Human Gene TBC1D2B (ENST00000300584.8_9) from GENCODE V47lift37
  Description: TBC1 domain family member 2B, transcript variant 1 (from RefSeq NM_144572.2)
Gencode Transcript: ENST00000300584.8_9
Gencode Gene: ENSG00000167202.12_12
Transcript (Including UTRs)
   Position: hg19 chr15:78,287,327-78,370,053 Size: 82,727 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr15:78,290,502-78,369,994 Size: 79,493 Coding Exon Count: 13 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr15:78,287,327-78,370,053)mRNA (may differ from genome)Protein (963 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MGIPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TBD2B_HUMAN
DESCRIPTION: RecName: Full=TBC1 domain family member 2B;
FUNCTION: May act as a GTPase-activating protein (By similarity).
INTERACTION: O95166:GABARAP; NbExp=2; IntAct=EBI-2947180, EBI-712001; Q9H0R8:GABARAPL1; NbExp=5; IntAct=EBI-2947180, EBI-3464833; P60520:GABARAPL2; NbExp=2; IntAct=EBI-2947180, EBI-720116; Q9GZQ8:MAP1LC3B; NbExp=3; IntAct=EBI-2947180, EBI-373144; Q9BXW4:MAP1LC3C; NbExp=2; IntAct=EBI-2947180, EBI-2603996;
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 Rab-GAP TBC domain.
SEQUENCE CAUTION: Sequence=AAH33712.1; Type=Erroneous initiation; Sequence=AAI52466.1; Type=Erroneous initiation; Sequence=EAW99190.1; Type=Erroneous gene model prediction;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 36.06 RPKM in Ovary
Total median expression: 681.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -30.1059-0.510 Picture PostScript Text
3' UTR -1197.703175-0.377 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000195 - Rab-GTPase-TBC_dom

Pfam Domains:
PF00169 - PH domain
PF00566 - Rab-GTPase-TBC domain

SCOP Domains:
109640 - KRAB domain (Kruppel-associated box)
47923 - Ypt/Rab-GAP domain of gyp1p
50729 - PH domain-like

ModBase Predicted Comparative 3D Structure on Q9UPU7
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding

Biological Process:
GO:0006886 intracellular protein transport
GO:0031338 regulation of vesicle fusion
GO:0090630 activation of GTPase activity
GO:1902017 regulation of cilium assembly

Cellular Component:
GO:0005622 intracellular
GO:0005829 cytosol
GO:0012505 endomembrane system


-  Descriptions from all associated GenBank mRNAs
  AL109773 - Homo sapiens mRNA full length insert cDNA clone EUROIMAGE 162656.
BC033712 - Homo sapiens TBC1 domain family, member 2B, mRNA (cDNA clone IMAGE:4400762), complete cds.
BC152465 - Homo sapiens TBC1 domain family, member 2B, mRNA (cDNA clone MGC:176722 IMAGE:8862601), complete cds.
AK074871 - Homo sapiens cDNA FLJ90390 fis, clone NT2RP2005514.
AB028978 - Homo sapiens mRNA for KIAA1055 protein, partial cds.
AL137303 - Homo sapiens mRNA; cDNA DKFZp434O086 (from clone DKFZp434O086).
AL080229 - Homo sapiens mRNA; cDNA DKFZp434I148 (from clone DKFZp434I148).
BC015718 - Homo sapiens TBC1 domain family, member 2B, mRNA (cDNA clone IMAGE:3906592), with apparent retained intron.
JD299606 - Sequence 280630 from Patent EP1572962.
JD526067 - Sequence 507091 from Patent EP1572962.
JD233588 - Sequence 214612 from Patent EP1572962.
JD292328 - Sequence 273352 from Patent EP1572962.
JD491361 - Sequence 472385 from Patent EP1572962.
JD387123 - Sequence 368147 from Patent EP1572962.
JD297707 - Sequence 278731 from Patent EP1572962.
JD495607 - Sequence 476631 from Patent EP1572962.
JD245435 - Sequence 226459 from Patent EP1572962.
JD427939 - Sequence 408963 from Patent EP1572962.
JD322322 - Sequence 303346 from Patent EP1572962.
DQ591017 - Homo sapiens piRNA piR-58129, complete sequence.
JD134557 - Sequence 115581 from Patent EP1572962.
JD161286 - Sequence 142310 from Patent EP1572962.
JD538482 - Sequence 519506 from Patent EP1572962.
DQ570189 - Homo sapiens piRNA piR-30301, complete sequence.
JD489635 - Sequence 470659 from Patent EP1572962.
BC140766 - Homo sapiens TBC1 domain family, member 2B, mRNA (cDNA clone MGC:176443 IMAGE:9021634), complete cds.
BC144482 - Homo sapiens TBC1 domain family, member 2B, mRNA (cDNA clone MGC:178026 IMAGE:9053009), complete cds.
JD248338 - Sequence 229362 from Patent EP1572962.
JD331336 - Sequence 312360 from Patent EP1572962.
JD370617 - Sequence 351641 from Patent EP1572962.
JD142608 - Sequence 123632 from Patent EP1572962.
JD543700 - Sequence 524724 from Patent EP1572962.
JD251322 - Sequence 232346 from Patent EP1572962.
JD552162 - Sequence 533186 from Patent EP1572962.
JD400350 - Sequence 381374 from Patent EP1572962.
JD191662 - Sequence 172686 from Patent EP1572962.
JD276259 - Sequence 257283 from Patent EP1572962.
JD363410 - Sequence 344434 from Patent EP1572962.
JD256179 - Sequence 237203 from Patent EP1572962.
JD262883 - Sequence 243907 from Patent EP1572962.
JD113986 - Sequence 95010 from Patent EP1572962.
JD420818 - Sequence 401842 from Patent EP1572962.
JD316213 - Sequence 297237 from Patent EP1572962.
JD266339 - Sequence 247363 from Patent EP1572962.
LF378050 - JP 2014500723-A/185553: Polycomb-Associated Non-Coding RNAs.
DQ597471 - Homo sapiens piRNA piR-35537, complete sequence.
JD258647 - Sequence 239671 from Patent EP1572962.
JD060115 - Sequence 41139 from Patent EP1572962.
JD424697 - Sequence 405721 from Patent EP1572962.
DQ585071 - Homo sapiens piRNA piR-52183, complete sequence.
JD115506 - Sequence 96530 from Patent EP1572962.
JD333489 - Sequence 314513 from Patent EP1572962.
DQ575184 - Homo sapiens piRNA piR-43296, complete sequence.
JD338264 - Sequence 319288 from Patent EP1572962.
JD231107 - Sequence 212131 from Patent EP1572962.
JD455760 - Sequence 436784 from Patent EP1572962.
JD485841 - Sequence 466865 from Patent EP1572962.
LF378051 - JP 2014500723-A/185554: Polycomb-Associated Non-Coding RNAs.
JD295158 - Sequence 276182 from Patent EP1572962.
JD482359 - Sequence 463383 from Patent EP1572962.
JD381292 - Sequence 362316 from Patent EP1572962.
DQ594103 - Homo sapiens piRNA piR-60215, complete sequence.
JD118747 - Sequence 99771 from Patent EP1572962.
JD250092 - Sequence 231116 from Patent EP1572962.
JD251410 - Sequence 232434 from Patent EP1572962.
JD554323 - Sequence 535347 from Patent EP1572962.
JD402236 - Sequence 383260 from Patent EP1572962.
JD055964 - Sequence 36988 from Patent EP1572962.
JD056951 - Sequence 37975 from Patent EP1572962.
DQ584695 - Homo sapiens piRNA piR-51807, complete sequence.
JD404093 - Sequence 385117 from Patent EP1572962.
JD394349 - Sequence 375373 from Patent EP1572962.
JD230999 - Sequence 212023 from Patent EP1572962.
DQ587674 - Homo sapiens piRNA piR-54786, complete sequence.
JD110562 - Sequence 91586 from Patent EP1572962.
JD466406 - Sequence 447430 from Patent EP1572962.
JD417236 - Sequence 398260 from Patent EP1572962.
JD251912 - Sequence 232936 from Patent EP1572962.
JD541584 - Sequence 522608 from Patent EP1572962.
JD152454 - Sequence 133478 from Patent EP1572962.
JD278447 - Sequence 259471 from Patent EP1572962.
DQ579328 - Homo sapiens piRNA piR-47440, complete sequence.
JD381860 - Sequence 362884 from Patent EP1572962.
KJ902282 - Synthetic construct Homo sapiens clone ccsbBroadEn_11676 TBC1D2B gene, encodes complete protein.
AB463304 - Synthetic construct DNA, clone: pF1KB9777, Homo sapiens TBC1D2B gene for TBC1 domain family, member 2B, without stop codon, in Flexi system.
JD253666 - Sequence 234690 from Patent EP1572962.
LF208576 - JP 2014500723-A/16079: Polycomb-Associated Non-Coding RNAs.
AK000173 - Homo sapiens cDNA FLJ20166 fis, clone COL09511.
LF378054 - JP 2014500723-A/185557: Polycomb-Associated Non-Coding RNAs.
LF378056 - JP 2014500723-A/185559: Polycomb-Associated Non-Coding RNAs.
DQ574184 - Homo sapiens piRNA piR-42296, complete sequence.
JD206975 - Sequence 187999 from Patent EP1572962.
JD044368 - Sequence 25392 from Patent EP1572962.
JD185936 - Sequence 166960 from Patent EP1572962.
JD535012 - Sequence 516036 from Patent EP1572962.
JD042470 - Sequence 23494 from Patent EP1572962.
JD289454 - Sequence 270478 from Patent EP1572962.
JD342947 - Sequence 323971 from Patent EP1572962.
DQ574149 - Homo sapiens piRNA piR-42261, complete sequence.
JD329285 - Sequence 310309 from Patent EP1572962.
DQ589112 - Homo sapiens piRNA piR-56224, complete sequence.
LF378059 - JP 2014500723-A/185562: Polycomb-Associated Non-Coding RNAs.
LF378060 - JP 2014500723-A/185563: Polycomb-Associated Non-Coding RNAs.
LF378061 - JP 2014500723-A/185564: Polycomb-Associated Non-Coding RNAs.
DQ574784 - Homo sapiens piRNA piR-42896, complete sequence.
LF378062 - JP 2014500723-A/185565: Polycomb-Associated Non-Coding RNAs.
MA613627 - JP 2018138019-A/185553: Polycomb-Associated Non-Coding RNAs.
MA613628 - JP 2018138019-A/185554: Polycomb-Associated Non-Coding RNAs.
MA444153 - JP 2018138019-A/16079: Polycomb-Associated Non-Coding RNAs.
MA613631 - JP 2018138019-A/185557: Polycomb-Associated Non-Coding RNAs.
MA613633 - JP 2018138019-A/185559: Polycomb-Associated Non-Coding RNAs.
MA613636 - JP 2018138019-A/185562: Polycomb-Associated Non-Coding RNAs.
MA613637 - JP 2018138019-A/185563: Polycomb-Associated Non-Coding RNAs.
MA613638 - JP 2018138019-A/185564: Polycomb-Associated Non-Coding RNAs.
MA613639 - JP 2018138019-A/185565: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: A7MD42, ENST00000300584.1, ENST00000300584.2, ENST00000300584.3, ENST00000300584.4, ENST00000300584.5, ENST00000300584.6, ENST00000300584.7, KIAA1055, NM_144572, Q8N1F9, Q9NXM0, Q9UPU7, TBD2B_HUMAN, uc317mqd.1, uc317mqd.2
UCSC ID: ENST00000300584.8_9
RefSeq Accession: NM_144572.2
Protein: Q9UPU7 (aka TBD2B_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.