• Gene id: 129804

Gene Summary

• Gene Symbol: FBLN7   Gene   UCSC   Ensembl
• Aliases: TM14
• Gene name: fibulin 7
• Alternate names: fibulin-7, FIBL-7,
• Gene location: 2q13-q14.1 (112138384: 112254557)     Exons: 18     NC_000002.12
• OMIM: 608527

Protein Summary

• Protein general information: Q53RD9  
  • Name: Fibulin 7 (FIBL 7)
  • Length: 439  
  • Mass: 47376
• Sequence:

  MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKSRLAALQNSVGRVGPD
  ALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVVCLPNGTWTGEQPHCRGISECSSQPCQNGGT
  CVEGVNQYRCICPPGRTGNRCQHQAQTAAPEGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDV
  NECELYGQEGRPRLCMHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPE
  CPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATASAPGRAGPNSLRFGI
  VGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDRSFQANHVSKVTIFVSPYDF

• Structural information:
  • Protein Domains: (79..13-)
    (/note="Sushi-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00302-)
    (136..17-)
    (/note="EGF-like-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (224..26-)
    (/note="EGF-like-)
    (-)
    (/evidence=-)
  • Interpro: IPR001881  IPR013032  IPR000742  IPR000152  IPR018097   IPR035976  IPR000436  
  • Prosite: PS00010 PS00022 PS01186 PS50026 PS01187 PS50923
  • CDD: cd00033
  • STRING: ENSP00000331411
• Other Databases: GeneCards:  FBLN7  Malacards:  FBLN7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0008201	heparin binding	IEA	molecular function
GO:0005925	focal adhesion	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq