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PRDM16
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs116170568 | |||
| rs55704954 | |||
| rs79971748 | |||
| rs113879347 | |||
| rs187400273 | |||
| rs561896892 | |||
| rs114204766 | |||
| rs138655327 | |||
| rs145632008 | |||
| rs149333409 | |||
| rs150022595 | |||
| rs150395260 | |||
| rs188908415 | |||
| rs199998420 | |||
| rs200109766 | |||
| rs200947814 | |||
| rs201517929 | |||
| rs201814961 | |||
| rs201904226 | |||
| rs2493292 |
Find on This Page
Summary
Protein names
Found in These Blog Articles
GHR Function
Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation.
More Information
PRDM16 encodes a protein that binds DNA and functions as a transcriptional regulator (R).
It is associated with higher risk for heart problems and leukemia (R).
From NCBI Gene: Left ventricular noncompaction 8From UniProt: Left ventricular non-compaction 8 (LVNC8): A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. [MIM:615373] Cardiomyopathy, dilated 1LL (CMD1LL): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. [MIM:615373] A chromosomal aberration involving PRDM16 is found in myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Reciprocal translocation t(1;3)(p36;q21). Isoform 4 is specifically expressed in adult T-cell leukemia.
From NCBI Gene: The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36,q21)-positive MDS/AML. The protein encoded by this gene is a zinc finger transcription factor and contains an N-terminal PR domain. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008] From UniProt: Binds DNA and functions as a transcriptional regulator. Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism. Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells. Functions also as a repressor of TGF-beta signaling. Isoform 4 may regulate granulocytes differentiation.
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