MIOS

protein-coding

meiosis regulator for oocyte development, the group of WD repeat domain containing|GATOR2 subcomplex

Gene summary

Predicted to enable zinc ion binding activity. Involved in cellular response to amino acid starvation; positive regulation of TORC1 signaling; and protein-containing complex localization. Located in cytosol; lysosomal membrane; and nucleoplasm. Part of GATOR2 complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_019005.4

Inheritance

—

ClinVar variants

U:114B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.49

Max pathogenic AF

—

Genomic locus

chr7:7,566,875-7,608,932

External References & Databases

Ensembl (ENSG00000164654)

Transcript & Mutation Effects

hg38 • Region Span ~42.1 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MIOS variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 104

not providedTotal: 5

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019005.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	4 clinvar	1 clinvar	7
missense			111 clinvar			111
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	114	4	1	119

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 96 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_019005.4	RefSeq	NP_061878.3	10	MANE Select
ENST00000340080.9	Ensembl	ENSP00000339881.4	10	MANE Select
NM_001370076.1	RefSeq	NP_001357005.1	10	Standard
NM_001370077.1	RefSeq	NP_001357006.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

mTOR signaling pathway - Homo sapiens (human)

Biological Process

positive regulation of TOR signaling
cellular response to amino acid starvation
cellular protein-containing complex localization

Molecular Function

protein binding

Cellular Component

nucleus
nucleoplasm
lysosomal membrane
cytosol
cell junction

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340080
Coding exons: 10
Length: 42058
Individuals with no LoFs: 124733
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 124794
p: 0.000244

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.37	386	469	0.823	0.0000240	5742
Missense (PolyPhen)		88	153.55	0.57311		1861
Synonymous	-1.73	192	164	1.17	0.00000864	1642
Loss of Function	3.16	22	44.9	0.490	0.00000275	515

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00013	0.00013	rare
Latino/Admixed American	0.00091	0.00090	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00014	0.00014	rare
South Asian	0.00020	0.00020	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: As a component of the GATOR subcomplex GATOR2, functions within the amino acid-sensing branch of the TORC1 signaling pathway. Indirectly activates mTORC1 and the TORC1 signaling pathway through the inhibition of the GATOR1 subcomplex (PubMed:23723238). It is negatively regulated by the upstream amino acid sensors SESN2 and CASTOR1 (PubMed:25457612, PubMed:27487210). {ECO:0000269|PubMed:23723238, ECO:0000269|PubMed:25457612, ECO:0000269|PubMed:27487210}.;

Intolerance Scores

LoFtool: 0.515
RVIS EVS: -0.95
RVIS percentile EVS: 9.21

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): K
Indispensability pred.: E
Indispensability score: 0.834

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium