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MINAR2 membrane integral NOTCH2 associated receptor 2 [ Homo sapiens (human) ]

Gene ID: 100127206, updated on 8-Mar-2024

Summary

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Official Symbol
MINAR2provided by HGNC
Official Full Name
membrane integral NOTCH2 associated receptor 2provided by HGNC
Primary source
HGNC:HGNC:33914
See related
Ensembl:ENSG00000186367 MIM:620215; AllianceGenome:HGNC:33914
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
DFNB120; KIAA1024L
Summary
Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Low expression observed in reference dataset See more
Orthologs
mouse all
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Genomic context

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Location:
5q23.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129748094..129766732)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (130266871..130285510)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (129083787..129102425)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128733796-128734784 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:128746164-128746707 Neighboring gene NANOG hESC enhancer GRCh37_chr5:128784412-128784978 Neighboring gene microRNA 4460 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:128794950-128795912 Neighboring gene ADAMTS19 antisense RNA 1 Neighboring gene ADAM metallopeptidase with thrombospondin type 1 motif 19 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129004984-129005522 Neighboring gene NANOG hESC enhancer GRCh37_chr5:129103445-129103946 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr5:129107197-129107750 Neighboring gene uncharacterized LOC112267944 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16299 Neighboring gene chondroitin sulfate synthase 3 Neighboring gene RNA, U6atac small nuclear 10, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Inactivation of Minar2 in mice hyperactivates mTOR signaling and results in obesity. Lotfollahzadeh S, et al. Mol Metab, 2023 Jul. PMID 37245847, Free PMC Article
  2. Kiaa1024L/Minar2 is essential for hearing by regulating cholesterol distribution in hair bundles. Gao G, et al. Elife, 2022 Nov 1. PMID 36317962, Free PMC Article
  3. Loss of MINAR2 impairs motor function and causes Parkinson's disease-like symptoms in mice. Ho RX, et al. Brain Commun, 2020. PMID 32954300, Free PMC Article
  4. Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice. Bademci G, et al. Proc Natl Acad Sci U S A, 2022 Jun 28. PMID 35727972, Free PMC Article
  5. The DNA sequence and comparative analysis of human chromosome 5. Schmutz J, et al. Nature, 2004 Sep 16. PMID 15372022

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hearing loss, autosomal recessive 120
MedGen: C5774309 OMIM: 620238 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cholesterol binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in angiogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in cholesterol homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
  
located_in lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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

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)

  1. NM_001257308.2 → NP_001244237.1  major intrinsically disordered NOTCH2-binding receptor 1-like

    See identical proteins and their annotated locations for NP_001244237.1

    Status: VALIDATED

    Source sequence(s)
    AC008591
    Consensus CDS
    CCDS58966.1
    UniProtKB/Swiss-Prot
    H3BM78, P59773
    Related
    ENSP00000454268.1, ENST00000564719.2
    Conserved Domains (2) summary
    pfam06789
    Location:48 → 187
    UPF0258; uncharacterized protein family (UPF0258)
    pfam15783
    Location:14 → 79
    FSIP2; Fibrous sheath-interacting protein 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    129748094..129766732
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    130266871..130285510
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P59773.2 GenPept UniProtKB/Swiss-Prot:P59773

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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