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Aliases for FAM47E Gene

Aliases for FAM47E Gene

  • Family With Sequence Similarity 47 Member E 2 3 5
  • Family With Sequence Similarity 47, Member E 2
  • Similar To Genethonin 1 2
  • Protein FAM47E 3

External Ids for FAM47E Gene

Previous GeneCards Identifiers for FAM47E Gene

  • GC04P077354
  • GC04P077391
  • GC04P077172
  • GC04P077135
  • GC04P072924

Summaries for FAM47E Gene

GeneCards Summary for FAM47E Gene

FAM47E (Family With Sequence Similarity 47 Member E) is a Protein Coding gene. Diseases associated with FAM47E include Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure. An important paralog of this gene is FAM47E-STBD1.

Additional gene information for FAM47E Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAM47E Gene

Genomics for FAM47E Gene

GeneHancer (GH) Regulatory Elements for FAM47E Gene

Promoters and enhancers for FAM47E Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J076205 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.7 -3.2 -3246 10.3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 SCARB2 GC04P076210 NUP54 FAM47E THAP6 SDAD1 ART3 NAAA G3BP2 STBD1
GH04J076250 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 19.6 +37.7 37707 1.8 FOXA2 ARID4B SIN3A DMAP1 ZNF48 YY1 NFKBIZ RXRA YY2 ZHX2 LOC105377286 FAM47E-STBD1 STBD1 ART3 FAM47E CCDC158 SCARB2
GH04J076233 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 19.5 +21.9 21879 5.5 SMAD1 ATF1 TAF9B NEUROD1 ZBTB40 CHAMP1 TCF12 POLR2B ZNF766 EGR1 SCARB2 SDAD1 FAM47E NUP54 THAP6 ENSG00000251185 STBD1 LOC105377286
GH04J076304 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 11.7 +92.9 92943 4.4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SP3 MXD4 REST STBD1 CCDC158 SCARB2 FAM47E RNU6-1000P NUP54 GC04M076318 GC04M076287 FAM47E-STBD1
GH04J076299 Enhancer 1.4 FANTOM5 Ensembl ENCODE 11.7 +87.5 87467 3.4 PKNOX1 FOXA2 ARNT ZNF2 IRF4 YY1 ZNF766 CBX5 FOS JUNB STBD1 SCARB2 FAM47E CCDC158 FAM47E-STBD1 GC04M076287
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAM47E on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FAM47E gene promoter:
  • ATF-2
  • c-Jun
  • HOXA3
  • AhR

Genomic Locations for FAM47E Gene

Genomic Locations for FAM47E Gene
69,744 bases
Plus strand
59,430 bases
Plus strand

Genomic View for FAM47E Gene

Genes around FAM47E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAM47E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAM47E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAM47E Gene

Proteins for FAM47E Gene

  • Protein details for FAM47E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein FAM47E
    Protein Accession:
    Secondary Accessions:
    • D6R8Y4

    Protein attributes for FAM47E Gene

    393 amino acids
    Molecular mass:
    45662 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for FAM47E Gene


neXtProt entry for FAM47E Gene

Post-translational modifications for FAM47E Gene

No Post-translational modifications

Other Protein References for FAM47E Gene

Antibody Products

  • Boster Bio Antibodies for FAM47E
  • Santa Cruz Biotechnology (SCBT) Antibodies for FAM47E

No data available for DME Specific Peptides for FAM47E Gene

Domains & Families for FAM47E Gene

Gene Families for FAM47E Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAM47E Gene


Suggested Antigen Peptide Sequences for FAM47E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the FAM47 family.
  • Belongs to the FAM47 family.
genes like me logo Genes that share domains with FAM47E: view

Function for FAM47E Gene

Phenotypes From GWAS Catalog for FAM47E Gene

Gene Ontology (GO) - Molecular Function for FAM47E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with FAM47E: view
genes like me logo Genes that share phenotypes with FAM47E: view

Animal Models for FAM47E Gene

MGI Knock Outs for FAM47E:
  • Fam47e Fam47e<tm1a(EUCOMM)Wtsi>

Animal Model Products

miRNA for FAM47E Gene

miRTarBase miRNAs that target FAM47E

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FAM47E Gene

Localization for FAM47E Gene

Subcellular locations from

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 FAM47E gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAM47E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA 25231882
genes like me logo Genes that share ontologies with FAM47E: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for FAM47E Gene

Pathways & Interactions for FAM47E Gene

SuperPathways for FAM47E Gene

No Data Available

Interacting Proteins for FAM47E Gene

Gene Ontology (GO) - Biological Process for FAM47E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with FAM47E: view

No data available for Pathways by source and SIGNOR curated interactions for FAM47E Gene

Drugs & Compounds for FAM47E Gene

No Compound Related Data Available

Transcripts for FAM47E Gene

mRNA/cDNA for FAM47E Gene

(2) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FAM47E Gene

Family with sequence similarity 47, member E:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for FAM47E Gene

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

Relevant External Links for FAM47E Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for FAM47E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FAM47E Gene

Protein differential expression in normal tissues from HIPED for FAM47E Gene

This gene is overexpressed in Esophagus (67.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FAM47E Gene

Protein tissue co-expression partners for FAM47E Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FAM47E Gene:


SOURCE GeneReport for Unigene cluster for FAM47E Gene:


Evidence on tissue expression from TISSUES for FAM47E Gene

  • Nervous system(4.8)
genes like me logo Genes that share expression patterns with FAM47E: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FAM47E Gene

Orthologs for FAM47E Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAM47E Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia FAM47E 33
  • 98.81 (n)
-- 34
  • 97 (a)
(Bos Taurus)
Mammalia FAM47E 33
  • 80.26 (n)
-- 34
  • 53 (a)
(Canis familiaris)
Mammalia FAM47E 33
  • 77.41 (n)
-- 34
  • 63 (a)
(Rattus norvegicus)
Mammalia Fam47e 33
  • 68.58 (n)
(Mus musculus)
Mammalia Fam47e 16 34 33
  • 67.34 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 35 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 32 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
-- 34
  • 27 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127812 33
  • 49.85 (n)
(Danio rerio)
Actinopterygii LOC100536753 33
  • 45.38 (n)
zgc:158260 34 34
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4199 34
  • 22 (a)
Species where no ortholog for FAM47E 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 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 FAM47E Gene

Gene Tree for FAM47E (if available)
Gene Tree for FAM47E (if available)
Evolutionary constrained regions (ECRs) for FAM47E: view image

Paralogs for FAM47E Gene

Paralogs for FAM47E Gene

(1) SIMAP similar genes for FAM47E Gene using alignment to 5 proteins:

  • D6RA91_HUMAN
  • F6W5V1_HUMAN
genes like me logo Genes that share paralogs with FAM47E: view

Variants for FAM47E Gene

Sequence variations from dbSNP and Humsavar for FAM47E Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs368906199 uncertain-significance, not specified, Progressive myoclonic epilepsy 76,213,464(+) C/T upstream_transcript_variant
rs72857097 benign, not specified, Progressive myoclonic epilepsy 76,213,496(+) C/A/G upstream_transcript_variant
rs886041072 pathogenic, Epilepsy, progressive myoclonic 4, with or without renal failure 76,213,433(+) G/ upstream_transcript_variant
rs1057522858 likely-benign, not specified 76,213,591(+) C/T upstream_transcript_variant
rs200947751 likely-benign, not specified 76,213,554(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FAM47E Gene

Variant ID Type Subtype PubMed ID
esv2421530 CNV deletion 20811451
esv2661271 CNV deletion 23128226
esv2760851 CNV loss 21179565
esv3601049 CNV loss 21293372
esv3601050 CNV loss 21293372
nsv461559 CNV loss 19166990
nsv516357 CNV loss 19592680
nsv594695 CNV loss 21841781
nsv7363 OTHER inversion 18451855

Variation tolerance for FAM47E Gene

Gene Damage Index Score: 1.13; 22.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FAM47E Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAM47E Gene

Disorders for FAM47E Gene

MalaCards: The human disease database

(1) MalaCards diseases for FAM47E Gene - From: HGMD and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FAM47E

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with FAM47E: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FAM47E Gene

Publications for FAM47E Gene

  1. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. (PMID: 21738487) Do CB … Eriksson N (PLoS genetics 2011) 3 44 58
  2. 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
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 44 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD. (PMID: 25231882) Ledo N … Susztak K (Journal of the American Society of Nephrology : JASN 2015) 3 58

Products for FAM47E Gene

Sources for FAM47E Gene

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