Aliases for FYB2 Gene

Aliases for FYB2 Gene

  • FYN Binding Protein 2 2 3 5
  • Activation-Dependent, Raft-Recruited ADAP-Like Phosphoprotein 2 3 4
  • ARAP 2 3 4
  • FYN-Binding Protein 2 3 4
  • RP4-758N20.2 2 3
  • C1orf168 3 4
  • Chromosome 1 Open Reading Frame 168 2
  • Uncharacterized Protein C1orf168 3
  • FLJ43208 2
  • FYB2 5

External Ids for FYB2 Gene

Previous HGNC Symbols for FYB2 Gene

  • C1orf168

Summaries for FYB2 Gene

GeneCards Summary for FYB2 Gene

FYB2 (FYN Binding Protein 2) is a Protein Coding gene. Diseases associated with FYB2 include Hypertropia and Syringomyelia. An important paralog of this gene is FYB1.

UniProtKB/Swiss-Prot Summary for FYB2 Gene

  • Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FYB2 Gene

Genomics for FYB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FYB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J056815 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 250.4 +14.0 14042 4.1 CEBPA ATF3 ZIC2 YY1 MXD4 CEBPB FOXA1 ZNF341 ZFP64 KMT2B FYB2 ENSG00000229913 HSALNG0003896 PRKAA2
GH01J056831 Enhancer 1.1 FANTOM5 Ensembl ENCODE 250.7 -0.6 -615 2.4 ZNF654 SSRP1 JUND CTCF REST TRIM22 FOXA2 RAD21 SMC3 TEAD3 FYB2 C8A
GH01J056907 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.2 -78.0 -77982 4.2 NCOR1 CEBPA ATF3 CHD4 YY1 MXD4 KLF11 HOMEZ KMT2B THAP11 C8B C8A FYB2 HSALNG0003900 ENSG00000236341
GH01J056572 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 7.9 +254.8 254756 10.3 ZNF654 ZNF600 ZNF580 ZMYM3 CEBPA ZSCAN16 POLR2A ZIC2 ZBTB10 CHD4 PLPP3 C8A FYB2 C8B RPSAP20 PRKAA2 lnc-FYB2-4 RPL23AP85 lnc-PRKAA2-9 ENSG00000284686
GH01J056796 Enhancer 0.5 Ensembl 11.9 +34.2 34185 2.4 ZIC2 MAX RFX5 MAFK NFIB KLF1 POLR2A EP300 FYB2 ENSG00000229913 HSALNG0003896 HSALNG0003897 PRKAA2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FYB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FYB2

Genomic Locations for FYB2 Gene

Latest Assembly
chr1:56,718,789-56,831,986
(GRCh38/hg38)
Size:
113,198 bases
Orientation:
Minus strand

Previous Assembly
chr1:57,184,462-57,285,077
(GRCh37/hg19 by Entrez Gene)
Size:
100,616 bases
Orientation:
Minus strand

chr1:57,184,477-57,285,369
(GRCh37/hg19 by Ensembl)
Size:
100,893 bases
Orientation:
Minus strand

Genomic View for FYB2 Gene

Genes around FYB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FYB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FYB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FYB2 Gene

Proteins for FYB2 Gene

  • Protein details for FYB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5VWT5-FYB2_HUMAN
    Recommended name:
    FYN-binding protein 2
    Protein Accession:
    Q5VWT5
    Secondary Accessions:
    • Q63HM3
    • Q6ZUY6

    Protein attributes for FYB2 Gene

    Size:
    728 amino acids
    Molecular mass:
    82070 Da
    Quaternary structure:
    • Interacts with SKAP1, LCK and FYN. The phosphorylated form interacts with LCP2.

    Alternative splice isoforms for FYB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FYB2 Gene

Post-translational modifications for FYB2 Gene

  • Phosphorylation is required for its function in T-cell activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for FYB2 Gene

Domains & Families for FYB2 Gene

Gene Families for FYB2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FYB2 Gene

genes like me logo Genes that share domains with FYB2: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FYB2 Gene

Function for FYB2 Gene

Molecular function for FYB2 Gene

UniProtKB/Swiss-Prot Function:
Adapter protein that plays a role in T-cell receptor (TCR)-mediated activation of signaling pathways. Required for T-cell activation and integrin-mediated T-cell adhesion in response to TCR stimulation (PubMed:27335501).

Phenotypes From GWAS Catalog for FYB2 Gene

Gene Ontology (GO) - Molecular Function for FYB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 27335501
genes like me logo Genes that share ontologies with FYB2: view

Phenotypes for FYB2 Gene

genes like me logo Genes that share phenotypes with FYB2: view

miRNA for FYB2 Gene

miRTarBase miRNAs that target FYB2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FYB2 Gene

Localization for FYB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FYB2 Gene

Membrane raft. Note=Recruited to membrane rafts and immunological synapse after TCR stimulation. {ECO:0000269 PubMed:27335501}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FYB2 gene
Compartment Confidence
plasma membrane 5
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for FYB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001772 immunological synapse IDA 27335501
GO:0005886 plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0045121 membrane raft IEA,IDA 27335501
genes like me logo Genes that share ontologies with FYB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FYB2 Gene

Pathways & Interactions for FYB2 Gene

PathCards logo

SuperPathways for FYB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FYB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007229 integrin-mediated signaling pathway IBA 21873635
GO:0033627 cell adhesion mediated by integrin IMP 27335501
GO:0050852 T cell receptor signaling pathway IMP 27335501
GO:0072659 protein localization to plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with FYB2: view

No data available for Pathways by source and SIGNOR curated interactions for FYB2 Gene

Drugs & Compounds for FYB2 Gene

No Compound Related Data Available

Transcripts for FYB2 Gene

mRNA/cDNA for FYB2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for FYB2 Gene

No ASD Table

Relevant External Links for FYB2 Gene

GeneLoc Exon Structure for
FYB2

Expression for FYB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FYB2

mRNA Expression by UniProt/SwissProt for FYB2 Gene:

Q5VWT5-FYB2_HUMAN
Tissue specificity: Expressed in T-cells (at protein level). Widely expressed.

Evidence on tissue expression from TISSUES for FYB2 Gene

  • Nervous system(4.1)

Primer products for research

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for FYB2 Gene

Orthologs for FYB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FYB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1H1orf168 29
  • 98.86 (n)
C1orf168 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C5H1orf168 29
  • 80.49 (n)
C1orf168 30
  • 66 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia 1700024P16Rik 29 30
  • 72.61 (n)
OneToOne
Fyb2 16
Cow
(Bos Taurus)
Mammalia C1orf168 30
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1orf168 30
  • 4 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C1orf168 30
  • 28 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1orf168 30
  • 25 (a)
OneToOne
Species where no ortholog for FYB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FYB2 Gene

ENSEMBL:
Gene Tree for FYB2 (if available)
TreeFam:
Gene Tree for FYB2 (if available)
Alliance of Genome Resources:
Additional Orthologs for FYB2

Paralogs for FYB2 Gene

Paralogs for FYB2 Gene

genes like me logo Genes that share paralogs with FYB2: view

Variants for FYB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FYB2 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs139281548 Not Provided: not provided 56,744,234(-) C/A
NM_001004303.5(FYB2):c.1420G>T (p.Glu474Ter)
NONSENSE
rs17114336 -- p.Ile125Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FYB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FYB2 Gene

Variant ID Type Subtype PubMed ID
esv1167886 CNV deletion 17803354
esv2296236 CNV deletion 18987734
esv2568213 CNV deletion 19546169
esv2663893 CNV deletion 23128226
esv2748674 CNV deletion 23290073
esv2852457 CNV deletion 24192839
esv3306159 CNV mobile element insertion 20981092
esv3345680 CNV insertion 20981092
esv3411748 CNV insertion 20981092
esv3554 CNV loss 18987735
esv3562438 CNV deletion 23714750
esv3586130 CNV loss 21293372
esv7859 CNV loss 19470904
esv988788 CNV deletion 20482838
nsv1076468 CNV deletion 25765185
nsv1122348 CNV deletion 24896259
nsv1149723 CNV deletion 26484159
nsv160326 CNV deletion 16902084
nsv478675 CNV novel sequence insertion 20440878
nsv520726 CNV loss 19592680
nsv523032 CNV gain 19592680

Variation tolerance for FYB2 Gene

Residual Variation Intolerance Score: 71.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.41; 77.15% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FYB2 Gene

Human Gene Mutation Database (HGMD)
FYB2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FYB2
Leiden Open Variation Database (LOVD)
FYB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FYB2 Gene

Disorders for FYB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FYB2 Gene - From: COP

Disorder Aliases PubMed IDs
hypertropia
syringomyelia
- elite association - COSMIC cancer census association via MalaCards
Search FYB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FYB2

genes like me logo Genes that share disorders with FYB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FYB2 Gene

Publications for FYB2 Gene

  1. ARAP, a Novel Adaptor Protein, Is Required for TCR Signaling and Integrin-Mediated Adhesion. (PMID: 27335501) Jung SH … Lee JR (Journal of immunology (Baltimore, Md. : 1950) 2016) 2 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei. (PMID: 30021884) Fasci D … Heck AJR (Molecular & cellular proteomics : MCP 2018) 3
  4. An organelle-specific protein landscape identifies novel diseases and molecular mechanisms. (PMID: 27173435) Boldt K … UK10K Rare Diseases Group (Nature communications 2016) 3
  5. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PMID: 23251661) Comuzzie AG … Butte NF (PloS one 2012) 3

Products for FYB2 Gene

Sources for FYB2 Gene