Description: Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 2, mRNA. RefSeq Summary (NM_001135211): The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]. Transcript (Including UTRs) Position: hg19 chr7:72,440,192-72,772,641 Size: 332,450 Total Exon Count: 8 Strand: + Coding Region Position: hg19 chr7:72,440,345-72,756,897 Size: 316,553 Coding Exon Count: 7
azoospermia Zhang, W. et al. 2005, [Possible association between 278C/A single nucleotide polymorphism of FKBP6 and idiopathic azoospermia], Zhonghua yi xue yi chuan xue za zhi. 2005 Feb;22(1):3-Oct.
[PubMed 15696470]
278A polymorphism of FKBP6 gene was associated with idiopathic azoospermia, while C/T, 370G/A, 430G/C, 467T/C, 468G/A polymorphisms might be very rare in Chinese population.
Hemoglobin A, Glycosylated Andrew D Paterson et al. Diabetes 2010, A genome-wide association study identifies a novel major locus for glycemic control in type 1 diabetes, as measured by both A1C and glucose., Diabetes.
[PubMed 19875614]
A major locus for A1C and glucose in individuals with diabetes is near SORCS1. This may influence the design and analysis of genetic studies attempting to identify risk factors for long-term diabetic complications.
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 Q7Z4T4
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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.