Human Gene PCDH11X (ENST00000406881.3) from GENCODE V44
  Description: Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant e, mRNA. (from RefSeq NM_001168360)
RefSeq Summary (NM_001168360): This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 7 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene is located in a major X/Y block of homology and its Y homolog, despite divergence leading to coding region changes, is the most closely related cadherin family member. The protein is thought to play a fundamental role in cell-cell recognition essential for the segmental development and function of the central nervous system. Disruption of this gene may be associated with developmental dyslexia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014].
Gencode Transcript: ENST00000406881.3
Gencode Gene: ENSG00000102290.23
Transcript (Including UTRs)
   Position: hg38 chrX:91,835,505-92,619,076 Size: 783,572 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg38 chrX:91,835,505-92,618,940 Size: 783,436 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:91,835,505-92,619,076)mRNA (may differ from genome)Protein (1339 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PC11X_HUMAN
DESCRIPTION: RecName: Full=Protocadherin-11 X-linked; Short=Protocadherin-11; AltName: Full=Protocadherin on the X chromosome; Short=PCDH-X; AltName: Full=Protocadherin-S; Flags: Precursor;
FUNCTION: Potential calcium-dependent cell-adhesion protein.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein (Potential).
TISSUE SPECIFICITY: Expressed strongly in fetal brain and brain (cortex, amygdala, thalamus, substantia nigra, hippocampus, caudate nucleus and corpus callosum). Expressed at low level in testis.
SIMILARITY: Contains 7 cadherin 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


-  MalaCards Disease Associations
  MalaCards Gene Search: PCDH11X
Diseases sorted by gene-association score: dyslexia (14), schizoaffective disorder (8), spherocytosis, type 5 (5), usher syndrome, type 1b (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 1.80 RPKM in Brain - Nucleus accumbens (basal ganglia)
Total median expression: 8.76 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
3' UTR -14.00136-0.103 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
IPR013585 - Protocadherin

Pfam Domains:
PF00028 - Cadherin domain
PF08266 - Cadherin-like
PF08374 - Protocadherin

ModBase Predicted Comparative 3D Structure on Q9BZA7
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-  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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  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:0010923 negative regulation of phosphatase activity

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
  LP896569 - Sequence 1433 from Patent EP3253886.
AF332218 - Homo sapiens chromosome X protocadherin 11 (PCDH11) mRNA, complete cds, alternatively spliced.
AF332219 - Homo sapiens chromosome X protocadherin 11 (PCDH11) mRNA, complete cds, alternatively spliced.
BC167817 - Synthetic construct Homo sapiens clone IMAGE:100068207, MGC:195824 protocadherin 11 X-linked (PCDH11X) mRNA, encodes complete protein.
AF206516 - Homo sapiens protocadherin-S mRNA, complete cds.
AF217288 - Homo sapiens protocadherin-S mRNA, complete cds, alternatively spliced.
AY861432 - Homo sapiens protocadherin 11X isoform 8 (PCDH11X) mRNA, complete cds, alternatively spliced.
AY861433 - Homo sapiens protocadherin 11X isoform 7 (PCDH11X) mRNA, complete cds, alternatively spliced.
AY861434 - Homo sapiens protocadherin 11X isoform 6 (PCDH11X) mRNA, complete cds, alternatively spliced.
AY861435 - Homo sapiens protocadherin 11X isoform 5 (PCDH11X) mRNA, partial cds, alternatively spliced.
AB037747 - Homo sapiens mRNA for KIAA1326 protein, partial cds.
AJ276804 - Homo sapiens mRNA for protocadherin (PCDHX gene).
AK299813 - Homo sapiens cDNA FLJ56943 partial cds, highly similar to Protocadherin-11 X-linked precursor.
AK316263 - Homo sapiens cDNA, FLJ79162 partial cds, highly similar to Protocadherin-11 X-linked precursor.
AK299638 - Homo sapiens cDNA FLJ61367 complete cds, highly similar to Protocadherin-11 X-linked precursor.
AJ564932 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 4.1.
AB026187 - Homo sapiens PCDH-X mRNA for protocadherin-Xa, complete cds.
AJ564931 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 4.
AJ564935 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 5.2.
AJ564936 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 5.3.
AJ564933 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 5.
AJ564934 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 5.1.
U79247 - Human clone 23599 mRNA sequence.
AJ564939 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 7.1.
AJ564938 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 7.
AJ564940 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 8.
AJ564943 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 9.1.
AJ564942 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 9.
AJ564945 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 11.
AJ564946 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 11.1.
AJ564947 - Homo sapiens mRNA for protocadherin (PCDHX gene), exon 11.2.

-  Other Names for This Gene
  Alternate Gene Symbols: A6NIQ4, ENST00000406881.1, ENST00000406881.2, KIAA1326, NM_001168360, PC11X_HUMAN, PCDH11, PCDHX, Q2TJH0, Q2TJH1, Q2TJH3, Q5JVZ0, Q70LR8, Q70LS7, Q70LS8, Q70LS9, Q70LT7, Q70LT8, Q70LT9, Q70LU0, Q70LU1, Q96RV4, Q96RW0, Q9BZA6, Q9BZA7, Q9H4E0, Q9P2M0, Q9P2X5, uc004efm.1, uc004efm.2, uc004efm.3
UCSC ID: ENST00000406881.3
RefSeq Accession: NM_001168360
Protein: Q9BZA7 (aka PC11X_HUMAN)
CCDS: CCDS14461.1, CCDS14462.1, CCDS55459.1, CCDS55460.1, CCDS55461.1

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