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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FAM47E Gene

protein-coding   GIFtS: 36
GCID: GC04P077135

Family With Sequence Similarity 47, Member E

Alzheimer's & Parkinson's Diseases Congress
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Family With Sequence Similarity 47, Member E1 2
Similar To Genethonin 11
Protein FAM47E2

External Ids:    HGNC: 343431   Entrez Gene: 1001295832   Ensembl: ENSG000001891577   UniProtKB: Q6ZV653   

Export aliases for FAM47E gene to outside databases

Previous GC identifers: GC04P077354 GC04P077391 GC04P077172 GC04P072924


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for FAM47E Gene: 
FAM47E (family with sequence similarity 47, member E) is a protein-coding gene. Diseases associated with FAM47E include parkinson's disease. An important paralog of this gene is FAM47A.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_016354.19  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM47E gene promoter:
         AhR   HOXA3   ATF-2   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM47E

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM47E


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q21.1   Ensembl cytogenetic band:  4q21.1   HGNC cytogenetic band: 4q21.1

FAM47E Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM47E gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P077135:  view genomic region     (about GC identifiers)

Start:
77,135,193 bp from pter      End:
77,204,933 bp from pter
Size:
69,741 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FA47E_HUMAN, Q6ZV65 (See protein sequence)
Recommended Name: Protein FAM47E  
Size: 393 amino acids; 45662 Da
Secondary accessions: D6R8Y4
Alternative splicing: 3 isoforms:  Q6ZV65-3   Q6ZV65-2   Q6ZV65-1   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM47E: NX_Q6ZV65

Explore proteomics data for FAM47E at MOPED 

FAM47E Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

FAM47E Protein Expression

REFSEQ proteins (2 alternative transcripts): 
NP_001130042.1  NP_001229865.1  

ENSEMBL proteins: 
 ENSP00000422262   ENSP00000422559   ENSP00000409423   ENSP00000476166   ENSP00000340401  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ProtoNet protein and cluster: Q6ZV65

UniProtKB/Swiss-Prot: FA47E_HUMAN, Q6ZV65
Similarity: Belongs to the FAM47 family


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

     Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003712transcription cofactor activity IEA--
     
FAM47E for ontologies           About GeneDecksing


Animal Models:
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM47E

Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006357regulation of transcription from RNA polymerase II promoter IEA--

FAM47E for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for FAM47E (FA47E)

Search CenterWatch for drugs/clinical trials and news about FAM47E / FA47E

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for FAM47E gene (2 alternative transcripts): 
NM_001136570.2  NM_001242936.1  

Unigene Cluster for FAM47E:

Family with sequence similarity 47, member E
Hs.720509  [show with all ESTs]
Unigene Representative Sequence: NM_001242939
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000510197(uc003hjv.3) ENST00000512895 ENST00000515589 ENST00000510328
ENST00000502320(uc003hjw.2 uc010ijf.2) ENST00000424749(uc003hjx.3)
ENST00000606246 ENST00000606550 ENST00000511946 ENST00000339906

miRNA
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Inhib. RNA
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Clone
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Sirion Biotech Customized lentivirus for stable overexpression of FAM47E 
                     Customized lentivirus expression plasmids for stable overexpression of FAM47E 
Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM47E

Additional mRNA sequence: AK124936.1 

8 DOTS entries:

DT.101968082  DT.108168  DT.100755524  DT.40128290  DT.91659128  DT.100009065  DT.97766637  DT.100724266 

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for FAM47E    About this scheme

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


ECgene alternative splicing isoforms for FAM47E

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

FAM47E expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TAATCTTCTC
FAM47E Expression
About this image


See FAM47E Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for FAM47E

SOURCE GeneReport for Unigene cluster: Hs.720509
    SABiosciences Custom PCR Arrays for FAM47E
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QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM47E
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM47E

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for FAM47E gene from 3/9 species (see all 9)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fam47e5 family with sequence similarity 47, member E   --   5 (47.09 cM) 92555069 
lizard
(Anolis carolinensis)
Reptilia --
--
--
30(a)
28(a)
many ↔ many
many ↔ many
5(146835883-146858948)
5(147048073-147073721)
zebrafish
(Danio rerio)
Actinopterygii zgc:1582606
zgc:1582606
zgc:158260
22(a)
22(a)
many ↔ many
many ↔ many
5(56670876-56683246)
5(56751666-56763258)


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for FAM47E gene
FAM47A2  FAM47C2  ENSG000002724142  FAM47B2  
1 SIMAP similar gene for FAM47E using alignment to 5 protein entries:     FA47E_HUMAN (see all proteins):
FAM47DP

FAM47E for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/681 SNPs in FAM47E are shown (see all 681)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 4 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1505635451,2
--77137095(+) TACTCA/GGTAGA 1 -- int10--------
rs1395903511,2
--77137111(+) GGAGCA/GGATGG 1 -- int10--------
rs1492669451,2
--77137199(+) GTTCAA/GATAGA 1 -- int10--------
rs1872281541,2
--77137357(+) GCTCTC/GTGCCC 1 -- int10--------
rs623030001,2
C,F--77137580(+) CTGTTT/AGCGGG 1 -- int16Minor allele frequency- A:0.47NA CSA WA 246
rs1917243351,2
--77137582(+) GTTTGC/TGGGCT 1 -- int10--------
rs1473857321,2
C--77137648(+) ATCCCA/GGGGTA 1 -- int10--------
rs1140182771,2
C,F--77137820(+) TTTACC/TTGCTC 1 -- int11Minor allele frequency- T:0.02WA 118
rs1838925891,2
--77137831(+) TCTGAA/GGATCT 1 -- int10--------
rs1119906181,2
F--77137859(+) GTCAGG/TCGGTT 1 -- int11Minor allele frequency- T:0.50CSA 2

HapMap Linkage Disequilibrium report for FAM47E (77135193 - 77204933 bp)

Structural Variations
     Database of Genomic Variants (DGV) 5 variations for FAM47E:    About this table     
Variant IDTypeSubtypePubMed ID
esv2661271CNV Deletion23128226
esv2421530CNV Deletion20811451
nsv516357CNV Loss19592680
nsv461559CNV Loss19166990
nsv7363OTHER Inversion18451855

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
2 diseases for FAM47E:    About MalaCards
parkinson's disease    


FAM47E for disorders           About GeneDecksing


Congresses - knowledge worth sharing:  
Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
Genetic Association Database (GAD): FAM47E
Human Genome Epidemiology (HuGE) Navigator: FAM47E (1 document)

Export disorders for FAM47E gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
About This Section

PubMed articles for FAM47E gene integrated from 9 sources:
(articles sorted by number of sources associating them with FAM47E)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Web-based genome-wide association study identifies tw o novel loci and a substantial genetic component for Parkinson's disease. (PubMed id 21738487)1, 4 Do C.B....Eriksson N. (2011)
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
  3. Genome-wide association study reveals genetic risk un derlying Parkinson's disease. (PubMed id 19915575)1, 4 SimA^n-SA!nchez J....Gasser T. (2009)
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
  6. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)2 Hillier L.W....Wilson R.K. (2005)
  7. The sequence of the human genome. (PubMed id 11181995)1 Venter J.C.... Zhu X. (2001)
  8. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)1 Bonaldo M.F.... Soares M.B. (1996)
  9. Generation and analysis of 280,000 human expressed sequence tags. (PubMed id 8889549)1 Hillier L.D....Marra M. (1996)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
Entrez Gene: 100129583 HGNC: 34343 Ensembl:ENSG00000189157 euGenes: HUgn100129583 ECgene: FAM47E
H-InvDB: FAM47E

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
NameDescription
PharmGKB entry for FAM47E Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for FAM47E gene:
Search GeneIP for patents involving FAM47E

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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 Regulatory tfbs in FAM47E promoter
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 inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM47E
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Customized:
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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