 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000355235 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000356834 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000519746 UniProtKB/TrEMBL
  ENST00000522224 UniProtKB/TrEMBL
  ENST00000522472 UniProtKB/TrEMBL
  ENST00000524222 UniProtKB/TrEMBL
  ENST00000630103 UniProtKB/TrEMBL
  ENST00000639361 UniProtKB/Swiss-Prot
  ENST00000639711 UniProtKB/Swiss-Prot
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197226 GTEx
  ENSG00000284400 GTEx
HGNC ID HGNC:29097 ENTREZGENE
Human Proteome Map TBC1D9B Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom 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
  TCB1D9/TCB1D9B_PH-GRAM1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TCB1D9/TCB1D9B_PH-GRAM2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23061 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23061 ENTREZGENE
OMIM 618039 OMIM
Pfam GRAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RabGAP-TBC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA145148062 PharmGKB
PROSITE EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  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.155829 ENTREZGENE
UniProt A1L3A9_HUMAN UniProtKB/TrEMBL
  B3KM54 ENTREZGENE, UniProtKB/TrEMBL
  B9A6K8_HUMAN UniProtKB/TrEMBL
  E5RIN2_HUMAN UniProtKB/TrEMBL
  G3V133_HUMAN UniProtKB/TrEMBL
  H0YB08_HUMAN UniProtKB/TrEMBL
  H0YB58_HUMAN UniProtKB/TrEMBL
  Q66K14 ENTREZGENE
  Q9BW24 ENTREZGENE, UniProtKB/TrEMBL
  TBC9B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary D3DWQ5 UniProtKB/Swiss-Prot
  D3DWQ6 UniProtKB/Swiss-Prot
  O75163 UniProtKB/Swiss-Prot
  Q53EY0 UniProtKB/Swiss-Prot
  Q6MZI2 UniProtKB/Swiss-Prot
  Q96H49 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 TBC1D9B  TBC1 domain family member 9B    TBC1 domain family, member 9B (with GRAM domain)  Symbol and/or name change 5135510 APPROVED