ZFP62

protein-coding

ZFP62 zinc finger protein, the group of Zinc fingers C2H2-type

Gene summary

Predicted to enable transcription cis-regulatory region binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001172638.2

Inheritance

—

ClinVar variants

U:116B:8

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr5:180,847,611-180,861,285

External References & Databases

Ensembl (ENSG00000196670)

Transcript & Mutation Effects

hg38 • Region Span ~13.7 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 ZFP62 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 120

not providedTotal: 3

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001172638.2. 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	1 clinvar	1 clinvar	3
missense			115 clinvar	6 clinvar		121
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	116	7	1	124

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 26 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001172638.2	RefSeq	NP_001166109.1	2	MANE Select
ENST00000502412.2	Ensembl	ENSP00000423820.1	2	MANE Select
NM_001377939.1	RefSeq	NP_001364868.1	1	Standard
NM_001377940.1	RefSeq	NP_001364869.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of transcription by RNA polymerase II

Molecular Function

DNA-binding transcription factor activity, RNA polymerase II-specific
nucleic acid binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000502412
Coding exons: 2
Length: 13676
Individuals with no LoFs: 118870
Homozygous LoFs: 0
Heterozygous LoFs: 1
Defined: 118871
p: 0.00000421

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.15	337	468	0.720	0.0000226	6001
Missense (PolyPhen)		217	319.75	0.67866		4069
Synonymous	1.24	153	174	0.881	0.00000849	1574
Loss of Function	3.64	5	24.4	0.205	0.00000128	416

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000069	0.000069	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in differentiating skeletal muscle. {ECO:0000250}.;

Intolerance Scores

RVIS EVS: 0.46
RVIS percentile EVS: 78.46

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.291

Gene Damage Prediction

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