FYB1 (FYN binding protein 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2533
Gene name Gene Name - the full gene name approved by the HGNC.
FYN binding protein 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FYB1
Synonyms (NCBI Gene) Gene synonyms aliases
ADAP, FYB, PRO0823, SLAP-130, SLAP130, THC3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is an adapter for the FYN protein and LCP2 signaling cascades in T-cells. The encoded protein is involved in platelet activation and controls the expression of interleukin-2. Three transcript variants encoding different is
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
SNP ID Visualize variation Clinical significance Consequence
rs745672593 C>A,G,T Pathogenic Coding sequence variant, stop gained, missense variant
rs1060505056 AT>- Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT639519 hsa-miR-3606-3p HITS-CLIP 23824327
MIRT639518 hsa-miR-513a-3p HITS-CLIP 23824327
MIRT639517 hsa-miR-513c-3p HITS-CLIP 23824327
MIRT639516 hsa-miR-33a-3p HITS-CLIP 23824327
MIRT639515 hsa-miR-656-3p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(19)
GO ID Ontology Definition Evidence Reference
GO:0005102 Function Signaling receptor binding TAS 10747096
GO:0005515 Function Protein binding IPI 10409671, 10570256, 10671560, 16461356, 17474147, 19798671, 20534575, 22074159, 25814554, 27335501
GO:0005634 Component Nucleus IEA
GO:0005634 Component Nucleus TAS 9207119
GO:0005737 Component Cytoplasm IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602731 4036 ENSG00000082074
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O15117
Protein name FYN-binding protein 1 (Adhesion and degranulation promoting adaptor protein) (ADAP) (FYB-120/130) (p120/p130) (FYN-T-binding protein) (SLAP-130) (SLP-76-associated phosphoprotein)
Protein function Acts as an adapter protein of the FYN and LCP2 signaling cascades in T-cells (By similarity). May play a role in linking T-cell signaling to remodeling of the actin cytoskeleton (PubMed:10747096, PubMed:16980616). Modulates the expression of IL2
PDB 1RI9 , 2GTJ , 2GTO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 515 → 570 Variant SH3 domain Domain
PF14603 hSH3 695 → 783 Helically-extended SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in hematopoietic tissues such as myeloid and T-cells, spleen and thymus. Not expressed in B-cells, nor in non-lymphoid tissues.
Sequence 
MAKYNTGGNPTEDVSVNSRPFRVTGPNSSSGIQARKNLFNNQGNASPPAGPSNVPKFGSP
KPPVAVKPSSEEKPDKEPKPPFLKPTGAGQRFGTPASLTTRDPEAKVGFLKPVGPKPINL
PKEDSKPTFPWPPGNKPSLHSVNQDHDLKPLGPKSGPTPPTSENEQKQAFPKLTGVKGKF
MSASQDLEPKPLFPKPAFGQKPPLSTENSHEDESPMKNVSSSKGSPAPLGVRSKSGPLKP
AREDSENKDHAGEISSLPFPGVVLKPAASRGGPGLSKNGEEKKEDRKIDAAKNTFQSKIN
QEELASGTPPARFPKAPSKLTVGGPWGQSQEKEKGDKNSATPKQKPLPPLFTLGPPPPKP
NRPPNVDLTKFHKTSSGNSTSKGQTSYSTTSLPPPPPSHPASQPPLPASHPSQPPVPSLP
PRNIKPPFDLKSPVNEDNQDGVTHSDGAGNLDEEQDSEGETYEDIEASKEREKKREKEEK
KRLELEKKEQKEKEKKEQEIKKKFKLTGPIQVIHLAKACCDVKGGKNELSFKQGEQIEII
RITDNPEGKWLGRTARGSYGYIKTTAVEIDYDSLKLKKDSLGAPSRPIEDDQEVYDDVAE
QDDISSHSQSGSGGIFPPPPDDDIYDGIEEEDADDGFPAPPKQLDMGDEVYDDVDTSDFP
VSSAEMSQGTNVGKAKTEEKDLKKLKKQEKEEKDFRKKFKYDGEIRVLYSTKVTTSITSK
KWGTRDLQVKPGESLEVIQTTDDTKVLCRNEEGKYGYVLRSYLADNDGEIYDDIADGCIY
DND
Sequence length 783
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Rap1 signaling pathway
Yersinia infection 		  Generation of second messenger molecules
Signal regulatory protein family interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Thrombocytopenia thrombocytopenia 3 rs1060505056, rs745672593 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Glioblastoma Glioblastoma N/A N/A GWAS
Show/Hide Text Mining Associations (29)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acromegaly Inhibit 19093000
Adenocarcinoma Associate 27513329
Adenocarcinoma of Lung Associate 27513329
Ageusia Associate 27968956
Asthma Associate 32828590
Atherosclerosis Associate 34122426
Breast Neoplasms Associate 22928984
Bruton type agammaglobulinemia Associate 10688822
Carcinoma Basal Cell Associate 34104083
Carcinoma Non Small Cell Lung Associate 27513329