ZNF148 Chromosome 3
Zinc finger protein 148
Upload your DNA to see your personal genotypes for variants in ZNF148.
What This Gene Does
The protein encoded by this gene is a member of the Kruppel family of zinc finger DNA binding proteins. The encoded protein activates transcription of the T-cell receptor and intestinal alkaline phosphatase genes but represses transcription of the ornithine decarboxylase, vimentin, gastrin, stomelysin, and enolase genes. Increased expression of this gene results in decreased patient survival rates from colorectal cancer, while mutations in this gene have been associated with global developmental delay, hypoplastic corpus callosum, and dysmorphic facies. [provided by RefSeq, Feb 2017]
Gene Info
Gene Group
Zinc fingers C2H2-type
Locus Type
gene with protein product
Location
3q21.2
Ensembl
ENSG00000163848
Associated Conditions (6)
Global developmental delay
absent or hypoplastic corpus callosum
and dysmorphic facies
ZNF148-related disorder
Inborn genetic diseases
Intellectual disability
Key Variants
RS147223574
Conflicting classifications of pathogenicity
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1935959694
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1057519268
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1553802038
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1560102245
Likely pathogenic
Health Risk
RS1579576360
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1579578234
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1935950310
Likely pathogenic
Health Risk
RS2107830116
Likely pathogenic
Health Risk
RS2107831883
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS2107833567
Likely pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
RS1057519265
Pathogenic
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147223574 | Health Risk | Conflicting classifications of pathogenicity | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1935959694 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1057519268 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1553802038 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1560102245 | Health Risk | Likely pathogenic | — |
| RS1579576360 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1579578234 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1935950310 | Health Risk | Likely pathogenic | — |
| RS2107830116 | Health Risk | Likely pathogenic | — |
| RS2107831883 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS2107833567 | Health Risk | Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1057519265 | Health Risk | Pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1057519266 | Health Risk | Pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1057519267 | Health Risk | Pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS1579576029 | Health Risk | Pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS2107832092 | Health Risk | Pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |
| RS2472625516 | Health Risk | Pathogenic | — |
| RS2107831036 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies |