Human Gene FKBP6 (uc003twz.2)
  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 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:72,440,192-72,772,641)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCLynxMalacardsMGI
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): FKBP6
CDC HuGE Published Literature: FKBP6
Positive Disease Associations: azoospermia , Hemoglobin A, Glycosylated
Related Studies:
  1. 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.
  2. 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.

-  MalaCards Disease Associations
  MalaCards Gene Search: FKBP6
Diseases sorted by gene-association score: williams-beuren syndrome (16), azoospermia (14), chromosome 17q12 deletion syndrome (6), diabetes mellitus, transient neonatal, 1 (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 37.56 RPKM in Testis
Total median expression: 42.90 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -65.40153-0.427 Picture PostScript Text
3' UTR -154.70454-0.341 Picture PostScript Text

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.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023566 - PPIase_FKBP
IPR001179 - PPIase_FKBP_dom
IPR013026 - TPR-contain_dom
IPR011990 - TPR-like_helical

Pfam Domains:
PF00254 - FKBP-type peptidyl-prolyl cis-trans isomerase

SCOP Domains:
81901 - HCP-like
48439 - Protein prenylyltransferase
48452 - TPR-like
54534 - FKBP-like

ModBase Predicted Comparative 3D Structure on Q7Z4T4
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  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.
BC067783 - Homo sapiens FK506 binding protein 6, 36kDa pseudogene, mRNA (cDNA clone IMAGE:4824745).
BC022013 - Homo sapiens FK506 binding protein 6, 36kDa pseudogene, mRNA (cDNA clone IMAGE:4825932).
BC070189 - Homo sapiens FK506 binding protein 6, 36kDa pseudogene, mRNA (cDNA clone IMAGE:6620443).
AK310313 - Homo sapiens cDNA, FLJ17355.
KJ901002 - Synthetic construct Homo sapiens clone ccsbBroadEn_10396 LOC541473 gene, encodes complete protein.
KJ904314 - Synthetic construct Homo sapiens clone ccsbBroadEn_13708 LOC541473 gene, encodes complete protein.
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.

-  Other Names for This Gene
  Alternate Gene Symbols: AF447060, NM_001135211, NP_001128683, Q7Z4T4, Q7Z4T4_HUMAN
UCSC ID: uc003twz.2
RefSeq Accession: NM_001135211
Protein: Q7Z4T4

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AF447060.1
exon count: 8CDS single in 3' UTR: no RNA size: 1504
ORF size: 894CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1950.00frame shift in genome: no % Coverage: 99.34
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.