Minar2 membrane integral NOTCH2 associated receptor 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Minar2provided by MGI
Official Full Name: membrane integral NOTCH2 associated receptor 2provided by MGI
Primary source: MGI:MGI:2442934
See related: Ensembl:ENSMUSG00000050875 AllianceGenome:MGI:2442934
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: A730017C20Rik
Summary: Predicted to enable cholesterol binding activity. Acts upstream of or within several processes, including exploration behavior; inner ear receptor cell differentiation; and sensory perception of sound. Located in lysosomal membrane. Is active in endoplasmic reticulum and stereocilium. Is expressed in several structures, including cochlea; cochlear ganglion; lung; spleen; and telencephalon. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness. Orthologous to human MINAR2 (membrane integral NOTCH2 associated receptor 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in CNS E18 (RPKM 36.1), whole brain E14.5 (RPKM 32.1) and 6 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 D3; 18 33.9 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (59195264..59210034)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (59062189..59076962)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data 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?

Inactivation of Minar2 in mice hyperactivates mTOR signaling and results in obesity.
Title: Inactivation of Minar2 in mice hyperactivates mTOR signaling and results in obesity.
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.
Title: Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2)

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cholesterol binding	ISO Inferred from Sequence Orthology more info
enables cholesterol binding	ISS Inferred from Sequence or Structural Similarity more info
enables molecular_function	ND No biological Data available more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in angiogenesis	ISO Inferred from Sequence Orthology more info
involved_in angiogenesis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in biological_process	ND No biological Data available more info
involved_in cholesterol homeostasis	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within exploration behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within homeostasis of number of cells within a tissue	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear auditory receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within inner ear receptor cell stereocilium organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within locomotory behavior	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within neuron apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within sensory perception of sound	ISS Inferred from Sequence or Structural Similarity more info	PubMed
acts_upstream_of_or_within walking behavior	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in cellular_component	ND No biological Data available more info
is_active_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	IEA Inferred from Electronic Annotation more info
located_in lysosomal membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in stereocilium	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: major intrinsically disordered NOTCH2-binding receptor 1-like homolog

Names: UPF0258 protein KIAA1024-like homolog; major intrinsically disordered NOTCH2-associated receptor 2; major intrinsically disordered Notch2-binding receptor 1-like homolog

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_001167925.2 → NP_001161397.2 major intrinsically disordered NOTCH2-binding receptor 1-like homolog isoform c

Status: VALIDATED

Description

Transcript Variant: This variant (2) encodes the longer isoform (c).

Source sequence(s)

AC132242, CO044279

Conserved Domains (1) summary

pfam06789
Location:101 → 208

UPF0258; uncharacterized protein family (UPF0258)
NM_173759.5 → NP_776120.3 major intrinsically disordered NOTCH2-binding receptor 1-like homolog isoform a

Status: VALIDATED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 2, resulting in an isoform (a) that is shorter than isoform c.

Source sequence(s)

AC132242, BY125990, CO044279

Consensus CDS

CCDS29267.2

UniProtKB/Swiss-Prot

A0A0R4J0Q0, E9Q5J6, Q6DI98, Q8C4X7

Related

ENSMUSP00000125952.3, ENSMUST00000165666.9

Conserved Domains (1) summary

pfam06789
Location:52 → 191

UPF0258; uncharacterized protein family (UPF0258)

RNA

NR_033764.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (5) includes an additional internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC132242, AK080452, CO044279
NR_033765.1 RNA Sequence

Status: VALIDATED

Description

Transcript Variant: This variant (4) includes an additional internal exon, compared to variant 2. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 2, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC132242, BC075669

Related

ENSMUST00000117064.8

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_000084.7 Reference GRCm39 C57BL/6J

Range

59195264..59210034

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036161119.1 → XP_036017012.1 major intrinsically disordered NOTCH2-binding receptor 1-like homolog isoform X1

Conserved Domains (1) summary

pfam06789
Location:25 → 177

UPF0258; Uncharacterized protein family (UPF0258)
XM_006525878.5 → XP_006525941.1 major intrinsically disordered NOTCH2-binding receptor 1-like homolog isoform X2

See identical proteins and their annotated locations for XP_006525941.1

UniProtKB/Swiss-Prot

Q8C4X7

UniProtKB/TrEMBL

A0A0R4J0Q0

Related

ENSMUSP00000113023.2, ENSMUST00000118510.8

Conserved Domains (1) summary

pfam06789
Location:42 → 149

UPF0258; Uncharacterized protein family (UPF0258)