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

Gene ID: 100127206, updated on 18-Sep-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
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
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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 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)

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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_001257308.2NP_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)