Bloc1s2 biogenesis of lysosomal organelles complex-1, subunit 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Bloc1s2provided by MGI
Official Full Name: biogenesis of lysosomal organelles complex-1, subunit 2provided by MGI
Primary source: MGI:MGI:1920939
See related: Ensembl:ENSMUSG00000057506 AllianceGenome:MGI:1920939
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: BLOS2; Bloc1s2a; 2410089B13Rik
Summary: Predicted to enable gamma-tubulin binding activity and protein C-terminus binding activity. Involved in several processes, including animal organ development; anterograde synaptic vesicle transport; and lysosomal protein catabolic process. Located in cytosol and lysosome. Part of BLOC-1 complex. Is expressed in several structures, including brain; eye; genitourinary system; gut; and spinal cord. Orthologous to human BLOC1S2 (biogenesis of lysosomal organelles complex 1 subunit 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in CNS E18 (RPKM 23.1), CNS E14 (RPKM 20.9) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 C3; 19 36.72 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (44127685..44134909, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (44139246..44146470, complement)

Chromosome 19 - NC_000085.7 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?

BLOS2 physically interacted with Notch1 in endo-lysosomal trafficking of Notch1. The findings suggest that BLOS2 is a novel negative player in regulating Notch signaling through lysosomal trafficking to control multiple stem and progenitor cell homeostasis in vertebrates.
Title: BLOS2 negatively regulates Notch signaling during neural and hematopoietic stem and progenitor cell development.
These findings reveal that balanced control of Notch signaling by BLOS2 is required for HSC homeostasis during fetal liver hematopoiesis.
Title: BLOS2 maintains hematopoietic stem cells in the fetal liver via repressing Notch signaling.
SLX2 might get involved in chromosomes segregation during meiosis by interaction with BLOS2.
Title: SLX2 interacting with BLOS2 is differentially expressed during mouse oocyte meiotic maturation.
WASH is a bimodular protein and a component of the BLOC-1 complex in which the C terminus is involved in Arp2/3-mediated actin nucleation, whereas the N-terminal portion is required for its regulation and localization in the cells
Title: Functional characterization of Wiskott-Aldrich syndrome protein and scar homolog (WASH), a bi-modular nucleation-promoting factor able to interact with biogenesis of lysosome-related organelle subunit 2 (BLOS2) and gamma-tubulin.
Mutations in the human genes encoding Snapin and the BLOS proteins could underlie novel forms of Hermansky-Pudlak syndrome as seen in mouse models
Title: Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).

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Variation

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Alleles

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

Endonuclease-mediated (2)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pkd2l1 (e-PCR), detects polymorphism
- UniSTS:531224

NoName (e-PCR)
- UniSTS:234389

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gamma-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables gamma-tubulin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in anterograde synaptic vesicle transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in endosomal transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISO Inferred from Sequence Orthology more info
involved_in extrinsic apoptotic signaling pathway via death domain receptors	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in lysosome localization	IBA Inferred from Biological aspect of Ancestor more info
involved_in lysosome localization	ISO Inferred from Sequence Orthology more info
involved_in lysosome localization	NAS Non-traceable Author Statement more info	PubMed
involved_in melanosome organization	NAS Non-traceable Author Statement more info	PubMed
involved_in mitochondrial outer membrane permeabilization	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial outer membrane permeabilization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron projection development	NAS Non-traceable Author Statement more info	PubMed
involved_in organelle transport along microtubule	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of endosome size	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of lysosome size	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of BLOC-1 complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BLOC-1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of BLOC-1 complex	ISO Inferred from Sequence Orthology more info
part_of BORC complex	IBA Inferred from Biological aspect of Ancestor more info
part_of BORC complex	ISO Inferred from Sequence Orthology more info
located_in centrosome	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic side of lysosomal membrane	NAS Non-traceable Author Statement more info	PubMed
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
part_of gamma-tubulin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of gamma-tubulin complex	ISO Inferred from Sequence Orthology more info
located_in lysosome	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in mitochondrion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in recycling endosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: biogenesis of lysosome-related organelles complex 1 subunit 2

Names: BLOC-1 subunit 2; biogenesis of lysosome-related organelles complex-1, subunit 2A

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_028607.1 → NP_082883.1 biogenesis of lysosome-related organelles complex 1 subunit 2

See identical proteins and their annotated locations for NP_082883.1

Status: VALIDATED

Source sequence(s)

AC125101, AK010745, BX513460

Consensus CDS

CCDS50445.1

UniProtKB/Swiss-Prot

A2ATZ7, Q6P062, Q9CWG9

Related

ENSMUSP00000078042.5, ENSMUST00000079033.6

Conserved Domains (1) summary

pfam10046
Location:44 → 138

BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2

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_000085.7 Reference GRCm39 C57BL/6J

Range

44127685..44134909 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011247369.2 → XP_011245671.1 biogenesis of lysosome-related organelles complex 1 subunit 2 isoform X1

Conserved Domains (1) summary

pfam10046
Location:43 → 135

BLOC1_2; Biogenesis of lysosome-related organelles complex-1 subunit 2