Aliases for FAM83E Gene

Aliases for FAM83E Gene

  • Family With Sequence Similarity 83 Member E 2 3 5
  • Protein FAM83E 3 4
  • Family With Sequence Similarity 83, Member E 2
  • FLJ20200 2
  • FAM83E 5

External Ids for FAM83E Gene

Previous GeneCards Identifiers for FAM83E Gene

  • GC19M053796
  • GC19M049103
  • GC19M045482

Summaries for FAM83E Gene

GeneCards Summary for FAM83E Gene

FAM83E (Family With Sequence Similarity 83 Member E) is a Protein Coding gene. Diseases associated with FAM83E include Amelogenesis Imperfecta, Type Iiia. An important paralog of this gene is FAM83G.

UniProtKB/Swiss-Prot Summary for FAM83E Gene

Additional gene information for FAM83E Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAM83E Gene

Genomics for FAM83E Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAM83E 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 FAM83E on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAM83E

Top Transcription factor binding sites by QIAGEN in the FAM83E gene promoter:
  • CBF(2)
  • CREB
  • deltaCREB
  • Egr-1
  • NF-Y
  • p53
  • USF1

Genomic Locations for FAM83E Gene

Genomic Locations for FAM83E Gene
chr19:48,600,600-48,615,239
(GRCh38/hg38)
Size:
14,640 bases
Orientation:
Minus strand
chr19:49,103,857-49,118,111
(GRCh37/hg19)
Size:
14,255 bases
Orientation:
Minus strand

Genomic View for FAM83E Gene

Genes around FAM83E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM83E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM83E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM83E Gene

Proteins for FAM83E Gene

  • Protein details for FAM83E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q2M2I3-FA83E_HUMAN
    Recommended name:
    Protein FAM83E
    Protein Accession:
    Q2M2I3
    Secondary Accessions:
    • Q9NXK1

    Protein attributes for FAM83E Gene

    Size:
    478 amino acids
    Molecular mass:
    51780 Da
    Quaternary structure:
    • May interact with RAF1.

neXtProt entry for FAM83E Gene

Post-translational modifications for FAM83E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM83E Gene

No data available for DME Specific Peptides for FAM83E Gene

Domains & Families for FAM83E Gene

Gene Families for FAM83E Gene

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

Protein Domains for FAM83E Gene

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

Suggested Antigen Peptide Sequences for FAM83E Gene

GenScript: Design optimal peptide antigens:
  • Protein FAM83E (FA83E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q2M2I3

UniProtKB/Swiss-Prot:

FA83E_HUMAN :
  • Belongs to the FAM83 family.
Family:
  • Belongs to the FAM83 family.
genes like me logo Genes that share domains with FAM83E: view

Function for FAM83E Gene

Molecular function for FAM83E Gene

UniProtKB/Swiss-Prot Function:
May play a role in MAPK signaling.

Phenotypes From GWAS Catalog for FAM83E Gene

Gene Ontology (GO) - Molecular Function for FAM83E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 24736947
genes like me logo Genes that share ontologies with FAM83E: view
genes like me logo Genes that share phenotypes with FAM83E: view

Animal Model Products

CRISPR Products

miRNA for FAM83E Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAM83E

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAM83E Gene

Localization for FAM83E Gene

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 FAM83E gene
Compartment Confidence
nucleus 2
plasma membrane 1
cytoskeleton 1
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot , Subcellular locations from the Human Protein Atlas (HPA) and Gene Ontology (GO) - Cellular Components for FAM83E Gene

Pathways & Interactions for FAM83E Gene

PathCards logo

SuperPathways for FAM83E Gene

No Data Available

Interacting Proteins for FAM83E Gene

Gene Ontology (GO) - Biological Process for FAM83E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IBA 21873635
genes like me logo Genes that share ontologies with FAM83E: view

No data available for Pathways by source and SIGNOR curated interactions for FAM83E Gene

Drugs & Compounds for FAM83E Gene

No Compound Related Data Available

Transcripts for FAM83E Gene

mRNA/cDNA for FAM83E Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 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 FAM83E

Alternative Splicing Database (ASD) splice patterns (SP) for FAM83E Gene

No ASD Table

Relevant External Links for FAM83E Gene

GeneLoc Exon Structure for
FAM83E

Expression for FAM83E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FAM83E Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FAM83E Gene

This gene is overexpressed in Colon - Transverse (x16.3), Small Intestine - Terminal Ileum (x7.1), Minor Salivary Gland (x6.6), and Stomach (x5.8).

Protein differential expression in normal tissues from HIPED for FAM83E Gene

This gene is overexpressed in Breast (52.9) and Ovary (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM83E Gene



Protein tissue co-expression partners for FAM83E Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAM83E

SOURCE GeneReport for Unigene cluster for FAM83E Gene:

Hs.165803

Evidence on tissue expression from TISSUES for FAM83E Gene

  • Intestine(4.1)
genes like me logo Genes that share expression patterns with FAM83E: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM83E Gene

Orthologs for FAM83E Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM83E Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FAM83E 30 31
  • 99.3 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia FAM83E 30 31
  • 83.44 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FAM83E 30 31
  • 82.7 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fam83e 30 17 31
  • 76.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fam83e 30
  • 75.34 (n)
Oppossum
(Monodelphis domestica)
Mammalia FAM83E 31
  • 60 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia FAM83E 31
  • 57 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FAM83E 31
  • 49 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia fam83e 30
  • 55.59 (n)
Zebrafish
(Danio rerio)
Actinopterygii CR762484.3 31
  • 22 (a)
OneToOne
Species where no ortholog for FAM83E 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)
  • Chicken (Gallus gallus)
  • 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 FAM83E Gene

ENSEMBL:
Gene Tree for FAM83E (if available)
TreeFam:
Gene Tree for FAM83E (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FAM83E: view image

Paralogs for FAM83E Gene

Paralogs for FAM83E Gene

(3) SIMAP similar genes for FAM83E Gene using alignment to 2 proteins:

  • FA83E_HUMAN
  • M0QZ37_HUMAN
genes like me logo Genes that share paralogs with FAM83E: view

Variants for FAM83E Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAM83E Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs3745727 - p.Arg372His
rs3745728 - p.Pro311Leu
rs447802 - p.Thr91Ala

Additional dbSNP identifiers (rs#s) for FAM83E Gene

Structural Variations from Database of Genomic Variants (DGV) for FAM83E Gene

Variant ID Type Subtype PubMed ID
dgv3617n100 CNV gain 25217958
dgv666e214 CNV loss 21293372
esv3644594 CNV gain 21293372
nsv1057580 CNV gain 25217958
nsv138413 CNV deletion 16902084
nsv9739 CNV gain+loss 18304495

Variation tolerance for FAM83E Gene

Residual Variation Intolerance Score: 93.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.80; 79.10% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM83E Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM83E

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM83E Gene

Disorders for FAM83E Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM83E Gene - From: DISEASES

Disorder Aliases PubMed IDs
amelogenesis imperfecta, type iiia
  • ai3a
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM83E

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FAM83E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM83E Gene

Publications for FAM83E Gene

  1. 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
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. (PMID: 24941225) Liang Y … Peng T (PloS one 2014) 3
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3
  5. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) Psychiatric GWAS Consortium Bipolar Disorder Working Group (Nature genetics 2011) 3

Products for FAM83E Gene

Sources for FAM83E Gene