• Gene id: 2199

Gene Summary

• Gene Symbol: FBLN2   Gene   UCSC   Ensembl
• Gene name: fibulin 2
• Alternate names: fibulin-2, FIBL-2,
• Gene location: 3p25.1 (13549124: 13638407)     Exons: 19     NC_000003.12
• Gene summary(Entrez): This gene encodes an extracellular matrix protein, which belongs to the fibulin family. This protein binds various extracellular ligands and calcium. It may play a role during organ development, in particular, during the differentiation of heart, skeletal
• OMIM: 601437

Protein Summary

• Protein general information: P98095  
  • Name: Fibulin 2 (FIBL 2)
  • Length: 1184  
  • Mass: 126573
  • Tissue specificity: Component of both basement membranes and other connective tissues. Expressed in heart, placenta and ovary.
• Sequence:

  MVLLWEPAGAWLALGLALALGPSVAAAAPRQDCTGVECPPLENCIEEALEPGACCATCVQQGCACEGYQYYDCLQ
  GGFVRGRVPAGQSYFVDFGSTECSCPPGGGKISCQFMLCPELPPNCIEAVVVADSCPQCGQVGCVHAGHKYAAGH
  TVHLPPCRACHCPDAGGELICYQLPGCHGNFSDAEEGDPERHYEDPYSYDQEVAEVEAATALGGEVQAGAVQAGA
  GGPPAALGGGSQPLSTIQAPPWPAVLPRPTAAAALGPPAPVQAKARRVTEDSEEEEEEEEEREEMAVTEQLAAGG
  HRGLDGLPTTAPAGPSLPIQEERAEAGARAEAGARPEENLILDAQATSRSTGPEGVTHAPSLGKAALVPTQAVPG
  SPRDPVKPSPHNILSTSLPDAAWIPPTREVPRKPQVLPHSHVEEDTDPNSVHSIPRSSPEGSTKDLIETCCAAGQ
  QWAIDNDECLEIPESGTEDNVCRTAQRHCCVSYLQEKSCMAGVLGAKEGETCGAEDNDSCGISLYKQCCDCCGLG
  LRVRAEGQSCESNPNLGYPCNHVMLSCCEGEEPLIVPEVRRPPEPAAAPRRVSEAEMAGREALSLGTEAELPNSL
  PGDDQDECLLLPGELCQHLCINTVGSYHCACFPGFSLQDDGRTCRPEGHPPQPEAPQEPALKSEFSQVASNTIPL
  PLPQPNTCKDNGPCKQVCSTVGGSAICSCFPGYAIMADGVSCEDINECVTDLHTCSRGEHCVNTLGSFHCYKALT
  CEPGYALKDGECEDVDECAMGTHTCQPGFLCQNTKGSFYCQARQRCMDGFLQDPEGNCVDINECTSLSEPCRPGF
  SCINTVGSYTCQRNPLICARGYHASDDGTKCVDVNECETGVHRCGEGQVCHNLPGSYRCDCKAGFQRDAFGRGCI
  DVNECWASPGRLCQHTCENTLGSYRCSCASGFLLAADGKRCEDVNECEAQRCSQECANIYGSYQCYCRQGYQLAE
  DGHTCTDIDECAQGAGILCTFRCLNVPGSYQCACPEQGYTMTANGRSCKDVDECALGTHNCSEAETCHNIQGSFR
  CLRFECPPNYVQVSKTKCERTTCHDFLECQNSPARITHYQLNFQTGLLVPAHIFRIGPAPAFTGDTIALNIIKGN
  EEGYFGTRRLNAYTGVVYLQRAVLEPRDFALDVEMKLWRQGSVTTFLAKMHIFFTTFAL

• Structural information:
  • Protein Domains: (445..48-)
    (/note="Anaphylatoxin-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00022-)
    (488..51-)
    (/note="Anaphylatoxin-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00022-)
    (521..55-)
    (/note="Anaphylatoxin-like-3)
    (/evidenc-)
  • Interpro: IPR000020  IPR026823  IPR001881  IPR013032  IPR000742   IPR000152  IPR018097  IPR037286  IPR009030  
  • Prosite: PS01177 PS01178 PS00010 PS01186 PS50026 PS01187
  • CDD: cd00017
  • STRING: ENSP00000384169
• Other Databases: GeneCards:  FBLN2  Malacards:  FBLN2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0050840	extracellular matrix binding	IBA	molecular function
GO:0010811	positive regulation of cell-substrate adhesion	IBA	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0062023	collagen-containing extracellular matrix	IEA	cellular component
GO:0030198	extracellular matrix organization	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0005509	calcium ion binding	TAS	molecular function
GO:0031012	extracellular matrix	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0010811	positive regulation of cell-substrate adhesion	IEA	biological process
GO:0050840	extracellular matrix binding	IEA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	ISS	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0030023	extracellular matrix constituent conferring elasticity	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	ISS	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Embryo quality	MIK: 26361204
Male infertility	MIK: 26361204

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
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray