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Aliases for PCDHA11 Gene

Aliases for PCDHA11 Gene

  • Protocadherin Alpha 11 2 3 5
  • KIAA0345-Like 3 2 3
  • CNRS7 3 4
  • Ortholog Of Mouse CNR7 2
  • Protocadherin Alpha-11 3
  • PCDH-Alpha-11 4
  • PCDH-ALPHA11 3
  • CNRN7 3
  • CRNR7 3
  • CNR7 3

External Ids for PCDHA11 Gene

Previous HGNC Symbols for PCDHA11 Gene

  • CNRS7

Previous GeneCards Identifiers for PCDHA11 Gene

  • GC05P140064
  • GC05P140758
  • GC05P140203
  • GC05P140196
  • GC05P140167
  • GC05P140239
  • GC05P140248
  • GC05P140257
  • GC05P140266
  • GC05P140276
  • GC05P140285
  • GC05P140297
  • GC05P140306
  • GC05P140311
  • GC05P140324
  • GC05P140339
  • GC05P135393
  • GC05P140359
  • GC05P140379
  • GC05P140389
  • GC05P140402
  • GC05P140418
  • GC05P140436
  • GC05P140450
  • GC05P141434
  • GC05P141569
  • GC05P141671
  • GC05P141772
  • GC05P141872

Summaries for PCDHA11 Gene

Entrez Gene Summary for PCDHA11 Gene

  • This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHA11 Gene

PCDHA11 (Protocadherin Alpha 11) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA13.

UniProtKB/Swiss-Prot for PCDHA11 Gene

  • Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHA11 Gene

Genomics for PCDHA11 Gene

Regulatory Elements for PCDHA11 Gene

Enhancers for PCDHA11 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05G140965 1 ENCODE 17.8 +99.0 99004 1.3 PKNOX1 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF263 SP3 MXD4 TSHZ1 PCDHA11 PCDHA13 LOC102723915 ENSG00000279028 PCDHACT
GH05G140868 0.7 ENCODE 21.1 +1.7 1718 0.8 CTCF PKNOX1 ESRRA TEAD4 SIN3A CEBPG ZNF2 RAD21 CTBP1 GATA3 PCDHA11 ENSG00000278946 PCDHA12
GH05G140926 0.9 ENCODE 12.9 +59.1 59095 0.8 KLF17 SIN3A ZNF2 RAD21 ZEB1 GLIS2 KLF7 ZNF263 SP3 ZEB2 PCDHA11 PCDHA10 PIR58635 PCDHAC1
GH05G141325 0.9 ENCODE 4.3 +458.7 458660 1.1 TBP PKNOX1 ATF1 CBX3 ZNF48 RAD21 GATA2 CBX5 RCOR1 ETV6 PCDHB15 PCDHGA1 IK PCDHA11 ENSG00000272070 TAF7
GH05G141786 0.5 dbSUPER 4 +920.7 920664 3.0 CTCF ZMYM3 ZNF398 ZIC2 ATF2 PCDH1 PCDHA11 ENSG00000278925 ARAP3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHA11 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHA11 Gene

Chromosome:
5
Start:
140,867,513 bp from pter
End:
141,012,344 bp from pter
Size:
144,832 bases
Orientation:
Plus strand

Genomic View for PCDHA11 Gene

Genes around PCDHA11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHA11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHA11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHA11 Gene

Proteins for PCDHA11 Gene

  • Protein details for PCDHA11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5I1-PCDAB_HUMAN
    Recommended name:
    Protocadherin alpha-11
    Protein Accession:
    Q9Y5I1
    Secondary Accessions:
    • B2RN58
    • O75279

    Protein attributes for PCDHA11 Gene

    Size:
    949 amino acids
    Molecular mass:
    103298 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHA11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHA11 Gene

Post-translational modifications for PCDHA11 Gene

  • Glycosylation at posLast=265265, posLast=304304, and posLast=547547
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHA11 Gene

No data available for DME Specific Peptides for PCDHA11 Gene

Domains & Families for PCDHA11 Gene

Gene Families for PCDHA11 Gene

Protein Domains for PCDHA11 Gene

Suggested Antigen Peptide Sequences for PCDHA11 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHA11: view

No data available for UniProtKB/Swiss-Prot for PCDHA11 Gene

Function for PCDHA11 Gene

Molecular function for PCDHA11 Gene

UniProtKB/Swiss-Prot Function:
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

Gene Ontology (GO) - Molecular Function for PCDHA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHA11: view
genes like me logo Genes that share phenotypes with PCDHA11: view

Animal Model Products

CRISPR Products

miRNA for PCDHA11 Gene

miRTarBase miRNAs that target PCDHA11

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHA11 Gene

Localization for PCDHA11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHA11 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDHA11 gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for PCDHA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 10380929
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHA11: view

Pathways & Interactions for PCDHA11 Gene

SuperPathways for PCDHA11 Gene

No Data Available

Interacting Proteins for PCDHA11 Gene

Gene Ontology (GO) - Biological Process for PCDHA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion TAS 10380929
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development TAS 10380929
genes like me logo Genes that share ontologies with PCDHA11: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHA11 Gene

Drugs & Compounds for PCDHA11 Gene

(1) Drugs for PCDHA11 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 PCDHA11: view

Transcripts for PCDHA11 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHA11 Gene

No ASD Table

Relevant External Links for PCDHA11 Gene

GeneLoc Exon Structure for
PCDHA11
ECgene alternative splicing isoforms for
PCDHA11

Expression for PCDHA11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHA11 Gene

mRNA differential expression in normal tissues according to GTEx for PCDHA11 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x7.8), Brain - Cerebellum (x5.3), and Brain - Frontal Cortex (BA9) (x4.4).

Protein differential expression in normal tissues from HIPED for PCDHA11 Gene

This gene is overexpressed in Fetal Brain (34.2), Spinal cord (24.3), and Frontal cortex (10.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHA11 Gene



Protein tissue co-expression partners for PCDHA11 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHA11 Gene:

PCDHA11

Evidence on tissue expression from TISSUES for PCDHA11 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHA11: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHA11 Gene

Orthologs for PCDHA11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHA11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHA11 34
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia PCDHA11 35
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdha11 34 16
  • 83.61 (n)
rat
(Rattus norvegicus)
Mammalia Pcdha12 34
  • 82.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
ManyToMany
-- 35
  • 68 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves PCDHA11 35
  • 53 (a)
ManyToMany
-- 35
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 57 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 56 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 51 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii pcdh2ab1 35
  • 43 (a)
ManyToMany
pcdh2ab12 35
  • 43 (a)
ManyToMany
pcdh2ab3 35
  • 43 (a)
ManyToMany
CT573264.5 35
  • 42 (a)
ManyToMany
pcdh2ab8 35
  • 42 (a)
ManyToMany
CR847851.6 35
  • 41 (a)
ManyToMany
CR847851.8 35
  • 41 (a)
ManyToMany
CT573264.4 35
  • 41 (a)
ManyToMany
pcdh1a6 35
  • 41 (a)
ManyToMany
pcdh2ab11 35
  • 41 (a)
ManyToMany
pcdh2ab2 35 35
  • 41 (a)
ManyToMany
pcdh2ab6 35
  • 41 (a)
ManyToMany
pcdh2ab7 35
  • 41 (a)
ManyToMany
pcdh2ab9 35
  • 41 (a)
ManyToMany
pcdh2ab10 35
  • 40 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
CSA.7308 35
  • 19 (a)
ManyToMany
Species where no ortholog for PCDHA11 was found in the sources mined by GeneCards:
  • 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)
  • dog (Canis familiaris)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHA11 Gene

ENSEMBL:
Gene Tree for PCDHA11 (if available)
TreeFam:
Gene Tree for PCDHA11 (if available)

Paralogs for PCDHA11 Gene

genes like me logo Genes that share paralogs with PCDHA11: view

Variants for PCDHA11 Gene

Sequence variations from dbSNP and Humsavar for PCDHA11 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352346 Uncertain significance 140,929,288(+) GATTC(A/G)GAATA intron-variant, reference, missense
rs1000122176 -- 140,965,777(+) TTTGC(C/T)TACAG intron-variant, upstream-variant-2KB
rs1000158608 -- 140,908,533(+) GTTTC(C/T)ACCAA intron-variant
rs1000201941 -- 140,868,269(+) TTTTT(A/T)AAACT intron-variant, utr-variant-5-prime
rs1000218491 -- 140,867,969(+) CTTTC(A/C)ACAAG intron-variant, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PCDHA11 Gene

Variant ID Type Subtype PubMed ID
dgv138e203 CNV loss 21179565
dgv1653e212 CNV loss 25503493
esv2505753 CNV deletion 19546169
esv2759382 CNV gain 17122850
esv3606959 CNV gain 21293372
nsv1031849 CNV loss 25217958
nsv10754 CNV gain 18304495
nsv1161301 OTHER complex 26073780
nsv599904 CNV loss 21841781
nsv823264 CNV gain 20364138
nsv830508 CNV loss 17160897
nsv964955 CNV duplication 23825009
nsv964956 CNV duplication 23825009
nsv968252 CNV duplication 23825009
nsv968992 CNV duplication 23825009

Variation tolerance for PCDHA11 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.56; 72.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHA11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHA11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHA11 Gene

Disorders for PCDHA11 Gene

Relevant External Links for PCDHA11

Genetic Association Database (GAD)
PCDHA11
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHA11

No disorders were found for PCDHA11 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHA11 Gene

Publications for PCDHA11 Gene

  1. A striking organization of a large family of human neural cadherin- like cell adhesion genes. (PMID: 10380929) Wu Q. … Maniatis T. (Cell 1999) 2 3 4 64
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 64
  3. Genomic organization of the family of CNR cadherin genes in mice and humans. (PMID: 10662547) Sugino H. … Yagi T. (Genomics 2000) 2 3 64
  4. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox C.S. … Borecki I.B. (PLoS Genet. 2012) 3 64
  5. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PMID: 17474147) Wu C. … Li S.S. (Proteomics 2007) 3 64

Products for PCDHA11 Gene

Sources for PCDHA11 Gene

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