Description: Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA. RefSeq Summary (NM_022893): This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Transcript (Including UTRs) Position: hg19 chr2:60,678,302-60,780,633 Size: 102,332 Total Exon Count: 4 Strand: - Coding Region Position: hg19 chr2:60,679,700-60,780,405 Size: 100,706 Coding Exon Count: 4
ID:F5H2Y4_HUMAN DESCRIPTION: SubName: Full=B-cell lymphoma/leukemia 11A; CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.
Attention Deficit Disorder with Hyperactivity Anke Hinney et al. American journal of medical genetics. Part B, Neuropsychiatric genetics 2011, Genome-wide association study in German patients with attention deficit/hyperactivity disorder., American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetic.
[PubMed 22012869]
Beta thalassemia/hemoglobin E disease Nuinoon ,et al. 2009, A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E, Human genetics 2009 .
[PubMed 19924444]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on F5H2Y4
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.