Human Gene HYDIN (uc010vmd.2) Description and Page Index
  Description: Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 3, mRNA.
RefSeq Summary (NM_001198542): 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].
Transcript (Including UTRs)
   Position: hg19 chr16:71,065,314-71,264,625 Size: 199,312 Total Exon Count: 19 Strand: -
Coding Region
   Position: hg19 chr16:71,065,578-71,264,590 Size: 199,013 Coding Exon Count: 19 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesGeneReviewsModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:71,065,314-71,264,625)mRNA (may differ from genome)Protein (950 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsH-INV
HGNCLynxMGIOMIMPubMedStanford SOURCE
UniProtKB

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HYDIN
CDC HuGE Published Literature: HYDIN

-  MalaCards Disease Associations
  MalaCards Gene Search: HYDIN
Diseases sorted by gene-association score: ciliary dyskinesia, primary, 5* (919), ciliary dyskinesia, primary, 1, with or without situs inversus* (283), primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia* (100), kartagener syndrome* (94), hydrocephalus (24), communicating hydrocephalus (11), primary ciliary dyskinesia (7), congenital hydrocephalus (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 4.06 RPKM in Testis
Total median expression: 30.34 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -10.1035-0.289 Picture PostScript Text
3' UTR -49.10264-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  Pfam Domains:
PF00635 - MSP (Major sperm protein) domain
PF14874 - Flagellar-associated PapD-like
PF15780 - Abnormal spindle-like microcephaly-assoc'd, ASPM-SPD-2-Hydin

ModBase Predicted Comparative 3D Structure on Q4G0P3-8
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK308296 - Homo sapiens cDNA, FLJ98244.
AK022933 - Homo sapiens cDNA FLJ12871 fis, clone NT2RP2003751.
AK299016 - Homo sapiens cDNA FLJ57848 complete cds, highly similar to Homo sapiens hydrocephalus inducing (HYDIN), mRNA.
AK299348 - Homo sapiens cDNA FLJ56907 complete cds, highly similar to Homo sapiens hydrocephalus inducing (HYDIN), mRNA.
BC028351 - Homo sapiens hydrocephalus inducing homolog (mouse), mRNA (cDNA clone IMAGE:4837075), partial cds.
KJ902682 - Synthetic construct Homo sapiens clone ccsbBroadEn_12076 HYDIN gene, encodes complete protein.
AL122038 - Homo sapiens mRNA; cDNA DKFZp434I0850 (from clone DKFZp434I0850).
AL133042 - Homo sapiens mRNA; cDNA DKFZp434L0850 (from clone DKFZp434L0850).
AK057467 - Homo sapiens cDNA FLJ32905 fis, clone TESTI2005692.
JD303078 - Sequence 284102 from Patent EP1572962.
JD301470 - Sequence 282494 from Patent EP1572962.
LF208314 - JP 2014500723-A/15817: Polycomb-Associated Non-Coding RNAs.
MA443891 - JP 2018138019-A/15817: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: HYDIN1, KIAA1864, NM_001198542, NP_001185471, Q4G0P3-8
UCSC ID: uc010vmd.2
RefSeq Accession: NM_001198542
Protein: Q4G0P3-8, splice isoform of Q4G0P3 CCDS: CCDS56004.1, CCDS56005.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HYDIN:
pcd (Primary Ciliary Dyskinesia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001198542.1
exon count: 19CDS single in 3' UTR: no RNA size: 3152
ORF size: 2853CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 5825.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 268# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.