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

ZNHIT2 Gene

protein-coding   GIFtS: 47
GCID: GC11M064883

Zinc Finger, HIT-Type Containing 2

(Previous names: chromosome 11 open reading frame 5, zinc finger, HIT domain...)
(Previous symbol: C11orf5)
  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
Zinc Finger, HIT-Type Containing 21 2     Chromosome 11 Open Reading Frame 51
C11orf51 2 3 5     Zinc Finger HIT Domain-Containing Protein 22
Zinc Finger, HIT Domain Containing 21 2     Zinc Finger, HIT Type 22
FON2 5     Protein FON3

External Ids:    HGNC: 11771   Entrez Gene: 7412   Ensembl: ENSG000001742767   OMIM: 6045755   UniProtKB: Q9UHR63   

Export aliases for ZNHIT2 gene to outside databases

Previous GC identifers: GC11M064640 GC11M061210


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

GeneCards Summary for ZNHIT2 Gene: 
ZNHIT2 (zinc finger, HIT-type containing 2) is a protein-coding gene. Diseases associated with ZNHIT2 include choriocarcinoma. GO annotations related to this gene include metal ion binding.


(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_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ZNHIT2 gene promoter:
         HEN1   GR   AP-1   GR-beta   GR-alpha   ATF   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidZNHIT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ZNHIT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ZNHIT2


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.1   HGNC cytogenetic band: 11q13

ZNHIT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ZNHIT2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M064883:  view genomic region     (about GC identifiers)

Start:
64,883,875 bp from pter      End:
64,885,170 bp from pter
Size:
1,296 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: ZNHI2_HUMAN, Q9UHR6 (See protein sequence)
Recommended Name: Zinc finger HIT domain-containing protein 2  
Size: 403 amino acids; 42884 Da
1 PDB 3D structure from and Proteopedia for ZNHIT2:
1X4S (3D)    
Secondary accessions: Q3SY14 Q8IUV0

Explore the universe of human proteins at neXtProt for ZNHIT2: NX_Q9UHR6

Explore proteomics data for ZNHIT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UHR6

  • ZNHIT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ZNHIT2 Protein Expression
    REFSEQ proteins: NP_055020.1  
    ENSEMBL proteins: 
     ENSP00000436896   ENSP00000308548  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ZNHIT: Zinc fingers, HIT-type

    1 InterPro protein domain:
     IPR007529 Znf_HIT

    Graphical View of Domain Structure for InterPro Entry Q9UHR6

    ProtoNet protein and cluster: Q9UHR6

    1 Blocks protein domain: IPB007529 HIT Zn-finger

    UniProtKB/Swiss-Prot: ZNHI2_HUMAN, Q9UHR6
    Similarity: Contains 1 HIT-type zinc finger


    ZNHIT2 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
         
    ZNHIT2 for ontologies           About GeneDecksing


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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 ZNHIT2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for ZNHIT2 (Q9UHR63 ENSP000003085484) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RUVBL2Q9Y2303, ENSP000002214134I2D: score=1 STRING: ENSP00000221413
    UBCENSP000003448184STRING: ENSP00000344818
    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 ZNHIT2 (ZNHI2)

    Search CenterWatch for drugs/clinical trials and news about ZNHIT2 / ZNHI2

    (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 ZNHIT2 gene: 
    NM_014205.2  

    Unigene Cluster for ZNHIT2:

    Zinc finger, HIT-type containing 2
    Hs.121025  [show with all ESTs]
    Unigene Representative Sequence: AK027081
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000528598 ENST00000310597(uc001ocw.3)
    miRNA
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    Inhib. RNA
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    OriGene ORF clones in mouse, rat for ZNHIT2
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ZNHIT2
    Sirion Biotech Customized lentivirus for stable overexpression of ZNHIT2 
                         Customized lentivirus expression plasmids for stable overexpression of ZNHIT2 
    Primer
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    OriGene qPCR primer pairs and template standards for ZNHIT2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ZNHIT2
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    Additional mRNA sequence: 

    AF119497.1 AK027081.1 AK223333.1 AK223358.1 BC029825.1 BC038089.1 BC052240.1 BC057799.1 
    BC104002.2 BC104003.2 

    3 DOTS entries:

    DT.100849242  DT.114951  DT.120731422 

    24/687 AceView cDNA sequences (see all 687):

    BP356785 AW015072 CR593043 BG818451 AA904773 AL533740 BI856372 AK129986 
    BG255113 BQ691872 AI829931 AI917609 AI360318 BQ023717 CD557273 BQ690975 
    CA391360 AI625855 BF685661 BM563714 BQ688370 BU155359 BE297050 BM727244 

    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

    ZNHIT2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGTGGTAGC
    ZNHIT2 Expression
    About this image


    See ZNHIT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ZNHIT2

    SOURCE GeneReport for Unigene cluster: Hs.121025

    UniProtKB/Swiss-Prot: ZNHI2_HUMAN, Q9UHR6
    Tissue specificity: Low expression in most tissues; highly expressed in testis

        SABiosciences Custom PCR Arrays for ZNHIT2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ZNHIT2

    (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 eukaryotes.

    Orthologs for ZNHIT2 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Znhit21 , 5 zinc finger, HIT domain containing 2, pseudogene5
    zinc finger, HIT domain containing 21
    81.48(n)1
    83.59(a)1
      19 (4.34 cM)5
    298051  NM_013859.21  NP_038887.21 
     60611925 
    lizard
    (Anolis carolinensis)
    Reptilia ZNHIT26
    Uncharacterized protein
    39(a)
    1 ↔ 1
    GL344606.1(14107-16473)
    zebrafish
    (Danio rerio)
    Actinopterygii znhit21 zinc finger, HIT-type containing 2 47(n)
    38.05(a)
      777606  NM_001077618.1  NP_001071086.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG312231 CG31223   --   326127  NM_169932.1  NP_732563.1 
    worm
    (Caenorhabditis elegans)
    Secernentea zhit-26
    Protein ZHIT-2
    26(a)
    1 ↔ 1
    III(4243669-4244385)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G638301 HIT-type Zinc finger family protein 38(n)
    28.87(a)
      836503  NM_125778.3  NP_201188.3 
    rice
    (Oryza sativa)
    Liliopsida Os10g05207001 hypothetical protein 42.24(n)
    31.13(a)
      4349140  NM_001071621.1  NP_001065086.1 


    ENSEMBL Gene Tree for ZNHIT2 (if available)
    TreeFam Gene Tree for ZNHIT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/101 SNPs in ZNHIT2 are shown (see all 101)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357204
    A breast cancer sample4--see VAR_0357202 A P mis40--------
    rs3751442011,2
    C--64803892(+) CTCGCC/TTGCTT 2 S G mis10--------
    rs359768141,2
    C,F--64803948(+) AGACTT/CGCTGG 2 /Q /R mis12Minor allele frequency- C:0.00NA 2534
    rs2005640111,2
    C--64803968(+) GCTCCG/AGAAAC 2 /S syn11Minor allele frequency- A:0.00EU 457
    rs1995555421,2
    --64804011(+) GCGCGA/TCGTCA 2 D V mis10--------
    rs2017604691,2
    --64804086(+) CGAGCA/GGCGAG 2 P L mis10--------
    rs2005080221,2
    --64804157(+) GCCCCC/GGGGAC 2 P syn10--------
    rs359849381,2
    C--64804178(+) ACCCGC/ATCGGC 2 /E /D mis11Minor allele frequency- A:0.01NA 74
    rs359832511,2,4
    C,F--64804185(+) CGGCGG/ACCGCG 2 /A /V mis14Minor allele frequency- A:0.10NA WA 196
    rs351783031,2
    C,F--64804206(+) CGGAGG/TCATCT 2 D A mis12Minor allele frequency- T:0.00NA EU 499

    HapMap Linkage Disequilibrium report for ZNHIT2 (64883875 - 64885170 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ZNHIT2:    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv1174n71CNV Loss21882294
    nsv526181CNV Gain19592680

    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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604575    OMIM disorders: --

    2 diseases for ZNHIT2:    About MalaCards
    choriocarcinoma    


    ZNHIT2 for disorders           About GeneDecksing


    Export disorders for ZNHIT2 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 ZNHIT2 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with ZNHIT2)
        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. Molecular characterization of human and murine c11orf5, a new member of the FAUNA gene cluster. (PubMed id 10602999)1, 2 Lemmens I.H.... Kas K. (2000)
    3. Solution structure of the zinc finger HIT domain in protein FON. (PubMed id 17656577)1, 9 He F....Yokoyama S. (2007)
    4. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    5. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    6. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    7. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Systematic analysis of human protein complexes identi fies chromosome segregation proteins. (PubMed id 20360068)1 Hutchins J.R....Peters J.M. (2010)
    10. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)2 Daub H.... Mann M. (2008)

    (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: 741 HGNC: 1177 AceView: MRPL49 Ensembl:ENSG00000174276 euGenes: HUgn741
    ECgene: ZNHIT2 H-InvDB: ZNHIT2

    (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 ZNHIT2 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 ZNHIT2 gene:
    Search GeneIP for patents involving ZNHIT2

    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: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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