FIBP (FGF1 intracellular binding protein)

Gene

• Entrez ID: 9158
• Gene name: FGF1 intracellular binding protein
• Gene symbol: FIBP
• Synonyms (NCBI Gene): FGFIBP, FIBP-1, TROFAS
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: Acidic fibroblast growth factor is mitogenic for a variety of different cell types and acts by stimulating mitogenesis or inducing morphological changes and differentiation. The FIBP protein is an intracellular protein that binds selectively to acidic fib

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs786204849	G>A	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs886037928	->TTA	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044999	hsa-miR-186-5p	CLASH	23622248
MIRT043668	hsa-miR-342-3p	CLASH	23622248
MIRT1995573	hsa-miR-4733-3p	CLIP-seq
MIRT1995574	hsa-miR-764	CLIP-seq
MIRT2229543	hsa-miR-3907	CLIP-seq
MIRT2229544	hsa-miR-3919	CLIP-seq
MIRT2229545	hsa-miR-4252	CLIP-seq
MIRT2229546	hsa-miR-4269	CLIP-seq
MIRT2229547	hsa-miR-4643	CLIP-seq
MIRT2229548	hsa-miR-466	CLIP-seq
MIRT1995573	hsa-miR-4733-3p	CLIP-seq
MIRT2229549	hsa-miR-4756-3p	CLIP-seq
MIRT2229550	hsa-miR-4789-3p	CLIP-seq
MIRT1995574	hsa-miR-764	CLIP-seq
MIRT2229551	hsa-miR-891b	CLIP-seq
MIRT2533523	hsa-miR-1203	CLIP-seq
MIRT2533524	hsa-miR-3130-3p	CLIP-seq
MIRT2533525	hsa-miR-3131	CLIP-seq
MIRT2229546	hsa-miR-4269	CLIP-seq
MIRT2533526	hsa-miR-4286	CLIP-seq
MIRT2533527	hsa-miR-4707-5p	CLIP-seq
MIRT2533528	hsa-miR-4751	CLIP-seq
MIRT2533529	hsa-miR-4793-3p	CLIP-seq
MIRT2533530	hsa-miR-515-5p	CLIP-seq
MIRT2533531	hsa-miR-611	CLIP-seq
MIRT2229551	hsa-miR-891b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	9806903
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9806903
GO:0005739	Component	Mitochondrion	TAS	9806903
GO:0008543	Process	Fibroblast growth factor receptor signaling pathway	TAS	9806903
GO:0012505	Component	Endomembrane system	IEA
GO:0016020	Component	Membrane	IDA	9806903
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9806903
GO:0016607	Component	Nuclear speck	IDA
GO:0017134	Function	Fibroblast growth factor binding	IBA
GO:0017134	Function	Fibroblast growth factor binding	IPI	9806903
GO:0070527	Process	Platelet aggregation	HMP	23382103

Other IDs

• MIM: 608296
• HGNC: 3705
• e!Ensembl: ENSG00000172500

Protein

• UniProt ID: O43427
• Protein name: Acidic fibroblast growth factor intracellular-binding protein (aFGF intracellular-binding protein) (FGF-1 intracellular-binding protein)
• Protein function: May be involved in mitogenic function of FGF1. May mediate with IER2 FGF-signaling in the establishment of laterality in the embryo (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF05427	FIBP	3 → 363	Acidic fibroblast growth factor binding (FIBP)	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and pancreas. Expressed at lower levels in brain. Also found in placenta, liver and kidney.
• Sequence:

  MTSELDIFVGNTTLIDEDVYRLWLDGYSVTDAVALRVRSGILEQTGATAAVLQSDTMDHY
  RTFHMLERLLHAPPKLLHQLIFQIPPSRQALLIERYYAFDEAFVREVLGKKLSKGTKKDL
  DDISTKTGITLKSCRRQFDNFKRVFKVVEEMRGSLVDNIQQHFLLSDRLARDYAAIVFFA
  NNRFETGKKKLQYLSFGDFAFCAELMIQNWTLGAVGEAPTDPDSQMDDMDMDLDKEFLQD
  LKELKVLVADKDLLDLHKSLVCTALRGKLGVFSEMEANFKNLSRGLVNVAAKLTHNKDVR
  DLFVDLVEKFVEPCRSDHWPLSDVRFFLNQYSASVHSLDGFRHQALWDRYMGTLRGCLLR
  LYHD

• Sequence length: 364

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Tall stature-intellectual disability-renal anomalies syndrome	Likely pathogenic; Pathogenic	rs786204849, rs886037928, rs2495607710, rs2495606218	RCV000240847 RCV000240848 RCV003989255 RCV003989356	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF FACE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL OCULAR COLOBOMA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FIBP-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THAUVIN-ROBINET-FAIVRE SYNDROME	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	35931864	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	27157464	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25096995	Associate	★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30275459		★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	LHGDN	17497037		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37564211	Associate	★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malrotation of kidney	Malrotation Of Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	27183861		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Dysplasia	Renal dysplasia	BEFREE	27183861		★☆☆☆☆ Found in Text Mining only
Renal dysplasia	Renal dysplasia	BEFREE	27183861		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tall stature-intellectual disability-renal anomalies syndrome	Thauvin-Robinet-Faivre Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
THAUVIN-ROBINET-FAIVRE SYNDROME	Thauvin-Robinet-Faivre Syndrome	GENOMICS_ENGLAND_DG	26660953		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THAUVIN-ROBINET-FAIVRE SYNDROME	Thauvin-Robinet-Faivre Syndrome	ORPHANET_DG	27183861		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THAUVIN-ROBINET-FAIVRE SYNDROME	Thauvin-Robinet-Faivre Syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THAUVIN-ROBINET-FAIVRE SYNDROME	Thauvin-Robinet-Faivre Syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Varicosity	Vulval varices	HPO_DG			★☆☆☆☆ Found in Text Mining only