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General Information



Gene_Symbol Gene_ID Gene_Name Chromosome Alias
FBN2 2201 fibrillin 2  5DA9 







  • Evidence
  • Gene
  • mRNA
  • CDS
  • Protein
  • PTM
  • Enzyme
  • PPi
  • Pathway
  • Structural
  • Domain
  • Ontology
  • SNP
  • Drug
  • External Links



Evidence Information


Pubmed ID Year Sample Information Techniques Mechanism Fold Change Remark
22238052   2012Cell line : -

Source : Department of Pathology, Johns Hopkins University

Sample Type : Formalin-fixed and paraffin-embedded primary CRC

No. of Sample : 124

Stage : TNM Stage I-III

real time RT-PCR, Bisulfite sequencingHypermethylation-Gene silencing of FBN2 and TCERG1L is associated with promoter DNA hypermethylation in CRC tumors and may be excellent biomarkers for the early detection of CRC.

Bisulfite sequencing confirmed cancer-specific methylation of FBN2 and TCERG1L of promoters in colon cancer cell line and cancers but not in normal colon.


Gene Details



Chromosome 5 - NC_000005.10 (128257909..128538042, complement)

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Gene Type protein coding
Gene Family
Description The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly.  
Chromosome 5
Location 5q23-q31
Start 128257909  
End 128538042  
Strand -  
Gene Sequence

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Length 280134  
OMIM ID 612570   
HGNC ID HGNC:3604   
Unigene ID Hs.519294   
Ensembl ID ENSG00000138829   
PharmGKB ID -   

mRNA Information


mRNA ID NM_001999.3
Exon join(1..693,1559..1641,7350..7448,10076..10171, 18675..18770,73122..73319,91437..91562,129244..129369, 142769..142921,144675..144908,145888..146025, 159153..159272,160166..160291,161190..161312, 163293..163415,168709..168861,171613..171666, 173318..173443,176195..176320,180648..180767, 187038..187175,188038..188088,188571..188696, 192459..192686,193533..193658,198982..199110, 199921..200046,201930..202055,202466..202588, 202748..202873,203199..203324,205009..205131, 207348..207470,209222..209347,219042..219164, 219772..219894,225248..225409,226090..226158, 226618..226743,227935..228060,228644..228796, 230840..230908,232095..232220,232407..232532, 232961..233086,234954..235070,236533..236661,  
mRNA Sequence

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Length 10724  



CDS Information


   
Locationjoin(440..693,1559..1641,7350..7448,10076..10171, 18675..18770,73122..73319,91437..91562,129244..129369, 142769..142921,144675..144908,145888..146025, 159153..159272,160166..160291,161190..161312, 163293..163415,168709..168861,171613..171666, 173318..173443,176195..176320,180648..180767, 187038..187175,188038..188088,188571..188696, 192459..192686,193
CDS Sequence

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CCDS ID CCDS34222.1



Protein Information


      
Protein IDNP_001990.2
Protein Namefibrillin 2
Molecular Wt. (Da)311528
Protein Sequence

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Length 2912  
Uniprot IDQ92759
Ensembl Protein ID ENSP00000259895  



Post-translational Modification Information (Source : HPRD)


No matching records could be found.

Enzyme Information


No matching records could be found.

PPi Information


(Click to view network : Source STRING)      View   

               
Interactant Gene ID (Source: HPRD) Gene Symbol HPRD ID Ref Seq ID Technique References
4237MFAP21137NP_059453.1in vitro;yeast 2-hybrid15044481   


Pathway Information


No matching records could be found.

Structure Information


No matching records could be found.

Domain Information




ID Location Description
cd00054658-687  EGF_CA
cl21504658-687  EGF_CA superfamily
cd000541934-1967  EGF_CA
cl215041934-1967  EGF_CA superfamily
cd00054810-845  EGF_CA
cl21504810-845  EGF_CA superfamily
cd000542213-2244  EGF_CA
cl215042213-2244  EGF_CA superfamily
cd000541158-1191  EGF_CA
cl215041158-1191  EGF_CA superfamily
cd000542171-2212  EGF_CA
cl215042171-2212  EGF_CA superfamily
cd00054575-610  EGF_CA
cl21504575-610  EGF_CA superfamily
cd000541650-1683  EGF_CA
cl215041650-1683  EGF_CA superfamily
cd00054617-649  EGF_CA
cl21504617-649  EGF_CA superfamily
cd00054535-565  EGF_CA
cl21504535-565  EGF_CA superfamily
cd113042826-2873  Cadherin_repeat
cl157862826-2873  CA_like superfamily
cd000542056-2089  EGF_CA
cl215042056-2089  EGF_CA superfamily
cd000541532-1564  EGF_CA
cl215041532-1564  EGF_CA superfamily
pfam006831747-1790  TB
cl029261747-1790  TB superfamily
pfam006831011-1051  TB
cl029261011-1051  TB superfamily
pfam00683223-265  TB
cl02926223-265  TB superfamily
pfam006832393-2436  TB
cl029262393-2436  TB superfamily
pfam006831593-1632  TB
cl029261593-1632  TB superfamily
pfam129471412-1447  EGF_3
cl215041412-1447  EGF_CA superfamily
pfam00683713-755  TB
cl02926713-755  TB superfamily
pfam006832111-2154  TB
cl029262111-2154  TB superfamily
pfam00683373-416  TB
cl02926373-416  TB superfamily
pfam00683905-945  TB
cl02926905-945  TB superfamily
pfam146701246-1281  FXa_inhibition
cl215041246-1281  EGF_CA superfamily
pfam146702495-2530  FXa_inhibition
cl215042495-2530  EGF_CA superfamily
cd014752489-2529  vWA_Matrilin
cl000572489-2529  vWFA superfamily
pfam129471371-1406  EGF_3
cl215041371-1406  EGF_CA superfamily
smart00179658-698  EGF_CA
smart001792213-2252  EGF_CA
cd014751240-1280  vWA_Matrilin
cl000571240-1280  vWFA superfamily
cd014751847-1888  vWA_Matrilin
cl000571847-1888  vWFA superfamily
pfam076451367-1404  EGF_CA
smart001791850-1882  EGF_CA
cl215041850-1882  EGF_CA superfamily
cd014751406-1441  vWA_Matrilin
cl000571406-1441  vWFA superfamily
smart001791934-1968  EGF_CA
pfam126622512-2535  cEGF
cd000541850-1884  EGF_CA
pfam126621263-1286  cEGF
cd000541408-1443  EGF_CA
smart001792171-2212  EGF_CA
cd014751887-1929  vWA_Matrilin
cl000571887-1929  vWFA superfamily
cd014752527-2563  vWA_Matrilin
cl000572527-2563  vWFA superfamily
smart00179575-616  EGF_CA
pfam126621672-1695  cEGF
pfam076452491-2530  EGF_CA
smart001791650-1691  EGF_CA
pfam07645318-358  EGF_CA
cl21504318-358  EGF_CA superfamily
pfam07645575-615  EGF_CA
smart001791408-1447  EGF_CA
smart001791158-1190  EGF_CA
pfam076451408-1447  EGF_CA
smart00179535-565  EGF_CA
pfam12662790-813  cEGF
cl21504790-813  EGF_CA superfamily
smart001792056-2096  EGF_CA
pfam12662638-661  cEGF
smart001791115-1149  EGF_CA
cl215041115-1149  EGF_CA superfamily
smart001791973-2015  EGF_CA
cl215041973-2015  EGF_CA superfamily
smart00179810-841  EGF_CA
pfam07645768-808  EGF_CA
smart001792614-2643  EGF_CA
cl215042614-2643  EGF_CA superfamily
cd014751365-1400  vWA_Matrilin
cl000571365-1400  vWFA superfamily
smart001791532-1563  EGF_CA
smart00179617-657  EGF_CA
cd000541367-1401  EGF_CA
smart001791200-1232  EGF_CA
cl215041200-1232  EGF_CA superfamily
pfam076451973-2014  EGF_CA
pfam076451850-1888  EGF_CA
smart001791808-1840  EGF_CA
cl215041808-1840  EGF_CA superfamily
smart001792449-2490  EGF_CA
cl215042449-2490  EGF_CA superfamily
cd014752251-2290  vWA_Matrilin
cl000572251-2290  vWFA superfamily
pfam126621223-1245  cEGF
cl215041223-1245  EGF_CA superfamily
pfam126621996-2019  cEGF
pfam12662597-620  cEGF
smart00179768-809  EGF_CA
smart00179276-306  EGF_CA
cl21504276-306  EGF_CA superfamily


Ontology Information


   
HPRD ID7514
Molecular ClassStructural protein
Molecular FunctionDNA binding (GO:0003677)
Biological ProcessRegulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)  



SNP Information


View SNP Geneview Report   

Drug Information


No matching records could be found.

External Links


                                 
ArrayExpressGO
ICGCGO
Cancer3DGO
COSMICGO
NCGGO
TSGeneGO
Tumor Gene Family of DatabasesGO
CCDBGO
G2SBCGO
Osteosarcoma DatabaseGO
RCDBGO