Tbc1d20 TBC1 domain family, member 20 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Tbc1d20provided by MGI
Official Full Name: TBC1 domain family, member 20provided by MGI
Primary source: MGI:MGI:1914481
See related: Ensembl:ENSMUSG00000027465 AllianceGenome:MGI:1914481
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: bs; 1110028I04Rik; 2810442O16Rik
Summary: Predicted to enable GTPase activator activity and small GTPase binding activity. Acts upstream of or within several processes, including acrosome assembly; lens fiber cell morphogenesis; and seminiferous tubule development. Predicted to be located in endoplasmic reticulum and nuclear membrane. Predicted to be integral component of Golgi membrane. Predicted to be active in endoplasmic reticulum membrane. Used to study Warburg micro syndrome 4. Human ortholog(s) of this gene implicated in Warburg micro syndrome 4. Orthologous to human TBC1D20 (TBC1 domain family member 20). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in testis adult (RPKM 91.9), subcutaneous fat pad adult (RPKM 40.4) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 G3; 2 74.83 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (152135745..152155914)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (152293826..152313994)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

TBC1D20 Is Essential for Mouse Blood-Testis Barrier Integrity Through Maintaining the Epithelial Phenotype and Modulating the Maturation of Sertoli Cells.
Title: TBC1D20 Is Essential for Mouse Blood-Testis Barrier Integrity Through Maintaining the Epithelial Phenotype and Modulating the Maturation of Sertoli Cells.
It suggested that TBC1D20 deficiency triggers irreversible endoplasmic reticulum stress resulting in G1/S arrest and excessive apoptosis in TBC1D20-deficient Sertoli cells, and TBC1D20 deficiency in Sertoli cells may also contribute to the infertility phenotype in 'blind sterile' male mice.
Title: TBC1D20 deficiency induces Sertoli cell apoptosis by triggering irreversible endoplasmic reticulum stress in mice.
TBC1D20 has an essential role in the maturation of autophagosomes.
Title: TBC1D20 mediates autophagy as a key regulator of autophagosome maturation.
Disruption of Tbc1d20 in mice results in cataracts and aberrant acrosomal formation.
Title: Targeted disruption of Tbc1d20 with zinc-finger nucleases causes cataracts and testicular abnormalities in mice.
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Title: Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.

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Phenotypes

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Associated conditions

Description	Tests
blind-sterile GeneReviews: Not available

Variation

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Alleles

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

Spontaneous (1) 1 citation
Endonuclease-mediated (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

AU048389 (e-PCR)
- UniSTS:109583

AI414693 (e-PCR)
- UniSTS:159052

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 small GTPase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in COPII-coated vesicle cargo loading	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within Golgi organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in Golgi organization	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within acrosome assembly	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within camera-type eye development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in endoplasmic reticulum to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within lens development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lens fiber cell morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within lipid droplet organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within male gonad development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation by host of viral genome replication	ISO Inferred from Sequence Orthology more info
involved_in positive regulation by virus of viral protein levels in host cell	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of ER to Golgi vesicle-mediated transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of GTPase activity	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within seminiferous tubule development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within spermatogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in vesicle-mediated transport	IEA Inferred from Electronic Annotation more info
involved_in virion assembly	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in Golgi membrane	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
is_active_in endoplasmic reticulum membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in endoplasmic reticulum membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: TBC1 domain family member 20

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.