BPTF Chromosome 17
Bromodomain PHD finger transcription factor
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What This Gene Does
This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PHD finger proteins|Bromodomain containing|NURF complex"
Locus Type
gene with protein product
Location
17q24.2
Ensembl
ENSG00000171634
Associated Conditions (13)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Inborn genetic diseases
BPTF-related disorder
Intellectual disability
Kaposi sarcoma
susceptibility to
Syndromic intellectual disability
Secondary microcephaly
Expressive language delay
Global developmental delay
Neurodevelopmental delay
Neurodevelopmental disorder
See cases
Key Variants
RS1057518354
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Health Risk
RS1292339242
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1293898535
Conflicting classifications of pathogenicity
Health Risk
RS140673996
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS140942173
Conflicting classifications of pathogenicity
BPTF-related disorder, Inborn genetic diseases, Intellectual disability
Health Risk
RS144807262
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Health Risk
RS145536461
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145870742
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146241932
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147034943
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1489258620
Conflicting classifications of pathogenicity
Health Risk
RS149704276
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2147954548 | Health Risk | Likely pathogenic | Neurodevelopmental delay, Neurodevelopmental delay |
| RS2148606524 | Health Risk | Likely pathogenic | — |
| RS2510610110 | Health Risk | Likely pathogenic | — |
| RS2511711803 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2512477210 | Health Risk | Likely pathogenic | — |
| RS2512645913 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS2513705006 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS753210939 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS1135401778 | Health Risk | Pathogenic | Intellectual disability, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly |
| RS1158151918 | Health Risk | Pathogenic | — |
| RS1259365489 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS1555639076 | Health Risk | Pathogenic | Inborn genetic diseases, Secondary microcephaly, Expressive language delay |
| RS1555639411 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly, Expressive language delay |
| RS1555649483 | Health Risk | Pathogenic | Secondary microcephaly, Expressive language delay, Global developmental delay |
| RS1555652383 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly, Expressive language delay |
| RS1555693714 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly, Expressive language delay |
| RS1568070621 | Health Risk | Pathogenic | — |
| RS1598050118 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Inborn genetic diseases, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS1598468564 | Health Risk | Pathogenic | — |
| RS1598599641 | Health Risk | Pathogenic | — |
| RS1598681680 | Health Risk | Pathogenic | — |
| RS2055932118 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2059397603 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2061265539 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2146269629 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2146936860 | Health Risk | Pathogenic | — |
| RS2146949591 | Health Risk | Pathogenic | — |
| RS2146966936 | Health Risk | Pathogenic | — |
| RS2146968484 | Health Risk | Pathogenic | — |
| RS2147247193 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2147907396 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2148293838 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2511450754 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2512536891 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2512543726 | Health Risk | Pathogenic | — |
| RS2512646880 | Health Risk | Pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
| RS2513703489 | Health Risk | Pathogenic | See cases, See cases |
| RS782736894 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Secondary microcephaly, Expressive language delay |