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TBC1D2 TBC1 domain family member 2 [ Homo sapiens (human) ]

Gene ID: 55357, updated on 7-Jun-2020

Summary

Official Symbol
TBC1D2provided by HGNC
Official Full Name
TBC1 domain family member 2provided by HGNC
Primary source
HGNC:HGNC:18026
See related
Ensembl:ENSG00000095383 MIM:609871
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
Also known as
PARIS1; PARIS-1; TBC1D2A
Expression
Broad expression in lung (RPKM 7.7), urinary bladder (RPKM 3.8) and 23 other tissues See more
Orthologs

Genomic context

See TBC1D2 in Genome Data Viewer
Location:
9q22.33
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (98198998..98255649, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (100961280..101018003, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 14 Neighboring gene N-acetylneuraminate synthase Neighboring gene coronin 2A Neighboring gene ADP ribosylation factor like GTPase 8B pseudogene Neighboring gene microRNA 6854 Neighboring gene GATA motif-containing MPRA enhancer 175 Neighboring gene gamma-aminobutyric acid type B receptor subunit 2 Neighboring gene septin 7 pseudogene 7

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

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10702, FLJ16244, FLJ42782, DKFZp761D1823

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
Rab GTPase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cadherin binding IPI
Inferred from Physical Interaction
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 
positive regulation of GTPase activity IDA
Inferred from Direct Assay
more info
PubMed 
NOT regulation of cilium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
TBC1 domain family member 2A
Names
TBC1 domain family, member 2A
armus
prostate antigen recognized and identified by SEREX 1

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_001267571.2NP_001254500.1  TBC1 domain family member 2A isoform 1

    See identical proteins and their annotated locations for NP_001254500.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AB449882, AY026527, BX091503, DB167423
    Consensus CDS
    CCDS75865.1
    UniProtKB/Swiss-Prot
    Q9BYX2
    Related
    ENSP00000481721.1, ENST00000465784.7
    Conserved Domains (3) summary
    smart00164
    Location:625837
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01265
    Location:47147
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:47139
    PH; PH domain
  2. NM_001267572.1NP_001254501.1  TBC1 domain family member 2A isoform 3

    See identical proteins and their annotated locations for NP_001254501.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and represents the use of an alternate promoter, compared to variant 1, which results in the use of an in-frame downstream start codon and a protein (isoform 3) with a shorter N-terminus, compared to isoform 1.
    Source sequence(s)
    AY026527, BC028918, BX091503
    Consensus CDS
    CCDS59137.1
    UniProtKB/Swiss-Prot
    Q9BYX2
    UniProtKB/TrEMBL
    A0A024R166
    Related
    ENSP00000364203.1, ENST00000375063.5
    Conserved Domains (1) summary
    smart00164
    Location:165377
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. NM_018421.4NP_060891.3  TBC1 domain family member 2A isoform 2

    See identical proteins and their annotated locations for NP_060891.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an in-frame segment in the 3' coding region, compared to variant 1, which results in a protein (isoform 2) with a shorter C-terminus, compared to isoform 1.
    Source sequence(s)
    AL137073, AL591502, AY026527, BX091503
    Consensus CDS
    CCDS35080.1
    UniProtKB/Swiss-Prot
    Q9BYX2
    Related
    ENSP00000364207.5, ENST00000375066.6
    Conserved Domains (3) summary
    smart00164
    Location:625817
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
    cd01265
    Location:47147
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:47139
    PH; PH domain

RNA

  1. NR_051978.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks an alternate exon in the 5' coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AB449882, AK124772, AY026527, BX091503
    Related
    ENST00000342112.9

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    98198998..98255649 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017014899.1XP_016870388.1  TBC1 domain family member 2A isoform X1

  2. XM_011518843.2XP_011517145.1  TBC1 domain family member 2A isoform X2

    See identical proteins and their annotated locations for XP_011517145.1

    UniProtKB/Swiss-Prot
    Q9BYX2
    UniProtKB/TrEMBL
    A0A024R166
    Conserved Domains (1) summary
    smart00164
    Location:165377
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  3. XM_024447606.1XP_024303374.1  TBC1 domain family member 2A isoform X2

    Conserved Domains (1) summary
    smart00164
    Location:165377
    TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
  4. XM_011518844.3XP_011517146.1  TBC1 domain family member 2A isoform X3

    Conserved Domains (2) summary
    cd01265
    Location:47147
    PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
    pfam00169
    Location:47139
    PH; PH domain

RNA

  1. XR_929823.2 RNA Sequence

  2. XR_929824.3 RNA Sequence

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