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

KHNYN Gene

protein-coding   GIFtS: 47
GCID: GC14P024900

KH And NYN Domain Containing

(Previous name: KIAA0323)
(Previous symbol: KIAA0323)
  See related diseases
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
KH And NYN Domain Containing1 2
KIAA03231 2 3
KH And NYN Domain-Containing Protein2 3
Protein KHNYN2

External Ids:    HGNC: 201661   Entrez Gene: 233512   Ensembl: ENSG000001004417   UniProtKB: O150373   

Export aliases for KHNYN gene to outside databases

Previous GC identifers: GC14P023969 GC14P005013


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

GeneCards Summary for KHNYN Gene: 
KHNYN (KH and NYN domain containing) is a protein-coding gene. Diseases associated with KHNYN include intrahepatic cholangiocarcinoma, and cholangiocarcinoma. GO annotations related to this gene include molecular_function. An important paralog of this gene is NYNRIN.


(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_000014.8  NT_026437.12  NC_018925.2  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KHNYN
         Other transcription factors

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

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


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

Entrez Gene cytogenetic band: 14q12   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P024900:  view genomic region     (about GC identifiers)

Start:
24,898,492 bp from pter      End:
24,910,548 bp from pter
Size:
12,057 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: KHNYN_HUMAN, O15037 (See protein sequence)
Recommended Name: Protein KHNYN  
Size: 678 amino acids; 74534 Da
Sequence caution: Sequence=BAA20781.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q86TZ6 Q8IUQ2 Q96BA9

Explore the universe of human proteins at neXtProt for KHNYN: NX_O15037

Explore proteomics data for KHNYN at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15037

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

    KHNYN Protein Expression
    REFSEQ proteins: NP_056114.1  
    ENSEMBL proteins: 
     ENSP00000251343   ENSP00000451106   ENSP00000450799   ENSP00000451004   ENSP00000451227  

    Human Recombinant Protein Products for KHNYN: 
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    Novus Biologicals KHNYN Lysates
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for KHNYN 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    KHNYN for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for KHNYN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR021869 RNase_Zc3h12

    Graphical View of Domain Structure for InterPro Entry O15037

    ProtoNet protein and cluster: O15037

    UniProtKB/Swiss-Prot: KHNYN_HUMAN, O15037
    Similarity: Belongs to the N4BP1 family


    KHNYN 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:0003674molecular_function ND--
         
    KHNYN for ontologies           About GeneDecksing


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

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KHNYN 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidKHNYN 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHNYN


    (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 KHNYN

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

    1 Interacting protein for KHNYN (ENSP000002513434) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    KHNYN 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 KHNYN

    Search CenterWatch for drugs/clinical trials and news about KHNYN

    (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 KHNYN gene: 
    NM_015299.2  

    Unigene Cluster for KHNYN:

    KH and NYN domain containing
    Hs.713590  [show with all ESTs]
    Unigene Representative Sequence: NM_015299
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000251343(uc010tpc.2 uc001wph.4 uc010alw.3) ENST00000556842
    ENST00000553935 ENST00000556510 ENST00000554268 ENST00000556255
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KHNYN
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate KHNYN (see all 55):
    hsa-miR-3678-3p hsa-miR-3607-3p hsa-let-7d hsa-miR-15a hsa-miR-30d hsa-miR-519a hsa-let-7g hsa-miR-1184
    SwitchGear 3'UTR luciferase reporter plasmidKHNYN 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KHNYN
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    Clone
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    OriGene clones in human, mouse for KHNYN (see all 7)
    OriGene ORF clones in mouse, rat for KHNYN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KHNYN (NM_015299)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KHNYN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KHNYN
    Sirion Biotech Customized lentivirus for stable overexpression of KHNYN 
                         Customized lentivirus expression plasmids for stable overexpression of KHNYN 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KHNYN
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KHNYN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KHNYN

    Additional mRNA sequence: 

    AB002321.1 AK291680.1 BC015780.1 BC042554.1 BX161465.1 

    17 DOTS entries:

    DT.91940952  DT.100651003  DT.100876010  DT.100745164  DT.120753156  DT.319218  DT.120753175  DT.100692655 
    DT.100745165  DT.120753077  DT.92036949  DT.95326679  DT.100764222  DT.100770772  DT.120753170  DT.75174154 
    DT.97855214 

    24/254 AceView cDNA sequences (see all 254):

    BX421353 BC015780 BM693424 BM455115 BC042554 AA343637 AA825446 BU521389 
    CK819377 BU626256 BX161465 AA236912 BM128436 BQ894894 BP428456 C01491 
    AB002321 BM997345 BX382566 BM459365 BQ648386 CA393843 BQ646821 AL601542 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for KHNYN    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c · 4d ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b
    SP1:                          -     -                                                                           
    SP2:                                                                                                            
    SP3:                                                                                                            
    SP4:                    -     -     -                                                                           
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for KHNYN

    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.713590
        SABiosciences Custom PCR Arrays for KHNYN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KHNYN

    (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 animals.

    Orthologs for KHNYN gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Khnyn1 , 5 KH and NYN domain containing1, 5 82.22(n)1
    80.03(a)1
      14 (28.19 cM)5
    2190941  NM_027143.21  NP_081419.11 
     558849695 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    32(a)
    1 → many
    GL343220.1(751412-765283)
    zebrafish
    (Danio rerio)
    Actinopterygii NYNRIN6
    NYN domain and retroviral integrase containing
    27(a)
    1 → many
    7(1506079-1534415)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG423606
    --
    17(a)
    1 → many
    2R(20494812-20498049)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KHNYN gene
    NYNRIN2  ZC3H12C2  N4BP12  ZC3H12B2  ZC3H12D2  ZC3H12A2  
    3 SIMAP similar genes for KHNYN using alignment to 3 protein entries:     KHNYN_HUMAN (see all proteins):
    KIAA0323    ZC3H12D    ZC3H12B

    KHNYN 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

    10/230 SNPs in KHNYN are shown (see all 230)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2018859941,2
    --24900734(+) CTGCAC/GTGCAT 2 H Q mis10--------
    rs2020069651,2
    --24900854(+) TTTGTC/TATGGC 2 V syn10--------
    rs1865267331,2
    C--24900868(+) GAGCCA/G/TGGTAG 3 Q R L mis10--------
    rs1486181401,2
    C,F--24900902(+) TGGGAC/TTTCAC 2 D syn11Minor allele frequency- T:0.00NA 4512
    rs1913822851,2
    C--24900923(+) TCTTCC/TGGAGC 2 S syn10--------
    rs2016324721,2
    C--24900965(+) TCTGCC/GCTGCT 2 A syn11Minor allele frequency- G:0.00EU 1323
    rs2012882501,2
    --24900980(+) TCCCCA/GGGGGA 2 P syn10--------
    rs37425191,2
    C,H--24901076(+) GGGCCA/GGGAGC 2 P syn1 ese35Minor allele frequency- G:0.02EA NS 1874
    rs1866058741,2
    C--24901093(+) TTCTTA/GGGAGG 2 * W stg10--------
    rs1440807451,2
    C--24901101(+) AGGGGC/TGGAGC 2 R W mis11Minor allele frequency- T:0.00NA 4548

    HapMap Linkage Disequilibrium report for KHNYN (24898492 - 24910548 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KHNYN:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482171CNV Loss20164927
    nsv819071CNV Loss19587683

    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing KHNYN
    DNA2.0 Custom Variant and Variant Library Synthesis for KHNYN

    (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 KHNYN:    About MalaCards
    intrahepatic cholangiocarcinoma    cholangiocarcinoma


    KHNYN for disorders           About GeneDecksing

    Genetic Association Database (GAD): KHNYN
    Human Genome Epidemiology (HuGE) Navigator: KHNYN (1 document)

    Export disorders for KHNYN 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 KHNYN gene, integrated from 9 sources (see all 15):
    (articles sorted by number of sources associating them with KHNYN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)1, 4 Flachsbart F....Nebel A. (2010)
    2. The NYN domains: novel predicted RNAses with a PIN do main-like fold. (PubMed id 17114934)1, 3 Anantharaman V. and Aravind L. (2006)
    3. 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)
    4. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    7. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    8. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)
    9. Biological, clinical and population relevance of 95 l oci for blood lipids. (PubMed id 20686565)1 Teslovich T.M....Kathiresan S. (2010)
    10. CGIN1: a retroviral contribution to mammalian genomes . (PubMed id 19561090)1 Marco A. and MarA-n I. (2009)

    (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: 23351 HGNC: 20166 AceView: KIAA0323 Ensembl:ENSG00000100441 euGenes: HUgn23351
    ECgene: KHNYN H-InvDB: KHNYN

    (According to HUGE)
    About This Section
    HUGE: KIAA0323

    (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 KHNYN 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 KHNYN gene:
    Search GeneIP for patents involving KHNYN

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



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    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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