ZMYM3
Zinc Finger MYM-Type Containing 3
Gene Information Card
| Symbol | ZMYM3 |
|---|---|
| Full Name | Zinc Finger MYM-Type Containing 3 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 9203 ncbi.nlm.nih.gov/gene/9203 |
| Ensembl ID | ENSG00000147130 |
| UniProt ID | Q14202 |
| OMIM ID | 300061 |
| HGNC ID | 13054 |
| Aliases | DXS6673E, ZNF198L2, MYM, XFIM |
Description
ZMYM3 encodes a zinc finger protein of the MYM (Myeloproliferative and Mental Retardation) type family. The protein contains multiple MYM-type zinc finger domains and is thought to function as a transcriptional regulator. It is involved in chromatin remodeling and may play a role in neurodevelopment and cancer. Mutations in ZMYM3 are associated with X-linked intellectual disability and have been identified in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| X-linked intellectual disability | Loss-of-function mutations in ZMYM3 disrupt transcriptional regulation and chromatin remodeling, impairing neuronal development. | OMIM #300061; PMID: 24614146 |
| Acute myeloid leukemia | ZMYM3 is recurrently mutated in AML; may act as a tumor suppressor via regulation of gene expression. | COSMIC; PMID: 23598408 |
| Breast cancer | Somatic mutations and copy number alterations in ZMYM3 observed; potential role in tumorigenesis. | COSMIC; PMID: 22955915 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | Embryonic kidney cells |
| K562 | 9.8 | Leukemia cell line |
| HeLa | 7.5 | Cervical cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | Rare | Loss of function; associated with intellectual disability |
| c.567_568insA (p.Glu190fs) | Frameshift | Rare | Loss of function; reported in AML |
| c.890A>G (p.Glu297Gly) | Missense | 0.01% (gnomAD) | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons or truncated protein, resulting in loss of transcriptional regulatory function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • DNA binding | • zinc ion binding |
| • chromatin binding | • transcription coregulator activity |
| • nucleus |
Pathways
• Chromatin remodeling
• Transcriptional regulation
Protein Summary
ZMYM3 is a 1370-amino acid protein containing multiple MYM-type zinc finger domains. It localizes to the nucleus and is involved in transcriptional regulation and chromatin remodeling. The protein interacts with histone deacetylases and other chromatin modifiers. Its expression is highest in brain and testis. Loss-of-function mutations are linked to X-linked intellectual disability and somatic mutations are found in several cancers, suggesting a tumor suppressor role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZMYM3 Knockout HEK293 Cell Line | EDJ-KQ5842 | Human | 9203 | Details Get a Quote |
| ZMYM3 Knockout A-549 Cell Line | EDJ-KQ30644 | Human | 9203 | Details Get a Quote |
| ZMYM3 Knockout HCT 116 Cell Line | EDJ-KQ30645 | Human | 9203 | Details Get a Quote |
| ZMYM3 Knockout HeLa Cell Line | EDJ-KQ30646 | Human | 9203 | Details Get a Quote |
| ZMYM3 Knockout HAP1 Cell Line | EDC07997 | Human | 9203 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
