MINAR2 (membrane integral NOTCH2 associated receptor 2)

Gene

• Entrez ID: 100127206
• Gene name: Membrane integral NOTCH2 associated receptor 2
• Gene symbol: MINAR2
• Synonyms (NCBI Gene): DFNB120, KIAA1024L
• Chromosome: 5
• Chromosome location: 5q23.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IMP	35727972
GO:0005515	Function	Protein binding	IPI	32954300
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	32954300
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0010467	Process	Gene expression	IEA
GO:0015485	Function	Cholesterol binding	IDA	36317962
GO:0016020	Component	Membrane	IEA
GO:0032420	Component	Stereocilium	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0042491	Process	Inner ear auditory receptor cell differentiation	IEA
GO:0042632	Process	Cholesterol homeostasis	ISS
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0060113	Process	Inner ear receptor cell differentiation	IEA
GO:0060122	Process	Inner ear receptor cell stereocilium organization	IEA
GO:0090659	Process	Walking behavior	IEA

Other IDs

• MIM: 620215
• HGNC: 33914
• e!Ensembl: ENSG00000186367

Protein

• UniProt ID: P59773
• Protein name: Major intrinsically disordered NOTCH2-binding receptor 1-like (Major intrinsically disordered NOTCH2-associated receptor 2) (Membrane integral NOTCH2-associated receptor 2)
• Protein function: Binds cholesterol and may regulate the distribution and homeostasis of cholesterol in hair cells (PubMed:36317962). May play a role in angiogenesis (PubMed:35727972).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06789	MINAR1_C	47 → 189	MINAR1 C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the auditory hair cells. {ECO:0000269|PubMed:36317962}.
• Sequence:

  MDLSVLPNNNHPDKFLQLDVKSLTRSSALLQASLVRFPGGNYPAAQHWQNLVYSQREKKN
  IAAQRIRGSSADSLVTADSPPPSMSSVMKNNPLYGDLSLEEAMEERKKNPSWTIEEYDKH
  SLHTNLSGHLKENPNDLRFWLGDMYTPGFDTLLKKEEKQEKHSKFCRMGLILLVVISILV
  TIVTIITFFT

• Sequence length: 190

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Hearing loss, autosomal recessive 120	Pathogenic	rs2479687611, rs2479708257, rs2149546596	RCV003152307 RCV003152308 RCV003152309	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE ISOLATED SENSORINEURAL DEAFNESS TYPE DFNB	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 120	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations