Gene Gene information from NCBI Gene database.
Entrez ID 9158
Gene name FGF1 intracellular binding protein
Gene symbol FIBP
Synonyms (NCBI Gene)
FGFIBPFIBP-1TROFAS
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 information provided by dbSNP.
2
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 miRNA information provided by mirtarbase database.
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608296 3705 ENSG00000172500
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 364
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
14
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Tall stature-intellectual disability-renal anomalies syndrome Likely pathogenic; Pathogenic rs786204849, rs886037928, rs2495607710, rs2495606218 RCV000240847
RCV000240848
RCV003989255
RCV003989356
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FIBP-related disorder Likely benign; Benign rs370619260, rs116455583, rs137950249 RCV003951868
RCV003897946
RCV003940395
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 37564211
Alzheimer Disease Associate 35931864
Aortic Aneurysm Abdominal Associate 27157464
Breast Neoplasms Associate 25096995
Lung Neoplasms Associate 37564211