ENSMUSG00000024598


Mus musculus

Features
Gene ID: ENSMUSG00000024598
  
Biological name :Fbn2
  
Synonyms : Fbn2 / Fibrillin-2 Fibrillin-2 C-terminal peptide / Q61555
  
Possible biological names infered from orthology : fibrillin 2 / P35556
  
Species: Mus musculus
  
Chr. number: 18
Strand: -1
Band: D3
Gene start: 58008623
Gene end: 58209926
  
Corresponding Affymetrix probe sets: 10458999 (MoGene1.0st)   1422831_at (Mouse Genome 430 2.0 Array)   1454830_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000025497
NCBI entrez gene - 14119     See in Manteia.
MGI - MGI:95490
RefSeq - NM_010181
RefSeq - XM_017317828
RefSeq Peptide - NP_034311
swissprot - Q61555
Ensembl - ENSMUSG00000024598
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 fbn2aENSDARG00000051896Danio rerio
 FBN2ENSGALG00000014686Gallus gallus
 FBN2ENSG00000138829Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Fbn1 / Q61554 / Fibrillin-1 Asprosin / P35555* / fibrillin 1*ENSMUSG0000002720468
Ltbp2 / latent transforming growth factor beta binding protein 2 / Q14767*ENSMUSG0000000202017
Ltbp4 / Q8K4G1 / Latent-transforming growth factor beta-binding protein 4 / Q8N2S1*ENSMUSG0000004048816
Ltbp1 / Q8CG19 / Latent-transforming growth factor beta-binding protein 1 / Q14766*ENSMUSG0000000187016
Ltbp3 / latent transforming growth factor beta binding protein 3 / Q9NS15*ENSMUSG0000002494013
Fbln2 / P37889 / Fibulin-2 / P98095*ENSMUSG0000006408011
Fbln1 / Q08879 / Mus musculus fibulin 1 (Fbln1), transcript variant 2, mRNA. / P23142* / fibulin 1*ENSMUSG000000063697
Efemp2 / Q9WVJ9 / EGF-containing fibulin-like extracellular matrix protein 2 / O95967* / EGF containing fibulin extracellular matrix protein 2*ENSMUSG000000249094
Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*ENSMUSG000000211864
Efemp1 / Q8BPB5 / EGF-containing fibulin-like extracellular matrix protein 1 / Q12805* / EGF containing fibulin extracellular matrix protein 1*ENSMUSG000000204674


Protein motifs (from Interpro)
Interpro ID Name
 IPR000152  EGF-type aspartate/asparagine hydroxylation site
 IPR000742  EGF-like domain
 IPR001881  EGF-like calcium-binding domain
 IPR009030  Growth factor receptor cysteine-rich domain superfamily
 IPR013032  EGF-like, conserved site
 IPR017878  TB domain
 IPR018097  EGF-like calcium-binding, conserved site
 IPR026823  Complement Clr-like EGF domain
 IPR036773  TGF-beta binding (TB) domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0030326 embryonic limb morphogenesis IMP
 biological_processGO:0030501 positive regulation of bone mineralization IMP
 biological_processGO:0035108 limb morphogenesis IMP
 biological_processGO:0035583 sequestering of TGFbeta in extracellular matrix IMP
 biological_processGO:0043010 camera-type eye development IEA
 biological_processGO:0045669 positive regulation of osteoblast differentiation IMP
 biological_processGO:0048048 embryonic eye morphogenesis IEA
 biological_processGO:0060346 bone trabecula formation IMP
 cellular_componentGO:0001527 microfibril IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0031012 extracellular matrix HDA
 molecular_functionGO:0005201 extracellular matrix structural constituent IBA
 molecular_functionGO:0005509 calcium ion binding TAS
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
Degradation of the extracellular matrix
Elastic fibre formation
Molecules associated with elastic fibres


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000564 syndactyly "any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: F9tm1Ver/F9tm1Ver
Genetic Background: involves: 129/Sv * C57BL/6

Allelic Composition: Fbn2fp-3J/Fbn2fp-3J
Genetic Background: involves: 129S4/SvJae * C57BL/6J

Allelic Composition: Fbn2fp/Fbn2fp
Genetic Background: C3Fe(B6)-Fbn2fp/J

Allelic Composition: Fbn2fp-2J/Fbn2fp-2J
Genetic Background: involves: C57BL/6J * C.B10-H2b/LiMcdJ

Allelic Composition: Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

Allelic Composition: Fbn2fp-4J/Fbn2fp-4J
Genetic Background: BALB/cByJ-Fbn2fp-4J/GrsrJ

 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Polr2atm2Cdn/Polr2a+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6J

 MP:0000747 muscle weakness "loss of muscle strength" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Fbn2fp/Fbn2fp
Genetic Background: C3Fe(B6)-Fbn2fp/J

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

Allelic Composition: Fbn2fp/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH * C3HeB/FeHu * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Vav2tm1Kdf/Vav2tm1Kdf,Vav3tm1Swat/Vav3tm1Swat
Genetic Background: B6.129S-Vav2tm1Kdf Vav3tm1Swat

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Pde4dtm2Mct/Pde4dtm2Mct
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

Allelic Composition: Fbn2fp/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH * C3HeB/FeHu * C57BL/6J

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Vav2tm1Kdf/Vav2tm1Kdf,Vav3tm1Swat/Vav3tm1Swat
Genetic Background: B6.129S-Vav2tm1Kdf Vav3tm1Swat

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Abl1tm2.1Goff/Abl1tm2.1Goff,Abl2tm1Ajk/Abl2tm1Ajk,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

 MP:0002932 abnormal joint "defect in the articulation point of two or more bones" [RGD:Rat Genome Database submission, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)

 MP:0002998 abnormal bone remodeling "aberrant process of the turnover of bone matrix that involves a balance of resorbtion and formation by osteoclasts and osteoblasts, respectively" [ava:Anna V. Anagnostopoulos , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Abl1tm2.1Goff/Abl1tm2.1Goff,Abl2tm1Ajk/Abl2tm1Ajk,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

 MP:0004016 decreased bone mass "a reduction in the total amount of bone tissue contained in the skeleton" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Abl1tm2.1Goff/Abl1tm2.1Goff,Abl2tm1Ajk/Abl2tm1Ajk,Tg(Nes-cre)1Kln/0
Genetic Background: involves: 129 * C57BL/6 * C57BL/6J * SJL

 MP:0004083 polysyndactyly "greater than 5 digits present on an autopod with interdigital webbing also present" [rbabiuk:Randall Babiuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Usf1tm1Svl/Usf1+,Usf2tm1Svl/Usf2+
Genetic Background: involves: 129S/SvEv * 129S2/SvPas * C57BL/6J

 MP:0004145 abnormal muscle electrophysiology "anomaly in the function of the musculature as it relates to electrical phenomena" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

 MP:0004818 increased skeletal muscle mass "increase in the physical bulk, or total amount of matter contained within skeletal muscle" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

 MP:0008730 fused phalanges "anomaly of the long bones of the digits resulting in some or all the bones being joined together" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

Allelic Composition: Fbn2fp-4J/Fbn2fp-4J
Genetic Background: BALB/cByJ-Fbn2fp-4J/GrsrJ

 MP:0009402 decreased skeletal muscle fiber diameter "decreased width of the cross-sectional distance that extends from one lateral edge of a skeletal muscle fiber, through its center and to the opposite lateral edge" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

 MP:0009873 abnormal aorta tunica media morphology "any structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Fbn1tm3Rmz/Fbn1tm3Rmz,Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: involves: 129

Allelic Composition: Fbn1tm3Rmz/Fbn1+,Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: involves: 129

 MP:0009874 abnormal interdigital cell death "change in the expected number of cells undergoing programmed cell death (apoptosis) in the autopod during development, precluding the sculpting of normal digits" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: either: (involves: 129/Sv) or (involves: 129/Sv * C57BL/6J)

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
Show

Allelic Composition: Fbn2fp/Fbn2fp
Genetic Background: C3Fe(B6)-Fbn2fp/J

Allelic Composition: Fbn2mz/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH

Allelic Composition: Fbn2fp/Fbn2mz
Genetic Background: involves: BALB/cAnNCrl * C3H/HeH * C3HeB/FeHu * C57BL/6J

 MP:0011088 partial neonatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Fbn1tm1.2Lysa/Fbn1+
Genetic Background: involves: C57BL/6

 MP:0011099 complete lethality throughout fetal growth and development "death of all organisms of a given genotype in a population between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Fbn1tm3Rmz/Fbn1tm3Rmz,Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: involves: 129

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Fbn1tm1.2Lysa/Fbn1+
Genetic Background: involves: C57BL/6

 MP:0011109 partial lethality throughout fetal growth and development "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between the completion of organogenesis and birth (Mus: E14 to approximately E18.5)" [MGI:csmith]
Show

Allelic Composition: Fbn1tm3Rmz/Fbn1+,Fbn2tm1Rmz/Fbn2tm1Rmz
Genetic Background: involves: 129

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000049723 Mmp12 / P34960 / Macrophage metalloelastase / P39900* / matrix metallopeptidase 12*  / reaction
 ENSMUSG00000017737 Mmp9 / P41245 / Matrix metalloproteinase-9 / P14780* / matrix metallopeptidase 9*  / reaction
 ENSMUSG00000029675 Eln / P54320 / Elastin / P15502*  / complex
 ENSMUSG00000050578 Mmp13 / P33435 / Collagenase 3 / P45452* / matrix metallopeptidase 13*  / reaction
 ENSMUSG00000020522 Mfap3 / microfibril associated protein 3 / P55082*  / complex / reaction
 ENSMUSG00000017344 Vtn / P29788 / vitronectin / P04004*  / reaction / complex
 ENSMUSG00000024598 Fbn2 / Q61555 / Fibrillin-2 Fibrillin-2 C-terminal peptide / P35556* / fibrillin 2*  / -
 ENSMUSG00000029163 Q99K41 / Emilin1 / Q9Y6C2* / elastin microfibril interfacer 1*  / complex
 ENSMUSG00000024529 Lox / P28301 / Protein-lysine 6-oxidase / P28300* / lysyl oxidase*  / reaction
 ENSMUSG00000021186 Fbln5 / Q9WVH9 / Fibulin-5 / Q9UBX5*  / complex
 ENSMUSG00000030116 Mfap5 / Q9QZJ6 / Microfibrillar-associated protein 5 / Q13361* / microfibril associated protein 5*  / reaction / complex
 ENSMUSG00000042436 Mfap4 / Q9D1H9 / Microfibril-associated glycoprotein 4 / P55083* / microfibril associated protein 4*  / reaction / complex
 ENSMUSG00000031740 Mmp2 / P33434 / 72 kDa type IV collagenase PEX / P08253* / matrix metallopeptidase 2*  / reaction
 ENSMUSG00000060572 Mfap2 / microfibril associated protein 2 / P55001*  / reaction / complex
 ENSMUSG00000032334 Loxl1 / lysyl oxidase like 1 / Q08397*  / reaction
 ENSMUSG00000048222 C0HKD9 / C0HKD8 / Mfap1b / Microfibrillar-associated protein 1A / MFAP1* / P55081* / microfibril associated protein 1*  / complex / reaction
 ENSMUSG00000030530 Furin / P23188 / P09958* / furin, paired basic amino acid cleaving enzyme*  / reaction






 

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