ZNF804A

Chr 2

zinc finger protein 804A

Also known as: C2orf10

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.

OMIMResearchSummary from RefSeq
LOEUF 0.48
Clinical SummaryZNF804A
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.30) despite low pLI — interpret in context.
📋
ClinVar Variants
26 unique Pathogenic / Likely Pathogenic· 163 VUS of 235 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.48LOEUF
pLI 0.006
Z-score 4.16
OE 0.30 (0.190.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
-0.45Z-score
OE missense 1.05 (0.981.12)
630 obs / 598.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.30 (0.190.48)
00.351.4
Missense OE1.05 (0.981.12)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 12 / 40.6Missense obs/exp: 630 / 598.9Syn Z: -0.20

ClinVar Variant Classifications

235 submitted variants in ClinVar

Classification Summary

Pathogenic25
Likely Pathogenic1
VUS163
Likely Benign24
Benign16
Conflicting1
25
Pathogenic
1
Likely Pathogenic
163
VUS
24
Likely Benign
16
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
25
0
25
Likely Pathogenic
0
0
1
0
1
VUS
1
158
4
0
163
Likely Benign
0
17
4
3
24
Benign
0
9
1
6
16
Conflicting
1
Total1184359230

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF804A · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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