Free for academic non-profit institutions. Other users need a Commercial license

Aliases for FAM83B Gene

Aliases for FAM83B Gene

  • Family With Sequence Similarity 83 Member B 2 3 5
  • C6orf143 3 4
  • Family With Sequence Similarity 83, Member B 2
  • Chromosome 6 Open Reading Frame 143 2
  • Protein FAM83B 3

External Ids for FAM83B Gene

Previous HGNC Symbols for FAM83B Gene

  • C6orf143

Previous GeneCards Identifiers for FAM83B Gene

  • GC06P054820
  • GC06P054711
  • GC06P054545

Summaries for FAM83B Gene

GeneCards Summary for FAM83B Gene

FAM83B (Family With Sequence Similarity 83 Member B) is a Protein Coding gene. Diseases associated with FAM83B include Lung Squamous Cell Carcinoma. An important paralog of this gene is FAM83H.

UniProtKB/Swiss-Prot for FAM83B Gene

  • Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades.

Additional gene information for FAM83B Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83B Gene

Genomics for FAM83B Gene

GeneHancer (GH) Regulatory Elements for FAM83B Gene

Promoters and enhancers for FAM83B 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
GH06I054845 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 550.8 +1.3 1275 4.8 SIN3A GLIS2 FOS SP3 REST ZNF518A MAFF SMARCA4 GLIS1 WT1 GC06P054848 FAM83B ENSG00000224984 ENSG00000261116
GH06I054877 Enhancer 1.2 ENCODE dbSUPER 11.5 +32.2 32222 2.2 PKNOX1 ARNT FEZF1 GLI4 ZNF2 IRF4 GLIS2 ZNF213 ZNF302 KLF7 ENSG00000224984 FAM83B TINAG GC06P054848 ENSG00000261116
GH06I054873 Enhancer 0.9 ENCODE dbSUPER 11.6 +28.0 28005 3.2 NCOA3 PKNOX1 CLOCK CEBPG ZBTB40 MTA3 CTBP1 GATA3 ZNF366 FOSL2 ENSG00000224984 FAM83B RNU6-1023P GC06P054848 ENSG00000261116
GH06I054891 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.2 +46.0 45961 2.7 MAFF JUND USF1 BACH1 NFE2 FOS NFE2L2 ENSG00000224984 FAM83B ENSG00000261116 GC06P054848
GH06I053926 Enhancer 1 Ensembl ENCODE 5.4 -918.1 -918111 4.2 PKNOX1 NFIB MZF1 SIN3A ZBTB7B ZBTB40 ZNF366 E2F8 FOS RCOR1 LOC101927189 MLIP MLIP-IT1 FAM83B ENSG00000271218
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FAM83B on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM83B gene promoter:

Genomic Locations for FAM83B Gene

Genomic Locations for FAM83B Gene
chr6:54,846,643-54,945,099
(GRCh38/hg38)
Size:
98,457 bases
Orientation:
Plus strand
chr6:54,711,569-54,806,820
(GRCh37/hg19)

Genomic View for FAM83B Gene

Genes around FAM83B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83B Gene

Proteins for FAM83B Gene

  • Protein details for FAM83B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0W9-FA83B_HUMAN
    Recommended name:
    Protein FAM83B
    Protein Accession:
    Q5T0W9
    Secondary Accessions:
    • Q2M1P3
    • Q96DQ2

    Protein attributes for FAM83B Gene

    Size:
    1011 amino acids
    Molecular mass:
    114799 Da
    Quaternary structure:
    • Interacts with EGFR; the interaction is disrupted by EGF stimulation (PubMed:23912460). Interacts with RAF1; displaces 14-3-3 proteins from RAF1 and activates RAF1 within the RAS/MAPK signaling cascade (PubMed:22886302). Interacts with AKT1, PIK3CA and PIK3R1; activates the PI3K/AKT signaling cascade (PubMed:23676467).

    Three dimensional structures from OCA and Proteopedia for FAM83B Gene

neXtProt entry for FAM83B Gene

Post-translational modifications for FAM83B Gene

No Post-translational modifications

Other Protein References for FAM83B Gene

No data available for DME Specific Peptides for FAM83B Gene

Domains & Families for FAM83B Gene

Gene Families for FAM83B Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM83B Gene

Suggested Antigen Peptide Sequences for FAM83B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5T0W9

UniProtKB/Swiss-Prot:

FA83B_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83B: view

Function for FAM83B Gene

Molecular function for FAM83B Gene

UniProtKB/Swiss-Prot Function:
Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. May activate both the EGFR itself and downstream RAS/MAPK and PI3K/AKT/TOR signaling cascades.

Phenotypes From GWAS Catalog for FAM83B Gene

Gene Ontology (GO) - Molecular Function for FAM83B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004630 NOT phospholipase D activity IDA 22886302
GO:0005154 epidermal growth factor receptor binding IPI 23912460
GO:0019901 protein kinase binding IPI 22886302
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding IPI 23676467
GO:0036313 phosphatidylinositol 3-kinase catalytic subunit binding IPI 23676467
genes like me logo Genes that share ontologies with FAM83B: view
genes like me logo Genes that share phenotypes with FAM83B: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83B Gene

Localization for FAM83B Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM83B Gene

Cytoplasm. Membrane.

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 FAM83B gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for FAM83B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 22886302
GO:0016020 membrane IDA,IEA 22886302
genes like me logo Genes that share ontologies with FAM83B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FAM83B Gene

Pathways & Interactions for FAM83B Gene

SuperPathways for FAM83B Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM83B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007173 epidermal growth factor receptor signaling pathway IMP 22886302
GO:0008283 cell proliferation IMP 23912460
genes like me logo Genes that share ontologies with FAM83B: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83B Gene

Drugs & Compounds for FAM83B Gene

No Compound Related Data Available

Transcripts for FAM83B Gene

mRNA/cDNA for FAM83B Gene

(5) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM83B Gene

Family with sequence similarity 83, member B:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83B Gene

No ASD Table

Relevant External Links for FAM83B Gene

GeneLoc Exon Structure for
FAM83B
ECgene alternative splicing isoforms for
FAM83B

Expression for FAM83B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM83B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83B Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x11.6), Skin - Sun Exposed (Lower leg) (x10.6), Esophagus - Mucosa (x8.5), and Vagina (x4.8).

Protein differential expression in normal tissues from HIPED for FAM83B Gene

This gene is overexpressed in Placenta (54.0) and Islet of Langerhans (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FAM83B Gene



Protein tissue co-expression partners for FAM83B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM83B Gene:

FAM83B

SOURCE GeneReport for Unigene cluster for FAM83B Gene:

Hs.152423

Evidence on tissue expression from TISSUES for FAM83B Gene

  • Heart(4.1)
  • Lung(4.1)
genes like me logo Genes that share expression patterns with FAM83B: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83B Gene

Orthologs for FAM83B Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FAM83B 33 34
  • 99.44 (n)
dog
(Canis familiaris)
Mammalia FAM83B 33 34
  • 89.44 (n)
cow
(Bos Taurus)
Mammalia FAM83B 33 34
  • 85.05 (n)
mouse
(Mus musculus)
Mammalia Fam83b 33 16 34
  • 82.2 (n)
rat
(Rattus norvegicus)
Mammalia Fam83b 33
  • 81.89 (n)
oppossum
(Monodelphis domestica)
Mammalia FAM83B 34
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FAM83B 34
  • 75 (a)
OneToOne
chicken
(Gallus gallus)
Aves FAM83B 33 34
  • 70.76 (n)
lizard
(Anolis carolinensis)
Reptilia FAM83B 34
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fam83b 33
  • 62.13 (n)
zebrafish
(Danio rerio)
Actinopterygii fam83b 33 34
  • 51.1 (n)
Species where no ortholog for FAM83B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAM83B Gene

ENSEMBL:
Gene Tree for FAM83B (if available)
TreeFam:
Gene Tree for FAM83B (if available)

Paralogs for FAM83B Gene

Paralogs for FAM83B Gene

genes like me logo Genes that share paralogs with FAM83B: view

Variants for FAM83B Gene

Sequence variations from dbSNP and Humsavar for FAM83B Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000002498 -- 54,928,542(+) CTCTCTCT/CTCTCT intron_variant
rs1000012911 -- 54,866,445(+) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000054973 -- 54,854,990(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000075802 -- 54,889,413(+) A/G/T intron_variant
rs1000084997 -- 54,942,077(+) A/G 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM83B Gene

Variant ID Type Subtype PubMed ID
nsv5308 CNV insertion 18451855
nsv1161381 CNV duplication 26073780
nsv1137080 CNV deletion 24896259
nsv1124064 CNV deletion 24896259
esv3609057 CNV gain 21293372
esv3539759 CNV deletion 23714750
esv3539757 CNV deletion 23714750
esv3429009 CNV insertion 20981092
esv3346577 CNV duplication 20981092
esv3343164 CNV insertion 20981092
esv3307113 CNV mobile element insertion 20981092
esv3305142 CNV mobile element insertion 20981092
esv2763553 CNV gain 21179565
esv2732104 CNV deletion 23290073
esv2732103 CNV deletion 23290073
esv2732102 CNV deletion 23290073
esv2678553 CNV deletion 23128226
esv2675172 CNV deletion 23128226

Variation tolerance for FAM83B Gene

Residual Variation Intolerance Score: 12.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.35; 90.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83B Gene

Disorders for FAM83B Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM83B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lung squamous cell carcinoma
  • epidermoid cell carcinoma of the lung
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM83B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM83B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83B Gene

Publications for FAM83B Gene

  1. FAM83B mediates EGFR- and RAS-driven oncogenic transformation. (PMID: 22886302) Cipriano R … Jackson MW (The Journal of clinical investigation 2012) 2 3 4 58
  2. Hyperactivation of EGFR and downstream effector phospholipase D1 by oncogenic FAM83B. (PMID: 23912460) Cipriano R … Jackson MW (Oncogene 2014) 3 4 58
  3. FAM83B-mediated activation of PI3K/AKT and MAPK signaling cooperates to promote epithelial cell transformation and resistance to targeted therapies. (PMID: 23676467) Cipriano R … Jackson MW (Oncotarget 2013) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58

Products for FAM83B Gene

Sources for FAM83B Gene

Content
Loading form....