Search results:
General Information
- 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    | 2012 | Cell 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 sequencing | Hypermethylation | - | 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

| 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 |    Download   Select all |
| 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 |    Download   Select all |
| Length | 10724   |
CDS Information
| Location | join(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 |    Download   Select all |
| CCDS ID | CCDS34222.1 |    
Protein Information
| Protein ID | NP_001990.2 |
|---|---|
| Protein Name | fibrillin 2 |
| Molecular Wt. (Da) | 311528 |
| Protein Sequence |    Download   Select all |
| Length | 2912   |
| Uniprot ID | Q92759 |    
| 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 |
|---|---|---|---|---|---|
| 4237 |    MFAP2 |    1137 |    NP_059453.1 |    in vitro;yeast 2-hybrid |    15044481    |
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| cd00054 | 658-687  | EGF_CA |
| cl21504 | 658-687  | EGF_CA superfamily |
| cd00054 | 1934-1967  | EGF_CA |
| cl21504 | 1934-1967  | EGF_CA superfamily |
| cd00054 | 810-845  | EGF_CA |
| cl21504 | 810-845  | EGF_CA superfamily |
| cd00054 | 2213-2244  | EGF_CA |
| cl21504 | 2213-2244  | EGF_CA superfamily |
| cd00054 | 1158-1191  | EGF_CA |
| cl21504 | 1158-1191  | EGF_CA superfamily |
| cd00054 | 2171-2212  | EGF_CA |
| cl21504 | 2171-2212  | EGF_CA superfamily |
| cd00054 | 575-610  | EGF_CA |
| cl21504 | 575-610  | EGF_CA superfamily |
| cd00054 | 1650-1683  | EGF_CA |
| cl21504 | 1650-1683  | EGF_CA superfamily |
| cd00054 | 617-649  | EGF_CA |
| cl21504 | 617-649  | EGF_CA superfamily |
| cd00054 | 535-565  | EGF_CA |
| cl21504 | 535-565  | EGF_CA superfamily |
| cd11304 | 2826-2873  | Cadherin_repeat |
| cl15786 | 2826-2873  | CA_like superfamily |
| cd00054 | 2056-2089  | EGF_CA |
| cl21504 | 2056-2089  | EGF_CA superfamily |
| cd00054 | 1532-1564  | EGF_CA |
| cl21504 | 1532-1564  | EGF_CA superfamily |
| pfam00683 | 1747-1790  | TB |
| cl02926 | 1747-1790  | TB superfamily |
| pfam00683 | 1011-1051  | TB |
| cl02926 | 1011-1051  | TB superfamily |
| pfam00683 | 223-265  | TB |
| cl02926 | 223-265  | TB superfamily |
| pfam00683 | 2393-2436  | TB |
| cl02926 | 2393-2436  | TB superfamily |
| pfam00683 | 1593-1632  | TB |
| cl02926 | 1593-1632  | TB superfamily |
| pfam12947 | 1412-1447  | EGF_3 |
| cl21504 | 1412-1447  | EGF_CA superfamily |
| pfam00683 | 713-755  | TB |
| cl02926 | 713-755  | TB superfamily |
| pfam00683 | 2111-2154  | TB |
| cl02926 | 2111-2154  | TB superfamily |
| pfam00683 | 373-416  | TB |
| cl02926 | 373-416  | TB superfamily |
| pfam00683 | 905-945  | TB |
| cl02926 | 905-945  | TB superfamily |
| pfam14670 | 1246-1281  | FXa_inhibition |
| cl21504 | 1246-1281  | EGF_CA superfamily |
| pfam14670 | 2495-2530  | FXa_inhibition |
| cl21504 | 2495-2530  | EGF_CA superfamily |
| cd01475 | 2489-2529  | vWA_Matrilin |
| cl00057 | 2489-2529  | vWFA superfamily |
| pfam12947 | 1371-1406  | EGF_3 |
| cl21504 | 1371-1406  | EGF_CA superfamily |
| smart00179 | 658-698  | EGF_CA |
| smart00179 | 2213-2252  | EGF_CA |
| cd01475 | 1240-1280  | vWA_Matrilin |
| cl00057 | 1240-1280  | vWFA superfamily |
| cd01475 | 1847-1888  | vWA_Matrilin |
| cl00057 | 1847-1888  | vWFA superfamily |
| pfam07645 | 1367-1404  | EGF_CA |
| smart00179 | 1850-1882  | EGF_CA |
| cl21504 | 1850-1882  | EGF_CA superfamily |
| cd01475 | 1406-1441  | vWA_Matrilin |
| cl00057 | 1406-1441  | vWFA superfamily |
| smart00179 | 1934-1968  | EGF_CA |
| pfam12662 | 2512-2535  | cEGF |
| cd00054 | 1850-1884  | EGF_CA |
| pfam12662 | 1263-1286  | cEGF |
| cd00054 | 1408-1443  | EGF_CA |
| smart00179 | 2171-2212  | EGF_CA |
| cd01475 | 1887-1929  | vWA_Matrilin |
| cl00057 | 1887-1929  | vWFA superfamily |
| cd01475 | 2527-2563  | vWA_Matrilin |
| cl00057 | 2527-2563  | vWFA superfamily |
| smart00179 | 575-616  | EGF_CA |
| pfam12662 | 1672-1695  | cEGF |
| pfam07645 | 2491-2530  | EGF_CA |
| smart00179 | 1650-1691  | EGF_CA |
| pfam07645 | 318-358  | EGF_CA |
| cl21504 | 318-358  | EGF_CA superfamily |
| pfam07645 | 575-615  | EGF_CA |
| smart00179 | 1408-1447  | EGF_CA |
| smart00179 | 1158-1190  | EGF_CA |
| pfam07645 | 1408-1447  | EGF_CA |
| smart00179 | 535-565  | EGF_CA |
| pfam12662 | 790-813  | cEGF |
| cl21504 | 790-813  | EGF_CA superfamily |
| smart00179 | 2056-2096  | EGF_CA |
| pfam12662 | 638-661  | cEGF |
| smart00179 | 1115-1149  | EGF_CA |
| cl21504 | 1115-1149  | EGF_CA superfamily |
| smart00179 | 1973-2015  | EGF_CA |
| cl21504 | 1973-2015  | EGF_CA superfamily |
| smart00179 | 810-841  | EGF_CA |
| pfam07645 | 768-808  | EGF_CA |
| smart00179 | 2614-2643  | EGF_CA |
| cl21504 | 2614-2643  | EGF_CA superfamily |
| cd01475 | 1365-1400  | vWA_Matrilin |
| cl00057 | 1365-1400  | vWFA superfamily |
| smart00179 | 1532-1563  | EGF_CA |
| smart00179 | 617-657  | EGF_CA |
| cd00054 | 1367-1401  | EGF_CA |
| smart00179 | 1200-1232  | EGF_CA |
| cl21504 | 1200-1232  | EGF_CA superfamily |
| pfam07645 | 1973-2014  | EGF_CA |
| pfam07645 | 1850-1888  | EGF_CA |
| smart00179 | 1808-1840  | EGF_CA |
| cl21504 | 1808-1840  | EGF_CA superfamily |
| smart00179 | 2449-2490  | EGF_CA |
| cl21504 | 2449-2490  | EGF_CA superfamily |
| cd01475 | 2251-2290  | vWA_Matrilin |
| cl00057 | 2251-2290  | vWFA superfamily |
| pfam12662 | 1223-1245  | cEGF |
| cl21504 | 1223-1245  | EGF_CA superfamily |
| pfam12662 | 1996-2019  | cEGF |
| pfam12662 | 597-620  | cEGF |
| smart00179 | 768-809  | EGF_CA |
| smart00179 | 276-306  | EGF_CA |
| cl21504 | 276-306  | EGF_CA superfamily |
Ontology Information
| HPRD ID | 7514 |    
|---|---|
| Molecular Class | Structural protein |
| Molecular Function | DNA binding (GO:0003677) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219)   |
Drug Information
No matching records could be found.
External Links
| ArrayExpress | GO |    
|---|---|
| ICGC | GO |    
| Cancer3D | GO |    
| COSMIC | GO |    
| NCG | GO |    
| TSGene | GO |    
| Tumor Gene Family of Databases | GO |    
| CCDB | GO |    
| G2SBC | GO |    
| Osteosarcoma Database | GO |    
| RCDB | GO |    
