ZNF585B

protein-coding

zinc finger protein 585B, 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_152279.4

Inheritance

—

ClinVar variants

U:94B:11

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.53

Max pathogenic AF

—

Genomic locus

chr19:37,181,579-37,218,153

External References & Databases

Ensembl (ENSG00000245680)

Transcript & Mutation Effects

hg38 • Region Span ~36.6 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 ZNF585B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 101

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152279.4. 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				3 clinvar		3
missense			92 clinvar	8 clinvar		100
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	94	11	0	105

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 21 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152279.4	RefSeq	NP_689492.3	4	MANE Select
ENST00000532828.7	Ensembl	ENSP00000433773.1	4	MANE Select
ENST00000392156.7	Ensembl	ENSP00000432760.1	2	Standard
ENST00000526705.1	Ensembl	ENSP00000434541.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Gene expression (Transcription)
Generic Transcription Pathway
RNA Polymerase II Transcription

Biological Process

regulation of transcription, DNA-templated

Molecular Function

DNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000532828
Coding exons: 4
Length: 36575
Individuals with no LoFs: 125463
Homozygous LoFs: 0
Heterozygous LoFs: 284
Defined: 125747
p: 0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.503	380	409	0.930	0.0000204	5098
Missense (PolyPhen)		161	173.13	0.92992		2260
Synonymous	-1.08	161	145	1.11	0.00000745	1373
Loss of Function	2.29	15	28.1	0.533	0.00000144	398

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0011	0.0011	notable
Latino/Admixed American	0.0015	0.0015	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.00055	0.00055	rare
European (Non-Finnish)	0.0016	0.0016	notable
South Asian	0.00033	0.00033	rare
Other	0.00098	0.00098	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May be involved in transcriptional regulation.;

Recessive Scores

pRec: 0.0951

Intolerance Scores

LoFtool: 0.688
RVIS EVS: 0.09
RVIS percentile EVS: 60.68

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.704

Gene Damage Prediction

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