FBLN7 (fibulin 7)

Gene

• Entrez ID: 129804
• Gene name: Fibulin 7
• Gene symbol: FBLN7
• Synonyms (NCBI Gene): TM14
• Chromosome: 2
• Chromosome location: 2q13-q14.1

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT440670	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT440670	hsa-miR-377-3p	HITS-CLIP	24374217
MIRT990086	hsa-miR-3064-3p	CLIP-seq
MIRT990087	hsa-miR-337-3p	CLIP-seq
MIRT990088	hsa-miR-4436b-5p	CLIP-seq
MIRT1993401	hsa-miR-3140-3p	CLIP-seq
MIRT1993402	hsa-miR-3150b-3p	CLIP-seq
MIRT1993403	hsa-miR-3689a-3p	CLIP-seq
MIRT1993404	hsa-miR-3689c	CLIP-seq
MIRT1993405	hsa-miR-4269	CLIP-seq
MIRT990088	hsa-miR-4436b-5p	CLIP-seq
MIRT1993406	hsa-miR-4514	CLIP-seq
MIRT1993407	hsa-miR-4692	CLIP-seq
MIRT1993408	hsa-miR-4728-5p	CLIP-seq
MIRT1993409	hsa-miR-4742-5p	CLIP-seq
MIRT1993410	hsa-miR-4784	CLIP-seq
MIRT1993411	hsa-miR-765	CLIP-seq
MIRT2227296	hsa-miR-3714	CLIP-seq
MIRT2227297	hsa-miR-548an	CLIP-seq
MIRT1993401	hsa-miR-3140-3p	CLIP-seq
MIRT1993405	hsa-miR-4269	CLIP-seq
MIRT1993406	hsa-miR-4514	CLIP-seq
MIRT1993407	hsa-miR-4692	CLIP-seq
MIRT1993409	hsa-miR-4742-5p	CLIP-seq
MIRT2531250	hsa-miR-510	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0007155	Process	Cell adhesion	IEA
GO:0008201	Function	Heparin binding	IEA
GO:0031012	Component	Extracellular matrix	IEA
GO:0043395	Function	Heparan sulfate proteoglycan binding	IEA

Other IDs

• MIM: 611551
• HGNC: 26740
• e!Ensembl: ENSG00000144152

Protein

• UniProt ID: Q53RD9
• Protein name: Fibulin-7 (FIBL-7)
• Protein function: An adhesion molecule that interacts with extracellular matrix molecules in developing teeth and may play important roles in differentiation and maintenance of odontoblasts as well as in dentin formation.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	81 → 134	Sushi repeat (SCR repeat)	Domain
  PF00008	EGF	140 → 170	EGF-like domain	Domain
  PF07645	EGF_CA	270 → 325	Calcium-binding EGF domain	Domain

• Sequence:

  MVPSSPRALFLLLLILACPEPRASQNCLSKQQLLSAIRQLQQLLKGQETRFAEGIRHMKS
  RLAALQNSVGRVGPDALPVSCPALNTPADGRKFGSKYLVDHEVHFTCNPGFRLVGPSSVV
  CLPNGTWTGEQPHCRGISECSSQPCQNGGTCVEGVNQYRCICPPGRTGNRCQHQAQTAAP
  EGSVAGDSAFSRAPRCAQVERAQHCSCEAGFHLSGAAGDSVCQDVNECELYGQEGRPRLC
  MHACVNTPGSYRCTCPGGYRTLADGKSCEDVDECVGLQPVCPQGTTCINTGGSFQCVSPE
  CPEGSGNVSYVKTSPFQCERNPCPMDSRPCRHLPKTISFHYLSLPSNLKTPITLFRMATA
  SAPGRAGPNSLRFGIVGGNSRGHFVMQRSDRQTGDLILVQNLEGPQTLEVDVDMSEYLDR
  SFQANHVSKVTIFVSPYDF

• Sequence length: 439

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations