ZIM2: Zinc Finger Imprinted 2
A paternally expressed imprinted gene encoding a zinc finger protein involved in transcriptional regulation and genomic imprinting.
Gene Information Card
| Symbol | ZIM2 |
|---|---|
| Full Name | Zinc Finger Imprinted 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.43 |
| NCBI Gene ID | 23619 ncbi.nlm.nih.gov/gene/23619 |
| Ensembl ID | ENSG00000167601 |
| UniProt ID | Q9Y6M7 |
| OMIM ID | 601985 |
| HGNC ID | 13072 |
| Aliases | ZNF657, ZIM2_HUMAN |
Description
ZIM2 (Zinc Finger Imprinted 2) is a protein-coding gene located on chromosome 19q13.43. It encodes a zinc finger protein that functions as a transcriptional regulator. ZIM2 is subject to genomic imprinting, with expression primarily from the paternal allele. The gene is part of a cluster of imprinted genes on chromosome 19 and is involved in development and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Beckwith-Wiedemann syndrome | Imprinting defects in the 19q13.43 region may disrupt ZIM2 expression, contributing to overgrowth phenotypes. | PMID: 15637717 |
| Silver-Russell syndrome | Hypomethylation of the paternal allele may lead to reduced ZIM2 expression, associated with growth restriction. | PMID: 21882294 |
| Wilms tumor | Loss of imprinting (LOI) at the ZIM2 locus has been observed in Wilms tumor samples, suggesting a role in tumorigenesis. | PMID: 19763152 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 12.3 | Medium |
| Testis | 8.7 | Low |
| Brain | 5.2 | Low |
| Kidney | 4.1 | Low |
| Liver | 2.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | Embryonic kidney cells; moderate expression |
| HeLa | 4.2 | Cervical cancer cells; low expression |
| K562 | 3.1 | Leukemia cells; low expression |
| HepG2 | 2.0 | Hepatocellular carcinoma; not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | 0.01% | p.Arg412Cys; predicted damaging by SIFT |
| c.567delA | Frameshift | <0.01% | p.Lys189fs; loss of function |
| c.890G>A | Nonsense | <0.01% | p.Trp297*; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ZIM2 are predicted to cause loss of function, potentially disrupting transcriptional regulation.
Gain of Function (GOF)
No gain-of-function mutations have been reported for ZIM2.
Dominant Negative (DN)
No dominant-negative mutations have been described for ZIM2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Genomic imprinting (Reactome: R-HSA-5617472)
• Transcriptional regulation by zinc finger proteins (Reactome: R-HSA-212436)
Protein Summary
The ZIM2 protein is a zinc finger transcription factor containing multiple C2H2-type zinc finger domains. It localizes to the nucleus and binds DNA to regulate gene expression. As an imprinted gene, ZIM2 is expressed predominantly from the paternal allele, and its protein product is involved in developmental processes. Structural analysis reveals a conserved zinc finger array that mediates sequence-specific DNA binding.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZIM2 Knockout HEK293 Cell Line | EDJ-KQ8097 | Human | 23619 | Details Get a Quote |
| ZIM2 Knockout HeLa Cell Line | EDJ-KQ55783 | Human | 23619 | Details Get a Quote |
| ZIM2 Knockout A-549 Cell Line | EDJ-KQ64278 | Human | 23619 | Details Get a Quote |
| ZIM2 Knockout HCT 116 Cell Line | EDJ-KQ72724 | Human | 23619 | Details Get a Quote |
