Human Gene MPDZ (uc010mib.3)
  Description: Homo sapiens multiple PDZ domain protein (MPDZ), transcript variant 2, mRNA.
RefSeq Summary (NM_001261406): The protein encoded by this gene has multiple PDZ domains, which are hallmarks of protein-protein interactions. The encoded protein is known to interact with the HTR2C receptor and may cause it to clump at the cell surface. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2015]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr9:13,105,703-13,140,038 Size: 34,336 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg19 chr9:13,106,964-13,140,021 Size: 33,058 Coding Exon Count: 20 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:13,105,703-13,140,038)mRNA (may differ from genome)Protein (775 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblExonPrimerGeneCardsH-INV
HGNCLynxMalacardsMGIPubMedTreefam
UniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: B4DGX5_HUMAN
DESCRIPTION: SubName: Full=cDNA FLJ54743, highly similar to Multiple PDZ domain protein;
SIMILARITY: Contains 6 PDZ (DHR) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): MPDZ
CDC HuGE Published Literature: MPDZ
Positive Disease Associations: alcohol consumption , Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal| , Body Height , Varicose Veins
Related Studies:
  1. alcohol consumption
    Boris Tabakoff , et al. BMC biology 2010 7():70, , BMC biology 2010 7():70. [PubMed 19874574]
  2. Alcohol Withdrawal Seizures|Alcoholism|Disease Models, Animal|
    Victor M Karpyak , et al. Alcoholism, clinical and experimental research 2009 33(4):712-21, Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry., Alcoholism, clinical and experimental research 2009 33(4):712-21. [PubMed 19175764]
    Sequencing of MPDZ gene in individuals with EA ancestry revealed no variations in the sites identical to those associated with AWS in mice.
  3. Body Height
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: MPDZ
Diseases sorted by gene-association score: hydrocephalus, nonsyndromic, autosomal recessive 2* (900), nonsyndromic hydrocephalus, mpdz-related* (500), congenital communicating hydrocephalus* (350), hydrocephalus (9), congenital hydrocephalus (8), leber congenital amaurosis (1)
* = 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
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.73 RPKM in Artery - Tibial
Total median expression: 438.34 RPKM



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

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00170.000 Picture PostScript Text
3' UTR -279.901261-0.222 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
  InterPro Domains: Graphical view of domain structure
IPR001478 - PDZ

Pfam Domains:
PF00595 - PDZ domain (Also known as DHR or GLGF)
PF16667 - Unstructured region 10 on multiple PDZ protein

SCOP Domains:
50156 - PDZ domain-like

ModBase Predicted Comparative 3D Structure on B4DGX5
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 orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK058011 - Homo sapiens cDNA FLJ25282 fis, clone STM06685, highly similar to Rattus norvegicus mRNA for multi PDZ domain protein.
AK098775 - Homo sapiens cDNA FLJ25909 fis, clone CBR04667, highly similar to Homo sapiens multi PDZ domain protein MUPP1 (MUPP1) mRNA.
AB210041 - Homo sapiens mRNA for MPDZ variant protein, clone: pf00482.
AK074721 - Homo sapiens cDNA FLJ90240 fis, clone NT2RM2001126, highly similar to Multiple PDZ domain protein.
AK091945 - Homo sapiens cDNA FLJ34626 fis, clone KIDNE2015433, highly similar to Multiple PDZ domain protein.
AX747271 - Sequence 796 from Patent EP1308459.
CR936648 - Homo sapiens mRNA; cDNA DKFZp781P216 (from clone DKFZp781P216).
AK307988 - Homo sapiens cDNA, FLJ97936.
AJ001319 - Homo sapiens mRNA for multi PDZ domain protein.
AF093419 - Homo sapiens multi PDZ domain protein MUPP1 (MUPP1) mRNA, complete cds.
AK294976 - Homo sapiens cDNA FLJ54707 complete cds, highly similar to Multiple PDZ domain protein.
BC140793 - Homo sapiens multiple PDZ domain protein, mRNA (cDNA clone MGC:176470 IMAGE:9021661), complete cds.
BC144564 - Homo sapiens multiple PDZ domain protein, mRNA (cDNA clone MGC:178109 IMAGE:9053092), complete cds.
AK294823 - Homo sapiens cDNA FLJ54743 complete cds, highly similar to Multiple PDZ domain protein.
AK316489 - Homo sapiens cDNA, FLJ79388 complete cds, highly similar to Multiple PDZ domain protein.
BC172387 - Synthetic construct Homo sapiens clone IMAGE:100069081, MGC:199092 multiple PDZ domain protein (MPDZ) mRNA, encodes complete protein.
AB384682 - Synthetic construct DNA, clone: pF1KB0065, Homo sapiens MPDZ gene for multiple PDZ domain protein, complete cds, without stop codon, in Flexi system.
JD310628 - Sequence 291652 from Patent EP1572962.
JD502567 - Sequence 483591 from Patent EP1572962.
JD548764 - Sequence 529788 from Patent EP1572962.
JD503483 - Sequence 484507 from Patent EP1572962.
JD126506 - Sequence 107530 from Patent EP1572962.
JD268116 - Sequence 249140 from Patent EP1572962.
AK307924 - Homo sapiens cDNA, FLJ97872.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04530 - Tight junction

-  Other Names for This Gene
  Alternate Gene Symbols: AK294823, B4DGX5, B4DGX5_HUMAN
UCSC ID: uc010mib.3
RefSeq Accession: NM_001261406
Protein: B4DGX5

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK294823.1
exon count: 20CDS single in 3' UTR: no RNA size: 2379
ORF size: 2328CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 4743.00frame shift in genome: no % Coverage: 99.83
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: 0# 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.