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    TBC1D2B TBC1 domain family, member 2B [ Homo sapiens (human) ]

    Gene ID: 23102, updated on 30-Jun-2015
    Official Symbol
    TBC1D2Bprovided by HGNC
    Official Full Name
    TBC1 domain family, member 2Bprovided by HGNC
    Primary source
    HGNC:HGNC:29183
    See related
    Ensembl:ENSG00000167202; HPRD:08310; Vega:OTTHUMG00000152885
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Orthologs
    See TBC1D2B in Epigenomics, MapViewer
    Location:
    15q24.3-q25.1
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (77994985..78077667, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78287327..78369994, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370908 Neighboring gene ADAMTS7 pseudogene 3 Neighboring gene uncharacterized LOC91450 Neighboring gene SH2 domain containing 7 Neighboring gene calcium and integrin binding family member 2 Neighboring gene probable lysosomal cobalamin transporter

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ20166, KIAA1055

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    NOT regulation of cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    TBC1 domain family member 2B

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015079.5NP_055894.6  TBC1 domain family member 2B isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region due to the use of an alternate splice site in the terminal exon, compared to variant 1. The resulting protein (isoform b) has a shorter and distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AB028978, AC090260, AC104758, AL109773
      Consensus CDS
      CCDS32301.2
      UniProtKB/Swiss-Prot
      Q9UPU7
      Related
      ENSP00000387165, OTTHUMP00000202618, ENST00000409931, OTTHUMT00000328367
      Conserved Domains (2) summary
      smart00164
      Location:659876
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01265
      Location:36144
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    2. NM_144572.1NP_653173.1  TBC1 domain family member 2B isoform a

      See identical proteins and their annotated locations for NP_653173.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB028978, AC090260, AC104758, AL109773, BC140766
      Consensus CDS
      CCDS45314.1
      UniProtKB/TrEMBL
      B2RTQ2
      UniProtKB/Swiss-Prot
      Q9UPU7
      Related
      ENSP00000300584, OTTHUMP00000202619, ENST00000300584, OTTHUMT00000328369
      Conserved Domains (2) summary
      smart00164
      Location:659876
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01265
      Location:36144
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      77994985..78077667
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011521387.1XP_011519689.1  

      Conserved Domains (2) summary
      smart00164
      Location:622839
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01265
      Location:36144
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    2. XM_005254242.3XP_005254299.1  

      Conserved Domains (1) summary
      smart00164
      Location:429646
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    3. XM_011521388.1XP_011519690.1  

      Conserved Domains (2) summary
      smart00164
      Location:659876
      TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
      cd01265
      Location:36144
      PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      78405273..78487934
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)