Human Gene PCDH10 (uc003iha.3)
  Description: Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.
RefSeq Summary (NM_032961): This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015].
Transcript (Including UTRs)
   Position: hg19 chr4:134,070,470-134,112,732 Size: 42,263 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr4:134,071,296-134,111,315 Size: 40,020 Coding Exon Count: 5 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr4:134,070,470-134,112,732)mRNA (may differ from genome)Protein (1040 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PCD10_HUMAN
DESCRIPTION: RecName: Full=Protocadherin-10; Flags: Precursor;
FUNCTION: Potential calcium-dependent cell-adhesion protein.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (By similarity).
TISSUE SPECIFICITY: Moderately expressed in all regions of the brain examined, as well as in testis and ovary, and low expression in all other tissues tested.
SIMILARITY: Contains 6 cadherin domains.
SEQUENCE CAUTION: Sequence=BAA92638.1; Type=Erroneous initiation;

-  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): PCDH10
CDC HuGE Published Literature: PCDH10
Positive Disease Associations: Bone Density , Coronary Artery Disease , Fibrinogen , Hemoglobins , Lipoproteins, VLDL , Maximal Midexpiratory Flow Rate , Receptors, Tumor Necrosis Factor , Respiratory Function Tests
Related Studies:
  1. Bone Density
    Douglas P Kiel et al. BMC medical genetics 2007, Genome-wide association with bone mass and geometry in the Framingham Heart Study., BMC medical genetics. [PubMed 17903296]
    The FHS 100K SNP project offers an unbiased genome-wide strategy to identify new candidate loci and to replicate previously suggested candidate genes for osteoporosis.
  2. Coronary Artery Disease
    , , . [PubMed 0]
  3. Fibrinogen
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: PCDH10
Diseases sorted by gene-association score: epileptic encephalopathy, early infantile, 9 (13), epileptic encephalopathy, early infantile, 6 (6), infancy electroclinical syndrome (5)

-  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: 14.27 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 134.43 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 -248.71826-0.301 Picture PostScript Text
3' UTR -307.481417-0.217 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
IPR002126 - Cadherin
IPR015919 - Cadherin-like
IPR020894 - Cadherin_CS
IPR013164 - Cadherin_N

Pfam Domains:
PF00028 - Cadherin domain
PF08266 - Cadherin-like
PF16492 - Cadherin cytoplasmic C-terminal

SCOP Domains:
49313 - Cadherin-like

ModBase Predicted Comparative 3D Structure on Q9P2E7
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005509 calcium ion binding

Biological Process:
GO:0007155 cell adhesion
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007267 cell-cell signaling
GO:0007399 nervous system development

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AB384200 - Synthetic construct DNA, clone: pF1KSDA1400, Homo sapiens PCDH10 gene for protocadherin-10 precursor, complete cds, without stop codon, in Flexi system.
AB037821 - Homo sapiens KIAA1400 mRNA for KIAA1400 protein.
BC111560 - Homo sapiens protocadherin 10, mRNA (cDNA clone MGC:133344 IMAGE:40068151), complete cds.
KJ534913 - Homo sapiens clone PCDH10_iso-A_adult-A11 protocadherin 10 isoform A (PCDH10) mRNA, partial cds, alternatively spliced.
KJ534914 - Homo sapiens clone PCDH10_iso-B_fetal-F03 protocadherin 10 isoform B (PCDH10) mRNA, partial cds, alternatively spliced.
KJ899351 - Synthetic construct Homo sapiens clone ccsbBroadEn_08745 PCDH10 gene, encodes complete protein.
AK024636 - Homo sapiens cDNA: FLJ20983 fis, clone CAE00821.
AL157470 - Homo sapiens mRNA; cDNA DKFZp761O2023 (from clone DKFZp761O2023).
JD107752 - Sequence 88776 from Patent EP1572962.
AY013874 - Homo sapiens protocadherin 10 (PCDH10) mRNA, complete cds.
JD436723 - Sequence 417747 from Patent EP1572962.
JD468963 - Sequence 449987 from Patent EP1572962.
JD339360 - Sequence 320384 from Patent EP1572962.
JD330870 - Sequence 311894 from Patent EP1572962.
JD499245 - Sequence 480269 from Patent EP1572962.
JD342721 - Sequence 323745 from Patent EP1572962.
JD409645 - Sequence 390669 from Patent EP1572962.
JD305805 - Sequence 286829 from Patent EP1572962.
JD333813 - Sequence 314837 from Patent EP1572962.
JD556062 - Sequence 537086 from Patent EP1572962.
JD164680 - Sequence 145704 from Patent EP1572962.
JD261344 - Sequence 242368 from Patent EP1572962.
JD165178 - Sequence 146202 from Patent EP1572962.
JD500740 - Sequence 481764 from Patent EP1572962.
AK314377 - Homo sapiens cDNA, FLJ95150, Homo sapiens protocadherin 10 (PCDH10), transcript variant 2, mRNA.
JD436609 - Sequence 417633 from Patent EP1572962.
JD345095 - Sequence 326119 from Patent EP1572962.
JD043002 - Sequence 24026 from Patent EP1572962.
JD214575 - Sequence 195599 from Patent EP1572962.
JD186950 - Sequence 167974 from Patent EP1572962.
JD305626 - Sequence 286650 from Patent EP1572962.
JD039969 - Sequence 20993 from Patent EP1572962.
JD369751 - Sequence 350775 from Patent EP1572962.
JD253387 - Sequence 234411 from Patent EP1572962.
JD389756 - Sequence 370780 from Patent EP1572962.
JD510720 - Sequence 491744 from Patent EP1572962.
JD513283 - Sequence 494307 from Patent EP1572962.
JD306120 - Sequence 287144 from Patent EP1572962.
JD349585 - Sequence 330609 from Patent EP1572962.
JD148025 - Sequence 129049 from Patent EP1572962.
JD292120 - Sequence 273144 from Patent EP1572962.
JD063837 - Sequence 44861 from Patent EP1572962.
JD353514 - Sequence 334538 from Patent EP1572962.
JD082825 - Sequence 63849 from Patent EP1572962.
JD101421 - Sequence 82445 from Patent EP1572962.
JD548970 - Sequence 529994 from Patent EP1572962.
JD507040 - Sequence 488064 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA1400, NM_032961, NP_116586, PCD10_HUMAN, Q4W5F6, Q9P2E7
UCSC ID: uc003iha.3
RefSeq Accession: NM_032961
Protein: Q9P2E7 (aka PCD10_HUMAN or PC10_HUMAN)
CCDS: CCDS34063.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_032961.1
exon count: 5CDS single in 3' UTR: no RNA size: 5384
ORF size: 3123CDS single in intron: no Alignment % ID: 99.96
txCdsPredict score: 5019.50frame shift in genome: no % Coverage: 99.67
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.