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

FAM71D Gene

protein-coding   GIFtS: 40
GCID: GC14P067656

family with sequence similarity 71, member D

(Previous name: chromosome 14 open reading frame 54 )
(Previous symbol: C14orf54)
  Search for FAM71D
in our new
 Human Malady Compendium 
Biological research products
for FAM71D
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Family With Sequence Similarity 71, Member D1 2
C14orf541 2 3
Chromosome 14 Open Reading Frame 541
Protein FAM71D2

External Ids:    HGNC: 201011   Entrez Gene: 1611422   Ensembl: ENSG000001727177   UniProtKB: Q8N9W83   

Export aliases for FAM71D gene to outside databases

Previous GC identifers: GC14P066726 GC14P047825


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

  --

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FAM71D gene promoter:
         Oct-B1   oct-B2   HTF   Evi-1   FAC1   POU2F1   POU2F1a   POU2F1b   POU2F1c   TGIF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFAM71D promoter sequence
   Search SABiosciences Chromatin IP Primers for FAM71D

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FAM71D


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

Entrez Gene cytogenetic band: 14q23.3   Ensembl cytogenetic band:  14q23.3   HGNC cytogenetic band: 14q23.3

FAM71D Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FAM71D gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P067656:  view genomic region     (about GC identifiers)

Start:
67,656,110 bp from pter      End:
67,695,267 bp from pter
Size:
39,158 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FA71D_HUMAN, Q8N9W8 (See protein sequence)
Recommended Name: Protein FAM71D  
Size: 422 amino acids; 47076 Da
Secondary accessions: Q86VN4
Alternative splicing: 2 isoforms:  Q8N9W8-1   Q8N9W8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for FAM71D: NX_Q8N9W8

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8N9W8

  • FAM71D Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_775797.2  
    ENSEMBL proteins: 
     ENSP00000436280   ENSP00000431905   ENSP00000433183   ENSP00000454526   ENSP00000432195  
     ENSP00000451865   ENSP00000451960   ENSP00000450695  

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    Uscn Proteins for FAM71D

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--


    FAM71D for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FAM71D


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

    FAM71D for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR022168 DUF3699

    Graphical View of Domain Structure for InterPro Entry Q8N9W8

    ProtoNet protein and cluster: Q8N9W8

    UniProtKB/Swiss-Prot: FA71D_HUMAN, Q8N9W8
    Similarity: Belongs to the FAM71 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FAM71D

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 FAM71D
    Search CenterWatch for drugs/clinical trials and news about FAM71D / FA71D 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FAM71D gene: 
    NM_173526.3  

    Unigene Cluster for FAM71D:

    Family with sequence similarity 71, member D
    Hs.412818  [show with all ESTs]
    Unigene Representative Sequence: NM_173526
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000524532 ENST00000311864(uc001xja.2 uc010aqn.2) ENST00000530728
    ENST00000524914(uc010tsv.2 uc001xiz.3) ENST00000534174 ENST00000556046
    ENST00000553590 ENST00000531566 ENST00000556117 ENST00000557671 ENST00000554500


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    hsa-miR-511 hsa-miR-1244 hsa-miR-4307 hsa-miR-544 hsa-miR-200c* hsa-miR-550a*
    SwitchGear 3'UTR luciferase reporter plasmidFAM71D 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AK093449.1 AK302154.1 BC037380.1 BC050401.1 

    7 DOTS entries:

    DT.75199969  DT.100039443  DT.100743925  DT.100674146  DT.416381  DT.100680917  DT.120773233 

    20 AceView cDNA sequences:

    AK093449 BI832052 AI191975 BC050401 BC037380 NM_173526 AA718918 AX748134 
    BI831380 AA399527 BU101741 BI826576 AA398093 AI699453 AI956014 CD244027 
    BM908047 AI925089 BF881294 AA831479 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for FAM71D    About this scheme

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


    ECgene alternative splicing isoforms for FAM71D

    (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

    FAM71D expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for FAM71D

    SOURCE GeneReport for Unigene cluster: Hs.412818
        SABiosciences Custom PCR Arrays for FAM71D
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FAM71D

    (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 FAM71D gene from 2/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves FAM71D6
    Uncharacterized protein
    33(a)
    1 ↔ 1
    5(31338288-31340838)
    lizard
    (Anolis carolinensis)
    Reptilia FAM71D6
    --
    45(a)
    1 ↔ 1
    GL343272.1(1359617-1367456)


    ENSEMBL Gene Tree for FAM71D (if available)
    TreeFam Gene Tree for FAM71D (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FAM71D gene
    FAM71E12  FAM71A2  ENSG000002677062  FAM71E22  FAM71B2  FAM71C2  FAM71F22  FAM71F12  
    1 SIMAP similar gene for FAM71D using alignment to 7 protein entries:     FA71D_HUMAN (see all proteins):
    FAM71C

    FAM71D for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/692 NCBI SNPs in FAM71D are shown (see all 692    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727173401,2
    C,--67654112(+) NNNNCT/CAAGCC 1 -- us2k14Minor allele frequency- C:0.05CSA WA NA EA 360
    rs1492932401,2
    --67654323(+) AGCAGA/GTGAAG 1 -- us2k10--------
    rs1842704851,2
    --67654331(+) AAGTCC/GCAGCA 1 -- us2k10--------
    rs1445097721,2
    --67654332(+) AGTCCC/TAGCAC 1 -- us2k10--------
    rs1887368651,2
    --67654375(+) AGGCTC/TTTCTT 1 -- us2k10--------
    rs1484278651,2
    --67654382(+) TCTTCC/TGTGAA 1 -- us2k10--------
    rs1811733561,2
    --67654469(+) TGCCTC/GTGTGC 1 -- us2k10--------
    rs65737551,2
    C,F,A,H,--67654476(+) GTGCCT/GTTGCT 1 -- us2k119Minor allele frequency- G:0.43NS EA NA WA CSA 2343
    rs1425306411,2
    --67654604(+) CCTCTA/GTCTTA 1 -- us2k10--------
    rs1861814981,2
    --67654677(+) TTGAGC/TGCAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for FAM71D (67656110 - 67695267 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for FAM71D
         1 CNV: 8772

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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 FAM71D gene integrated from 9 sources:
    (articles sorted by number of sources associating them with FAM71D)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    4. 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)
    5. 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: 161142 HGNC: 20101 AceView: C14orf54 Ensembl:ENSG00000172717 euGenes: HUgn161142
    ECgene: FAM71D H-InvDB: FAM71D

    (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 FAM71D 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 FAM71D gene:
    Search GeneIP for patents involving FAM71D

    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, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, 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),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
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