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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

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. 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

Regulatory Elements for FAM47E Gene

Enhancers for FAM47E 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
GH04H076205 1.7 FANTOM5 ENCODE dbSUPER 19.7 -3.2 -3246 10 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 NUP54 FAM47E THAP6 SDAD1 ART3 NAAA SCARB2 G3BP2 STBD1 CXCL10
GH04H076233 1.4 Ensembl ENCODE dbSUPER 19.5 +21.9 21879 5 ATF1 ZBTB40 CHAMP1 TCF12 ZNF766 ELK1 EGR1 FOS RCOR1 CREM FAM47E NUP54 SCARB2 THAP6 SDAD1 ENSG00000251185 STBD1 LOC105377286
GH04H076250 1.3 FANTOM5 ENCODE 19.6 +37.7 37707 1 FOXA2 ARID4B SIN3A DMAP1 YY1 ZNF143 YY2 ZHX2 MXD4 REST ART3 FAM47E CCDC158 SCARB2 FAM47E-STBD1 STBD1
GH04H076299 1.6 FANTOM5 Ensembl ENCODE 11.7 +87.5 87468 3 PKNOX1 FOXA2 ARNT ZNF2 YY1 ZNF766 CBX5 FOS JUNB REST STBD1 SCARB2 FAM47E CCDC158 FAM47E-STBD1
GH04H076304 1.3 Ensembl ENCODE 11.7 +92.9 92943 4 FOXA2 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ETS1 GLIS2 KLF7 CCDC158 STBD1 SCARB2 FAM47E RNU6-1000P NUP54 GC04M076318
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around FAM47E on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the FAM47E gene promoter:

Genomic Location for FAM47E Gene

Chromosome:
4
Start:
76,214,040 bp from pter
End:
76,283,783 bp from pter
Size:
69,744 bases
Orientation:
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:
    Q6ZV65-FA47E_HUMAN
    Recommended name:
    Protein FAM47E
    Protein Accession:
    Q6ZV65
    Secondary Accessions:
    • D6R8Y4

    Protein attributes for FAM47E Gene

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

    Alternative splice isoforms for FAM47E Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FAM47E Gene

Post-translational modifications for FAM47E Gene

No Post-translational modifications

Other Protein References for FAM47E Gene

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

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAM47E Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZV65

UniProtKB/Swiss-Prot:

FA47E_HUMAN :
  • Belongs to the FAM47 family.
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:

Animal Model Products

CRISPR Products

miRNA for FAM47E Gene

miRTarBase miRNAs that target FAM47E

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM47E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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 FAM47E gene
Compartment Confidence
nucleus 3
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for FAM47E
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

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

Relevant External Links for FAM47E Gene

GeneLoc Exon Structure for
FAM47E
ECgene alternative splicing isoforms for
FAM47E

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:

FAM47E

SOURCE GeneReport for Unigene cluster for FAM47E Gene:

Hs.720509

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia FAM47E 33
  • 98.81 (n)
-- 34
  • 97 (a)
OneToMany
cow
(Bos Taurus)
Mammalia FAM47E 33
  • 80.26 (n)
-- 34
  • 53 (a)
OneToMany
dog
(Canis familiaris)
Mammalia FAM47E 33
  • 77.41 (n)
-- 34
  • 63 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Fam47e 33
  • 68.58 (n)
mouse
(Mus musculus)
Mammalia Fam47e 33 16 34
  • 67.34 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 35 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 32 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 30 (a)
ManyToMany
-- 34
  • 27 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100127812 33
  • 49.85 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:158260 33 34 34
  • 45.38 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4199 34
  • 22 (a)
OneToMany
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

ENSEMBL:
Gene Tree for FAM47E (if available)
TreeFam:
Gene Tree for FAM47E (if available)

Paralogs for FAM47E Gene

Paralogs for FAM47E Gene

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

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 Sequence Context AA Info Type
rs886041072 Pathogenic 76,213,433(-) AGTAT(-/C)GAGAA upstream-variant-2KB, reference, frameshift-variant
rs200947751 Likely benign 76,213,554(+) GCGCC(A/G)CTCAC upstream-variant-2KB, utr-variant-5-prime
rs774721226 Likely benign 76,213,511(+) GACAA(A/C/T)GTCCC upstream-variant-2KB, reference, synonymous-codon
rs200282963 Uncertain significance 76,213,560(+) CTCAC(A/C/G)GGCCG upstream-variant-2KB, utr-variant-5-prime
rs368906199 Uncertain significance 76,213,464(+) AGACC(C/T)GGGCC upstream-variant-2KB, reference, missense

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)

Relevant External Links for FAM47E Gene

Human Gene Mutation Database (HGMD)
FAM47E
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAM47E

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

Disorders for FAM47E Gene

Relevant External Links for FAM47E

Genetic Association Database (GAD)
FAM47E
Human Genome Epidemiology (HuGE) Navigator
FAM47E
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAM47E

No disorders were found for FAM47E Gene.

No data available for MalaCards , 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 45 60
  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 45 60
  3. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) Simón-Sánchez J … Gasser T (Nature genetics 2009) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. No association of FAM47E rs6812193, SCARB2 rs6825004 and STX1B rs4889603 polymorphisms with Parkinson's disease in a Chinese Han population. (PMID: 26224037) Chen Y … Shang H (Journal of neural transmission (Vienna, Austria : 1996) 2015) 3 60

Products for FAM47E Gene

Sources for FAM47E Gene

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