FYB1 (FYN binding protein 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2533
Gene name FYN binding protein 1
Gene symbol FYB1
Synonyms (NCBI Gene)
ADAPFYBPRO0823SLAP-130SLAP130THC3
Chromosome 5
Chromosome location 5p13.1
Summary 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.
2
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.
11
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
602731 4036 ENSG00000082074
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Thrombocytopenia 3 Pathogenic rs1060505056, rs745672593 RCV000477971
RCV000477969
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
FYB1-related disorder Likely benign; Uncertain significance; Conflicting classifications of pathogenicity; Benign rs370543019, rs75710164, rs199876614, rs371334972, rs115158663, rs201568060, rs16868323, rs36011681, rs369993453, rs754545241, rs199924788, rs757096001, rs74512678, rs138071153 RCV003966312
RCV003939002
RCV003919792
RCV003974396
RCV003981429
RCV003916846
RCV003977197
RCV003911522
RCV003941793
RCV003931765
RCV003937006
RCV003922273
RCV003971829
RCV003969779
Hepatocellular carcinoma Benign rs404122 RCV005914783
Uterine carcinosarcoma Benign rs404122 RCV005914784
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease 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