MINDY4

protein-coding

MINDY lysine 48 deubiquitinase 4, the group of MINDY deubiquitinases

Gene summary

Predicted to enable K48-linked deubiquitinase activity. Predicted to be involved in protein K48-linked deubiquitination and proteolysis. Located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C7orf67
FAM188B

MANE transcript

NM_032222.3

Inheritance

—

ClinVar variants

U:138B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.84

Max pathogenic AF

—

Genomic locus

chr7:30,771,417-30,892,387

External References & Databases

Ensembl (ENSG00000106125)

Transcript & Mutation Effects

hg38 • Region Span ~121.0 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 MINDY4 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 146

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032222.3. 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			1 clinvar	3 clinvar		4
missense			136 clinvar	9 clinvar		145
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	138	12	0	150

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 13 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032222.3	RefSeq	NP_115598.2	18	MANE Select
ENST00000265299.6	Ensembl	ENSP00000265299.6	18	MANE Select
ENST00000852494.1	Ensembl	ENSP00000522553.1	15	Standard
ENST00000852494.2	Ensembl	ENSP00000522553.1	15	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

proteolysis

Molecular Function

cysteine-type carboxypeptidase activity
thiol-dependent ubiquitinyl hydrolase activity
Lys48-specific deubiquitinase activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265299
Coding exons: 18
Length: 120970
Individuals with no LoFs: 124573
Homozygous LoFs: 0
Heterozygous LoFs: 237
Defined: 124810
p: 0.000950

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0173	424	425	0.998	0.0000232	4920
Missense (PolyPhen)		116	115.99	1.0001		1381
Synonymous	-0.372	178	172	1.04	0.00000982	1501
Loss of Function	0.902	32	38.0	0.842	0.00000185	452

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0026	0.0026	notable
Latino/Admixed American	0.0016	0.0015	notable
Ashkenazi Jewish	0.00070	0.00070	rare
East Asian	0.0016	0.0016	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00066	0.00064	rare
South Asian	0.00098	0.00095	rare
Other	0.00099	0.00099	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probable hydrolase that can remove 'Lys-48'-linked conjugated ubiquitin from proteins. {ECO:0000250|UniProtKB:Q8NBR6}.;

Intolerance Scores

RVIS EVS: 2.25
RVIS percentile EVS: 98.21

Essentials

Essential (gene trap): N