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

FAM71E2 Gene

protein-coding   GIFtS: 36
GCID: GC19M055866          (predicted)

Family With Sequence Similarity 71, Member E2

(Previous name: chromosome 19 open reading frame 16)
(Previous symbol: C19orf16)
  Search for FAM71E2
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 71, Member E21 2
C19orf161 2 3
Chromosome 19 Open Reading Frame 161
Protein FAM71E22
Putative Protein FAM71E22

External Ids:    HGNC: 252781   Entrez Gene: 2844182   Ensembl: ENSG000001800437   UniProtKB: Q8N5Q13   

Export aliases for FAM71E2 gene to outside databases

Previous GC identifers: GC19M060569 GC19M060570 GC19M060571 GC19M060573 GC19M060574 GC19M052190


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

GeneCards Summary for FAM71E2 Gene: 
FAM71E2 (family with sequence similarity 71, member E2) is a protein-coding gene. An important paralog of this gene is FAM71E1.


(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_000019.9  NC_018930.2  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM71E2 gene promoter:
         ER-alpha   NF-1   PPAR-gamma1   Pax-5   AML1a   NRSF form 1   STAT3   PPAR-gamma2   NRSF form 2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for FAM71E2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM71E2


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

Entrez Gene cytogenetic band: 19q13.42   Ensembl cytogenetic band:  19q13.42   HGNC cytogenetic band: 19q13.42

FAM71E2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71E2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M055866:  view genomic region     (about GC identifiers)

Start:
55,866,276 bp from pter      End:
55,874,628 bp from pter
Size:
8,353 bases      Orientation:
minus 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: F71E2_HUMAN, Q8N5Q1 (See protein sequence)
Recommended Name: Putative protein FAM71E2  
Size: 922 amino acids; 99915 Da
Caution: Product of a dubious CDS prediction
Sequence caution: Sequence=AAH31875.1; Type=Frameshift; Positions=198; Sequence=AAH31875.1; Type=Miscellaneous
discrepancy; Note=Contaminating sequence. Potential poly-A sequence;

Explore the universe of human proteins at neXtProt for FAM71E2: NX_Q8N5Q1

Explore proteomics data for FAM71E2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N5Q1

  • FAM71E2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FAM71E2 Protein Expression
    REFSEQ proteins: NP_001138874.1  
    ENSEMBL proteins: 
     ENSP00000466418   ENSP00000398617  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR022168 DUF3699

    Graphical View of Domain Structure for InterPro Entry Q8N5Q1

    ProtoNet protein and cluster: Q8N5Q1

    UniProtKB/Swiss-Prot: F71E2_HUMAN, Q8N5Q1
    Similarity: Belongs to the FAM71 family


    FAM71E2 for domains           About GeneDecksing


    (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

    Phenotypes:
         1 GenomeRNAi human phenotype for FAM71E2:
     Lamellipodia and high actin ra 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FAM71E2 
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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 FAM71E2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for FAM71E2 (ENSP000003986174) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALBENSP000002958974STRING: ENSP00000295897
    About this table

    (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 FAM71E2 (F71E2)

    Search CenterWatch for drugs/clinical trials and news about FAM71E2 / F71E2

    (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,
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    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 FAM71E2 gene: 
    NM_001145402.1  

    Unigene Cluster for FAM71E2:

    Family with sequence similarity 71, member E2
    Hs.528319  [show with all ESTs]
    Unigene Representative Sequence: NM_001145402
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000585734 ENST00000424985(uc002qkr.2 uc002qkq.2)
    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for FAM71E2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat FAM71E2

    Additional mRNA sequence: 

    AL834316.1 BC031875.1 

    3 DOTS entries:

    DT.95207281  DT.95113967  DT.75139246 

    GeneLoc Exon Structure


    (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

    FAM71E2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGATGCCAG
    FAM71E2 Expression
    About this image


    See FAM71E2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FAM71E2

    SOURCE GeneReport for Unigene cluster: Hs.528319
        SABiosciences Custom PCR Arrays for FAM71E2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71E2

    (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 human and mouse.

    Orthologs for FAM71E2 gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fam71e21 , 5 family with sequence similarity 71, member E21, 5 64.35(n)1
    48.15(a)1
      7 (2.75 cM)5
    2438221  NM_172895.31  NP_766483.31 
     47532265 


    ENSEMBL Gene Tree for FAM71E2 (if available)
    TreeFam Gene Tree for FAM71E2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM71E2 gene
    FAM71E12  FAM71D2  ENSG000002677062  FAM71A2  FAM71B2  FAM71C2  FAM71F22  FAM71F12  
    2 SIMAP similar genes for FAM71E2 using alignment to 2 protein entries:     F71E2_HUMAN (see all proteins):
    LOC112703    FAM71C

    FAM71E2 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

    10/248 SNPs in FAM71E2 are shown (see all 248)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1511590491,2
    --55868279(+) CCGGGC/TGTGGT 1 -- int10--------
    rs1405735261,2
    --55868301(+) ATAATC/TCCAGC 1 -- int10--------
    rs1123766311,2
    C,F--55868325(+) AAGAGG/CCTGAC 1 -- int11Minor allele frequency- C:0.08NA 120
    rs1837772661,2
    --55868354(+) CAGGAA/GGCAGA 1 -- int10--------
    rs116659151,2
    H--55868398(+) ctagcA/Ctgggc 1 -- int10--------
    rs1174710701,2
    F--55868429(+) GAAAAG/CAGAAG 1 -- int11Minor allele frequency- C:0.01EA 120
    rs730549371,2
    C,F--55868444(+) AGGGAG/AGGGAG 1 -- int12Minor allele frequency- A:0.05WA NA 238
    rs776290131,2
    C,F--55868460(+) CTCCAA/GCCCAT 1 -- int11Minor allele frequency- G:0.17NA 120
    rs1500355121,2
    --55868466(+) CCCATA/GAGTAG 1 -- int10--------
    rs81010311,2
    C,F--55868610(+) tgcccC/Tcctac 1 -- int11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for FAM71E2 (55866276 - 55874628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for FAM71E2 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2718963CNV Deletion23290073
    esv2718961CNV Deletion23290073
    esv5326CNV Deletion18987735
    esv1695561CNV Deletion17803354
    esv2718964CNV Deletion23290073
    esv1487088CNV Insertion17803354
    dgv4017n71CNV Loss21882294
    nsv912461CNV Loss21882294
    nsv912457CNV Loss21882294
    dgv4019n71CNV Loss21882294

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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

    FAM71E2 for disorders           About MalaCards

    FAM71E2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): FAM71E2
    Human Genome Epidemiology (HuGE) Navigator: FAM71E2 (3 documents)

    Export disorders for FAM71E2 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 FAM71E2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM71E2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    2. Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121)1 Talmud P.J.... . (2009)
    3. An investigation into the human serum 'interacto me'. (PubMed id 15174051)1 Zhou M....Conrads T.P. (2004)
    4. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (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: 284418 HGNC: 25278 Ensembl:ENSG00000180043 euGenes: HUgn284418 ECgene: FAM71E2
    H-InvDB: FAM71E2

    (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 FAM71E2 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 FAM71E2 gene:
    Search GeneIP for patents involving FAM71E2

    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    (GIFtS: 73)
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