ZNF385B

protein-coding

zinc finger protein 385B, the group of MicroRNA protein coding host genes

Gene summary

Enables p53 binding activity. Involved in intrinsic apoptotic signaling pathway by p53 class mediator. Located in fibrillar center. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

ZNF533

MANE transcript

NM_152520.6

Inheritance

—

ClinVar variants

U:71B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.43

Max pathogenic AF

—

Genomic locus

chr2:179,441,982-179,861,612

External References & Databases

Ensembl (ENSG00000144331)

Transcript & Mutation Effects

hg38 • Region Span ~419.6 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 ZNF385B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 68

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152520.6. 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			69 clinvar		1 clinvar	70
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	71	1	4	76

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 32 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152520.6	RefSeq	NP_689733.4	8	MANE Select
ENST00000410066.7	Ensembl	ENSP00000386845.2	8	MANE Select
NM_001113397.2	RefSeq	NP_001106868.1	8	Standard
NM_001113398.3	RefSeq	NP_001106869.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

intrinsic apoptotic signaling pathway by p53 class mediator

Molecular Function

p53 binding
nucleic acid binding
zinc ion binding

Cellular Component

fibrillar center
nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000410066
Coding exons: 8
Length: 419524
Individuals with no LoFs: 125735
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125748
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.721	229	262	0.875	0.0000138	3071
Missense (PolyPhen)		72	105.64	0.68157		1337
Synonymous	-0.320	105	101	1.04	0.00000554	952
Loss of Function	2.28	8	18.6	0.429	0.00000104	236

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000062	0.000062	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0.000048	0.000046	rare
European (Non-Finnish)	0.000062	0.000062	rare
South Asian	0.000098	0.000098	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in p53/TP53-mediated apoptosis. {ECO:0000269|PubMed:22945289}.;

Recessive Scores

pRec: 0.113

Intolerance Scores

LoFtool: 0.700
RVIS EVS: 0.11
RVIS percentile EVS: 61.73

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.408

Gene Damage Prediction

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