Efemp2 (EGF containing fibulin extracellular matrix protein 2) - Rat Genome Database

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Gene: Efemp2 (EGF containing fibulin extracellular matrix protein 2) Rattus norvegicus
Analyze
Symbol: Efemp2
Name: EGF containing fibulin extracellular matrix protein 2
RGD ID: 1359496
Description: Predicted to enable heparin binding activity and protein homodimerization activity. Predicted to be involved in several processes, including negative regulation of vascular associated smooth muscle cell proliferation; positive regulation of aortic smooth muscle cell differentiation; and vasculature development. Predicted to act upstream of or within artery development and elastic fiber assembly. Predicted to be located in basement membrane; elastic fiber; and microfibril. Biomarker of osteoarthritis. Human ortholog(s) of this gene implicated in aortic aneurysm; arterial tortuosity syndrome; autosomal recessive cutis laxa type IB; endometrial cancer; and osteosarcoma. Orthologous to human EFEMP2 (EGF containing fibulin extracellular matrix protein 2); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; acetamide; acrylamide.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EGF-containing fibulin-like extracellular matrix protein 2; MGC94840
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
GRCr81212,211,057 - 212,218,739 (+)NCBIGRCr8
mRatBN7.21202,781,692 - 202,789,784 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1202,781,665 - 202,789,414 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1211,134,675 - 211,141,697 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01218,227,788 - 218,234,806 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,918,833 - 210,925,850 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01220,853,695 - 220,861,420 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,783,038 - 227,790,741 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41208,118,537 - 208,125,490 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11208,271,989 - 208,278,942 (+)NCBI
Celera1200,318,443 - 200,324,890 (+)NCBICelera
Cytogenetic Map1q43NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Recessively inherited severe aortic aneurysm caused by mutated EFEMP2. Al-Hassnan ZN, etal., Am J Cardiol. 2012 Jun 1;109(11):1677-80. doi: 10.1016/j.amjcard.2012.01.394. Epub 2012 Mar 20.
2. Fibulin-4 is associated with tumor progression and a poor prognosis in ovarian carcinomas. Chen J, etal., BMC Cancer. 2015 Mar 4;15:91. doi: 10.1186/s12885-015-1100-9.
3. Overexpression of fibulin-4 is associated with tumor progression and poor prognosis in patients with cervical carcinoma. Chen J, etal., Oncol Rep. 2014 Jun;31(6):2601-10. doi: 10.3892/or.2014.3139. Epub 2014 Apr 16.
4. Decreased expression of fibulin-4 in aortic wall of aortic dissection. Huawei P, etal., Vascular. 2014 Feb;22(1):35-41. doi: 10.1177/1708538112473976.
5. Characterization of a distinct lethal arteriopathy syndrome in twenty-two infants associated with an identical, novel mutation in FBLN4 gene, confirms fibulin-4 as a critical determinant of human vascular elastogenesis. Kappanayil M, etal., Orphanet J Rare Dis. 2012 Sep 3;7:61. doi: 10.1186/1750-1172-7-61.
6. Fibulin-4 is a novel Wnt/β-Catenin pathway activator in human osteosarcoma. Li R and Wang L, Biochem Biophys Res Commun. 2016 Jun 10;474(4):730-735. doi: 10.1016/j.bbrc.2016.05.018. Epub 2016 May 5.
7. miR-211-5p contributes to chondrocyte differentiation by suppressing Fibulin-4 expression to play a role in osteoarthritis. Liu H and Luo J, J Biochem. 2019 Dec 1;166(6):495-502. doi: 10.1093/jb/mvz065.
8. Rat ISS GO annotations from MGI mouse gene data--August 2006 MGD data from the GO Consortium
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. GOA pipeline RGD automated data pipeline
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
14. Fibulin-4 is associated with prognosis of endometrial cancer patients and inhibits cancer cell invasion and metastasis via Wnt/β-catenin signaling pathway. Wang T, etal., Oncotarget. 2017 Mar 21;8(12):18991-19012. doi: 10.18632/oncotarget.15086.
15. Fibulin-4 promotes osteosarcoma invasion and metastasis by inducing epithelial to mesenchymal transition via the PI3K/Akt/mTOR pathway. Zhang D, etal., Int J Oncol. 2017 May;50(5):1513-1530. doi: 10.3892/ijo.2017.3921. Epub 2017 Mar 21.
Additional References at PubMed
PMID:19199708   PMID:19855011   PMID:23376485   PMID:23533145   PMID:24006456   PMID:24769233   PMID:30361391  


Genomics

Comparative Map Data
Efemp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81212,211,057 - 212,218,739 (+)NCBIGRCr8
mRatBN7.21202,781,692 - 202,789,784 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1202,781,665 - 202,789,414 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1211,134,675 - 211,141,697 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01218,227,788 - 218,234,806 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,918,833 - 210,925,850 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01220,853,695 - 220,861,420 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,783,038 - 227,790,741 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41208,118,537 - 208,125,490 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11208,271,989 - 208,278,942 (+)NCBI
Celera1200,318,443 - 200,324,890 (+)NCBICelera
Cytogenetic Map1q43NCBI
EFEMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381165,866,441 - 65,872,800 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1165,866,441 - 65,873,592 (-)EnsemblGRCh38hg38GRCh38
GRCh371165,633,912 - 65,640,271 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361165,390,488 - 65,396,852 (-)NCBINCBI36Build 36hg18NCBI36
Build 341165,390,494 - 65,396,793NCBI
Celera1162,957,818 - 62,964,246 (-)NCBICelera
Cytogenetic Map11q13.1NCBI
HuRef1161,960,429 - 61,966,923 (-)NCBIHuRef
CHM1_11165,518,326 - 65,524,819 (-)NCBICHM1_1
T2T-CHM13v2.01165,860,912 - 65,867,272 (-)NCBIT2T-CHM13v2.0
Efemp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39195,523,974 - 5,532,548 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl195,523,982 - 5,532,545 (+)EnsemblGRCm39 Ensembl
GRCm38195,473,946 - 5,482,520 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl195,473,954 - 5,482,517 (+)EnsemblGRCm38mm10GRCm38
MGSCv37195,474,690 - 5,481,854 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36195,474,750 - 5,481,853 (+)NCBIMGSCv36mm8
Celera195,346,431 - 5,353,554 (+)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.33NCBI
Efemp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542219,463,987 - 19,470,605 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542219,463,090 - 19,470,605 (+)NCBIChiLan1.0ChiLan1.0
EFEMP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2967,095,002 - 67,101,456 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11168,137,810 - 68,144,973 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01161,226,755 - 61,233,181 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11164,555,877 - 64,561,950 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1164,555,877 - 64,561,950 (-)Ensemblpanpan1.1panPan2
EFEMP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11851,389,797 - 51,396,109 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1851,389,824 - 51,396,107 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,997,510 - 50,004,619 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01852,427,071 - 52,434,176 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1852,427,841 - 52,434,176 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11851,527,128 - 51,534,242 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01851,101,501 - 51,108,618 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01851,890,821 - 51,897,925 (+)NCBIUU_Cfam_GSD_1.0
Efemp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049477,221,048 - 7,228,320 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365993,663,326 - 3,670,047 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365993,663,288 - 3,670,048 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EFEMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl26,450,332 - 6,463,486 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.126,455,155 - 6,463,493 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.225,559,189 - 5,567,521 (+)NCBISscrofa10.2Sscrofa10.2susScr3
EFEMP2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.118,384,212 - 8,391,501 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl18,385,020 - 8,390,889 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038105,673,390 - 105,680,538 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Efemp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476720,559,795 - 20,566,341 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476720,559,801 - 20,566,326 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Efemp2
18 total Variants
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:143
Count of miRNA genes:108
Interacting mature miRNAs:113
Transcripts:ENSRNOT00000052315
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
61341Bp26Blood pressure QTL 26arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1169537671214537671Rat
61347Bp197Blood pressure QTL 1974.2arterial blood pressure trait (VT:2000000)blood pressure measurement (CMO:0000003)1158633083203633083Rat
61376Bp42Blood pressure QTL 4223.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1197814409242814409Rat
619613Bp77Blood pressure QTL 770.01arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164747424209747424Rat
619613Bp77Blood pressure QTL 770.01arterial blood pressure trait (VT:2000000)diastolic blood pressure (CMO:0000005)1164747424209747424Rat
631214Bw61Body weight QTL613.40.0001intramuscular adipose amount (VT:0010044)intramuscular fat area (CMO:0001162)1173108781218108781Rat
70163Bw20Body weight QTL 205.1body mass (VT:0001259)body weight (CMO:0000012)1174133260219133260Rat
724531Uae5Urinary albumin excretion QTL 54urine albumin amount (VT:0002871)urine albumin level (CMO:0000130)1150700142252085212Rat
724559Pancm1Pancreatic morphology QTL 17.1islet of Langerhans morphology trait (VT:0005215)pancreatic islet damage composite score (CMO:0001156)1181759564214537555Rat
724562Rends1Renal damage susceptibility QTL 10.05kidney glomerulus integrity trait (VT:0010546)index of glomerular damage (CMO:0001135)1169537671214537671Rat
737828Hcas3Hepatocarcinoma susceptibility QTL 34.9liver integrity trait (VT:0010547)liver tumorous lesion volume to total liver volume ratio (CMO:0001082)1144267353222987745Rat
1298084Thym4Thymus enlargement QTL 410.68thymus mass (VT:0004954)thymus weight to body weight ratio (CMO:0000612)1197814409242814409Rat
631658Cm7Cardiac mass QTL 75.320.0001aorta mass (VT:0002845)aorta weight (CMO:0000076)1196248093241248093Rat
737977Bp160Blood pressure QTL 1600.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1181133855226133855Rat
731168Bp154Blood pressure QTL 1543.4arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)194642644214537671Rat
738032Hcas5Hepatocarcinoma susceptibility QTL 53.12liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1176426412257976495Rat
631838Niddm36Non-insulin dependent diabetes mellitus QTL 360.01insulin secretion trait (VT:0003564)calculated pancreatic islet insulin release measurement (CMO:0001217)1184550676229550676Rat
634312Bp143Blood pressure QTL 14330.0002arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1182623426219932796Rat
634313Niddm43Non-insulin dependent diabetes mellitus QTL 43blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1199050459259647894Rat
634321Hc1Hypercalciuria QTL 12.91urine calcium amount (VT:0002985)urine calcium excretion rate (CMO:0000763)1178810256240830002Rat
634338Hcar4Hepatocarcinoma resistance QTL 44.6liver integrity trait (VT:0010547)liver tumorous lesion number to liver area ratio (CMO:0001210)1193422268214537671Rat
1300145Rf7Renal function QTL 72.96urine creatinine amount (VT:0010540)urine creatinine level (CMO:0000125)1185145134221264292Rat
1331790Bp201Blood pressure QTL 2013.127arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1198211513225126682Rat
1354580Scort1Serum corticosterone level QTL 13.4blood corticosterone amount (VT:0005345)blood corticosterone level (CMO:0001172)1156677124256448636Rat
1302787Stl25Serum triglyceride level QTL 252.70.0073blood triglyceride amount (VT:0002644)plasma triglyceride level (CMO:0000548)1180359209210702199Rat
1357335Bw39Body weight QTL 393.3body mass (VT:0001259)body weight (CMO:0000012)1197814409242814409Rat
1354606Bp246Blood pressure QTL 2463.6arterial blood pressure trait (VT:2000000)pulse pressure (CMO:0000292)1102813953218753816Rat
1354610Bw34Body weight QTL 344.1body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1354624Cm35Cardiac mass QTL355.7heart left ventricle mass (VT:0007031)calculated heart weight (CMO:0000073)1177227632256448636Rat
1354646Kidm18Kidney mass QTL 185.7kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1151162512256448636Rat
1354652Kidm20Kidney mass QTL 204.3kidney mass (VT:0002707)calculated kidney weight (CMO:0000160)1177227632256448636Rat
1354653Despr9Despair related QTL 90.00019locomotor behavior trait (VT:0001392)amount of experiment time spent in a discrete space in an experimental apparatus (CMO:0000958)1167909849212909849Rat
1354661Bw33Body weight QTL 335.2body mass (VT:0001259)body weight (CMO:0000012)1151162512256448636Rat
1359018Hrtrt20Heart rate QTL 203.08heart pumping trait (VT:2000009)heart rate (CMO:0000002)1185356336202902618Rat
1558658Bw59Body weight QTL 593.50.0003body mass (VT:0001259)body weight (CMO:0000012)1178784622223784622Rat
1549837Hcar15Hepatocarcinoma resistance QTL 150.05liver integrity trait (VT:0010547)liver tumorous lesion number (CMO:0001068)1153136852260522016Rat
1358191Ept10Estrogen-induced pituitary tumorigenesis QTL 103.8pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)1192825253243914732Rat
1358886Bp260Blood pressure QTL 2603.67arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1151162766225824951Rat
1358898Bp255Blood pressure QTL 2553.6arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1191019702246062233Rat
1549830Bss1Bone structure and strength QTL 14.8femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1172609619217609619Rat
1358292Cm37Cardiac mass QTL 376.20.00000081heart mass (VT:0007028)heart weight to body weight ratio (CMO:0000074)1196248093241248093Rat
1358294Bw37Body weight QTL 3750.000011body mass (VT:0001259)body weight (CMO:0000012)1171310381216310381Rat
1582206Kidm33Kidney mass QTL 336.9kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1188377360224054420Rat
1641926Teswt2Testicular weight QTL 22.82testis mass (VT:1000644)both testes wet weight (CMO:0000175)1197697768238755659Rat
1598853Memor3Memory QTL 34.5exploratory behavior trait (VT:0010471)total horizontal distance resulting from voluntary locomotion in an experimental apparatus (CMO:0001443)1143506580212458660Rat
1600374Mcs17Mammary carcinoma susceptibility QTL 173mammary gland integrity trait (VT:0010552)mammary tumor number (CMO:0000343)1197670404242670404Rat
1600380Niddm70Non-insulin dependent diabetes mellitus QTL 703.10.0008blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1176550523221550523Rat
1600388Niddm67Non-insulin dependent diabetes mellitus QTL 675.840.000004blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1600395Niddm69Non-insulin dependent diabetes mellitus QTL 694.140.0002blood insulin amount (VT:0001560)plasma insulin level (CMO:0000342)1195804352257091168Rat
1600396Niddm68Non-insulin dependent diabetes mellitus QTL 684.970.0003blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)1195804352257091168Rat
1578759Uae30Urinary albumin excretion QTL 303.30.003urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1150700247252085048Rat
1578763Kidm29Kidney mass QTL 293.30.0001kidney mass (VT:0002707)both kidneys wet weight (CMO:0000085)1179567751260522016Rat
1578778Pur4Proteinuria QTL 43.30.003urine total protein amount (VT:0000032)urine total protein excretion rate (CMO:0000756)1150700247252085048Rat
1578780Cm52Cardiac mass QTL 523.30.0001heart mass (VT:0007028)heart wet weight (CMO:0000069)181591954219808434Rat
2292220Bp306Blood pressure QTL 3063.470.00087arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393243914901Rat
2292222Bp307Blood pressure QTL 3073.060.0014arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1164310393213533942Rat
2293083Iddm25Insulin dependent diabetes mellitus QTL 254.18blood glucose amount (VT:0000188)blood glucose level (CMO:0000046)1181829673224569684Rat
2292218Kidm35Kidney mass QTL 35kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1199368955224569684Rat
2302375Bw83Body weight QTL 834.870.0002body mass (VT:0001259)body weight (CMO:0000012)1197697768242697768Rat
2302378Insul11Insulin level QTL 113.25blood insulin amount (VT:0001560)serum insulin level (CMO:0000358)1144267353251128347Rat
2300161Bmd43Bone mineral density QTL 438.40.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
2300174Bmd42Bone mineral density QTL 428.40.0001lumbar vertebra mineral mass (VT:0010511)bone mineral density (CMO:0001226)1171629477216629477Rat
2300175Bmd40Bone mineral density QTL 4015.40.0001femur mineral mass (VT:0010011)bone mineral density (CMO:0001226)1201554356246554356Rat
2300187Bmd41Bone mineral density QTL 418.90.0001femur mineral mass (VT:0010011)volumetric bone mineral density (CMO:0001553)1171629477216629477Rat
2293654Bss30Bone structure and strength QTL 3032.650.0001femur strength trait (VT:0010010)femur midshaft polar moment of inertia (CMO:0001669)1171629477216629477Rat
2293655Bss36Bone structure and strength QTL 3610.660.0001femur strength trait (VT:0010010)femur ultimate force (CMO:0001675)1201554356246554356Rat
2293673Bss27Bone structure and strength QTL 2718.630.0001femur morphology trait (VT:0000559)femur midshaft cortical cross-sectional area (CMO:0001663)1171629477216629477Rat
2293674Bss39Bone structure and strength QTL 397.10.0001femur strength trait (VT:0010010)femur total energy absorbed before break (CMO:0001677)1201554356246554356Rat
2293677Bss41Bone structure and strength QTL 419.380.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra cross-sectional area (CMO:0001689)1171629477216629477Rat
2293689Bss47Bone structure and strength QTL 477.250.0001lumbar vertebra size trait (VT:0010518)lumbar vertebra trabecular cross-sectional area (CMO:0001692)1171629477216629477Rat
2293693Bss22Bone structure and strength QTL 2233.520.0001femur morphology trait (VT:0000559)femur cross-sectional area (CMO:0001661)1171629477216629477Rat
2293694Bss38Bone structure and strength QTL 387.050.0001femur strength trait (VT:0010010)femur stiffness (CMO:0001674)1201554356246554356Rat
2312420Pur17Proteinuria QTL 177.10.0001urine protein amount (VT:0005160)urine total protein excretion rate (CMO:0000756)1156677124218753816Rat
2312564Glom18Glomerulus QTL 182.40.003kidney glomerulus morphology trait (VT:0005325)index of glomerular damage (CMO:0001135)1185356336231689108Rat
6903303Scl34Serum cholesterol QTL 342.50.0033blood cholesterol amount (VT:0000180)plasma total cholesterol level (CMO:0000585)1180359209218108781Rat
8655655Arrd2Age-related retinal degeneration QTL 27.79retinal layer morphology trait (VT:0003727)percentage of study population developing retinopathy during a period of time (CMO:0002453)1183970203243914901Rat
7794788Mcs32Mammary carcinoma susceptibility QTL 322.61mammary gland integrity trait (VT:0010552)mammary tumor incidence/prevalence measurement (CMO:0000946)1115540693238914717Rat
7771612Cm80Cardiac mass QTL 808.4heart left ventricle mass (VT:0007031)heart left ventricle weight (CMO:0000776)1149448574221264292Rat
7421630Bp362Blood pressure QTL 3620.001arterial blood pressure trait (VT:2000000)mean arterial blood pressure (CMO:0000009)1118608292241799120Rat
8552891Epfw5Epididymal fat weight QTL 54.4epididymal fat pad mass (VT:0010421)epididymal fat pad weight to body weight ratio (CMO:0000658)1193113876238113876Rat
7394701Uae46Urinary albumin excretion QTL 463.60.0056urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)1201554356246554356Rat
8655855Arrd3Age-related retinal degeneration QTL 33.07lens clarity trait (VT:0001304)cataract incidence/prevalence measurement (CMO:0001585)1183970203243914901Rat
10059587Bw173Body weight QTL 1733.230.025body mass (VT:0001259)body weight (CMO:0000012)1202069611247069611Rat
10059590Kidm44Kidney mass QTL 443.420.025kidney mass (VT:0002707)both kidneys wet weight to body weight ratio (CMO:0000340)1191033875236033875Rat
10059600Bp378Blood pressure QTL 3783.080.05arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)1176869060221869060Rat


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 3 33 17 10 11 10 2 3 67 35 35 11 2
Low 10 40 31 8 31 6 8 7 6 6
Below cutoff

Sequence


RefSeq Acc Id: ENSRNOT00000052315   ⟹   ENSRNOP00000040335
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,782,460 - 202,789,409 (+)Ensembl
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000078619   ⟹   ENSRNOP00000075411
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,782,395 - 202,789,414 (+)Ensembl
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000080520   ⟹   ENSRNOP00000072344
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,782,413 - 202,789,412 (+)Ensembl
Rnor_6.0 Ensembl1220,854,403 - 220,861,420 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000096611   ⟹   ENSRNOP00000092446
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,782,621 - 202,789,395 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000098626   ⟹   ENSRNOP00000080910
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,781,665 - 202,789,280 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000106689   ⟹   ENSRNOP00000078095
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,781,665 - 202,789,280 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000106904   ⟹   ENSRNOP00000078523
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,781,665 - 202,789,280 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000117314   ⟹   ENSRNOP00000082721
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 Ensembl1202,781,913 - 202,789,414 (+)Ensembl
RefSeq Acc Id: NM_001005907   ⟹   NP_001005907
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,722 - 212,218,739 (+)NCBI
mRatBN7.21202,782,395 - 202,789,414 (+)NCBI
Rnor_6.01220,854,403 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
RGSC_v3.41208,118,537 - 208,125,490 (+)RGD
Celera1200,318,443 - 200,324,890 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277341   ⟹   NP_001264270
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,722 - 212,218,739 (+)NCBI
mRatBN7.21202,782,395 - 202,789,414 (+)NCBI
Rnor_6.01220,854,403 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
Celera1200,318,443 - 200,324,890 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001277346   ⟹   NP_001264275
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,722 - 212,218,739 (+)NCBI
mRatBN7.21202,782,395 - 202,789,414 (+)NCBI
Rnor_6.01220,854,403 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
Celera1200,318,443 - 200,324,890 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006230742   ⟹   XP_006230804
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,057 - 212,218,738 (+)NCBI
mRatBN7.21202,781,704 - 202,789,784 (+)NCBI
Rnor_6.01220,853,697 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006230743   ⟹   XP_006230805
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,382 - 212,218,738 (+)NCBI
mRatBN7.21202,781,692 - 202,789,784 (+)NCBI
Rnor_6.01220,854,105 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006230744   ⟹   XP_006230806
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,965 - 212,218,738 (+)NCBI
mRatBN7.21202,782,477 - 202,789,784 (+)NCBI
Rnor_6.01220,854,572 - 220,861,420 (+)NCBI
Rnor_5.01227,783,038 - 227,790,741 (+)NCBI
Sequence:
RefSeq Acc Id: XM_039108373   ⟹   XP_038964301
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,809 - 212,218,738 (+)NCBI
mRatBN7.21202,782,508 - 202,789,784 (+)NCBI
RefSeq Acc Id: XM_063286847   ⟹   XP_063142917
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,211,855 - 212,218,738 (+)NCBI
RefSeq Acc Id: XM_063286848   ⟹   XP_063142918
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr81212,212,108 - 212,217,078 (+)NCBI
RefSeq Acc Id: NP_001005907   ⟸   NM_001005907
- Peptide Label: isoform 2 precursor
- UniProtKB: Q5XI84 (UniProtKB/TrEMBL),   A0A8I5ZU12 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001264270   ⟸   NM_001277341
- Peptide Label: isoform 1 precursor
- UniProtKB: A0A8I5Y8F2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001264275   ⟸   NM_001277346
- Peptide Label: isoform 3 precursor
- UniProtKB: A0A0G2KAI7 (UniProtKB/TrEMBL),   A0A8I5ZU12 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006230804   ⟸   XM_006230742
- Peptide Label: isoform X1
- UniProtKB: A0A8I5ZYG7 (UniProtKB/TrEMBL),   A0A8I5Y8F2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006230805   ⟸   XM_006230743
- Peptide Label: isoform X3
- UniProtKB: A0A8I5Y8F2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006230806   ⟸   XM_006230744
- Peptide Label: isoform X3
- UniProtKB: A0A8I5Y8F2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000072344   ⟸   ENSRNOT00000080520
RefSeq Acc Id: ENSRNOP00000040335   ⟸   ENSRNOT00000052315
RefSeq Acc Id: ENSRNOP00000075411   ⟸   ENSRNOT00000078619
RefSeq Acc Id: XP_038964301   ⟸   XM_039108373
- Peptide Label: isoform X2
- UniProtKB: A0A8I5Y8F2 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSRNOP00000082721   ⟸   ENSRNOT00000117314
RefSeq Acc Id: ENSRNOP00000078095   ⟸   ENSRNOT00000106689
RefSeq Acc Id: ENSRNOP00000092446   ⟸   ENSRNOT00000096611
RefSeq Acc Id: ENSRNOP00000078523   ⟸   ENSRNOT00000106904
RefSeq Acc Id: ENSRNOP00000080910   ⟸   ENSRNOT00000098626
RefSeq Acc Id: XP_063142917   ⟸   XM_063286847
- Peptide Label: isoform X4
RefSeq Acc Id: XP_063142918   ⟸   XM_063286848
- Peptide Label: isoform X5
Protein Domains
EGF-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-A0A0G2K2R5-F1-model_v2 AlphaFold A0A0G2K2R5 1-443 view protein structure

Transcriptome

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

Promoters
RGD ID:13690659
Promoter ID:EPDNEW_R1184
Type:initiation region
Name:Efemp2_1
Description:EGF containing fibulin extracellular matrix protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Rat AssemblyChrPosition (strand)Source
Rnor_6.01220,854,469 - 220,854,529EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1359496 AgrOrtholog
BioCyc Gene G2FUF-56677 BioCyc
Ensembl Genes ENSRNOG00000020587 Ensembl, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000052315.4 UniProtKB/TrEMBL
  ENSRNOT00000078619 ENTREZGENE
  ENSRNOT00000078619.2 UniProtKB/TrEMBL
  ENSRNOT00000080520 ENTREZGENE
  ENSRNOT00000080520.2 UniProtKB/TrEMBL
  ENSRNOT00000096611.1 UniProtKB/TrEMBL
  ENSRNOT00000098626.1 UniProtKB/TrEMBL
  ENSRNOT00000106689.1 UniProtKB/TrEMBL
  ENSRNOT00000106904.1 UniProtKB/TrEMBL
  ENSRNOT00000117314.1 UniProtKB/TrEMBL
Gene3D-CATH Laminin UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7109182 IMAGE-MGC_LOAD
InterPro cEGF UniProtKB/TrEMBL
  EGF-like_CS UniProtKB/TrEMBL
  EGF-type_Asp/Asn_hydroxyl_site UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  EGF_Ca_bd UniProtKB/TrEMBL
  EGF_Ca_bd_CS UniProtKB/TrEMBL
  Growth_fac_rcpt_N_dom UniProtKB/TrEMBL
KEGG Report rno:293677 UniProtKB/TrEMBL
MGC_CLONE MGC:94840 IMAGE-MGC_LOAD
NCBI Gene 293677 ENTREZGENE
PANTHER EGF-LIKE DOMAIN-CONTAINING PROTEIN UniProtKB/TrEMBL
  PTHR24034:SF177 UniProtKB/TrEMBL
  PTHR24034:SF96 UniProtKB/TrEMBL
Pfam cEGF UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
  hEGF UniProtKB/TrEMBL
PhenoGen Efemp2 PhenoGen
PRINTS THRMBOMODULN UniProtKB/TrEMBL
PROSITE ASX_HYDROXYL UniProtKB/TrEMBL
  EGF_2 UniProtKB/TrEMBL
  EGF_3 UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
RatGTEx ENSRNOG00000020587 RatGTEx
SMART EGF UniProtKB/TrEMBL
  EGF_CA UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/TrEMBL
  SSF57184 UniProtKB/TrEMBL
UniProt A0A0G2K2R5_RAT UniProtKB/TrEMBL
  A0A0G2KAI7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5Y8F2 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZL36_RAT UniProtKB/TrEMBL
  A0A8I5ZU12 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5ZYG7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I6GJS4_RAT UniProtKB/TrEMBL
  A6HZ65_RAT UniProtKB/TrEMBL
  A6HZ66_RAT UniProtKB/TrEMBL
  F7FBE9_RAT UniProtKB/TrEMBL
  Q5XI84 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-10-23 Efemp2  EGF containing fibulin extracellular matrix protein 2  Efemp2  EGF-containing fibulin-like extracellular matrix protein 2  Nomenclature updated to reflect human and mouse nomenclature 1299863 APPROVED
2005-07-29 Efemp2  EGF-containing fibulin-like extracellular matrix protein 2      Symbol and Name status set to provisional 70820 PROVISIONAL