ATMIN: ATM Interactor, DNA Damage Response Regulator
A key regulator of ATM signaling and DNA damage response, implicated in immune function and cancer susceptibility.
Gene Information Card
| Symbol | ATMIN |
|---|---|
| Full Name | ATM interactor |
| Gene Type | Protein coding |
| Chromosomal Location | 16q23.2 |
| NCBI Gene ID | 23300 ncbi.nlm.nih.gov/gene/23300 |
| Ensembl ID | ENSG00000166734 |
| UniProt ID | O43313 |
| OMIM ID | 614585 |
| HGNC ID | 29110 |
| Aliases | ATM-interacting protein, ZNF822, MGC138290 |
Description
ATMIN (ATM interactor) encodes a zinc finger protein that interacts with ATM (ataxia telangiectasia mutated) kinase. It plays a critical role in the DNA damage response by regulating ATM signaling, particularly in response to oxidative stress and replication stress. ATMIN is also involved in immune cell development and has been implicated in various cancers and immunodeficiency disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency 88 (IMD88) | Loss-of-function mutations in ATMIN impair ATM signaling in lymphocytes, leading to defective DNA repair and immune dysfunction. | ClinVar, OMIM |
| Breast cancer | ATMIN overexpression or amplification may alter DNA damage response, contributing to tumorigenesis. | COSMIC, NCBI |
| Lung cancer | Somatic mutations and copy number alterations in ATMIN are observed, potentially affecting ATM pathway activity. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Medium |
| Spleen | 7.9 | Medium |
| Bone marrow | 6.1 | Low |
| Brain | 3.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 10.1 | High expression |
| HeLa (cervical) | 7.5 | Medium expression |
| A549 (lung) | 6.8 | Medium expression |
| MCF7 (breast) | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.112C>T (p.Arg38*) | Nonsense | <0.1% | Loss of function; associated with IMD88 |
| c.457G>A (p.Glu153Lys) | Missense | 0.2% | Unknown significance; reported in cancer |
| c.1021_1022insA | Frameshift | <0.1% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations that truncate the protein, impairing ATM interaction and DNA damage signaling.
Gain of Function (GOF)
Not well characterized; amplification events may lead to increased ATMIN expression in some cancers.
Dominant Negative (DN)
No dominant-negative mutations have been reported in ATMIN.
View complete mutation data：
Gene Ontology (GO)
| • DNA damage response | • ATM signaling pathway |
| • protein binding | • zinc ion binding |
| • nucleus |
Pathways
• ATM signaling in DNA damage response
• Cellular response to oxidative stress
Protein Summary
ATMIN is a 823-amino acid protein containing a zinc finger domain. It localizes to the nucleus and interacts directly with ATM kinase, modulating its activation in response to DNA damage. ATMIN is essential for proper immune cell development and genomic stability.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ATMIN Knockout HEK293 Cell Line | EDJ-KQ7948 | Human | 23300 | Details Get a Quote |
| ATMIN Knockout A-549 Cell Line | EDJ-KQ33614 | Human | 23300 | Details Get a Quote |
| ATMIN Knockout HCT 116 Cell Line | EDJ-KQ33615 | Human | 23300 | Details Get a Quote |
| ATMIN Knockout HeLa Cell Line | EDJ-KQ33616 | Human | 23300 | Details Get a Quote |
