ATMIN

Chr 16

ATM interactor

Also known as: ASCIZ, ZNF822

NCBI Gene: 23300ENSG00000166454UniProt: O43313

Enables dynein complex binding activity. Involved in positive regulation of DNA-templated transcription. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

214
ClinVar variants
41
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— ATMIN
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 Pathogenic / Likely Pathogenic· 162 VUS of 214 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.77LOEUF
pLI 0.000
Z-score 2.40
OE 0.47 (0.29–0.77)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.73Z-score
OE missense 1.10 (1.02–1.19)
451 obs / 409.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.47 (0.29–0.77)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.10 (1.02–1.19)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.21
0≤1.21.6
LoF obs/exp: 11 / 23.6Missense obs/exp: 451 / 409.2Syn Z: -2.16

ClinVar Variant Classifications

214 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic5
VUS162
Likely Benign10
Benign1
36
Pathogenic
5
Likely Pathogenic
162
VUS
10
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
36
0
36
Likely Pathogenic
0
0
5
0
5
VUS
0
137
25
0
162
Likely Benign
0
8
1
1
10
Benign
0
0
1
0
1
Total0145681214

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

View in ClinVar →

Protein Context — Lollipop Plot

ATMIN · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
ATM INTERACTOR; ATMIN
MIM #614693 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Large-scale copy number alterations are enriched for synthetic viability in BRCA1/BRCA2 tumors.
Zhu Y et al.·Genome Med
2024
ATMIN is a transcriptional regulator of both lung morphogenesis and ciliogenesis.
Goggolidou P et al.·Development
2014
Ataxia-telangiectasia mutated interactor regulates head and neck cancer metastasis via KRas expression.
Li YJ et al.·Oral Oncol
2017
Atmin modulates Pkhd1 expression and may mediate Autosomal Recessive Polycystic Kidney Disease (ARPKD) through altered non-canonical Wnt/Planar Cell Polarity (PCP) signalling.
Richards T et al.·Biochim Biophys Acta Mol Basis Dis
2019
MicroRNA-361-5p slows down gliomas development through regulating UBR5 to elevate ATMIN protein expression.
Jia J et al.·Cell Death Dis
2021
ATMIN Suppresses Metastasis by Altering the WNT-Signaling Pathway via PARP1 in MSI-High Colorectal Cancer.
Li YJ et al.·Ann Surg Oncol
2021
Beyond environmental risk: Genetic insights into lung cancer susceptibility through whole exome analysis.
Lintas C et al.·Lung Cancer
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools