Human Gene TBC1D22A (ENST00000337137.9_5) from GENCODE V47lift37
  Description: TBC1 domain family member 22A, transcript variant 1 (from RefSeq NM_014346.5)
Gencode Transcript: ENST00000337137.9_5
Gencode Gene: ENSG00000054611.14_9
Transcript (Including UTRs)
   Position: hg19 chr22:47,158,547-47,571,336 Size: 412,790 Total Exon Count: 13 Strand: +
Coding Region
   Position: hg19 chr22:47,158,684-47,569,269 Size: 410,586 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 (chr22:47,158,547-47,571,336)mRNA (may differ from genome)Protein (517 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TB22A_HUMAN
DESCRIPTION: RecName: Full=TBC1 domain family member 22A;
FUNCTION: May act as a GTPase-activating protein for Rab family protein(s) (By similarity).
SUBUNIT: Homodimer.
SIMILARITY: Contains 1 Rab-GAP TBC domain.
SEQUENCE CAUTION: Sequence=CAB46628.1; Type=Erroneous initiation;

-  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

+  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: 15.97 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 317.92 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 -60.40137-0.441 Picture PostScript Text
3' UTR -869.102067-0.420 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
IPR000195 - Rab-GTPase-TBC_dom

Pfam Domains:
PF00566 - Rab-GTPase-TBC domain

SCOP Domains:
47923 - Ypt/Rab-GAP domain of gyp1p

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2QFZ - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q8WUA7
FrontTopSide
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 orthologNo orthologNo ortholog
Gene DetailsGene Details    
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 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005096 GTPase activator activity
GO:0005515 protein binding
GO:0017137 Rab GTPase binding
GO:0042803 protein homodimerization activity
GO:0071889 14-3-3 protein 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:0012505 endomembrane system


-  Descriptions from all associated GenBank mRNAs
  LF385067 - JP 2014500723-A/192570: Polycomb-Associated Non-Coding RNAs.
AK055591 - Homo sapiens cDNA FLJ31029 fis, clone HSYRA1000119, highly similar to TBC1 domain family member 22A.
AK301445 - Homo sapiens cDNA FLJ57214 complete cds, highly similar to TBC1 domain family member 22A.
BC029897 - Homo sapiens TBC1 domain family, member 22A, mRNA (cDNA clone MGC:35253 IMAGE:5173045), complete cds.
AK315779 - Homo sapiens cDNA, FLJ96895, highly similar to Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.
BC002743 - Homo sapiens TBC1 domain family, member 22A, mRNA (cDNA clone MGC:3547 IMAGE:3627634), complete cds.
BC020976 - Homo sapiens TBC1 domain family, member 22A, mRNA (cDNA clone MGC:9583 IMAGE:3884347), complete cds.
BC001292 - Homo sapiens TBC1 domain family, member 22A, mRNA (cDNA clone MGC:5258 IMAGE:3457393), complete cds.
AK308039 - Homo sapiens cDNA, FLJ97987.
CR456412 - Homo sapiens C22orf4 full length open reading frame (ORF) cDNA clone (cDNA clone C22ORF:pGEM.C22orf4).
CU013260 - Homo sapiens TBC1D22A, mRNA (cDNA clone IMAGE:100000038), complete cds, without stop codon, in Gateway system.
CU012972 - Homo sapiens TBC1D22A, mRNA (cDNA clone IMAGE:100000134), complete cds, with stop codon, in Gateway system.
AB587482 - Synthetic construct DNA, clone: pF1KB8643, Homo sapiens TBC1D22A gene for TBC1 domain family, member 22A, without stop codon, in Flexi system.
CU678158 - Synthetic construct Homo sapiens gateway clone IMAGE:100017271 5' read TBC1D22A mRNA.
KJ902371 - Synthetic construct Homo sapiens clone ccsbBroadEn_11765 TBC1D22A gene, encodes complete protein.
AB449908 - Homo sapiens TBC1D22A mRNA for TBC1 domain family, member 22A, complete cds.
AK125705 - Homo sapiens cDNA FLJ43717 fis, clone TESOP2005579.
AK127653 - Homo sapiens cDNA FLJ45751 fis, clone LYMPB2002344, highly similar to TBC1 domain family member 22A.
MA620644 - JP 2018138019-A/192570: Polycomb-Associated Non-Coding RNAs.
AL096779 - Novel human gene mapping to chomosome 22q13.3 similar to yeast ORF YOR070C, putative GTPase Activator (start missing).
AK000851 - Homo sapiens cDNA FLJ20844 fis, clone ADKA01904.
JD077272 - Sequence 58296 from Patent EP1572962.
JD408791 - Sequence 389815 from Patent EP1572962.
JD425695 - Sequence 406719 from Patent EP1572962.
JD195964 - Sequence 176988 from Patent EP1572962.
JD043042 - Sequence 24066 from Patent EP1572962.
JD219597 - Sequence 200621 from Patent EP1572962.
JD484434 - Sequence 465458 from Patent EP1572962.
JD565463 - Sequence 546487 from Patent EP1572962.
JD243667 - Sequence 224691 from Patent EP1572962.
BC022417 - Homo sapiens cDNA clone IMAGE:4243782, partial cds.
JD466005 - Sequence 447029 from Patent EP1572962.
JD560119 - Sequence 541143 from Patent EP1572962.
JD480777 - Sequence 461801 from Patent EP1572962.
JD521313 - Sequence 502337 from Patent EP1572962.
JD210734 - Sequence 191758 from Patent EP1572962.
JD518617 - Sequence 499641 from Patent EP1572962.
JD406346 - Sequence 387370 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0QYI2, B0QYI3, B9A6M3, C22orf4, ENST00000337137.1, ENST00000337137.2, ENST00000337137.3, ENST00000337137.4, ENST00000337137.5, ENST00000337137.6, ENST00000337137.7, ENST00000337137.8, NM_014346, Q5TE47, Q6ZUH2, Q8WUA7, Q92680, Q9BVD6, Q9UGG0, Q9UGT2, Q9UGU6, Q9UH25, Q9Y4W5, TB22A_HUMAN, uc317urw.1, uc317urw.2
UCSC ID: ENST00000337137.9_5
RefSeq Accession: NM_014346.5
Protein: Q8WUA7 (aka TB22A_HUMAN or CV04_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.