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HYDIN Gene

protein-coding   GIFtS: 50
GCID: GC16M070842

HYDIN, Axonemal Central Pair Apparatus Protein

(Previous names: hydrocephalus inducing, hydrocephalus inducing homolog (mouse))
  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)
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Aliases
HYDIN, Axonemal Central Pair Apparatus Protein1 2     Regulatory Subunit 311
HYDIN12 3 5     HYDIN22
CILD52 5     PPP1R312
Hydrocephalus Inducing1     Hydrocephalus-Inducing Protein Homolog2
Hydrocephalus Inducing Homolog (Mouse)1     Protein Phosphatase 1, Regulatory Subunit 312
Protein Phosphatase 11     KIAA18643

External Ids:    HGNC: 193681   Entrez Gene: 547682   Ensembl: ENSG000001574237   OMIM: 6108125   UniProtKB: Q4G0P33   

Export aliases for HYDIN gene to outside databases

Previous GC identifers: GC16M070576 GC16M070617 GC16M069576 GC16M069618 GC16M069400


(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 HYDIN Gene:
This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal
recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid
within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1.
(provided by RefSeq, Jan 2013)

GeneCards Summary for HYDIN Gene:
HYDIN (HYDIN, axonemal central pair apparatus protein) is a protein-coding gene. Diseases associated with HYDIN include primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia, and ciliary dyskinesia, primary, 5. An important paralog of this gene is ENSG00000215642.

UniProtKB/Swiss-Prot: HYDIN_HUMAN, Q4G0P3
Function: Required for ciliary motility (By similarity)




(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:
NC_000016.10  NT_010498.16  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the HYDIN gene promoter:
         CHOP-10   IRF-7A   CUTL1   LyF-1   C/EBPalpha   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHYDIN promoter sequence
   Search Chromatin IP Primers for HYDIN

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


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

Entrez Gene cytogenetic band: 16q22.2   Ensembl cytogenetic band:  16q22.2   HGNC cytogenetic band: 16q22.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M070842:  view genomic region     (about GC identifiers)

Start:
70,841,281 bp from pter      End:
71,264,625 bp from pter
Size:
423,345 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HYDIN_HUMAN, Q4G0P3 (See protein sequence)
Recommended Name: Hydrocephalus-inducing protein homolog  
Size: 5121 amino acids; 575892 Da
Sequence caution: Sequence=AAH28351.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Sequence=BAB15527.1; Type=Frameshift; Positions=4804;
2 PDB 3D structures from and Proteopedia for HYDIN:
2E6J (3D)        2YS4 (3D)    
Secondary accessions: A6NC70 A6NLZ0 B4DQY4 B4DRN4 F5H6V3 Q8N3H8 Q8N3P6 Q8TC08 Q96JG3 Q96SS4
Q9H5U3 Q9H9B8 Q9NTI0 Q9UBE5
Alternative splicing: 6 isoforms:  Q4G0P3-1   Q4G0P3-2   Q4G0P3-5   Q4G0P3-6   Q4G0P3-8   Q4G0P3-10   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HYDIN: NX_Q4G0P3

Explore proteomics data for HYDIN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001185471.1  NP_001185472.1  NP_001257903.1  NP_060028.2  

    ENSEMBL proteins: 
     ENSP00000377197   ENSP00000463350   ENSP00000462711   ENSP00000463767   ENSP00000462031  
     ENSP00000463093   ENSP00000314736   ENSP00000444970   ENSP00000463422   ENSP00000437341  
     ENSP00000288168   ENSP00000446122   ENSP00000437598   ENSP00000443525   ENSP00000440202  
     ENSP00000398544   ENSP00000394826   ENSP00000377181  

    HYDIN Human Recombinant Protein Products:

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    HYDIN Antibody Products:

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    Search for Antibodies for HYDIN at Abcam
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    Search LSBio for Antibodies for HYDIN

    HYDIN Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for HYDIN
    Cloud-Clone Corp. CLIAs for HYDIN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PPP1R: Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits

    1 InterPro protein domain:
     IPR008962 PapD-like

    Graphical View of Domain Structure for InterPro Entry Q4G0P3

    ProtoNet protein and cluster: Q4G0P3


    HYDIN 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: HYDIN_HUMAN, Q4G0P3
    Function: Required for ciliary motility (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
         
    HYDIN for ontologies           About GeneDecksing


    Phenotypes:
         12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Hydin):
     behavior/neurological  cardiovascular system  craniofacial  growth/size/body  hematopoietic system 
     immune system  mortality/aging  muscle  nervous system  reproductive system 
     respiratory system  skeleton 

    HYDIN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HYDIN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HYDIN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HYDIN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HYDIN

    miRNA
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    Block miRNA regulation of human, mouse, rat HYDIN using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate HYDIN:
    hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidHYDIN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for HYDIN
    Predesigned siRNA for gene silencing in human, mouse, rat HYDIN

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for HYDIN

    Clone
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    OriGene clones in human, mouse for HYDIN (see all 12)
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    GenScript: all cDNA clones in your preferred vector (see all 4): HYDIN (NM_001198542)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HYDIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYDIN

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for HYDIN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYDIN


    (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
    HYDIN_HUMAN, Q4G0P3: Cell projection, cilium (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton1
    cytosol1
    extracellular1
    mitochondrion1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005929cilium IEA--

    HYDIN for ontologies           About GeneDecksing


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

        Search GeneGlobe Interaction Network for HYDIN

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

    1 Interacting protein for HYDIN (ENSP000003771974) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PPP1CAENSP000003260314STRING: ENSP00000326031
    About this table

    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HYDIN



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for HYDIN gene (5 alternative transcripts): 
    NM_001198542.1  NM_001198543.1  NM_001270974.1  NM_017558.4  NM_032821.2  

    Unigene Cluster for HYDIN:

    HYDIN, axonemal central pair apparatus protein
    Hs.461229  [show with all ESTs]
    Unigene Representative Sequence: NM_001270974
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000393567(uc002ezr.3) ENST00000378856(uc010cfy.3) ENST00000542283
    ENST00000546257 ENST00000309900 ENST00000543521 ENST00000546297 ENST00000393552
    ENST00000538568 ENST00000539447 ENST00000321489(uc021tkq.1) ENST00000538248(uc010vmc.2 uc010vmd.2)
    ENST00000545230 ENST00000540892 ENST00000541601 ENST00000288168(uc002ezw.4)
    ENST00000542890 ENST00000543639
    miRNA
    Products:
         
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    1 qRT-PCR Assays for microRNA that regulate HYDIN:
    hsa-miR-500a
    SwitchGear 3'UTR luciferase reporter plasmidHYDIN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for HYDIN
    Predesigned siRNA for gene silencing in human, mouse, rat HYDIN
    Clone
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    OriGene clones in human, mouse for HYDIN (see all 12)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): HYDIN (NM_001198542)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HYDIN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HYDIN
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for HYDIN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HYDIN
      QuantiTect SYBR Green Assays in human, mouse, rat HYDIN
      QuantiFast Probe-based Assays in human, mouse, rat HYDIN

    Additional mRNA sequence: 

    AK022933.1 AK299016.1 AK299348.1 AK308296.1 AL122038.1 AL133042.1 BC028351.1 

    13 DOTS entries:

    DT.432774  DT.40112854  DT.95069683  DT.40310687  DT.95241853  DT.91656895  DT.95156434  DT.100018487 
    DT.100663492  DT.120723170  DT.75197703  DT.95320484  DT.97805490 

    22 AceView cDNA sequences:

    AK074472 AI564238 CA440183 CB851954 BC043273 BX106147 AL137259 AI829538 
    CD358133 N50787 AI809964 BU854299 AI693696 BG928962 AK026688 BI560655 
    AW292266 AI824393 BE935729 AI693718 BE935732 CB852076 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for HYDIN (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b ^
    SP1:                                                                          -                 -                             -                             -   
    SP2:                                                                          -                 -                             -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 19 ^ 20a · 20b ^ 21a · 21b ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25 ^ 26
    SP1:        -                                   -                                 
    SP2:                                                                              
    SP3:                                            -     -     -     -               
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for HYDIN

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


    HYDIN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Adipose (Muscoskeletal System)
             Mesenchymal Stem Cells Subcutaneous White Adipose
     
     Mesenchymal Stem Cells
             Mesenchymal Stem Cells Subcutaneous White Adipose
    HYDIN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HYDIN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.461229
        Custom PCR Arrays for HYDIN
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HYDIN

    (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 chordates.

    Orthologs for HYDIN gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hydin1 , 5 HYDIN, axonemal central pair apparatus protein1, 5 80.78(n)1
    78.05(a)1
      8 (57.50 cM)5
    2446531  NM_172916.21  NP_766504.31 
     1102669775 
    chicken
    (Gallus gallus)
    Aves HYDIN1 HYDIN, axonemal central pair apparatus protein 61.61(n)
    53.63(a)
      427538  NM_001159371.1  NP_001152843.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    59(a)
    1 → many
    GL343539.1(229426-294972)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia hydin1 HYDIN, axonemal central pair apparatus protein 58.62(n)
    53.5(a)
      100145658  XM_002931686.2  XP_002931732.2 
    zebrafish
    (Danio rerio)
    Actinopterygii hydin1 HYDIN, axonemal central pair apparatus protein 54.69(n)
    45.89(a)
      557988  NM_001114415.2  NP_001107887.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for HYDIN gene
    ENSG000002156422  ENSG000002342952  

    HYDIN for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for HYDIN
    PGOHUM00000244958 PGOHUM00000238085 PGOHUM00000241930


    (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 HYDIN (see all 8424)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs748617331,2
    Cuntested171960527(+) TCTCCG/ATGCGC 2 /T /M mis11Minor allele frequency- A:0.50NA 2
    rs763356881,2
    Cuntested171960528(+) CTCCGG/TGCGCT 2 T P mis11Minor allele frequency- T:0.50NA 2
    rs580004871,2
    C--70851833(+) GAGATG/-GGGGT 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs1119928561,2
    C--70855523(+) TTTTCTCTTTA/-
            
    TCTTT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs2020045591,2
    C--70855530(-) ACAAAA/GATAAA 1 -- int10--------
    rs745680301,2
    --70860636(+) TCTCTG/CTCTCT 1 -- int11Minor allele frequency- C:0.50NA 2
    rs562686401,2
    C,F--70860648(+) TCTCTG/CTGTGT 1 -- int13Minor allele frequency- C:0.50WA CSA 6
    rs2011456651,2
    C--70873882(-) CAAGAA/CAAAAA 1 -- int10--------
    rs799605921,2
    F--70898250(+) AAAAAC/AAAAAA 1 -- int11Minor allele frequency- A:0.50NA 4
    rs1401853151,2
    C--70904330(+) AGGGA-/CCCCCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for HYDIN (70841281 - 71091281 bp, first 250kb of HYDIN)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HYDIN (see all 44):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2714676CNV Deletion23290073
    esv2190080CNV Deletion18987734
    esv2714674CNV Deletion23290073
    esv2603903CNV Deletion19546169
    esv2714677CNV Deletion23290073
    esv2539613CNV Deletion19546169
    esv1000229CNV Deletion20482838
    esv1000045CNV Deletion20482838
    esv2714675CNV Deletion23290073
    esv2714679CNV Deletion23290073

    Human Gene Mutation Database (HGMD): HYDIN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing HYDIN
    DNA2.0 Custom Variant and Variant Library Synthesis for HYDIN

    (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: 610812   
    OMIM disorders: 608647  
    UniProtKB/Swiss-Prot: HYDIN_HUMAN, Q4G0P3
  • Ciliary dyskinesia, primary, 5 (CILD5) [MIM:608647]: An autosomal recessive form of primary dyskinesia, a
    disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation
    and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in
    male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body
    asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia
    associated with situs inversus is referred to as Kartagener syndrome. CILD5 is characterized by early onset of a
    progressive decline in lung function due to an inability to clear mucus and particles from the airways. Affected
    individuals have recurrent infections of the sinuses, ears, airways, and lungs. Sperm motility is also decreased.
    Individuals with CILD5 do not have situs inversus. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 12 diseases for HYDIN:    
    About MalaCards
    primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia    ciliary dyskinesia, primary, 5    hydrocephalus    ciliary dyskinesia, primary, 19
    primary ciliary dyskinesia    oculocerebrorenal syndrome    kartagener syndrome    situs inversus
    bronchiectasis    sinusitis    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for HYDIN:
    Hydrocephalus     Oculocerebrorenal syndrome

    HYDIN for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for HYDIN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hydrocephalus 68.3 5 17296793 (1), 16443634 (1), 17394468 (1), 17683645 (1)

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

    Export disorders for HYDIN 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 HYDIN gene, integrated from 10 sources (see all 22):
    (articles sorted by number of sources associating them with HYDIN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (PubMed id 23022101)1, 2, 3 Olbrich H....Omran H. (Am. J. Hum. Genet. 2012)
    2. A 360-kb interchromosomal duplication of the human HYDIN locus. (PubMed id 16938426)1, 2, 9 Doggett N.A.... Han C. (Genomics 2006)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene. (PubMed id 12719380)1, 3 Davy B.E. and Robinson M.L. (Hum. Mol. Genet. 2003)
    6. Hydin seek: finding a function in ciliary motility. (PubMed id 17296793)2, 9 Smith E.F. (J. Cell Biol. 2007)
    7. Why do cellular proteins linked to K63-polyubiquitin chains not associate with proteasomes? (PubMed id 23314748)1 Nathan J.A....Goldberg A.L. (EMBO J. 2013)
    8. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PubMed id 23936387)1 A9stensson M....Torinsson-Naluai A.8. (PLoS ONE 2013)
    9. Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease. (PubMed id 23144326)1 Kim D.K....Silverman E.K. (Am. J. Respir. Crit. Care Med. 2012)
    10. Docking motif-guided mapping of the interactome of protein phosphatase-1. (PubMed id 19389623)1 Hendrickx A.... Bollen M. (Chem. Biol. 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: 54768 HGNC: 19368 AceView: HYDIN.1 Ensembl:ENSG00000157423 euGenes: HUgn54768
    ECgene: HYDIN H-InvDB: HYDIN

    (According to HUGE)
    About This Section

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    HUGE: KIAA1864

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HYDIN Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for HYDIN 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 HYDIN gene:
    Search GeneIP for patents involving HYDIN

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



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