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 ... See more...

Aliases for PCDHA11 Gene

Aliases for PCDHA11 Gene

  • Protocadherin Alpha 11 2 3 5
  • Protocadherin Alpha-11 3 4
  • KIAA0345-Like 3 2 3
  • CNRS7 3 4
  • Ortholog Of Mouse CNR7 2
  • 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
  • GC05P142509
  • GC05P142619
  • GC05P142743
  • GC05P141671
  • GC05P141772
  • GC05P141872
  • GC05P141981
  • GC05P142081
  • GC05P142186
  • GC05P142282
  • GC05P142399

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. Diseases associated with PCDHA11 include Hirschsprung Disease 1. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA1.

UniProtKB/Swiss-Prot Summary for PCDHA11 Gene

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

Additional gene information for PCDHA11 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCDHA11 Gene

Genomics for PCDHA11 Gene

GeneHancer (GH) Regulatory Elements for PCDHA11 Gene

Promoters and enhancers for PCDHA11 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J140868 Promoter/Enhancer 1 EPDnew ENCODE 521 +1.7 1718 0.8 CTCF TEAD4 TEAD1 CTBP1 POLR2A SIN3A ESRRA SMC3 ZBTB17 RAD21 PCDHA11 ENSG00000278946 PCDHA12 PCDHA10 PCDHA9 PCDHA8 PCDHA7 PCDHA6 PCDHA5 PCDHA4
GH05J140871 Promoter 0.3 EPDnew 500.7 +3.7 3666 0.1 PCDHA11 ENSG00000278946 PCDHA12 PCDHA10 PCDHA9 PCDHA8 PCDHA7 PCDHA6 PCDHA5 PCDHA4
GH05J140965 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 17.8 +98.9 98888 1.6 ZNF217 ZFX ZIC2 GABPA ZBTB26 MXI1 ZNF341 OSR2 SIN3A SP2 ENSG00000279028 PCDHAC2 PCDHA11 PCDHA13 PCDHAC1 PCDHA12 PCDHA10 PCDHA9 PCDHA8 PCDHA6
GH05J140926 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 19.1 +59.3 59288 2 CTCF ZIC2 ZBTB10 ZBTB26 SAP30 KLF7 ZEB1 MXI1 SIN3A SMC3 PCDHAC1 piR-35590 PCDHA11 PCDHA10 PCDHA4 PCDHA13 PCDHA12 PCDHA9 PCDHA8 PCDHA7
GH05J140874 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 20.6 +7.9 7888 2 USF1 TEAD4 CTCF POLR2A SMC3 ELF1 RAD21 SIN3A MITF TOE1 ENSG00000278915 PCDHA12 PCDHA11 PCDHA9 IK PCDHA10 PCDHA8 PCDHA7 PCDHA6 PCDHA5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCDHA11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCDHA11

Top Transcription factor binding sites by QIAGEN in the PCDHA11 gene promoter:
  • AREB6
  • C/EBPalpha
  • CHOP-10
  • FOXD3
  • FOXO4
  • HTF
  • Max
  • p300
  • RelA
  • Zic3

Genomic Locations for PCDHA11 Gene

Genomic Locations for PCDHA11 Gene
chr5:140,867,513-141,012,344
(GRCh38/hg38)
Size:
144,832 bases
Orientation:
Plus strand
chr5:140,247,831-140,391,929
(GRCh37/hg19)
Size:
144,099 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 Asn265, Asn304, and Asn547
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PCDHA11 Gene

Suggested Antigen Peptide Sequences for PCDHA11 Gene

GenScript: Design optimal peptide antigens:
  • Protocadherin alpha-11 (PCDAB_HUMAN)
genes like me logo Genes that share domains with PCDHA11: view

No data available for Graphical View of Domain Structure and 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.

Phenotypes From GWAS Catalog for PCDHA11 Gene

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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDHA11

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 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytoplasmic bodies (2)
  • Vesicles (2)
See all subcellular structures

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,IBA 21873635
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

PathCards logo

SuperPathways for PCDHA11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDHA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA,TAS 21873635
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
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 Approved Nutra 7884
genes like me logo Genes that share compounds with PCDHA11: view

Transcripts for PCDHA11 Gene

mRNA/cDNA for PCDHA11 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDHA11

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

Expression for PCDHA11 Gene

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



Protein tissue co-expression partners for PCDHA11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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

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 30
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia PCDHA11 31
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdha11 17 30
  • 83.61 (n)
rat
(Rattus norvegicus)
Mammalia Pcdha12 30
  • 82.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 68 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 63 (a)
OneToMany
chicken
(Gallus gallus)
Aves PCDHA11 31
  • 53 (a)
ManyToMany
-- 31
  • 47 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 57 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 56 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 55 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 51 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii pcdh2ab3 31
  • 43 (a)
ManyToMany
pcdh2ab1 31
  • 43 (a)
ManyToMany
pcdh2ab12 31
  • 43 (a)
ManyToMany
pcdh2ab8 31
  • 42 (a)
ManyToMany
CT573264.5 31
  • 42 (a)
ManyToMany
pcdh2ab9 31
  • 41 (a)
ManyToMany
pcdh2ab11 31
  • 41 (a)
ManyToMany
pcdh1a6 31
  • 41 (a)
ManyToMany
pcdh2ab2 31 31
  • 41 (a)
ManyToMany
CR847851.6 31
  • 41 (a)
ManyToMany
CT573264.4 31
  • 41 (a)
ManyToMany
CR847851.8 31
  • 41 (a)
ManyToMany
pcdh2ab7 31
  • 41 (a)
ManyToMany
pcdh2ab6 31
  • 41 (a)
ManyToMany
pcdh2ab10 31
  • 40 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 32 (a)
ManyToMany
CSA.7308 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PCDHA11: view image

Paralogs for PCDHA11 Gene

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

Variants for PCDHA11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCDHA11 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
708061 Likely Benign: not provided 141,009,697(+) C/T SYNONYMOUS_VARIANT
710264 Likely Benign: not provided 141,009,754(+) C/A SYNONYMOUS_VARIANT
745976 Likely Benign: not provided 140,978,960(+) C/G SYNONYMOUS_VARIANT
770914 Benign: not provided 140,982,540(+) C/G MISSENSE_VARIANT
rs150254638 Uncertain Significance: Hirschsprung disease 1 140,978,974(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for PCDHA11 Gene

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)

Additional Variant Information for PCDHA11 Gene

Human Gene Mutation Database (HGMD)
PCDHA11
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

MalaCards: The human disease database

(1) MalaCards diseases for PCDHA11 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hirschsprung disease 1
  • hirschsprung disease, susceptibility to, 1
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCDHA11

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

No data available for 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 54
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J … Rubin EM (Nature 2004) 3 4 54
  3. Genomic organization of the family of CNR cadherin genes in mice and humans. (PMID: 10662547) Sugino H … Yagi T (Genomics 2000) 2 3 54
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  5. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. (PMID: 28625976) Hou P … Huang J (Cancer research 2017) 3 54

Products for PCDHA11 Gene

Sources for PCDHA11 Gene