ZNF804A

Chr 2

zinc finger protein 804A

Also known as: C2orf10

NCBI Gene: 91752 ENSG00000170396 UniProt: Q7Z570 OMIM: 612282

The protein is a zinc finger DNA-binding protein that regulates gene expression. This gene is highly constrained against loss-of-function variants (pLI 0.006, LOEUF 0.48), and polymorphisms are associated with increased susceptibility to schizophrenia, bipolar disorder, and heroin addiction. The inheritance pattern for pathogenic variants in pediatric neurogenetic disorders has not been established.

OMIM ResearchSummary from RefSeq

The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]

OMIM ResearchGenerating clinical summary…

LOEUF 0.48

Clinical Summary— ZNF804A

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 159 VUS of 200 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.48LOEUF

pLI 0.006

Z-score 4.16

OE 0.30 (0.19–0.48)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

-0.45Z-score

OE missense 1.05 (0.98–1.12)

630 obs / 598.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.30 (0.19–0.48)

0≤0.351.4

Missense OE?1.05 (0.98–1.12)

0≤0.61.4

Synonymous OE?1.02

0≤1.21.6

LoF obs/exp: 12 / 40.6Missense obs/exp: 630 / 598.9Syn Z: -0.20

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS159

Likely Benign20

Benign15

Conflicting1

Likely Pathogenic

159

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	1	0	1
VUS	1	158	0	0	159
Likely Benign	0	17	0	3	20
Benign	0	9	0	6	15
Conflicting	—				1
Total	1	184	1	9	196

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

25 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap ZNF804A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →