|  Help  |  About  |  Contact Us

Search our database by keyword

Examples

  • Search this entire website. Enter identifiers, names or keywords for genes, diseases, strains, ontology terms, etc. (e.g. Pax6, Parkinson, ataxia)
  • Use OR to search for either of two terms (e.g. OR mus) or quotation marks to search for phrases (e.g. "dna binding").
  • Boolean search syntax is supported: e.g. Balb* for partial matches or mus AND NOT embryo to exclude a term

Search results 1 to 100 out of 300 for Efemp2

<< First    < Previous  |  Next >    Last >>
0.035s
Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: hamster, Chinese
Gene
Type: gene
Organism: dog, domestic
Protein Domain
Type: Family
Description: Fibulins are a family of ECM glycoproteins characterized by a fibulin-type C-terminal domain preceded by tandem calcium-binding epidermal growth factor (EGF)-like modules. They are involved in protein-protein interaction with the components of basement membrane and extracellular matrix proteins. There are five fibulins, which can be classified into two subgroups. Fibulin-1 and -2 constitute one subgroup. These fibulins are larger than the others due to the presence of a higher number of EGF modules and an extra domain with three anaphylatoxin modules []. Members of the second subgroup, fibulin-3, -4, and -5, are similarly small in size and highly homologous to one another in modular structure. They consist of a modified cbEGF domain at the N terminus followed by five tandem cbEGF modules and the fibulin-type C-terminal region.This entry represents EGF-containing fibulin-like extracellular matrix protein 2 (Efemp2), also known as fibulin-4. Efemp2 binds to tropoelastin and may play an important role in the assembly of elastic fibres during development []. Defects in Efemp2 cause autosomal recessive cutis laxa, an heterogeneous group of connective tissue disorders characterised by cutaneous abnormalities and variable systemic manifestations such as loose skin. In addition to skin, internal organs enriched in elastic fibres, such as the lung and the arteries, are alsoaffected [, , ].
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Publication
First Author: Kobayashi N
Year: 2007
Journal: J Biol Chem
Title: A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization.
Volume: 282
Issue: 16
Pages: 11805-16
Publication
First Author: Papke CL
Year: 2015
Journal: Hum Mol Genet
Title: Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.
Volume: 24
Issue: 20
Pages: 5867-79
Protein
Organism: Mus musculus/domesticus
Length: 82  
Fragment?: false
Publication
First Author: Hucthagowder V
Year: 2006
Journal: Am J Hum Genet
Title: Fibulin-4: a novel gene for an autosomal recessive cutis laxa syndrome.
Volume: 78
Issue: 6
Pages: 1075-80
Publication
First Author: Dasouki M
Year: 2007
Journal: Am J Med Genet A
Title: Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.
Volume: 143A
Issue: 22
Pages: 2635-41
Publication
First Author: Hoyer J
Year: 2009
Journal: Clin Genet
Title: Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygous fibulin-4 gene mutation.
Volume: 76
Issue: 3
Pages: 276-81
Protein
Organism: Mus musculus/domesticus
Length: 120  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 128  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 153  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 443  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 402  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 443  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 280  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 443  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 404  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 455  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 462  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 191  
Fragment?: true
Publication
First Author: Katsanis N
Year: 2000
Journal: Hum Genet
Title: Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.
Volume: 106
Issue: 1
Pages: 66-72
Publication
First Author: Bultmann-Mellin I
Year: 2016
Journal: Dis Model Mech
Title: Function of Ltbp-4L and fibulin-4 in survival and elastogenesis in mice.
Volume: 9
Issue: 11
Pages: 1367-1374
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Gallagher WM
Year: 1999
Journal: Oncogene
Title: MBP1: a novel mutant p53-specific protein partner with oncogenic properties.
Volume: 18
Issue: 24
Pages: 3608-16
Publication
First Author: McLaughlin PJ
Year: 2006
Journal: Mol Cell Biol
Title: Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice.
Volume: 26
Issue: 5
Pages: 1700-9
Publication
First Author: Igoucheva O
Year: 2015
Journal: J Biol Chem
Title: Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.
Volume: 290
Issue: 35
Pages: 21443-59
Publication
First Author: Yamashiro Y
Year: 2015
Journal: Sci Signal
Title: Abnormal mechanosensing and cofilin activation promote the progression of ascending aortic aneurysms in mice.
Volume: 8
Issue: 399
Pages: ra105
Publication  
First Author: Sasaki T
Year: 2016
Journal: Matrix Biol
Title: Loss of fibulin-4 results in abnormal collagen fibril assembly in bone, caused by impaired lysyl oxidase processing and collagen cross-linking.
Volume: 50
Pages: 53-66
Publication
First Author: Halabi CM
Year: 2017
Journal: Sci Adv
Title: Fibulin-4 is essential for maintaining arterial wall integrity in conduit but not muscular arteries.
Volume: 3
Issue: 5
Pages: e1602532
Publication
First Author: Nguyen TAV
Year: 2023
Journal: J Am Heart Assoc
Title: Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.
Volume: 12
Issue: 1
Pages: e026942
Publication
First Author: Kim J
Year: 2015
Journal: Am J Physiol Heart Circ Physiol
Title: Differences in genetic signaling, and not mechanical properties of the wall, are linked to ascending aortic aneurysms in fibulin-4 knockout mice.
Volume: 309
Issue: 1
Pages: H103-13
Publication
First Author: Gallagher WM
Year: 2001
Journal: FEBS Lett
Title: Human fibulin-4: analysis of its biosynthetic processing and mRNA expression in normal and tumour tissues.
Volume: 489
Issue: 1
Pages: 59-66
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: SPLEEN
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876728
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: spleen
Detected: true
Specimen Num: 15
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: KIDNEY
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1737328
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: kidney
Detected: true
Specimen Num: 14
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: eyes
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3267828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: brainstem
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3519728
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: cecum
Detected: true
Specimen Num: 30
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1925228
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: large intestine
Detected: true
Specimen Num: 29
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3552328
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: lymph nodes
Detected: true
Specimen Num: 17
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1720228
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: gallbladder
Detected: true
Specimen Num: 20
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1778728
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: cerebellum
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754428
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: cortex
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: LUNG
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1672828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: lung
Detected: true
Specimen Num: 11
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1691028
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: subcortical region
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: SK. MUS.
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3598828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: skeletal muscle
Detected: true
Specimen Num: 25
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: HEART
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610528
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: heart
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603910
Stage: TS10
Assay Id: MGI:2661686
Age: embryonic day 7.0
Image: 1
Specimen Label: 7
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603918
Stage: TS18
Assay Id: MGI:2661686
Age: embryonic day 11.0
Image: 1
Specimen Label: 11
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603923
Stage: TS23
Assay Id: MGI:2661686
Age: embryonic day 15.0
Image: 1
Specimen Label: 15
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603925
Stage: TS25
Assay Id: MGI:2661686
Age: embryonic day 17.0
Image: 1
Specimen Label: 17
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3283428
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: small intestine
Detected: true
Specimen Num: 28
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1842628
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: adrenal gland
Detected: true
Specimen Num: 23
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3276028
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: bone marrow
Detected: true
Specimen Num: 18
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Male
Emaps: EMAPS:2979428
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: coagulating gland
Detected: true
Specimen Num: 34
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: LIVER
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: liver
Detected: true
Specimen Num: 12
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1718528
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: tongue
Detected: true
Specimen Num: 26
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Male
Emaps: EMAPS:1918028
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: seminal vesicle
Detected: true
Specimen Num: 33
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1750328
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: pancreas
Detected: true
Specimen Num: 13
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1775128
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: salivary gland
Detected: true
Specimen Num: 24
GXD Expression    
Probe: MGI:2661685
Assay Type: Northern blot
Annotation Date: 2003-05-30
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:2661687
Age: postnatal adult
Image: 1
Specimen Label: TESTIS
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Male
Emaps: EMAPS:1797228
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: testis
Detected: true
Specimen Num: 31
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Male
Emaps: EMAPS:1928728
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: prostate
Detected: true
Specimen Num: 35
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1876828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: thymus
Detected: true
Specimen Num: 16
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1832128
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: urinary bladder
Detected: true
Specimen Num: 21
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3599828
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: pituitary gland
Detected: true
Specimen Num: 22
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:3280928
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: olfactory bulb
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1752528
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: skin
Detected: true
Specimen Num: 19
GXD Expression    
Probe: MGI:3624735
Assay Type: RT-PCR
Annotation Date: 2006-06-20
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1702128
Stage: TS28
Assay Id: MGI:3624828
Age: postnatal
Image: Gene 194 RT-PCR
Specimen Label: stomach
Detected: true
Specimen Num: 27