ANO7

Chr 2

anoctamin 7

Also known as: D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G

NCBI Gene: 50636ENSG00000146205UniProt: Q6IWH7

ANO7 encodes a calcium-dependent phospholipid scramblase that translocates phospholipids across cell membranes and may function in cell-cell interactions. This gene is not well-established as a cause of pediatric neurological disease, as it is primarily expressed in prostate tissue and associated with prostate cancer research. The gene shows no intolerance to loss-of-function variants (pLI near zero), suggesting it may not be essential for normal development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
3
Pubs (1 yr)
13
P/LP submissions
0%
P/LP missense
1.37
LOEUF
Multiple*
Mechanism· predicted
Clinical Summary— ANO7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 101 VUS of 200 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.37LOEUF
pLI 0.000
Z-score -0.72
OE 1.11 (0.90–1.37)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.17Z-score
OE missense 0.98 (0.91–1.05)
564 obs / 575.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.11 (0.90–1.37)
0≤0.351.4
Missense OE0.98 (0.91–1.05)
0≤0.61.4
Synonymous OE1.13
0≤1.21.6
LoF obs/exp: 60 / 54.3Missense obs/exp: 564 / 575.8Syn Z: -1.61
DN
0.6938th %ile
GOF
0.74top 25%
LOF
0.3065th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

200 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
VUS101
Likely Benign4
Benign42
11
Pathogenic
101
VUS
4
Likely Benign
42
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
0
0
0
VUS
0
61
40
0
101
Likely Benign
0
1
3
0
4
Benign
0
4
35
3
42
Total066893158

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

View in ClinVar →

Protein Context — Lollipop Plot

ANO7 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 3 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients