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ZFYVE9 Gene

protein-coding   GIFtS: 61
GCID: GC01P052608

Zinc Finger, FYVE Domain Containing 9

(Previous names: MAD, mothers against decapentaplegic homolog (Drosophila)...)
(Previous symbol: MADHIP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Zinc Finger, FYVE Domain Containing 91 2     SMADIP2 3
MADHIP1 2 3     MAD, Mothers Against Decapentaplegic Homolog (Drosophila) Interacting
Protein, Receptor Activation Anchor1
Madh-Interacting Protein2 3     MAD, Mothers Against Decapentaplegic Homolog Interacting Protein, Receptor
Activation Anchor2
Novel Serine Protease2 3     Zinc Finger FYVE Domain-Containing Protein 92
Smad Anchor For Receptor Activation2 3     hSARA3
NSP2 3     Mothers Against Decapentaplegic Homolog-Interacting Protein3
SARA2 3     Receptor Activation Anchor3

External Ids:    HGNC: 67751   Entrez Gene: 93722   Ensembl: ENSG000001570777   OMIM: 6037555   UniProtKB: O954053   

Export aliases for ZFYVE9 gene to outside databases

Previous GC identifers: GC01P051978 GC01P052320 GC01P052394 GC01P052380 GC01P050725


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ZFYVE9 Gene:
This gene encodes a double zinc finger motif-containing protein that participates in the transforming growth
factor-beta (TGFB) signalling pathway. The encoded protein interacts directly with SMAD2 and SMAD3, and recruits
SMAD2 to the TGFB receptor. There are multiple pseudogenes for this gene on chromosomes 2, 15, and X. Alternative
splicing results in multiple transcript variants. (provided by RefSeq, Mar 2013)

GeneCards Summary for ZFYVE9 Gene:
ZFYVE9 (zinc finger, FYVE domain containing 9) is a protein-coding gene. GO annotations related to this gene include serine-type peptidase activity and 1-phosphatidylinositol binding. An important paralog of this gene is PIKFYVE.

UniProtKB/Swiss-Prot: ZFYV9_HUMAN, O95405
Function: Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the
TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of
SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with
TGF-beta receptor internalization

Gene Wiki entry for ZFYVE9 (Zinc finger FYVE domain-containing protein 9) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the ZFYVE9 gene promoter:
         C/EBPbeta   CUTL1   GATA-2   FOXL1   Evi-1   Max   RORalpha1   N-Myc   ZIC2/Zic2   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZFYVE9 promoter sequence
   Search Chromatin IP Primers for ZFYVE9

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ZFYVE9


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

Entrez Gene cytogenetic band: 1p32.3   Ensembl cytogenetic band:  1p32.3   HGNC cytogenetic band: 1p32.3

ZFYVE9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZFYVE9 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P052608:  view genomic region     (about GC identifiers)

Start:
52,608,046 bp from pter      End:
52,812,358 bp from pter
Size:
204,313 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ZFYV9_HUMAN, O95405 (See protein sequence)
Recommended Name: Zinc finger FYVE domain-containing protein 9  
Size: 1425 amino acids; 156403 Da
Subunit: Interacts (via the SBD region) with SMAD2; the interaction recruits SMAD2 to the TGF-beta receptor and is
disrupted by phosphorylation of SMAD2 upon TGF-beta receptor activation. Interacts with SMAD3. Interacts with
TGFBR1 and TGFBR2; the interaction recruits SMAD2 to the TGF-beta receptor. Interacts with PML
Sequence caution: Sequence=AAC99462.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAD31694.1; Type=Frameshift; Positions=1243;
3 PDB 3D structures from and Proteopedia for ZFYVE9:
1DEV (3D)        1MK2 (3D)        4BKW (3D)    
Secondary accessions: Q5T0F6 Q5T0F7 Q9UNE1 Q9Y5R7
Alternative splicing: 3 isoforms:  O95405-1   O95405-2   O95405-3   (May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay)

Explore the universe of human proteins at neXtProt for ZFYVE9: NX_O95405

Explore proteomics data for ZFYVE9 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ZFYVE9 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_004790.2  NP_015563.2  

    ENSEMBL proteins: 
     ENSP00000349737   ENSP00000360647   ENSP00000287727  
    Reactome Protein details: O95405

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ZFYVE: Zinc fingers, FYVE domain containing

    Selected InterPro protein domains (see all 7):
     IPR000306 Znf_FYVE
     IPR017165 Znf_FYVE_SARA/endofin
     IPR013083 Znf_RING/FYVE/PHD
     IPR024608 SARA_Smad-bd
     IPR017455 Znf_FYVE-rel

    Graphical View of Domain Structure for InterPro Entry O95405

    ProtoNet protein and cluster: O95405

    1 Blocks protein domain: IPB000306 Zn-finger

    UniProtKB/Swiss-Prot: ZFYV9_HUMAN, O95405
    Domain: The SMAD binding domain (SBD) interacts with the MH2 domains of SMAD2 or SMAD3
    Domain: The FYVE-type zinc finger is necessary and sufficient for its localization into early endosomes and
    mediates the association with PI3P
    Similarity: Contains 1 FYVE-type zinc finger


    Find genes that share domains with ZFYVE9           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ZFYV9_HUMAN, O95405
    Function: Early endosomal protein that functions to recruit SMAD2/SMAD3 to intracellular membranes and to the
    TGF-beta receptor. Plays a significant role in TGF-mediated signaling by regulating the subcellular location of
    SMAD2 and SMAD3 and modulating the transcriptional activity of the SMAD3/SMAD4 complex. Possibly associated with
    TGF-beta receptor internalization

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12154125
    GO:00055451-phosphatidylinositol binding IDA11877415
    GO:0008236serine-type peptidase activity NAS9582421
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with ZFYVE9           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ZFYVE9

    miRNA
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    miRTarBase miRNAs that target ZFYVE9:
    hsa-mir-222-3p (MIRT046751), hsa-mir-615-3p (MIRT039606)

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    SwitchGear 3'UTR luciferase reporter plasmidZFYVE9 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ZFYV9_HUMAN, O95405: Cytoplasm. Early endosome membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    cytosol3
    extracellular2
    nucleus2

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005769early endosome NAS12809483
    GO:0031901early endosome membrane TAS--

    Find genes that share ontologies with ZFYVE9           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ZFYVE9 About   (see all 12)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Loss of Function of SMAD2/3 in Cancer
    Loss of Function of SMAD2/3 in Cancer0.60
    TGFBR1 KD Mutants in Cancer0.60
    Loss of Function of SMAD4 in Cancer0.60
    SMAD2/3 MH2 Domain Mutants in Cancer0.60
    TGFBR2 MSI Frameshift Mutants in Cancer0.60
    SMAD2/3 Phosphorylation Motif Mutants in Cancer0.60
    Signaling by TGF-beta Receptor Complex in Cancer0.60
    SMAD4 MH2 Domain Mutants in Cancer0.60
    2TGF-beta receptor signaling activates SMADs
    Downregulation of TGF-beta receptor signaling0.82
    TGF-beta receptor signaling activates SMADs0.82
    3Cytokine production by Th17 cells in CF
    Cytokine production by Th17 cells in CF Mouse model 0.72
    4Signaling by GPCR
    Signal Transduction0.58
    5Cell cycle Regulation of G1 S transition part 1
    Cell cycle Regulation of G1 S transition part 1 0.39


    Find genes that share SuperPaths with ZFYVE9           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ZFYVE9
        SMAD Signaling Network

    3 GeneGo (Thomson Reuters) Pathways for ZFYVE9
        Cell cycle Regulation of G1/S transition (part 1)
    Cytokine production by Th17 cells in CF (Mouse model)
    Development TGF-beta receptor signaling

    3 BioSystems Pathways for ZFYVE9
        TGF Beta Signaling Pathway
    TGF-beta Receptor Signaling Pathway
    TGF-beta receptor signaling

    5 Reactome Pathways for ZFYVE9
        TGF-beta receptor signaling activates SMADs
    TGFBR1 KD Mutants in Cancer
    SMAD2/3 Phosphorylation Motif Mutants in Cancer
    Downregulation of TGF-beta receptor signaling
    SMAD2/3 MH2 Domain Mutants in Cancer


    2 Kegg Pathways  (Kegg details for ZFYVE9):
        Endocytosis
    TGF-beta signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ZFYVE9
    Interactions:

        GeneGlobe Interaction Network for ZFYVE9

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ZFYVE9 (O954051, 2, 3 ENSP000002877274) via UniProtKB, MINT, STRING, and/or I2D (see all 117)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMAD2Q157961, 2, 3, ENSP000002621604EBI-296817,EBI-1040141 MINT-62035 MINT-6799207 I2D: score=5 STRING: ENSP00000262160
    SMAD3P840221, 2, 3, ENSP000003329734EBI-296817,EBI-347161 MINT-61712 MINT-25061 I2D: score=5 STRING: ENSP00000332973
    PPP1CAP621361, 2, 3, ENSP000003260314EBI-296817,EBI-357253 MINT-62212 MINT-62058 I2D: score=3 STRING: ENSP00000326031
    ENSG00000096155P463792, 3MINT-62059 I2D: score=3 
    ENSG00000227761P463792, 3MINT-62059 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis NAS9582421
    GO:0006897endocytosis NAS12809483
    GO:0007179transforming growth factor beta receptor signaling pathway TAS--
    GO:0007183SMAD protein complex assembly IDA9865696
    GO:0007184SMAD protein import into nucleus IMP9865696

    Find genes that share ontologies with ZFYVE9           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for ZFYVE9 (ZFYV9)

    8 Novoseek inferred chemical compound relationships for ZFYVE9 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 82.9 111 12795636 (3), 16373075 (3), 16176265 (3), 14871620 (2) (see all 94)
    phosphatidylinositol 3-phosphate 68.2 2 14618335 (1)
    fibrinogen 31.2 1 17674318 (1)
    threonine 16.9 1 18824507 (1)
    proline 13.7 2 11067927 (1), 10477574 (1)
    oligonucleotide 0 1 11327827 (1)
    calcium 0 1 1467310 (1)
    heparin 0 1 14976449 (1)



    Find genes that share compounds with ZFYVE9           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ZFYVE9 gene (3 alternative transcripts): 
    NM_004799.3  NM_007324.3  NM_007323.1  

    Unigene Cluster for ZFYVE9:

    Zinc finger, FYVE domain containing 9
    Hs.532345  [show with all ESTs]
    Unigene Representative Sequence: NM_004799
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361625(uc001ctn.3) ENST00000357206 ENST00000371591 ENST00000469134
    ENST00000287727(uc001cto.3 uc001ctp.3)
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    Additional mRNA sequence: 

    AB209125.1 AF104304.1 AF130419.1 AF130420.1 BC032680.1 

    8 DOTS entries:

    DT.433909  DT.95162342  DT.91751079  DT.121299536  DT.435254  DT.91751077  DT.91751078  DT.40288736 

    Selected AceView cDNA sequences (see all 40):

    BM463429 BX646047 BM716723 BE048597 AA156466 BQ340247 AI632587 BX096354 
    BV195342 BI035332 BF961624 AF130420 AV705707 BF671658 CB047955 AI797623 
    NM_007323 AW614993 AW301671 BG536226 BF961623 AF130419 NM_004799 BE082533 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ZFYVE9    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b
    SP1:                                            -                                                                                             
    SP2:                                            -     -                                                                                       
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          


    ECgene alternative splicing isoforms for ZFYVE9

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ZFYVE9 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTCAGAAA
    ZFYVE9 Expression
    About this image


    ZFYVE9 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Blood (Hematopoietic System)
             Monocytes Peripheral Blood
    ZFYVE9 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ZFYVE9 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.532345

    UniProtKB/Swiss-Prot: ZFYV9_HUMAN, O95405
    Tissue specificity: Ubiquitous. In the brain found primarily in the cerebrovascular smooth muscle cells and
    reactive astrocytes

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    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ZFYVE9 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Zfyve91 , 5 zinc finger, FYVE domain containing 91, 5 91.94(n)1
    97.71(a)1
      4 (50.64 cM)5
    2305971  NM_183300.21  NP_899123.21 
     1086374665 
    chicken
    (Gallus gallus)
    Aves ZFYVE91 zinc finger, FYVE domain containing 9 77.38(n)
    78.16(a)
      424639  XM_422473.4  XP_422473.3 
    lizard
    (Anolis carolinensis)
    Reptilia ZFYVE96
    zinc finger, FYVE domain containing 9
    73(a)
    1 ↔ 1
    4(114430678-114504738)
    African clawed frog
    (Xenopus laevis)
    Amphibia madhip-A2 Smad anchor for receptor activation 80.04(n)    AF104305.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zfyve9a1 zinc finger, FYVE domain containing 9a 70.73(n)
    77.63(a)
      100005449  XM_005171197.1  XP_005171254.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes FAB16
    1-phosphatidylinositol-3-phosphate 5-kinase; vacuo...
    6(a)
    1 → many
    VI(184502-191338) YFR019W


    ENSEMBL Gene Tree for ZFYVE9 (if available)
    TreeFam Gene Tree for ZFYVE9 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ZFYVE9 gene
    PIKFYVE2  ZFYVE162  ZFYVE212  ZFYVE282  
    1 SIMAP similar gene for ZFYVE9 using alignment to 3 protein entries:     ZFYV9_HUMAN (see all proteins):
    ZFYVE16

    Find genes that share paralogs with ZFYVE9           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for ZFYVE9
    PGOHUM00000258837 PGOHUM00000246994 PGOHUM00000240587 PGOHUM00000242043


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ZFYVE9 (see all 3810)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1178458951,2
    C,F--52605786(+) GATCTC/GAATCA 2 -- us2k11Minor allele frequency- G:0.03EA 120
    rs1147751161,2
    F--52605791(+) CAATCA/GGTTGA 2 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1828963091,2
    --52605798(+) TTGAAA/GGGCCC 2 -- us2k10--------
    rs1875747421,2
    --52606082(+) ATGTGA/GCAAAG 2 -- us2k10--------
    rs1165981411,2
    C,F--52606336(+) TATGAG/AGCTCT 2 -- us2k12Minor allele frequency- A:0.02NA EA 240
    rs1396910921,2
    --52606363(+) GTGTTA/TCATAA 2 -- us2k10--------
    rs27645601,2
    C,F,A,H--52606443(+) GACAGG/AAATAC 2 -- us2k113Minor allele frequency- A:0.02NA WA CSA EA 376
    rs3774397741,2
    F,H--52606443(+) GACAG-/A/GAATAC 2 -- us2k14NS EA 412
    rs106545361,2
    C--52606476(+) cacat-/ACacaca 2 -- us2k10--------
    rs2008012321,2
    C--52606486(+) ACACAC/GAGAGA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for ZFYVE9 (52608046 - 52812358 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ZFYVE9:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1012300CNV Deletion17803354
    esv2748118CNV Deletion23290073
    esv2669236CNV Deletion23128226
    nsv855CNV Insertion18451855
    nsv822553CNV Loss20364138
    esv25536CNV Loss19812545
    nsv819763CNV Gain19587683

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 603755    OMIM disorders: --


    Find genes that share disorders with ZFYVE9           About GenesLikeMe

    Selected Novoseek inferred disease relationships for ZFYVE9 gene (see all 14)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nephropathy iga 33.4 2 16796905 (1), 12386281 (1)
    ovarian carcinoma 20.3 1 10485494 (1)
    diabetic nephropathies 19.4 1 12386281 (1)
    disseminated intravascular coagulation 16.6 1 8745149 (1)
    metastasis 14 4 11751384 (1), 8876194 (1), 12430137 (1), 16049007 (1)
    cervical cancer 7.71 1 14749636 (1)
    cancer 4.55 4 18243805 (1), 16176265 (1), 15713679 (1), 16049007 (1)
    tumors 4.28 10 1727874 (1), 11751384 (1), 15297163 (1), 8876194 (1) (see all 8)
    ovarian cancer 3.66 1 18243805 (1)
    carcinoma squamous cell 0 2 11161383 (1), 16320362 (1)

    Genetic Association Database (GAD): ZFYVE9

    Export disorders for ZFYVE9 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)
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    PubMed articles for ZFYVE9 gene, integrated from 10 sources (see all 149):
    (articles sorted by number of sources associating them with ZFYVE9)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor. (PubMed id 9865696)1, 2, 3, 9 Tsukazaki T.... Wrana J.L. (Cell 1998)
    2. Smad3 allostery links TGF-beta receptor kinase activation to transcriptional control. (PubMed id 12154125)1, 2, 9 Qin B.Y.... Lin K. (Genes Dev. 2002)
    3. Identification of a novel serine protease-like molecule in human brain. (PubMed id 9582421)1, 2, 9 Meckelein B.... Abraham C.R. (Brain Res. Mol. Brain Res. 1998)
    4. Cytoplasmic PML function in TGF-beta signalling. (PubMed id 15356634)1, 2, 9 Lin H.K.... Pandolfi P.P. (Nature 2004)
    5. Early endosomal regulation of Smad-dependent signaling in endothelial cells. (PubMed id 11877415)1, 2, 9 Panopoulou E.... Fotsis T. (J. Biol. Chem. 2002)
    6. An unappreciated role for RNA surveillance. (PubMed id 14759258)1, 2 Hillman R.T.... Brenner S.E. (Genome Biol. 2004)
    7. 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. (Genome Res. 2004)
    8. Structural basis of Smad2 recognition by the Smad anchor for receptor activation. (PubMed id 10615055)1, 2 Wu G.... Shi Y. (Science 2000)
    9. SARA, a FYVE domain protein, affects Rab5-mediated endocytosis. (PubMed id 12432064)1, 9 Hu Y....Sung C.H. (J. Cell. Sci. 2002)
    10. Role of SARA (SMAD anchor for receptor activation) in maintenance of epithelial cell phenotype. (PubMed id 19620243)1, 9 Runyan C.E....Schnaper H.W. (J. Biol. Chem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
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    Entrez Gene: 9372 HGNC: 6775 AceView: ZFYVE9 Ensembl:ENSG00000157077 euGenes: HUgn9372
    ECgene: ZFYVE9 Kegg: 9372 H-InvDB: ZFYVE9

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ZFYVE9 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ZFYVE9 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ZFYVE9 gene:
    Search GeneIP for patents involving ZFYVE9

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



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