Tbc1d2 TBC1 domain family, member 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbc1d2provided by MGI
Official Full Name: TBC1 domain family, member 2provided by MGI
Primary source: MGI:MGI:2652885
See related: Ensembl:ENSMUSG00000039813 AllianceGenome:MGI:2652885
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Gm1037; PARIS1; PARIS-1; A630005A06Rik
Summary: Predicted to enable GTPase activator activity and cadherin binding activity. Predicted to be involved in positive regulation of GTPase activity. Predicted to be located in several cellular components, including cytoplasmic vesicle; cytosol; and nucleoplasm. Orthologous to human TBC1D2 (TBC1 domain family member 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in colon adult (RPKM 17.6), bladder adult (RPKM 7.1) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 4 B1; 4 25.04 cM

Exon count:: 16

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	4	NC_000070.7 (46604390..46650396, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	4	NC_000070.6 (46604390..46650340, complement)

Chromosome 4 - NC_000070.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Vps34 has a previously unknown role in regulating Rab7 activity and late endosomal trafficking.
Title: Vps34 regulates Rab7 and late endocytic trafficking through recruitment of the GTPase-activating protein Armus.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (2)
Targeted (1)

General gene information

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Markers

D4Mit53 (e-PCR), detects polymorphism
- UniSTS:130171

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables GTPase activator activity	IBA Inferred from Biological aspect of Ancestor more info
enables GTPase activator activity	ISO Inferred from Sequence Orthology more info
enables GTPase activator activity	ISS Inferred from Sequence or Structural Similarity more info
enables cadherin binding	IEA Inferred from Electronic Annotation more info
enables cadherin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISS Inferred from Sequence or Structural Similarity more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasmic vesicle	ISO Inferred from Sequence Orthology more info
located_in cytoplasmic vesicle	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TBC1 domain family member 2A

Names: likely ortholog of H. sapiens TBC1 domain family, member 2 (TBC1D2)

NCBI Reference Sequences (RefSeq)

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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)

NM_198664.3 → NP_941066.3 TBC1 domain family member 2A

See identical proteins and their annotated locations for NP_941066.3

Status: VALIDATED

Source sequence(s)

AL683884, BX571848, BX682536

Consensus CDS

CCDS18155.1

UniProtKB/Swiss-Prot

B1AVH7, Q3UFW9, Q8BYB1

Related

ENSMUSP00000081670.6, ENSMUST00000084621.12

Conserved Domains (3) summary

smart00164
Location:619 → 831

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

cd01265
Location:45 → 146

PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain

pfam00169
Location:45 → 138

PH; PH domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000070.7 Reference GRCm39 C57BL/6J

Range

46604390..46650396 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006538047.5 → XP_006538110.1 TBC1 domain family member 2A isoform X2

Conserved Domains (4) summary

smart00164
Location:620 → 832

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

COG4913
Location:300 → 565

COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]

PRK14951
Location:192 → 404

PRK14951; DNA polymerase III subunits gamma and tau; Provisional

cd01265
Location:45 → 146

PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
XM_006538046.5 → XP_006538109.1 TBC1 domain family member 2A isoform X1

Conserved Domains (4) summary

smart00164
Location:620 → 832

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

COG4913
Location:300 → 565

COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]

PRK14951
Location:192 → 404

PRK14951; DNA polymerase III subunits gamma and tau; Provisional

cd01265
Location:45 → 146

PH_TBC1D2A; TBC1 domain family member 2A pleckstrin homology (PH) domain
XM_036164218.1 → XP_036020111.1 TBC1 domain family member 2A isoform X3

Conserved Domains (2) summary

smart00164
Location:399 → 611

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

COG4913
Location:79 → 319

COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]
XM_030253640.1 → XP_030109500.1 TBC1 domain family member 2A isoform X4

Conserved Domains (1) summary

smart00164
Location:163 → 375

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs
XM_006538050.2 → XP_006538113.1 TBC1 domain family member 2A isoform X5

Conserved Domains (3) summary

smart00164
Location:475 → 687

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs

COG4913
Location:155 → 395

COG4913; Uncharacterized protein, contains a C-terminal ATPase domain [Function unknown]

pfam15730
Location:84 → 151

DUF4680; Domain of unknown function (DUF4680)
XM_006538049.1 → XP_006538112.1 TBC1 domain family member 2A isoform X4

Conserved Domains (1) summary

smart00164
Location:163 → 375

TBC; Domain in Tre-2, BUB2p, and Cdc16p. Probable Rab-GAPs