ZNF836

protein-coding

zinc finger protein 836, the group of Zinc fingers C2H2-type

Gene summary

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

MANE transcript

NM_001102657.3

Inheritance

—

ClinVar variants

U:124B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.88

Max pathogenic AF

—

Genomic locus

chr19:52,153,864-52,171,643

External References & Databases

Ensembl (ENSG00000196267)

Transcript & Mutation Effects

hg38 • Region Span ~17.8 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 ZNF836 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 123

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001102657.3. 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						0
missense			120 clinvar	4 clinvar		124
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	124	4	0	128

Loading ClinVar variants...

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_001102657.3	RefSeq	NP_001096127.1	3	MANE Select
ENST00000682614.1	Ensembl	ENSP00000507838.1	3	MANE Select
ENST00000596428.5	Ensembl	ENSP00000470043.1	3	Standard
ENST00000597065.1	Ensembl	ENSP00000472008.1	2	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
DNA binding
metal ion binding

Cellular Component

nucleus

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000322146
Coding exons: 3
Length: 17780
Individuals with no LoFs: 125604
Homozygous LoFs: 0
Heterozygous LoFs: 22
Defined: 125626
p: 0.0000876

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.364	467	490	0.954	0.0000255	6219
Missense (PolyPhen)		223	250.95	0.88861		3230
Synonymous	0.484	163	171	0.953	0.00000864	1684
Loss of Function	-1.46	6	3.18	1.88	1.36e-7	36

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00019	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00060	0.00060	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000045	0.000044	rare
South Asian	0.000067	0.000065	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

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

Intolerance Scores

LoFtool: 0.814
RVIS EVS: -0.35
RVIS percentile EVS: 29.43

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.153

Gene Damage Prediction

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