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

Gene ID: 23102, updated on 11-Sep-2019

Summary

Official Symbol
TBC1D2Bprovided by HGNC
Official Full Name
TBC1 domain family member 2Bprovided by HGNC
Primary source
HGNC:HGNC:29183
See related
Ensembl:ENSG00000167202
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
Expression
Ubiquitous expression in ovary (RPKM 23.9), gall bladder (RPKM 19.7) and 25 other tissues See more
Orthologs

Genomic context

See TBC1D2B in Genome Data Viewer
Location:
15q24.3-q25.1
Exon count:
16
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (77994985..78077711, 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 COMM domain containing 4 pseudogene 1 Neighboring gene ADAMTS7 pseudogene 3 Neighboring gene uncharacterized LOC91450 Neighboring gene SH2 domain containing 7 Neighboring gene calcium and integrin binding family member 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20166, KIAA1055

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
activation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
intracellular protein transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
TBC1 domain family member 2B

NCBI Reference Sequences (RefSeq)

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_015079.6NP_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
    ENSP00000387165.3, ENST00000409931.7
    Conserved Domains (5) summary
    cd01265
    Location:36144
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:38136
    PH; PH domain
    pfam00566
    Location:708876
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam16515
    Location:339376
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
    cl23720
    Location:343459
    RILP-like; Rab interacting lysosomal protein-like 1 and 2 (Rilpl1 and Rilpl2)
  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/Swiss-Prot
    Q9UPU7
    UniProtKB/TrEMBL
    B2RTQ2
    Related
    ENSP00000300584.3, ENST00000300584.7
    Conserved Domains (4) summary
    cd01265
    Location:36144
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:38136
    PH; PH domain
    pfam00566
    Location:708876
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam16515
    Location:339376
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    77994985..78077711 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011521387.2XP_011519689.1  TBC1 domain family member 2B isoform X1

    Conserved Domains (4) summary
    cd01265
    Location:36144
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:38136
    PH; PH domain
    pfam00566
    Location:671839
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam16515
    Location:339376
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1
  2. XM_017022022.1XP_016877511.1  TBC1 domain family member 2B isoform X2

    Conserved Domains (2) summary
    pfam00566
    Location:478646
    RabGAP-TBC; Rab-GTPase-TBC domain
    pfam16515
    Location:109146
    HIP1_clath_bdg; Clathrin-binding domain of Huntingtin-interacting protein 1

RNA

  1. XR_001751163.1 RNA Sequence

  2. XR_001751162.1 RNA Sequence

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