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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TBC1D22B Gene

protein-coding   GIFtS: 45
GCID: GC06P037225

TBC1 Domain Family, Member 22B

(Previous name: chromosome 6 open reading frame 197)
(Previous symbol: C6orf197)
  Search for TBC1D22B
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 22B1 2
C6orf1971 2 3
Chromosome 6 Open Reading Frame 1971
RP4-744I24.22
dJ744I24.22
TBC1 Domain Family Member 22B2

External Ids:    HGNC: 216021   Entrez Gene: 556332   Ensembl: ENSG000000654917   UniProtKB: Q9NU193   

Export aliases for TBC1D22B gene to outside databases

Previous GC identifers: GC06P037334 GC06P036944


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for TBC1D22B Gene: 
TBC1D22B (TBC1 domain family, member 22B) is a protein-coding gene. GO annotations related to this gene include Rab GTPase activator activity. An important paralog of this gene is TBC1D13.

UniProtKB/Swiss-Prot: TB22B_HUMAN, Q9NU19
Function: May act as a GTPase-activating protein for Rab family protein(s) (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NT_007592.15  NC_018917.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TBC1D22B
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTBC1D22B promoter sequence
   Search SABiosciences Chromatin IP Primers for TBC1D22B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBC1D22B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p21.2   Ensembl cytogenetic band:  6p21.2   HGNC cytogenetic band: 6p21.2

TBC1D22B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TBC1D22B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P037225:  view genomic region     (about GC identifiers)

Start:
37,225,548 bp from pter      End:
37,300,746 bp from pter
Size:
75,199 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TB22B_HUMAN, Q9NU19 (See protein sequence)
Recommended Name: TBC1 domain family member 22B  
Size: 505 amino acids; 59081 Da
Sequence caution: Sequence=BAA91099.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for TBC1D22B:
3DZX (3D)    
Secondary accessions: Q32MQ8 Q5VUK9 Q7Z6P7 Q9BPV6 Q9BUT5 Q9NXB6

Explore the universe of human proteins at neXtProt for TBC1D22B: NX_Q9NU19

Explore proteomics data for TBC1D22B at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NU19

  • TBC1D22B Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TBC1D22B Protein Expression
    REFSEQ proteins: NP_060242.2  
    ENSEMBL proteins: 
     ENSP00000362590  

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    Cloud-Clone Corp. Proteins for TBC1D22B 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----

    TBC1D22B for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q9NU19

    ProtoNet protein and cluster: Q9NU19

    1 Blocks protein domain: IPB000195 RabGAP/TBC domain

    UniProtKB/Swiss-Prot: TB22B_HUMAN, Q9NU19
    Similarity: Contains 1 Rab-GAP TBC domain


    TBC1D22B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TB22B_HUMAN, Q9NU19
    Function: May act as a GTPase-activating protein for Rab family protein(s) (By similarity)

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005097Rab GTPase activator activity IEA--
         
    TBC1D22B for ontologies           About GeneDecksing


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    SwitchGear 3'UTR luciferase reporter plasmidTBC1D22B 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TBC1D22B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/8 Interacting proteins for TBC1D22B (Q9NU193 ENSP000003625904) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DYMQ7RTS93, ENSP000002694454I2D: score=2 STRING: ENSP00000269445
    RER1ENSP000003020884STRING: ENSP00000302088
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    CYP51A1ENSP000000031004STRING: ENSP00000003100
    TRAPPC1ENSP000003027834STRING: ENSP00000302783
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0032313regulation of Rab GTPase activity ----

    TBC1D22B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TBC1D22B (TB22B)

    Search CenterWatch for drugs/clinical trials and news about TBC1D22B / TB22B

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TBC1D22B gene: 
    NM_017772.2  

    Unigene Cluster for TBC1D22B:

    TBC1 domain family, member 22B
    Hs.731702  [show with all ESTs]
    Unigene Representative Sequence: BC047658
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000373491(uc003onn.3 uc010jwt.3 uc003ono.1 uc003onp.3)

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    hsa-miR-140-5p hsa-miR-631 hsa-miR-218-1* hsa-miR-128 hsa-miR-149 hsa-miR-208b hsa-miR-383 hsa-miR-3909
    SwitchGear 3'UTR luciferase reporter plasmidTBC1D22B 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TBC1D22B
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    Additional mRNA sequence: 

    AB449909.1 AK000344.1 AK021840.1 AK096340.1 AK292893.1 AY313781.1 AY927466.1 AY927467.1 
    BC000291.2 BC000743.2 BC001927.1 BC002720.2 BC047658.1 BC063523.1 BC109026.1 BC109027.1 
    BX648317.1 CR749710.1 

    11 DOTS entries:

    DT.453005  DT.101982439  DT.121353515  DT.75144988  DT.427275  DT.100780068  DT.121353553  DT.422189 
    DT.91697826  DT.92064882  DT.95258077 

    24/133 AceView cDNA sequences (see all 133):

    CD674134 AL521025 BC002720 BQ438303 BQ707954 NM_017772 BM750148 BM725980 
    AA335499 AW629346 AY313781 AA948606 BI333073 BC063523 AA723807 AI279972 
    BQ637987 BM053100 AI278672 AI246672 CB159422 CK904001 AI366854 BC047658 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TBC1D22B (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b
    SP1:                    -                                         -                                                         
    SP2:                    -                                                                                                   
    SP3:                                                                                                                        
    SP4:                                                                                                                        
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for TBC1D22B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TBC1D22B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGATGTGTGA
    TBC1D22B Expression
    About this image


    See TBC1D22B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TBC1D22B

    SOURCE GeneReport for Unigene cluster: Hs.731702
        SABiosciences Custom PCR Arrays for TBC1D22B
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for TBC1D22B gene from 10/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tbc1d22b1 , 5 TBC1 domain family, member 22B1, 5 89.5(n)1
    98.81(a)1
      17 (15.43 cM)5
    3810851  NM_198647.11  NP_941049.11 
     295497885 
    chicken
    (Gallus gallus)
    Aves TBC1D22B1 TBC1 domain family, member 22B 81.65(n)
    93.27(a)
      421181  XM_003642711.1  XP_003642759.1 
    lizard
    (Anolis carolinensis)
    Reptilia TBC1D22B6
    Uncharacterized protein
    93(a)
    1 ↔ 1
    GL343382.1(268058-338850)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL865124.22   -- 79.13(n)    AL865124.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d22b6
    TBC1 domain family, member 22B
    61(a)
    1 ↔ 1
    8(10803415-10879501)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG57451 CG5745 54.22(n)
    50.21(a)
      42498  NM_142684.2  NP_650941.3 
    worm
    (Caenorhabditis elegans)
    Secernentea tbc-31 Protein TBC-3 57.06(n)
    54.77(a)
      177845  NM_001027994.1  NP_001023165.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GYP1(YOR070C)4 Cis-golgi GTPase-activating protein (GAP) for the Rab more   --   15(457820-455907) 854236  NP_014713.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G307101 RabGAP/TBC domain-containing protein 56.15(n)
    50.62(a)
      817622  NM_128624.1  NP_565706.1 
    rice
    (Oryza sativa)
    Liliopsida AK066076.12   -- 76.34(n)    AK066076.1 


    ENSEMBL Gene Tree for TBC1D22B (if available)
    TreeFam Gene Tree for TBC1D22B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TBC1D22B gene
    TBC1D132  TBC1D52  TBC1D22A2  
    2 SIMAP similar genes for TBC1D22B using alignment to 3 protein entries:     TB22B_HUMAN (see all proteins):
    DKFZp762J0110    TBC1D22A

    TBC1D22B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1538 SNPs in TBC1D22B are shown (see all 1538)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1141075331,2
    C,F--37227976(+) GAATAG/TAACTT 1 -- int11Minor allele frequency- T:0.09WA 118
    rs1852484591,2
    --37228000(+) CTTTCA/GGTCTT 1 -- int10--------
    rs1441194601,2
    --37228007(+) TCTTAA/GAGAAG 1 -- int10--------
    rs1897004361,2
    --37228156(+) CTGATC/TATGAT 1 -- int10--------
    rs771722311,2
    --37228186(+) CAAATA/CGAAAT 1 -- int10--------
    rs1408993071,2
    --37228215(+) TTGCAA/GATGAA 1 -- int10--------
    rs1500841491,2
    C--37228289(+) TCTTTA/TAAAGT 1 -- int10--------
    rs1812995011,2
    C--37228298(+) GTGTAC/TAATTC 1 -- int10--------
    rs1848803901,2
    --37228356(+) CATCAC/TCACTA 1 -- int10--------
    rs117571321,2
    C,F,H--37228381(+) TCATCA/GTCCTG 1 -- int19Minor allele frequency- G:0.03NS EA NA 908

    HapMap Linkage Disequilibrium report for TBC1D22B (37225548 - 37300746 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for TBC1D22B:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2731932CNV Deletion23290073
    esv2669404CNV Deletion23128226
    esv2068563CNV Deletion18987734
    nsv521807CNV Loss19592680
    esv987594CNV Gain20482838

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TBC1D22B for disorders           About MalaCards

    TBC1D22B for disorders           About GeneDecksing

    Genetic Association Database (GAD): TBC1D22B
    Human Genome Epidemiology (HuGE) Navigator: TBC1D22B (1 document)

    Export disorders for TBC1D22B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TBC1D22B gene, integrated from 9 sources (see all 13):
    (articles sorted by number of sources associating them with TBC1D22B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    5. ACBD3 interaction with TBC1 domain 22 protein is diffe rentially affected by enteroviral and kobuviral 3A protein binding. (PubMed id 23572552)1 Greninger A.L....DeRisi J.L. (2013)
    6. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)2 Mayya V.... Han D.K. (2009)
    7. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    8. Identification and characterization of a novel Tre-2/Bub2/Cdc16 (TBC) protein that possesses Rab3A-GAP activity. (PubMed id 19077034)1 Ishibashi K.... Fukuda M. (2009)
    9. Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness. (PubMed id 17903302)4 Levy D....Mitchell G.F. (2007)
    10. Examples of the complex architecture of the human transcriptome revealed by RACE and high-density tiling arrays. (PubMed id 15998911)1 Kapranov P....Gingeras T.R. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55633 HGNC: 21602 AceView: C6orf197 Ensembl:ENSG00000065491 euGenes: HUgn55633
    ECgene: TBC1D22B H-InvDB: TBC1D22B

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TBC1D22B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TBC1D22B gene:
    Search GeneIP for patents involving TBC1D22B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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