FKBP8 (FKBP prolyl isomerase 8) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: FKBP8 (FKBP prolyl isomerase 8) Homo sapiens
Analyze
Symbol: FKBP8
Name: FKBP prolyl isomerase 8
RGD ID: 1318578
HGNC Page HGNC:3724
Description: Enables several functions, including calmodulin binding activity; disordered domain specific binding activity; and identical protein binding activity. Involved in negative regulation of protein phosphorylation; protein localization to mitochondrion; and regulation of mitophagy. Acts upstream of or within protein folding. Located in cytosol; endoplasmic reticulum; and mitochondrion. Part of protein-containing complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 38 kDa FK506-binding protein; 38 kDa FKBP; FK506 binding protein 8; FK506 binding protein 8, 38kDa; FK506-binding protein 8; FK506-binding protein 8 (38kD); FKBP-38; FKBP-8; FKBP38; FKBPr38; hFKBP38; peptidyl-prolyl cis-trans isomerase FKBP8; PPIase FKBP8; rotamase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AC099336.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,531,763 - 18,543,573 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,531,751 - 18,544,077 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,642,573 - 18,654,383 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,503,568 - 18,515,383 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,503,567 - 18,515,383NCBI
Celera1918,544,773 - 18,556,588 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,205,047 - 18,217,230 (-)NCBIHuRef
CHM1_11918,643,053 - 18,654,863 (-)NCBICHM1_1
T2T-CHM13v2.01918,667,119 - 18,678,929 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7543869   PMID:8889548   PMID:10197430   PMID:11076863   PMID:11230166   PMID:12477932   PMID:12510191   PMID:12894220   PMID:15057824   PMID:15105374   PMID:15489334   PMID:15489336  
PMID:15592455   PMID:15733859   PMID:15757646   PMID:15905180   PMID:15990872   PMID:16169070   PMID:16176796   PMID:16341674   PMID:16381901   PMID:16604427   PMID:16844119   PMID:17024179  
PMID:17082457   PMID:17090549   PMID:17353276   PMID:17379601   PMID:17569659   PMID:17573772   PMID:17942410   PMID:17986458   PMID:17991864   PMID:18160438   PMID:18216108   PMID:18385096  
PMID:18459960   PMID:18658153   PMID:18676370   PMID:19147576   PMID:19222999   PMID:19546213   PMID:19615732   PMID:19946888   PMID:20029029   PMID:20048149   PMID:20139069   PMID:20140889  
PMID:20707607   PMID:20877624   PMID:21044950   PMID:21145461   PMID:21320469   PMID:21360678   PMID:21559462   PMID:21653829   PMID:21737445   PMID:21873635   PMID:21988832   PMID:22030396  
PMID:22474283   PMID:22523079   PMID:22645275   PMID:22810585   PMID:22810586   PMID:22939629   PMID:23413029   PMID:23464991   PMID:23602568   PMID:23798571   PMID:24145868   PMID:24169621  
PMID:24205284   PMID:24295050   PMID:24711448   PMID:24711643   PMID:25036637   PMID:25324306   PMID:26344197   PMID:26472760   PMID:26496610   PMID:26567527   PMID:26618866   PMID:26638075  
PMID:26972000   PMID:27342126   PMID:27499296   PMID:27580824   PMID:27770548   PMID:27880917   PMID:28169297   PMID:28278223   PMID:28298427   PMID:28381481   PMID:28514442   PMID:28534518  
PMID:29194576   PMID:29346117   PMID:29395067   PMID:29507755   PMID:29509190   PMID:29509794   PMID:29568061   PMID:29777862   PMID:29778605   PMID:29916806   PMID:30267576   PMID:30348988  
PMID:30487393   PMID:30619736   PMID:30833792   PMID:31006538   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31298480   PMID:31324722   PMID:31527615   PMID:31753913   PMID:31763849  
PMID:31871319   PMID:31908024   PMID:31950832   PMID:31980649   PMID:32060556   PMID:32296183   PMID:32707033   PMID:32788342   PMID:32807901   PMID:32877691   PMID:32969478   PMID:32994395  
PMID:33239621   PMID:33567341   PMID:33742100   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34226595   PMID:34432599   PMID:34597346   PMID:34709727   PMID:34882091  
PMID:35090967   PMID:35101451   PMID:35256949   PMID:35271311   PMID:35384245   PMID:35509820   PMID:35537812   PMID:35545034   PMID:35563538   PMID:35777956   PMID:35831314   PMID:35844135  
PMID:35906200   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36282215   PMID:36398662   PMID:36504053   PMID:36517590   PMID:36538041   PMID:36610398   PMID:36774506  
PMID:36949045   PMID:36966971   PMID:37536630   PMID:37774976   PMID:37827155   PMID:37931956   PMID:37947640   PMID:38113892   PMID:38218360  


Genomics

Comparative Map Data
FKBP8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381918,531,763 - 18,543,573 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1918,531,751 - 18,544,077 (-)EnsemblGRCh38hg38GRCh38
GRCh371918,642,573 - 18,654,383 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361918,503,568 - 18,515,383 (-)NCBINCBI36Build 36hg18NCBI36
Build 341918,503,567 - 18,515,383NCBI
Celera1918,544,773 - 18,556,588 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1918,205,047 - 18,217,230 (-)NCBIHuRef
CHM1_11918,643,053 - 18,654,863 (-)NCBICHM1_1
T2T-CHM13v2.01918,667,119 - 18,678,929 (-)NCBIT2T-CHM13v2.0
Fkbp8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39870,980,371 - 70,987,978 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl870,980,374 - 70,987,978 (+)EnsemblGRCm39 Ensembl
GRCm38870,527,721 - 70,535,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl870,527,724 - 70,535,328 (+)EnsemblGRCm38mm10GRCm38
MGSCv37873,051,642 - 73,059,227 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36873,458,516 - 73,464,312 (+)NCBIMGSCv36mm8
Celera873,084,164 - 73,091,753 (+)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map834.15NCBI
Fkbp8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81618,929,581 - 18,936,621 (-)NCBIGRCr8
mRatBN7.21618,895,608 - 18,902,648 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1618,893,576 - 18,902,612 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1618,937,354 - 18,944,324 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01620,070,071 - 20,077,034 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01618,990,316 - 18,997,286 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01620,645,956 - 20,652,890 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1620,645,957 - 20,652,889 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01620,501,665 - 20,508,369 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41619,401,883 - 19,407,192 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11619,401,881 - 19,408,527 (-)NCBI
Celera1619,087,049 - 19,094,012 (-)NCBICelera
Cytogenetic Map16p14NCBI
Fkbp8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555243,036,953 - 3,044,296 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555243,037,825 - 3,044,296 (+)NCBIChiLan1.0ChiLan1.0
FKBP8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22023,391,263 - 23,403,519 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11922,399,718 - 22,411,982 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01918,009,505 - 18,021,772 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11918,980,269 - 18,992,170 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1918,980,269 - 18,992,170 (-)Ensemblpanpan1.1panPan2
FKBP8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12044,494,856 - 44,504,084 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2044,489,219 - 44,598,497 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2044,409,560 - 44,418,774 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02044,981,067 - 44,990,281 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2044,980,688 - 44,990,281 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12044,218,433 - 44,227,646 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02044,628,579 - 44,637,790 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02044,904,032 - 44,913,247 (+)NCBIUU_Cfam_GSD_1.0
Fkbp8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118203,177,956 - 203,186,579 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365962,728,114 - 2,735,317 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365962,728,089 - 2,735,718 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKBP8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl259,253,342 - 59,267,165 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1259,256,546 - 59,267,171 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2259,035,636 - 59,046,247 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FKBP8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1617,007,764 - 17,018,409 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl617,007,390 - 17,017,714 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660742,321,762 - 2,332,880 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkbp8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046249081,713,590 - 1,720,709 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FKBP8
19 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3 copy number gain See cases [RCV000050635] Chr19:17176767..34924150 [GRCh38]
Chr19:17287576..35415054 [GRCh37]
Chr19:17148576..40106894 [NCBI36]
Chr19:19p13.11-q13.11		 pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11		 pathogenic
GRCh38/hg38 19p13.11(chr19:18424057-18685221)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053947]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053947]|See cases [RCV000053947] Chr19:18424057..18685221 [GRCh38]
Chr19:18534867..18796031 [GRCh37]
Chr19:18395867..18657031 [NCBI36]
Chr19:19p13.11		 pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31		 pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12		 pathogenic|likely pathogenic
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11		 pathogenic
GRCh37/hg19 19p13.11(chr19:18637610-18740208)x3 copy number gain not provided [RCV000752594] Chr19:18637610..18740208 [GRCh37]
Chr19:19p13.11		 benign
GRCh37/hg19 19p13.11(chr19:18136482-19087534)x3 copy number gain See cases [RCV000449006] Chr19:18136482..19087534 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43		 pathogenic
NM_012181.5(FKBP8):c.724G>A (p.Ala242Thr) single nucleotide variant Marfanoid habitus and intellectual disability [RCV000850453] Chr19:18538264 [GRCh38]
Chr19:18649074 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.1061A>G (p.His354Arg) single nucleotide variant not specified [RCV004305209] Chr19:18532758 [GRCh38]
Chr19:18643568 [GRCh37]
Chr19:19p13.11		 uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12		 pathogenic
NC_000019.9:g.(?_17927663)_(19312528_?)dup duplication Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 [RCV003116292] Chr19:17927663..19312528 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.332C>T (p.Pro111Leu) single nucleotide variant not specified [RCV004302559] Chr19:18539681 [GRCh38]
Chr19:18650491 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.493G>A (p.Val165Met) single nucleotide variant not specified [RCV004125297] Chr19:18539429 [GRCh38]
Chr19:18650239 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.115G>A (p.Glu39Lys) single nucleotide variant not specified [RCV004101754] Chr19:18541856 [GRCh38]
Chr19:18652666 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.236C>A (p.Ala79Asp) single nucleotide variant not specified [RCV004171244] Chr19:18541735 [GRCh38]
Chr19:18652545 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.1076G>A (p.Ser359Asn) single nucleotide variant not specified [RCV004102436] Chr19:18532743 [GRCh38]
Chr19:18643553 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.632A>C (p.Glu211Ala) single nucleotide variant not specified [RCV004164138] Chr19:18538356 [GRCh38]
Chr19:18649166 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.796G>A (p.Ala266Thr) single nucleotide variant not specified [RCV004167607] Chr19:18537750 [GRCh38]
Chr19:18648560 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.341C>T (p.Ser114Leu) single nucleotide variant not specified [RCV004077197] Chr19:18539672 [GRCh38]
Chr19:18650482 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.608C>T (p.Thr203Met) single nucleotide variant not specified [RCV004110531] Chr19:18538380 [GRCh38]
Chr19:18649190 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.224A>G (p.Glu75Gly) single nucleotide variant not specified [RCV004177383] Chr19:18541747 [GRCh38]
Chr19:18652557 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.347G>A (p.Arg116His) single nucleotide variant not specified [RCV004085059] Chr19:18539666 [GRCh38]
Chr19:18650476 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.508A>G (p.Met170Val) single nucleotide variant not specified [RCV004303249] Chr19:18539414 [GRCh38]
Chr19:18650224 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.406C>T (p.Arg136Trp) single nucleotide variant not specified [RCV004297495] Chr19:18539607 [GRCh38]
Chr19:18650417 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.320T>G (p.Leu107Arg) single nucleotide variant not specified [RCV004356202] Chr19:18539693 [GRCh38]
Chr19:18650503 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.201G>A (p.Glu67=) single nucleotide variant not provided [RCV003415152] Chr19:18541770 [GRCh38]
Chr19:18652580 [GRCh37]
Chr19:19p13.11		 likely benign
NM_012181.5(FKBP8):c.121G>A (p.Glu41Lys) single nucleotide variant not provided [RCV003415153]|not specified [RCV004364560] Chr19:18541850 [GRCh38]
Chr19:18652660 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.1192G>A (p.Val398Ile) single nucleotide variant not specified [RCV004386657] Chr19:18532219 [GRCh38]
Chr19:18643029 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.614T>C (p.Val205Ala) single nucleotide variant not specified [RCV004386659] Chr19:18538374 [GRCh38]
Chr19:18649184 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.760T>A (p.Ser254Thr) single nucleotide variant not specified [RCV004386660] Chr19:18538228 [GRCh38]
Chr19:18649038 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.1073G>A (p.Arg358Gln) single nucleotide variant not specified [RCV004386656] Chr19:18532746 [GRCh38]
Chr19:18643556 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.379C>G (p.Leu127Val) single nucleotide variant not specified [RCV004386658] Chr19:18539634 [GRCh38]
Chr19:18650444 [GRCh37]
Chr19:19p13.11		 uncertain significance
NM_012181.5(FKBP8):c.766G>A (p.Ala256Thr) single nucleotide variant not specified [RCV004386661] Chr19:18538222 [GRCh38]
Chr19:18649032 [GRCh37]
Chr19:19p13.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5881
Count of miRNA genes:940
Interacting mature miRNAs:1165
Transcripts:ENST00000222308, ENST00000453489, ENST00000544835, ENST00000594844, ENST00000596015, ENST00000596494, ENST00000596558, ENST00000597547, ENST00000597611, ENST00000597960, ENST00000599540, ENST00000601844, ENST00000606531, ENST00000608443, ENST00000609656, ENST00000610101
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
STS-L37033  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,642,755 - 18,642,991UniSTSGRCh37
Build 361918,503,755 - 18,503,991RGDNCBI36
Celera1918,544,960 - 18,545,196RGD
Cytogenetic Map19p12UniSTS
HuRef1918,205,234 - 18,205,470UniSTS
GeneMap99-GB4 RH Map19124.01UniSTS
NCBI RH Map19165.6UniSTS
D15S134E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,652,540 - 18,652,644UniSTSGRCh37
Build 361918,513,540 - 18,513,644RGDNCBI36
Celera1918,554,745 - 18,554,849RGD
Cytogenetic Map19p12UniSTS
HuRef1918,215,019 - 18,215,123UniSTS
FKBP8  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371918,648,430 - 18,649,071UniSTSGRCh37
Celera1918,550,635 - 18,551,276UniSTS
HuRef1918,210,909 - 18,211,550UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 655 1 655 1 2 23 1
Medium 2439 2336 1725 624 1292 465 4356 2197 3732 419 1437 1612 175 1 1204 2788 6 2
Low 4
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001308373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC005387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL042208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL555689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY225339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY278607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM719161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM790404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ953871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU752982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB471984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ372970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000222308   ⟹   ENSP00000222308
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,762 - 18,543,524 (-)Ensembl
RefSeq Acc Id: ENST00000544835   ⟹   ENSP00000441267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,752 - 18,543,573 (-)Ensembl
RefSeq Acc Id: ENST00000594844   ⟹   ENSP00000472087
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,539,419 - 18,543,245 (-)Ensembl
RefSeq Acc Id: ENST00000596015   ⟹   ENSP00000475588
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,532,105 - 18,538,371 (-)Ensembl
RefSeq Acc Id: ENST00000596494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,538,076 - 18,539,448 (-)Ensembl
RefSeq Acc Id: ENST00000596558   ⟹   ENSP00000472302
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,762 - 18,542,972 (-)Ensembl
RefSeq Acc Id: ENST00000597547   ⟹   ENSP00000472043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,539,432 - 18,543,483 (-)Ensembl
RefSeq Acc Id: ENST00000597611   ⟹   ENSP00000472643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,538,216 - 18,544,077 (-)Ensembl
RefSeq Acc Id: ENST00000597960   ⟹   ENSP00000471700
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,751 - 18,543,577 (-)Ensembl
RefSeq Acc Id: ENST00000599540   ⟹   ENSP00000472731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,538,376 - 18,542,498 (-)Ensembl
RefSeq Acc Id: ENST00000601844   ⟹   ENSP00000472921
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,814 - 18,543,577 (-)Ensembl
RefSeq Acc Id: ENST00000606531   ⟹   ENSP00000475895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,532,129 - 18,537,704 (-)Ensembl
RefSeq Acc Id: ENST00000608443   ⟹   ENSP00000476767
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,531,763 - 18,543,573 (-)Ensembl
RefSeq Acc Id: ENST00000609656   ⟹   ENSP00000477278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1918,541,902 - 18,544,058 (-)Ensembl
RefSeq Acc Id: NM_001308373   ⟹   NP_001295302
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,531,763 - 18,543,573 (-)NCBI
CHM1_11918,643,047 - 18,654,886 (-)NCBI
T2T-CHM13v2.01918,667,119 - 18,678,929 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012181   ⟹   NP_036313
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,531,763 - 18,543,573 (-)NCBI
GRCh371918,642,568 - 18,654,887 (-)NCBI
Build 361918,503,568 - 18,515,383 (-)NCBI Archive
HuRef1918,205,047 - 18,217,230 (-)ENTREZGENE
CHM1_11918,643,047 - 18,654,886 (-)NCBI
T2T-CHM13v2.01918,667,119 - 18,678,929 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_036313   ⟸   NM_012181
- Peptide Label: isoform 1
- UniProtKB: B7Z6M0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295302   ⟸   NM_001308373
- Peptide Label: isoform 2
- UniProtKB: Q7Z349 (UniProtKB/Swiss-Prot),   Q53GU3 (UniProtKB/Swiss-Prot),   C8C9T5 (UniProtKB/Swiss-Prot),   Q86YK6 (UniProtKB/Swiss-Prot),   Q14318 (UniProtKB/Swiss-Prot),   B7Z6M0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000472087   ⟸   ENST00000594844
RefSeq Acc Id: ENSP00000477278   ⟸   ENST00000609656
RefSeq Acc Id: ENSP00000472302   ⟸   ENST00000596558
RefSeq Acc Id: ENSP00000475588   ⟸   ENST00000596015
RefSeq Acc Id: ENSP00000472643   ⟸   ENST00000597611
RefSeq Acc Id: ENSP00000472043   ⟸   ENST00000597547
RefSeq Acc Id: ENSP00000471700   ⟸   ENST00000597960
RefSeq Acc Id: ENSP00000441267   ⟸   ENST00000544835
RefSeq Acc Id: ENSP00000472731   ⟸   ENST00000599540
RefSeq Acc Id: ENSP00000472921   ⟸   ENST00000601844
RefSeq Acc Id: ENSP00000222308   ⟸   ENST00000222308
RefSeq Acc Id: ENSP00000475895   ⟸   ENST00000606531
RefSeq Acc Id: ENSP00000476767   ⟸   ENST00000608443
Protein Domains
PPIase FKBP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14318-F1-model_v2 AlphaFold Q14318 1-412 view protein structure

Promoters
RGD ID:6811574
Promoter ID:HG_ACW:40514
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FKBP8.OAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,509,316 - 18,509,816 (-)MPROMDB
RGD ID:6795568
Promoter ID:HG_KWN:29310
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012181,   UC002NJK.1,   UC002NJL.1,   UC002NJM.1,   UC010EBR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361918,514,966 - 18,516,002 (-)MPROMDB
RGD ID:7239155
Promoter ID:EPDNEW_H25323
Type:initiation region
Name:FKBP8_1
Description:FK506 binding protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25324  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,543,573 - 18,543,633EPDNEW
RGD ID:7239157
Promoter ID:EPDNEW_H25324
Type:initiation region
Name:FKBP8_2
Description:FK506 binding protein 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25323  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381918,544,030 - 18,544,090EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3724 AgrOrtholog
COSMIC FKBP8 COSMIC
Ensembl Genes ENSG00000105701 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222308 ENTREZGENE
  ENST00000222308.8 UniProtKB/Swiss-Prot
  ENST00000544835.7 UniProtKB/TrEMBL
  ENST00000594844.5 UniProtKB/TrEMBL
  ENST00000596015.1 UniProtKB/TrEMBL
  ENST00000596558.6 UniProtKB/Swiss-Prot
  ENST00000597547.1 UniProtKB/TrEMBL
  ENST00000597611.7 UniProtKB/TrEMBL
  ENST00000597960.7 UniProtKB/Swiss-Prot
  ENST00000599540.6 UniProtKB/TrEMBL
  ENST00000601844.5 UniProtKB/TrEMBL
  ENST00000606531.2 UniProtKB/TrEMBL
  ENST00000608443 ENTREZGENE
  ENST00000608443.6 UniProtKB/Swiss-Prot
  ENST00000609656.1 UniProtKB/TrEMBL
Gene3D-CATH 1.25.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000105701 GTEx
HGNC ID HGNC:3724 ENTREZGENE
Human Proteome Map FKBP8 Human Proteome Map
InterPro PPIase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_FKBP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR-like_helical_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
  TPR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23770 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23770 ENTREZGENE
OMIM 604840 OMIM
PANTHER PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDYLPROLYL ISOMERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FKBP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_1 UniProtKB/TrEMBL
  TPR_19 UniProtKB/TrEMBL
  TPR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28165 PharmGKB
PROSITE FKBP_PPIASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROKAR_LIPOPROTEIN UniProtKB/TrEMBL
  TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TPR_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART TPR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FKBP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF48452 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0A0MTJ1_HUMAN UniProtKB/TrEMBL
  B2R8G6_HUMAN UniProtKB/TrEMBL
  B7Z6M0 ENTREZGENE, UniProtKB/TrEMBL
  C8C9T5 ENTREZGENE
  FKBP8_HUMAN UniProtKB/Swiss-Prot
  M0R1Q0_HUMAN UniProtKB/TrEMBL
  M0R1S6_HUMAN UniProtKB/TrEMBL
  M0R2K9_HUMAN UniProtKB/TrEMBL
  M0R2Q6_HUMAN UniProtKB/TrEMBL
  M0R304_HUMAN UniProtKB/TrEMBL
  Q14318 ENTREZGENE
  Q53GU3 ENTREZGENE
  Q7Z349 ENTREZGENE
  Q86YK6 ENTREZGENE
  U3KQ64_HUMAN UniProtKB/TrEMBL
  U3KQI1_HUMAN UniProtKB/TrEMBL
  V9GZ05_HUMAN UniProtKB/TrEMBL
UniProt Secondary C8C9T5 UniProtKB/Swiss-Prot
  Q53GU3 UniProtKB/Swiss-Prot
  Q7Z349 UniProtKB/Swiss-Prot
  Q86YK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-06 FKBP8  FKBP prolyl isomerase 8  FKBP8  FK506 binding protein 8  Symbol and/or name change 5135510 APPROVED
2015-11-17 FKBP8  FK506 binding protein 8  FKBP8  FK506 binding protein 8, 38kDa  Symbol and/or name change 5135510 APPROVED