MEAK7

protein-coding

MTOR associated protein, eak-7 homolog, the group of TLDc domain containing

Gene summary

Involved in several processes, including TOR signaling; positive regulation of protein localization to lysosome; and response to insulin. Located in cytosol and lysosomal membrane. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

KIAA1609
TLDC1

MANE transcript

NM_020947.4

Inheritance

—

ClinVar variants

U:139B:22

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.29

Max pathogenic AF

—

Genomic locus

chr16:84,476,355-84,554,033

External References & Databases

Ensembl (ENSG00000140950)

Transcript & Mutation Effects

hg38 • Region Span ~77.7 kb

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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 MEAK7 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 144

not providedTotal: 14

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020947.4. 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	2 clinvar	3 clinvar	7
missense			133 clinvar	11 clinvar	5 clinvar	149
nonsense						0
start loss						0
frameshift				1 clinvar		1
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	139	14	8	161

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 39 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020947.4	RefSeq	NP_065998.3	7	MANE Select
ENST00000343629.11	Ensembl	ENSP00000343635.6	7	MANE Select
ENST00000562447.5	Ensembl	ENSP00000457115.1	2	Standard
ENST00000565079.5	Ensembl	ENSP00000457557.1	3	Standard

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000343629
Coding exons: 7
Length: 75959
Individuals with no LoFs: 125421
Homozygous LoFs: 0
Heterozygous LoFs: 326
Defined: 125747
p: 0.00130

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-3.83	445	269	1.66	0.0000157	2983
Missense (PolyPhen)		93	60.632	1.5338		711
Synonymous	-4.67	177	114	1.56	0.00000710	885
Loss of Function	-1.14	23	17.8	1.29	8.45e-7	198

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00049	0.00049	rare
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0023	0.0023	notable
Finnish	0.00032	0.00032	rare
European (Non-Finnish)	0.0015	0.0015	notable
South Asian	0.0012	0.0012	notable
Other	0.0013	0.0013	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0999

Intolerance Scores

RVIS EVS: 1.76
RVIS percentile EVS: 96.76

Essentials

Essential (gene trap): N