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 chr7:72,742,155-72,772,641 Size: 30,487 Total Exon Count: 9 Strand: + Coding Region Position: hg19 chr7:72,742,276-72,756,897 Size: 14,622 Coding Exon Count: 8
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 O75344-2
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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.
Mouse
Rat
Zebrafish
D. melanogaster
C. elegans
S. cerevisiae
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
No ortholog
Descriptions from all associated GenBank mRNAs
AF447060 - Homo sapiens FK506 binding protein 6 isoform mRNA, complete cds. AK302121 - Homo sapiens cDNA FLJ58641 complete cds, highly similar to FK506-binding protein 6 (EC 5.2.1.8). AK310255 - Homo sapiens cDNA, FLJ17297. BC036817 - Homo sapiens FK506 binding protein 6, 36kDa, mRNA (cDNA clone MGC:45980 IMAGE:5744865), complete cds. AF038847 - Homo sapiens 36 kDa FK506 binding protein (FKBP36) mRNA, complete cds. EU176233 - Synthetic construct Homo sapiens clone IMAGE:100006583; FLH263906.01X; RZPDo839B03246D FK506 binding protein 6, 36kDa (FKBP6) gene, encodes complete protein. EU176537 - Synthetic construct Homo sapiens clone IMAGE:100011644; FLH264004.01L; RZPDo839D10245D FK506 binding protein 6, 36kDa (FKBP6) gene, encodes complete protein. CU691432 - Synthetic construct Homo sapiens gateway clone IMAGE:100016708 5' read FKBP6 mRNA. GQ129339 - Synthetic construct Homo sapiens clone HAIB:100068682; DKFZo004D0836 FK506 binding protein 6, 36kDa protein (FKBP6) gene, partial cds. KJ892540 - Synthetic construct Homo sapiens clone ccsbBroadEn_01934 FKBP6 gene, encodes complete protein. KR710904 - Synthetic construct Homo sapiens clone CCSBHm_00018108 FKBP6 (FKBP6) mRNA, encodes complete protein. KR712250 - Synthetic construct Homo sapiens clone CCSBHm_00900211 FKBP6 (FKBP6) mRNA, encodes complete protein. GQ129340 - Synthetic construct Homo sapiens clone HAIB:100068585; DKFZo008D0835 FK506 binding protein 6, 36kDa protein (FKBP6) gene, complete cds. DQ594612 - Homo sapiens piRNA piR-60724, complete sequence. JD035096 - Sequence 16120 from Patent EP1572962. JD064208 - Sequence 45232 from Patent EP1572962. JD525249 - Sequence 506273 from Patent EP1572962. JD387691 - Sequence 368715 from Patent EP1572962. JD459316 - Sequence 440340 from Patent EP1572962. JD485131 - Sequence 466155 from Patent EP1572962. JD200499 - Sequence 181523 from Patent EP1572962. JD092568 - Sequence 73592 from Patent EP1572962.
Biochemical and Signaling Pathways
Reactome (by CSHL, EBI, and GO)
Protein O75344 (Reactome details) participates in the following event(s):