Fkrp (fukutin related protein) - Rat Genome Database

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Gene: Fkrp (fukutin related protein) Rattus norvegicus
Analyze
Symbol: Fkrp
Name: fukutin related protein
RGD ID: 1305852
Description: Predicted to enable several functions, including dystroglycan binding activity; identical protein binding activity; and laminin binding activity. Predicted to be involved in protein O-linked mannosylation and protein tetramerization. Predicted to act upstream of or within several processes, including monocarboxylic acid metabolic process; nervous system development; and skeletal muscle organ development. Predicted to be located in several cellular components, including Golgi membrane; rough endoplasmic reticulum; and sarcolemma. Predicted to be active in Golgi apparatus and skeletal muscle myofibril. Human ortholog(s) of this gene implicated in dilated cardiomyopathy and muscular dystrophy (multiple). Orthologous to human FKRP (fukutin related protein); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,4-dinitrotoluene; 2,6-dinitrotoluene.
Type: protein-coding
RefSeq Status: PROVISIONAL
Previously known as: fukutin-related protein; LOC308390; MGC116338; ribitol 5-phosphate transferase FKRP
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,607,769 - 86,615,045 (-)NCBIGRCr8
mRatBN7.2177,479,641 - 77,486,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,859,819 - 82,865,434 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,423,863 - 91,429,478 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,614,910 - 84,620,525 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Celera171,964,734 - 71,970,335 (-)NCBICelera
Cytogenetic Map1q21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
basement membrane organization  (ISO)
biological_process  (ND)
bone mineralization  (ISO)
brain development  (ISO)
camera-type eye development  (ISO)
central nervous system development  (ISO)
connective tissue development  (ISO)
connective tissue replacement  (ISO)
creatine metabolic process  (ISO)
diaphragm development  (ISO)
extracellular matrix organization  (ISO)
eye development  (ISO)
filtration diaphragm assembly  (ISO)
gene expression  (ISO)
glial cell differentiation  (ISO)
glycolytic process  (ISO)
glycoprotein biosynthetic process  (ISO)
heart development  (ISO)
heart morphogenesis  (ISO)
in utero embryonic development  (ISO)
inflammatory response  (ISO)
lipid metabolic process  (ISO)
localization of cell  (ISO)
maintenance of protein localization in endoplasmic reticulum  (ISO)
muscle cell differentiation  (ISO)
muscle contraction  (ISO)
muscle structure development  (ISO)
neuromuscular process  (ISO)
neuron migration  (ISO)
oxygen metabolic process  (ISO)
pentitol metabolic process  (ISO)
pentose metabolic process  (ISO)
phosphatidylinositol 3-kinase/protein kinase B signal transduction  (ISO)
protein glycosylation  (ISO)
protein import  (ISO)
protein localization  (ISO)
protein modification process  (ISO)
protein O-linked mannosylation  (IBA,ISO)
protein processing  (ISO)
protein tetramerization  (ISO)
reelin-mediated signaling pathway  (ISO)
respiratory system process  (ISO)
response to activity  (ISO)
response to alcohol  (ISO)
response to glucocorticoid  (ISO)
response to xenobiotic stimulus  (ISO)
skeletal muscle fiber differentiation  (ISO)
skeletal muscle organ development  (ISO)
skeletal muscle tissue development  (ISO)
skeletal muscle tissue regeneration  (ISO)
striated muscle cell differentiation  (ISO)

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
2. Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
3. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Chan YM, etal., Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.
4. Functional requirements for fukutin-related protein in the Golgi apparatus. Esapa CT, etal., Hum Mol Genet 2002 Dec 15;11(26):3319-31.
5. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
6. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
7. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
8. Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation. Harel T, etal., Eur J Hum Genet. 2004 Jan;12(1):38-43.
9. Asian patients with limb girdle muscular dystrophy 2I (LGMD2I). Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
10. Variable cardiac involvement in Tunisian siblings harboring FKRP gene mutations. Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
11. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
12. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
13. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation. Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. Muscle and heart function restoration in a limb girdle muscular dystrophy 2I (LGMD2I) mouse model by systemic FKRP gene delivery. Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
16. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
17. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
18. Comprehensive gene review and curation RGD comprehensive gene curation
19. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark. Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
20. Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I. Torelli S, etal., Neuromuscul Disord. 2005 Dec;15(12):836-43. Epub 2005 Nov 8.
21. A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum. Van Reeuwijk J, etal., Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.
22. Mutation analysis in the FKRP gene provides an explanation for a rare cause of intrafamilial clinical variability in LGMD2I. Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
23. Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]. Wang CH, etal., Am J Pathol. 2011 Jan;178(1):261-72. doi: 10.1016/j.ajpath.2010.11.020. Epub 2010 Dec 23.
Additional References at PubMed
PMID:12477932   PMID:15213246   PMID:17452335   PMID:19900540   PMID:25279699  


Genomics

Comparative Map Data
Fkrp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8186,607,769 - 86,615,045 (-)NCBIGRCr8
mRatBN7.2177,479,641 - 77,486,954 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx182,859,819 - 82,865,434 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0191,423,863 - 91,429,478 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0184,614,910 - 84,620,525 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Celera171,964,734 - 71,970,335 (-)NCBICelera
Cytogenetic Map1q21NCBI
FKRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381946,744,760 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1946,746,046 - 46,776,988 (+)EnsemblGRCh38hg38GRCh38
GRCh371947,249,314 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36Build 36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBICelera
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
T2T-CHM13v2.01949,570,337 - 49,584,398 (+)NCBIT2T-CHM13v2.0
Fkrp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,543,192 - 16,550,657 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl716,543,171 - 16,550,657 (-)EnsemblGRCm39 Ensembl
GRCm38716,809,267 - 16,816,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)EnsemblGRCm38mm10GRCm38
MGSCv37717,394,616 - 17,402,081 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36715,967,789 - 15,975,237 (-)NCBIMGSCv36mm8
Celera714,007,271 - 14,014,735 (-)NCBICelera
Cytogenetic Map7A2NCBI
cM Map79.15NCBI
Fkrp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574786,758 - 788,348 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955574779,672 - 789,621 (+)NCBIChiLan1.0ChiLan1.0
FKRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22052,895,811 - 52,905,652 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11954,766,677 - 54,776,808 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01943,738,339 - 43,748,250 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11952,268,889 - 52,277,888 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,273,546 - 52,276,341 (+)Ensemblpanpan1.1panPan2
FKRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,166,527 - 109,177,393 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,168,644 - 109,178,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,646,333 - 108,657,154 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01109,692,868 - 109,703,829 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1109,693,019 - 109,702,692 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11109,370,001 - 109,380,952 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01109,004,334 - 109,015,149 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01109,872,874 - 109,883,835 (-)NCBIUU_Cfam_GSD_1.0
Fkrp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934918,958,974 - 18,968,719 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936664578,126 - 586,795 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936664577,109 - 586,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,627,471 - 52,639,253 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,627,466 - 52,639,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,948,142 - 47,957,965 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FKRP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,100,399 - 40,128,340 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl640,126,321 - 40,127,808 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366607319,812,461 - 19,825,085 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkrp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248326,849,005 - 6,857,898 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248326,849,001 - 6,858,931 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Fkrp
26 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:553
Count of miRNA genes:262
Interacting mature miRNAs:323
Transcripts:ENSRNOT00000021586
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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.


QTLs in Region (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1554320Bmd1Bone mineral density QTL 112.20.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)150910886060548Rat
631688Hcas2Hepatocarcinoma susceptibility QTL 230.0001liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)15925874115540829Rat
2313062Bmd73Bone mineral density QTL 733.90.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)11148131282174945Rat
2313065Bss67Bone structure and strength QTL 673.10.0001tibia area (VT:1000281)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313069Bss68Bone structure and strength QTL 682.90.0001tibia size trait (VT:0100001)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
2313075Bss66Bone structure and strength QTL 663.40.0001tibia length (VT:0004357)tibia length (CMO:0000450)11148131282174945Rat
2313077Bss69Bone structure and strength QTL 693.50.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)11148131282174945Rat
2313092Bmd72Bone mineral density QTL 722.50.0001tibia mineral mass (VT:1000283)total volumetric bone mineral density (CMO:0001728)11148131282174945Rat
2313097Bss70Bone structure and strength QTL 703.50.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)11148131282174945Rat
631495Bp96Blood pressure QTL 964.52arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)122340647102268831Rat
1331785Rf27Renal function QTL 274.643urine sodium amount (VT:0006274)urine sodium level (CMO:0000129)12887978078430678Rat
1358359Sradr1Stress Responsive Adrenal Weight QTL 14.74adrenal gland mass (VT:0010420)both adrenal glands wet weight (CMO:0000164)130882023123479925Rat
70225Bp58Blood pressure QTL 583.3arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132356093162846471Rat
1300172Bp172Blood pressure QTL 1723.56arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)13273727390665040Rat
10059597Bp377Blood pressure QTL 3773.420.025arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)132737458199368955Rat
1354599Bw29Body weight QTL 293.460.001body mass (VT:0001259)body weight (CMO:0000012)13344984878449848Rat
1354643Foco2Food consumption QTL 27.170.0001eating behavior trait (VT:0001431)food intake rate (CMO:0000427)13344984878449848Rat
8552900Pigfal1Plasma insulin-like growth factor 1 level QTL 17.4blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)13483685879836858Rat
8552948Pigfal11Plasma insulin-like growth factor 1 level QTL 114.7blood insulin-like growth factor amount (VT:0010479)plasma insulin-like growth factor 1 level (CMO:0001299)13483685879836858Rat
9589820Insglur3Insulin/glucose ratio QTL 310.750.001blood insulin amount (VT:0001560)calculated plasma insulin level (CMO:0002170)13483685879836858Rat
1331732Srn4Serum renin concentration QTL 44.467renin activity (VT:0005581)plasma renin activity level (CMO:0000116)13523959878430678Rat
1331792Rf29Renal function QTL 294.589urine potassium amount (VT:0010539)urine potassium level (CMO:0000128)13523959878430678Rat
2313051Bss57Bone structure and strength QTL 573.70.0001tibia strength trait (VT:1000284)bone polar moment of inertia (CMO:0001558)143284731118944897Rat
2313059Bss55Bone structure and strength QTL 553.20.0001tibia size trait (VT:0100001)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313072Bss53Bone structure and strength QTL 534.30.0001tibia length (VT:0004357)tibia length (CMO:0000450)143284731118944897Rat
2313078Bss54Bone structure and strength QTL 543.50.0001tibia area (VT:1000281)tibia midshaft cross-sectional area (CMO:0001717)143284731118944897Rat
2313094Bss58Bone structure and strength QTL 583.70.0001tibia strength trait (VT:1000284)tibia total energy absorbed before break (CMO:0001736)143284731118944897Rat
2313098Bmd70Bone mineral density QTL 703.60.0001tibia mineral mass (VT:1000283)compact volumetric bone mineral density (CMO:0001730)143284731118944897Rat
2313099Bss56Bone structure and strength QTL 562.40.0001tibia size trait (VT:0100001)tibia midshaft endosteal cross-sectional area (CMO:0001716)143284731118944897Rat
2302059Pia36Pristane induced arthritis QTL 363.80.001blood immunoglobulin amount (VT:0002460)serum immunoglobulin G1 level (CMO:0002115)14333300288333002Rat
1331778Rf28Renal function QTL 284.66urine potassium amount (VT:0010539)urine potassium excretion rate (CMO:0000761)14580314078430678Rat
2313402Anxrr24Anxiety related response QTL 24aggression-related behavior trait (VT:0015014)tameness/aggressiveness composite score (CMO:0002136)148963584144267916Rat
4889962Bss94Bone structure and strength QTL 943.8tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)14936146582174945Rat
1578649Bmd8Bone mineral density QTL 84.9femur mineral mass (VT:0010011)trabecular volumetric bone mineral density (CMO:0001729)14939317294393172Rat
1578654Bss10Bone structure and strength QTL 104femur morphology trait (VT:0000559)femoral neck cortical cross-sectional area (CMO:0001702)149393172159356837Rat
634314Niddm44Non-insulin dependent diabetes mellitus QTL 44blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)149393289199050459Rat
6903308Scl36Serum cholesterol QTL 3620.0125blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)15386304190532583Rat
4889919Bss86Bone structure and strength QTL 864.1tibia area (VT:1000281)tibia midshaft total cross-sectional area (CMO:0001715)15389511782174945Rat
4889929Bss87Bone structure and strength QTL 876.7tibia area (VT:1000281)tibia-fibula cortical bone endosteal cross-sectional area (CMO:0001722)15389511782174945Rat
61342Bp27Blood pressure QTL 273.40.0006arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)15673266898773277Rat
2300164Bmd44Bone mineral density QTL 445.40.0001lumbar vertebra mineral mass (VT:0010511)volumetric bone mineral density (CMO:0001553)156949932101949932Rat
2298545Neuinf8Neuroinflammation QTL 84.6nervous system integrity trait (VT:0010566)spinal cord beta-2 microglobulin mRNA level (CMO:0002125)157336763151090257Rat
1300121Hrtrt1Heart rate QTL 13.7heart pumping trait (VT:2000009)heart rate (CMO:0000002)165789093115540829Rat
7421628Bp361Blood pressure QTL 3610.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)166023617118608521Rat
631512Scl6Serum cholesterol level QTL 69.6blood cholesterol amount (VT:0000180)serum total cholesterol level (CMO:0000363)17219768090508767Rat


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 appendage
High
Medium 33 6 6 3 6 2 74 20 32 6
Low 3 10 51 35 16 35 8 9 15 9 5 8
Below cutoff

Sequence


Reference Sequences
RefSeq Acc Id: ENSRNOT00000021586   ⟹   ENSRNOP00000021586
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl177,479,589 - 77,486,105 (-)Ensembl
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)Ensembl
RefSeq Acc Id: ENSRNOT00000115713   ⟹   ENSRNOP00000089397
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl177,476,084 - 77,486,992 (-)Ensembl
RefSeq Acc Id: NM_001025678   ⟹   NP_001020849
RefSeq Status: PROVISIONAL
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,769 - 86,613,370 (-)NCBI
mRatBN7.2177,479,672 - 77,485,273 (-)NCBI
Rnor_6.0178,733,506 - 78,739,107 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
RGSC_v3.4177,133,884 - 77,139,485 (-)RGD
Celera171,964,734 - 71,970,335 (-)RGD
Sequence:
RefSeq Acc Id: XM_006228414   ⟹   XP_006228476
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,775 - 86,615,045 (-)NCBI
mRatBN7.2177,479,641 - 77,486,948 (-)NCBI
Rnor_6.0178,733,461 - 78,740,803 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006228415   ⟹   XP_006228477
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8186,607,775 - 86,615,037 (-)NCBI
mRatBN7.2177,479,641 - 77,486,954 (-)NCBI
Rnor_6.0178,733,461 - 78,740,803 (-)NCBI
Rnor_5.0179,980,656 - 79,987,961 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001020849   ⟸   NM_001025678
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006228476   ⟸   XM_006228414
- Peptide Label: isoform X1
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006228477   ⟸   XM_006228415
- Peptide Label: isoform X1
- UniProtKB: Q4KLJ4 (UniProtKB/TrEMBL),   A6J8C8 (UniProtKB/TrEMBL),   A0A8I6GI25 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000021586   ⟸   ENSRNOT00000021586
RefSeq Acc Id: ENSRNOP00000089397   ⟸   ENSRNOT00000115713

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q4KLJ4-F1-model_v2 AlphaFold Q4KLJ4 1-494 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1305852 AgrOrtholog
BioCyc Gene G2FUF-60594 BioCyc
BioCyc Pathway PWY-7981 [alpha-dystroglycan glycosylation] BioCyc
BioCyc Pathway Image PWY-7981 BioCyc
Ensembl Genes ENSRNOG00000016055 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000021586 ENTREZGENE
  ENSRNOT00000021586.5 UniProtKB/TrEMBL
  ENSRNOT00000115713.1 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7382397 IMAGE-MGC_LOAD
InterPro LicD-like UniProtKB/TrEMBL
KEGG Report rno:308390 UniProtKB/TrEMBL
MGC_CLONE MGC:116338 IMAGE-MGC_LOAD
NCBI Gene 308390 ENTREZGENE
PANTHER FUKUTIN RELATED PROTEIN UniProtKB/TrEMBL
  FUKUTIN-RELATED PROTEIN UniProtKB/TrEMBL
Pfam LicD UniProtKB/TrEMBL
PhenoGen Fkrp PhenoGen
RatGTEx ENSRNOG00000016055 RatGTEx
UniProt A0A8I6GI25 ENTREZGENE, UniProtKB/TrEMBL
  A6J8C8 ENTREZGENE
  Q4KLJ4 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A6J8C8 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2005-12-06 Fkrp  fukutin related protein  Fkrp_predicted  fukutin related protein (predicted)  Symbol and Name updated 1559027 APPROVED
2005-01-12 Fkrp_predicted  fukutin related protein (predicted)      Symbol and Name status set to approved 70820 APPROVED