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FAM83E Gene(Protein Coding)

Family With Sequence Similarity 83 Member E

GCID:
GC19M048600
GIFtS:
45
Genes Participants
UDN Logo

Aliases for FAM83E Gene

Aliases for FAM83E Gene

  • Family With Sequence Similarity 83 Member E 2 3 5
  • Family With Sequence Similarity 83, Member E 2

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. An important paralog of this gene is FAM83G.

UniProtKB/Swiss-Prot for FAM83E Gene

  • May play a role in MAPK signaling.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM83E Gene

Genomics for FAM83E Gene

Products:

  1. Regulatory Element

Regulatory Elements for FAM83E Gene

Enhancers for FAM83E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G048632 1.7 Ensembl ENCODE dbSUPER 18.2 -21.6 -21623 7.8 MLX CREB3L1 AGO1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC PRR12 ENSG00000268093 GRWD1 RPS11 SNORD35A PIH1D1 RPL18 NOP53-AS1 SNORD35B ALDH16A1
GH19G048622 1.4 ENCODE dbSUPER 6.1 -9.6 -9569 4.0 HDGF PKNOX1 CREB3L1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 SEC1P FAM83E PRRG2 ENSG00000268093 DBP
GH19G048644 1.2 ENCODE 6 -31.1 -31077 2.9 CREB3L1 AGO1 DMAP1 FEZF1 YY1 ZNF143 ZNF263 SP3 MCM3 TBX21 PRR12 SEC1P GRWD1 RPS11 SNORD35A PIH1D1 RPL18 NOP53-AS1 EHD2 KDELR1
GH19G048608 1.1 Ensembl ENCODE 6 +5.9 5861 0.7 HDGF PKNOX1 RB1 ZNF76 SIN3A RAD21 RFX5 EGR1 ZNF143 IKZF2 SEC1P SPACA4 FAM83E
GH19G048621 0.7 Ensembl 6.1 -6.9 -6947 0.4 ELF3 KLF1 TFAP4 NFIB ARID4B DMAP1 TEAD3 SLC30A9 CTBP1 POLR2A FAM83E ENSG00000268093 RPL18
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM83E on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FAM83E gene promoter:

Genomic Location for FAM83E Gene

Chromosome:
19
Start:
48,600,600 bp from pter
End:
48,614,854 bp from pter
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 Structure • Gene Density

RefSeq DNA sequence for FAM83E Gene

Proteins for FAM83E Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for FAM83E Gene

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

Post-translational modifications for FAM83E Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAM83E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FAM83E Gene

Domains & Families for FAM83E Gene

Protein Domains for FAM83E Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM83E Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for FAM83E Gene

Function for FAM83E Gene

Products:

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

Molecular function for FAM83E Gene

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

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

Phenotypes for FAM83E Gene

GenomeRNAi human phenotypes for FAM83E:
genes like me logo Genes that share phenotypes with FAM83E: view

Animal Model Products

CRISPR Products

miRNA for FAM83E Gene

miRTarBase miRNAs that target FAM83E

Inhibitory RNA Products

Flow Cytometry Products

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 3
cytosol 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for FAM83E Gene

Pathways & Interactions for FAM83E Gene

SuperPathways for FAM83E Gene

PathCards logo More details on SuperPathways for FAM83E
No Data Available

Interacting Proteins for FAM83E Gene

Selected Interacting proteins: Q2M2I3-FA83E_HUMAN for FAM83E Gene via IID

Gene Ontology (GO) - Biological Process for FAM83E Gene

None

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

Drugs & Compounds for FAM83E Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for FAM83E Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for FAM83E Gene

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

Unigene Clusters for FAM83E Gene

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

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for FAM83E Gene

GeneLoc Exon Structure for
FAM83E
ECgene alternative splicing isoforms for
FAM83E

Expression for FAM83E Gene

Products:

  1. Primer

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

mRNA expression in normal human tissues for FAM83E Gene
mRNA expression by BioGPS for FAM83E GenemRNA expression by GTEx 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

NURSA nuclear receptor signaling pathways regulating expression of FAM83E Gene:

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

Primer Products

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 34 35
  • 99.3 (n)
cow
(Bos Taurus)
 Mammalia FAM83E 34 35
  • 83.44 (n)
dog
(Canis familiaris)
 Mammalia FAM83E 34 35
  • 82.7 (n)
mouse
(Mus musculus)
 Mammalia Fam83e 34 16 35
  • 76.06 (n)
rat
(Rattus norvegicus)
 Mammalia Fam83e 34
  • 75.34 (n)
oppossum
(Monodelphis domestica)
 Mammalia FAM83E 35
  • 60 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FAM83E 35
  • 57 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FAM83E 35
  • 49 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fam83e 34
  • 55.59 (n)
zebrafish
(Danio rerio)
 Actinopterygii CR762484.3 35
  • 22 (a)
 OneToOne
Species where no ortholog for FAM83E 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)
  • 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 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 FAM83E Gene

ENSEMBL:
Gene Tree for FAM83E (if available)
TreeFam:
Gene Tree for FAM83E (if available)

Paralogs for FAM83E Gene

Paralogs for FAM83E Gene

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

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

Variants for FAM83E Gene

Sequence variations from dbSNP and Humsavar for FAM83E Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs1000240438 -- 48,611,143(+) TTTTT(G/T)TGTTT intron-variant
rs1000291716 -- 48,600,305(+) TGACA(C/T)TGAGG downstream-variant-500B
rs1000583118 -- 48,609,864(+) CGGGG(C/T)GGGGG intron-variant
rs1000942849 -- 48,614,096(+) TCTCC(A/C)CTGGG upstream-variant-2KB, utr-variant-5-prime
rs1001027567 -- 48,601,874(+) CGGAC(A/G)CGGTG intron-variant

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)

Relevant External Links 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

Relevant External Links for FAM83E

Genetic Association Database (GAD)
FAM83E
Human Genome Epidemiology (HuGE) Navigator
FAM83E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM83E

No disorders were found for FAM83E Gene.

No data available for MalaCards , 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 M.W. (Mol. Cancer Res. 2014) 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  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 64
  4. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PMID: 21926972) (Nat. Genet. 2011) 3 64
  5. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. (PMID: 19913121) Talmud P.J. … . (Am. J. Hum. Genet. 2009) 3 64

Products for FAM83E Gene

Sources for FAM83E Gene

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