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

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, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

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_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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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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	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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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

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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)

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