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

    Gene ID: 100127206, updated on 9-Dec-2024

    Summary

    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
    Enables cholesterol binding activity. Involved in angiogenesis. Located in endoplasmic reticulum. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MINAR2 in Genome Data Viewer
    Location:
    5q23.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (129748094..129766732)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (130266871..130285510)
    RS_2024_09 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

    Expression

    • 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

    General gene information

    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
     
    involved_in exploration behavior IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in homeostasis of number of cells within a tissue IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear auditory receptor cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inner ear receptor cell stereocilium organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neuron apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in walking behavior IEA
    Inferred from Electronic Annotation
    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
     
    located_in stereocilium IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001257308.2NP_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:48187
      UPF0258; uncharacterized protein family (UPF0258)
      pfam15783
      Location:1479
      FSIP2; Fibrous sheath-interacting protein 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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)