FAM83A Gene (Protein Coding)

Family With Sequence Similarity 83 Member A

GC08P123178
GIFtS:
34
See more...

Aliases for FAM83A Gene

Aliases for FAM83A Gene

  • Family With Sequence Similarity 83 Member A 2 3 5
  • Tumor-Specific Gene Expressed In Prostate Protein 3 4
  • Tumor Antigen BJ-TSA-9 3 4
  • Protein FAM83A 3 4
  • BJ-TSA-9 2 3
  • Family With Sequence Similarity 83, Member A 2
  • MGC14128 2
  • FAM83A 5
  • TSGP 4

External Ids for FAM83A Gene

Previous GeneCards Identifiers for FAM83A Gene

  • GC08P124261
  • GC08P124194
  • GC08P119520

Summaries for FAM83A Gene

GeneCards Summary for FAM83A Gene

FAM83A (Family With Sequence Similarity 83 Member A) is a Protein Coding gene. Diseases associated with FAM83A include Amelogenesis Imperfecta, Type Iiia and Trichorhinophalangeal Syndrome, Type Ii. An important paralog of this gene is FAM83C.

UniProtKB/Swiss-Prot Summary for FAM83A Gene

  • Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation.

Additional gene information for FAM83A Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83A Gene

Genomics for FAM83A Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FAM83A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM83A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM83A

Top Transcription factor binding sites by QIAGEN in the FAM83A gene promoter:
  • CUTL1
  • GATA-1
  • Hlf
  • POU3F2
  • RP58
  • Spz1
  • YY1
  • ZID

Genomic Locations for FAM83A Gene

Genomic Locations for FAM83A Gene
chr8:123,178,960-123,210,079
(GRCh38/hg38)
Size:
31,120 bases
Orientation:
Plus strand
chr8:124,191,200-124,222,318
(GRCh37/hg19)
Size:
31,119 bases
Orientation:
Plus strand

Genomic View for FAM83A Gene

Genes around FAM83A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83A Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FAM83A Gene

Proteins for FAM83A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FAM83A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86UY5-FA83A_HUMAN
    Recommended name:
    Protein FAM83A
    Protein Accession:
    Q86UY5
    Secondary Accessions:
    • Q71HL2
    • Q8N7I1
    • Q96I47

    Protein attributes for FAM83A Gene

    Size:
    434 amino acids
    Molecular mass:
    47458 Da
    Quaternary structure:
    • Interacts with the regulatory subunit p85 of PI3-kinase; increased by EGFR activation (PubMed:22886303). Interacts with RAF1; increased by EGFR activation it activates RAF1 (PubMed:22886303, PubMed:24736947).
    SequenceCaution:
    • Sequence=BAC05299.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FAM83A Gene

    Alternative splice isoforms for FAM83A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM83A Gene

Protein Expression for FAM83A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FAM83A Gene

Other Protein References for FAM83A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83A Gene

Domains & Families for FAM83A Gene

Gene Families for FAM83A Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM83A Gene

InterPro:
Blocks:
  • Protein of unknown function DUF1669
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83A Gene

GenScript: Design optimal peptide antigens:
  • Tumor-specific gene expressed in prostate protein (FA83A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86UY5

UniProtKB/Swiss-Prot:

FA83A_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83A: view

Function for FAM83A Gene

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  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FAM83A Gene

UniProtKB/Swiss-Prot Function:
Probable proto-oncogene that functions in the epidermal growth factor receptor/EGFR signaling pathway. Activates both RAS/MAPK and PI3K/AKT/TOR signaling cascades downstream of EGFR. Required for the RAS/MAPK signaling cascade activation upon EGFR stimulation, it also activates both signaling cascades independently of EGFR activation.

Phenotypes From GWAS Catalog for FAM83A Gene

Gene Ontology (GO) - Molecular Function for FAM83A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0019901 protein kinase binding IPI 22886303
GO:0036312 phosphatidylinositol 3-kinase regulatory subunit binding IDA 22886303
genes like me logo Genes that share ontologies with FAM83A: view
genes like me logo Genes that share phenotypes with FAM83A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM83A

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83A Gene

Localization for FAM83A Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAM83A Gene

Cytoplasm.

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 FAM83A gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM83A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with FAM83A: view

Pathways & Interactions for FAM83A Gene

PathCards logo

SuperPathways for FAM83A Gene

No Data Available

Gene Ontology (GO) - Biological Process for FAM83A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
GO:0007173 epidermal growth factor receptor signaling pathway IDA 22886303
GO:0008283 cell proliferation IMP 22886303
genes like me logo Genes that share ontologies with FAM83A: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83A Gene

Drugs & Compounds for FAM83A Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAM83A Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FAM83A Gene

4 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM83A

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: -
SP2: -
SP3: - -
SP4: - -
SP5:

Relevant External Links for FAM83A Gene

GeneLoc Exon Structure for
FAM83A

Expression for FAM83A Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM83A Gene

mRNA expression in normal human tissues for FAM83A Gene
mRNA expression by GTEx for FAM83A GenemRNA expression by BioGPS for FAM83A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83A Gene

This gene is overexpressed in Esophagus - Mucosa (x27.4), Vagina (x10.4), and Cervix - Ectocervix (x4.6).

Protein differential expression in normal tissues from HIPED for FAM83A Gene

This gene is overexpressed in Cervix (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FAM83A Gene



Protein tissue co-expression partners for FAM83A Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM83A

SOURCE GeneReport for Unigene cluster for FAM83A Gene:

Hs.379821

Evidence on tissue expression from TISSUES for FAM83A Gene

  • Lung(4.5)
  • Pancreas(4.2)
  • Thyroid gland(4.2)
genes like me logo Genes that share expression patterns with FAM83A: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83A Gene

Orthologs for FAM83A Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FAM83A 30 31
  • 99.54 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FAM83A 30 31
  • 85.84 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FAM83A 30 31
  • 85.53 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fam83a 30
  • 82.06 (n)
Mouse
(Mus musculus)
 Mammalia Fam83a 30 17 31
  • 81.68 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FAM83A 31
  • 67 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FAM83A 31
  • 58 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FAM83A 30 31
  • 62.63 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia FAM83A 31
  • 57 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fam83a 30
  • 57.82 (n)
Str.11910 30
African clawed frog
(Xenopus laevis)
 Amphibia MGC68960 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC799983 30
  • 56.87 (n)
FAM83A 31
  • 39 (a)
 OneToOne
Species where no ortholog for FAM83A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for FAM83A Gene

ENSEMBL:
Gene Tree for FAM83A (if available)
TreeFam:
Gene Tree for FAM83A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM83A: view image

Paralogs for FAM83A Gene

Paralogs for FAM83A Gene

genes like me logo Genes that share paralogs with FAM83A: view

Variants for FAM83A Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM83A Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs7813708 - p.Ala237Thr

Additional dbSNP identifiers (rs#s) for FAM83A Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM83A Gene

Variant ID Type Subtype PubMed ID
esv3412283 CNV duplication 20981092
esv3618663 CNV loss 21293372
nsv1032827 CNV gain 25217958

Variation tolerance for FAM83A Gene

Residual Variation Intolerance Score: 93.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.62; 78.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83A Gene

Disorders for FAM83A Gene

MalaCards: The human disease database

(2) MalaCards diseases for FAM83A Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM83A

ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM83A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83A Gene

Publications for FAM83A Gene

  1. FAM83A confers EGFR-TKI resistance in breast cancer cells and in mice. (PMID: 22886303) Lee SY … Bissell MJ (The Journal of clinical investigation 2012) 2 3 4
  2. Conserved oncogenic behavior of the FAM83 family regulates MAPK signaling in human cancer. (PMID: 24736947) Cipriano R … Jackson MW (Molecular cancer research : MCR 2014) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. FAM83A Is a Prognosis Signature and Potential Oncogene of Lung Adenocarcinoma. (PMID: 32282228) Yu J … Pei T (DNA and cell biology 2020) 3

ExternalLinks

View latest publications for FAM83A gene in Mastermind

Products for FAM83A Gene

Sources for FAM83A Gene