DPF2 Chromosome 11
Double PHD fingers 2
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What This Gene Does
The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary tumors. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Zinc fingers C2H2-type|PHD finger proteins|BAF complex subunits"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000133884
Associated Conditions (3)
Coffin-Siris syndrome 7
Inborn genetic diseases
Coffin-Siris syndrome 1
Key Variants
RS1301059856
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
Health Risk
RS1854515495
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
Health Risk
RS1854701811
Conflicting classifications of pathogenicity
Health Risk
RS2495406063
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2495413658
Conflicting classifications of pathogenicity
Health Risk
RS2495413781
Conflicting classifications of pathogenicity
Health Risk
RS748650780
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS754720218
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS757826187
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS762767384
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS765632713
Conflicting classifications of pathogenicity
Coffin-Siris syndrome 7, Coffin-Siris syndrome 7
Health Risk
RS1354918928
Likely pathogenic
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1301059856 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1854515495 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1854701811 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2495406063 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2495413658 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2495413781 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS748650780 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS754720218 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS757826187 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762767384 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765632713 | Health Risk | Conflicting classifications of pathogenicity | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1354918928 | Health Risk | Likely pathogenic | — |
| RS1555032051 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 7, Inborn genetic diseases, Coffin-Siris syndrome 7 |
| RS1854614432 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2137710954 | Health Risk | Likely pathogenic | — |
| RS2137711145 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS2495407169 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS2495413705 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS35405661 | Health Risk | Likely pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1555031372 | Health Risk | Pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 1, Coffin-Siris syndrome 7 |
| RS1555031500 | Health Risk | Pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1555032044 | Health Risk | Pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1555032074 | Health Risk | Pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS1854517568 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2137711041 | Health Risk | Pathogenic | Coffin-Siris syndrome 7, Coffin-Siris syndrome 7 |
| RS373186765 | Health Risk | Pathogenic | — |