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Aliases for PCDH11X Gene

Aliases for PCDH11X Gene

  • Protocadherin 11 X-Linked 2 3 5
  • Protocadherin On The X Chromosome 3 4
  • Protocadherin-S 3 4
  • PCDH11 3 4
  • PCDH-X 3 4
  • PCDHX 3 4
  • Protein Phosphatase 1, Regulatory Subunit 119 3
  • Regulatory Subunit 119 2
  • Protein Phosphatase 1 2
  • Protocadherin 11X 3
  • Protocadherin 11 2
  • Protocadherin-11 4
  • PPP1R119 3
  • KIAA1326 4

External Ids for PCDH11X Gene

Previous HGNC Symbols for PCDH11X Gene

  • PCDH11

Previous GeneCards Identifiers for PCDH11X Gene

  • GC0XP086306
  • GC0XP088003
  • GC0XP089070
  • GC0XP089806
  • GC0XP090840
  • GC0XP090920
  • GC0XP091034

Summaries for PCDH11X Gene

Entrez Gene Summary for PCDH11X Gene

  • 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]

GeneCards Summary for PCDH11X Gene

PCDH11X (Protocadherin 11 X-Linked) is a Protein Coding gene. Diseases associated with PCDH11X include Dyslexia. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH20.

UniProtKB/Swiss-Prot for PCDH11X Gene

  • Potential calcium-dependent cell-adhesion protein.

Gene Wiki entry for PCDH11X Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDH11X Gene

Genomics for PCDH11X Gene

Regulatory Elements for PCDH11X Gene


Genomic Location for PCDH11X Gene

Chromosome:
X
Start:
91,779,261 bp from pter
End:
92,623,230 bp from pter
Size:
843,970 bases
Orientation:
Plus strand

Genomic View for PCDH11X Gene

Genes around PCDH11X on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH11X Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH11X Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH11X Gene

Proteins for PCDH11X Gene

  • Protein details for PCDH11X Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZA7-PC11X_HUMAN
    Recommended name:
    Protocadherin-11 X-linked
    Protein Accession:
    Q9BZA7
    Secondary Accessions:
    • A6NIQ4
    • Q2TJH0
    • Q2TJH1
    • Q2TJH3
    • Q5JVZ0
    • Q70LR8
    • Q70LS7
    • Q70LS8
    • Q70LS9
    • Q70LT7
    • Q70LT8
    • Q70LT9
    • Q70LU0
    • Q70LU1
    • Q96RV4
    • Q96RW0
    • Q9BZA6
    • Q9H4E0
    • Q9P2M0
    • Q9P2X5

    Protein attributes for PCDH11X Gene

    Size:
    1347 amino acids
    Molecular mass:
    147558 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDH11X Gene

neXtProt entry for PCDH11X Gene

Proteomics data for PCDH11X Gene at MOPED

Post-translational modifications for PCDH11X Gene

  • Glycosylation at Asn 27, Asn 48, Asn 54, Asn 344, Asn 553, Asn 773, and Thr 856
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PCDH11X Gene

Domains & Families for PCDH11X Gene

Protein Domains for PCDH11X Gene

Suggested Antigen Peptide Sequences for PCDH11X Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZA7

UniProtKB/Swiss-Prot:

PC11X_HUMAN :
  • Contains 7 cadherin domains.
Domain:
  • Contains 7 cadherin domains.
genes like me logo Genes that share domains with PCDH11X: view

Function for PCDH11X Gene

Molecular function for PCDH11X Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein.
genes like me logo Genes that share phenotypes with PCDH11X: view

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH11X Gene

Localization for PCDH11X Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH11X Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDH11X Gene COMPARTMENTS Subcellular localization image for PCDH11X gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 2

Gene Ontology (GO) - Cellular Components for PCDH11X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDH11X: view

Pathways & Interactions for PCDH11X Gene

SuperPathways for PCDH11X Gene

No Data Available

Interacting Proteins for PCDH11X Gene

Gene Ontology (GO) - Biological Process for PCDH11X Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010923 negative regulation of phosphatase activity IDA 19389623
genes like me logo Genes that share ontologies with PCDH11X: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH11X Gene

Drugs & Compounds for PCDH11X Gene

(1) Drugs for PCDH11X Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
genes like me logo Genes that share compounds with PCDH11X: view

Transcripts for PCDH11X Gene

Unigene Clusters for PCDH11X Gene

Protocadherin 11 X-linked:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH11X Gene

No ASD Table

Relevant External Links for PCDH11X Gene

GeneLoc Exon Structure for
PCDH11X
ECgene alternative splicing isoforms for
PCDH11X

Expression for PCDH11X Gene

mRNA expression in normal human tissues for PCDH11X Gene

mRNA differential expression in normal tissues according to GTEx for PCDH11X Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x9.7), Brain - Hypothalamus (x5.5), Brain - Caudate (basal ganglia) (x4.3), Brain - Amygdala (x4.3), and Brain - Putamen (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for PCDH11X Gene

This gene is overexpressed in Breast (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDH11X Gene



SOURCE GeneReport for Unigene cluster for PCDH11X Gene Hs.655673

mRNA Expression by UniProt/SwissProt for PCDH11X Gene

Q9BZA7-PC11X_HUMAN
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.
genes like me logo Genes that share expression patterns with PCDH11X: view

Protein tissue co-expression partners for PCDH11X Gene

Primer Products

Orthologs for PCDH11X Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDH11X Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC538674 35
  • 87.78 (n)
  • 84.65 (a)
-- 36
  • 86 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PCDH11X 35
  • 86.17 (n)
  • 81.31 (a)
-- 36
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pcdh11x 35
  • 84.7 (n)
  • 83.35 (a)
Pcdh11x 16
Pcdh11x 36
  • 81 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia LOC100611190 35
  • 99.01 (n)
  • 98.52 (a)
PCDH11X 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdh11x 35
  • 84.37 (n)
  • 83.3 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 58 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 71 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC422264 35
  • 72.52 (n)
  • 72.46 (a)
-- 36
  • 72 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 71 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493938 35
  • 69.28 (n)
  • 69.64 (a)
zebrafish
(Danio rerio)
Actinopterygii pcdh11 35
  • 66.19 (n)
  • 66.13 (a)
PCDH11Y 36
  • 66 (a)
OneToMany
Species with no ortholog for PCDH11X:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDH11X Gene

ENSEMBL:
Gene Tree for PCDH11X (if available)
TreeFam:
Gene Tree for PCDH11X (if available)

Paralogs for PCDH11X Gene

Paralogs for PCDH11X Gene

genes like me logo Genes that share paralogs with PCDH11X: view

Variants for PCDH11X Gene

Sequence variations from dbSNP and Humsavar for PCDH11X Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
VAR_036109 A colorectal cancer sample
rs4252205 - 92,201,394(+) TGTGC(A/G)ATCTT intron-variant, reference, missense
rs747669539 -- 92,139,088(+) ATTTT(C/T)ACCTC intron-variant
rs747671600 -- 92,323,719(+) AGACA(A/G)GGGAA intron-variant
rs747677414 -- 92,401,874(+) AATCT(A/G)CGTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PCDH11X Gene

Variant ID Type Subtype PubMed ID
nsv528258 CNV Gain 19592680
esv2656576 CNV Deletion 23128226
nsv433341 CNV Loss 18776910
nsv507982 CNV Insertion 20534489
esv2740323 CNV Deletion 23290073
esv2674815 CNV Deletion 23128226
esv27006 CNV Gain 19812545
esv1001030 CNV Gain 20482838
esv22341 CNV Gain+Loss 19812545
esv2673530 CNV Deletion 23128226
esv2740324 CNV Deletion 23290073
esv2660593 CNV Deletion 23128226
esv2675842 CNV Deletion 23128226
esv2740325 CNV Deletion 23290073
esv2656455 CNV Deletion 23128226
nsv510548 CNV Loss 20534489
esv2740326 CNV Deletion 23290073
esv2661726 CNV Deletion 23128226
esv2740327 CNV Deletion 23290073
esv2740329 CNV Deletion 23290073
esv2740330 CNV Deletion 23290073
esv2673642 CNV Deletion 23128226

Variation tolerance for PCDH11X Gene

Residual Variation Intolerance Score: 21.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.26; 52.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDH11X Gene

Human Gene Mutation Database (HGMD)
PCDH11X

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH11X Gene

Disorders for PCDH11X Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDH11X Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyslexia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCDH11X

Genetic Association Database (GAD)
PCDH11X
Human Genome Epidemiology (HuGE) Navigator
PCDH11X
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDH11X
genes like me logo Genes that share disorders with PCDH11X: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDH11X Gene

Publications for PCDH11X Gene

  1. Identification of a novel protocadherin gene (PCDH11) on the human XY homology region in Xq21.3. (PMID: 10644456) Yoshida K. … Sugano S. (Genomics 1999) 2 3 4 23 67
  2. PCDH11 is X/Y homologous in Homo sapiens but not in Gorilla gorilla and Pan troglodytes. (PMID: 16825765) Wilson N.D. … Volpi E.V. (Cytogenet. Genome Res. 2006) 3 23
  3. Protocadherin X (PCDHX) and Y (PCDHY) genes; multiple mRNA isoforms encoding variant signal peptides and cytoplasmic domains. (PMID: 14727141) Blanco-Arias P. … Affara N.A. (Mamm. Genome 2004) 3 23
  4. Protocadherin 11X/Y a human-specific gene pair: an immunohistochemical survey of fetal and adult brains. (PMID: 22744706) Priddle T.H. … Crow T.J. (Cereb. Cortex 2013) 3
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M. … Moll S. (J Proteomics 2013) 3

Products for PCDH11X Gene

Sources for PCDH11X Gene

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