ZFPM2 Chromosome 8
Zinc finger protein, FOG family member 2
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What This Gene Does
The zinc finger protein encoded by this gene is a widely expressed member of the FOG family of transcription factors. The family members modulate the activity of GATA family proteins, which are important regulators of hematopoiesis and cardiogenesis in mammals. It has been demonstrated that the protein can both activate and down-regulate expression of GATA-target genes, suggesting different modulation in different promoter contexts. A related mRNA suggests an alternatively spliced product but this information is not yet fully supported by the sequence. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PR/SET domain family|Zinc fingers FOG C2HC-type|Putative lysine methyltransferases"
Locus Type
gene with protein product
Location
8q23
Ensembl
ENSG00000169946
Associated Conditions (8)
Diaphragmatic hernia 3
Double outlet right ventricle
46
XY sex reversal 9
XY sex reversal 3
ZFPM2-related disorder
Tetralogy of Fallot
Inborn genetic diseases
Key Variants
RS121908603
Conflicting classifications of pathogenicity
Diaphragmatic hernia 3, Double outlet right ventricle, 46
Health Risk
RS181007123
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
RS187043152
Conflicting classifications of pathogenicity
Tetralogy of Fallot, 46, XY sex reversal 9
Health Risk
RS199535268
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
RS200168135
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
RS201439692
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
RS201981625
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS202204708
Conflicting classifications of pathogenicity
46, XY sex reversal 9, ZFPM2-related disorder
Health Risk
RS34248551
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
RS370456245
Conflicting classifications of pathogenicity
46, XY sex reversal 9, 46
Health Risk
RS569356297
Conflicting classifications of pathogenicity
Diaphragmatic hernia 3, 46, XY sex reversal 9
Health Risk
RS775854541
Conflicting classifications of pathogenicity
46, XY sex reversal 9, Inborn genetic diseases
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121908603 | Health Risk | Conflicting classifications of pathogenicity | Diaphragmatic hernia 3, Double outlet right ventricle, 46 |
| RS181007123 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS187043152 | Health Risk | Conflicting classifications of pathogenicity | Tetralogy of Fallot, 46, XY sex reversal 9 |
| RS199535268 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS200168135 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS201439692 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS201981625 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS202204708 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, ZFPM2-related disorder |
| RS34248551 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS370456245 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, 46 |
| RS569356297 | Health Risk | Conflicting classifications of pathogenicity | Diaphragmatic hernia 3, 46, XY sex reversal 9 |
| RS775854541 | Health Risk | Conflicting classifications of pathogenicity | 46, XY sex reversal 9, Inborn genetic diseases |
| RS1404513559 | Health Risk | Likely pathogenic | 46, XY sex reversal 9, 46 |
| RS1554583015 | Health Risk | Likely pathogenic | — |
| RS1586283040 | Health Risk | Likely pathogenic | — |
| RS1586285505 | Health Risk | Likely pathogenic | — |
| RS1811964183 | Health Risk | Likely pathogenic | ZFPM2-related disorder, ZFPM2-related disorder |
| RS2488152784 | Health Risk | Likely pathogenic | — |
| RS2488153535 | Health Risk | Likely pathogenic | — |
| RS1195263093 | Health Risk | Pathogenic | 46, XY sex reversal 9, 46 |
| RS121908604 | Health Risk | Pathogenic | Diaphragmatic hernia 3, Diaphragmatic hernia 3 |
| RS1814012663 | Health Risk | Pathogenic | Diaphragmatic hernia 3, Diaphragmatic hernia 3 |
| RS2536827502 | Health Risk | Pathogenic | Diaphragmatic hernia 3, Diaphragmatic hernia 3 |
| RS397514520 | Health Risk | Pathogenic | Double outlet right ventricle, Double outlet right ventricle |
| RS397514521 | Health Risk | Pathogenic | Double outlet right ventricle, Double outlet right ventricle |
| RS606231252 | Health Risk | Pathogenic | 46, XY sex reversal 9, 46 |
| RS121908602 | Health Risk | Pathogenic/Likely pathogenic | Diaphragmatic hernia 3, Diaphragmatic hernia 3 |
| RS1813907455 | Health Risk | Pathogenic/Likely pathogenic | Diaphragmatic hernia 3, Diaphragmatic hernia 3 |