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

TBC1D22B Gene

protein-coding   GIFtS: 47
GCID: GC06P037225

TBC1 domain family, member 22B

(Previous name: chromosome 6 open reading frame 197 )
(Previous symbol: C6orf197)
 Explore 1 disease affiliated with
TBC1D22B via our new
 Human Malady Compendium 
Biological research products
for TBC1D22B
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
TBC1 Domain Family, Member 22B1 2     Chromosome 6 Open Reading Frame 1971
C6orf1971 2 3     RP4-744I24.22
DJ744I24.21     TBC1 Domain Family Member 22B2
FLJ203371     

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

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000006.11  NC_018917.1  NT_007592.15  
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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9NU19

  • TBC1D22B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_060242.2  
    ENSEMBL proteins: 
     ENSP00000362590  

    Human Recombinant Protein Products: 
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    Uscn 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 IEA--


    TBC1D22B for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TBC1D22B for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR000195 Rab-GTPase-TBC_dom

    Graphical View of Domain Structure for InterPro Entry Q9NU19

    ProtoNet protein and cluster: Q9NU19

    1 Blocks protein family: IPB000195 RabGAP/TBC domain

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

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

    miRNA
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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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    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



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Search CenterWatch for drugs/clinical trials and news about TBC1D22B / TB22B 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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)


    miRNA
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    8/67 QIAGEN miScript miRNA Assays for microRNAs that regulate TBC1D22B (see all 67):
    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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBC1D22B (see all 7)
    OriGene shRNA RFP: TBC1D22B
    OriGene siRNA: TBC1D22B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TBC1D22B
    Clone
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    Additional cDNA 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):

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

    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
    CGAP TAG: AGATGTGTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene 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 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    93(a)
    1 ↔ 1
    GL343382.1(268516-338850)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia AL865124.22   -- 79.13(n)    AL865124.2 
    zebrafish
    (Danio rerio)
    Actinopterygii tbc1d22b6
    TBC1 domain family, member 22B
    62(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 
    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  TBC1D22A2  TBC1D52  
    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, UniProtKB, 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

    10/1375 NCBI SNPs in TBC1D22B are shown (see all 1375    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378624971,2
    --37223628(+) AATTTC/TCCTAT 3 -- us2k1 int10--------
    rs1490310051,2
    --37223631(+) TTCCCG/TATTTA 3 -- us2k1 int10--------
    rs69063881,2
    C,F,A,H,--37223750(+) TTAACT/AACACC 3 -- us2k1 int18Minor allele frequency- A:0.07NS EA NA WA 524
    rs1140452581,2
    --37223755(+) TACACC/TCCCTG 3 -- us2k1 int11Minor allele frequency- T:0.01WA 118
    rs69264021,2
    C,F,H,--37223787(+) TTCATA/GGAAGA 3 -- us2k1 int18Minor allele frequency- G:0.08NS EA NA WA 538
    rs1818838741,2
    --37224013(+) TCTGAA/GCTGCT 3 -- int1 us2k10--------
    rs2629201,2
    C,F,H,--37224231(+) AGGCAG/AGTAAA 3 -- us2k1 int1 tfbs328Minor allele frequency- A:0.05NA EA NS WA CSA 2656
    rs1864553961,2
    --37224265(+) TTTTTC/TCTCTG 3 -- int1 us2k10--------
    rs1897117981,2
    --37224507(+) GGTAGC/TTGTAA 3 -- int1 us2k10--------
    rs1807801341,2
    --37224709(+) CTCATC/TGTCTG 3 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for TBC1D22B (37225548 - 37300746 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for TBC1D22B
         1 Indel: 47115

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

    TBC1D22B for disorders           About GeneDecksing

    1 disease for TBC1D22B:    About MalaCards
    malaria

    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 11):
    (articles sorted by number of sources associating them with TBC1D22B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    5. 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)
    6. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)
    7. 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)
    8. 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)
    9. Transcriptional maps of 10 human chromosomes at 5-nucleotide resolution. (PubMed id 15790807)1 Cheng J....Gingeras T.R. (2005)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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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