ZNF248: Zinc Finger Protein 248
A KRAB-Zinc Finger Protein with Potential Roles in Transcriptional Regulation and Disease
Gene Information Card
| Symbol | ZNF248 |
|---|---|
| Full Name | zinc finger protein 248 |
| Gene Type | protein-coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 57209 ncbi.nlm.nih.gov/gene/57209 |
| Ensembl ID | ENSG00000119912 |
| UniProt ID | Q8NDQ6 |
| OMIM ID | 618431 |
| HGNC ID | 13044 |
| Aliases | FLJ12529, ZNF248A, ZNF248B |
Description
ZNF248 encodes a zinc finger protein of the Krüppel-associated box (KRAB) subfamily. These proteins typically function as transcriptional repressors by recruiting chromatin-modifying complexes. ZNF248 is expressed in multiple tissues and may play roles in development and cellular differentiation. Limited functional studies exist, but its genomic location and domain architecture suggest involvement in gene regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Thyroid | 2.1 | Low |
| Brain (cerebellum) | 1.8 | Low |
| Lung | 1.5 | Low |
| Liver | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Embryonic kidney cell line |
| K562 | 1.9 | Leukemia cell line |
| HeLa | 1.7 | Cervical cancer cell line |
| HepG2 | 1.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional impact |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• No specific pathways curated in Reactome or KEGG for ZNF248.
Protein Summary
ZNF248 is a 548-amino acid protein containing a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs. The KRAB domain mediates interaction with KAP1/TRIM28, leading to transcriptional repression via histone modification. The zinc fingers are predicted to bind specific DNA sequences. Expression is low across tissues, with highest levels in testis. No disease-causing mutations have been validated, and its biological function remains largely uncharacterized.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF248 Knockout HEK293 Cell Line | EDJ-KQ7755 | Human | 57209 | Details Get a Quote |
| ZNF248 Knockout A-549 Cell Line | EDJ-KQ33200 | Human | 57209 | Details Get a Quote |
| ZNF248 Knockout HCT 116 Cell Line | EDJ-KQ33201 | Human | 57209 | Details Get a Quote |
| ZNF248 Knockout HeLa Cell Line | EDJ-KQ33202 | Human | 57209 | Details Get a Quote |
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