ZNF100: Zinc Finger Protein 100
A Krüppel-associated box (KRAB) domain-containing zinc finger transcription factor involved in transcriptional regulation and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | ZNF100 |
|---|---|
| Full Name | zinc finger protein 100 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 163227 ncbi.nlm.nih.gov/gene/163227 |
| Ensembl ID | ENSG00000197020 |
| UniProt ID | Q8IYB4 |
| OMIM ID | 618575 |
| HGNC ID | 13089 |
| Aliases | ZNF100, FLJ20489, MGC138290 |
Description
ZNF100 encodes a zinc finger protein of the Krüppel-associated box (KRAB) family. The protein contains a KRAB domain at the N-terminus and multiple C2H2-type zinc finger motifs, characteristic of transcriptional repressors. ZNF100 is involved in regulating gene expression through chromatin remodeling and is expressed in various tissues. It has been implicated in cancer progression and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression of ZNF100 may promote cell proliferation and migration; potential oncogenic role. | COSMIC; PMID: 31570869 |
| Colorectal cancer | ZNF100 upregulation associated with poor prognosis; may regulate Wnt/β-catenin signaling. | COSMIC; PMID: 32041677 |
| Developmental disorders | Rare variants in ZNF100 have been reported in patients with intellectual disability and congenital anomalies. | ClinVar; PMID: 28135719 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.4 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 15.3 | High expression |
| HCT116 (colorectal cancer) | 12.1 | Moderate expression |
| HEK293 (embryonic kidney) | 9.7 | Moderate expression |
| K562 (leukemia) | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Cys) | Missense | <0.01% | Alters KRAB domain; potential loss of repressor function |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Located in zinc finger region; unknown significance |
| c.1120_1121insA (p.Thr374Asnfs*5) | Frameshift | <0.01% | Truncation; likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in ZNF100 are predicted to cause loss of repressor activity, potentially leading to derepression of target genes.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported; overexpression in cancer may mimic gain-of-function.
Dominant Negative (DN)
Not established; missense mutations in the KRAB domain may interfere with protein-protein interactions.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transcriptional regulation by KRAB zinc finger proteins
• Chromatin remodeling
Protein Summary
ZNF100 is a 532-amino acid protein with a KRAB domain (residues 1-75) and 12 C2H2-type zinc finger motifs (residues 100-500). The KRAB domain mediates interaction with KAP1/TRIM28, recruiting chromatin-modifying complexes to repress transcription. ZNF100 localizes to the nucleus and binds specific DNA sequences to regulate target gene expression. Its expression is highest in testis and certain cancer cell lines.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZNF100 Knockout HEK293 Cell Line | EDJ-KQ6067 | Human | 163227 | Details Get a Quote |
| ZNF100 Knockout HCT 116 Cell Line | EDJ-KQ29758 | Human | 163227 | Details Get a Quote |
| ZNF100 Knockout HeLa Cell Line | EDJ-KQ29759 | Human | 163227 | Details Get a Quote |
| ZNF100 Knockout A-549 Cell Line | EDJ-KQ67346 | Human | 163227 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
