This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, sub... See more...

Aliases for PCDHGA11 Gene

Aliases for PCDHGA11 Gene

  • Protocadherin Gamma Subfamily A, 11 2 3 5
  • Protocadherin Gamma-A11 3 4
  • PCDH-GAMMA-A11 3
  • PCDH-Gamma-A11 4

External Ids for PCDHGA11 Gene

Previous GeneCards Identifiers for PCDHGA11 Gene

  • GC05P140596
  • GC05P141317
  • GC05P140720
  • GC05P140779
  • GC05P140799
  • GC05P140739
  • GC05P140811
  • GC05P140835
  • GC05P140867
  • GC05P140881
  • GC05P140901
  • GC05P140917
  • GC05P140939
  • GC05P140960
  • GC05P140982
  • GC05P141009
  • GC05P141034
  • GC05P135945
  • GC05P141114
  • GC05P141134
  • GC05P141174
  • GC05P141217
  • GC05P141257
  • GC05P141335
  • GC05P141391
  • GC05P141458
  • GC05P141536
  • GC05P142458
  • GC05P142562
  • GC05P142673
  • GC05P141639
  • GC05P141740
  • GC05P141839
  • GC05P141942
  • GC05P142046
  • GC05P142154
  • GC05P142252
  • GC05P142354

Summaries for PCDHGA11 Gene

Entrez Gene Summary for PCDHGA11 Gene

  • This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggesting that a novel mechanism may be involved in their regulation and expression. The gamma gene cluster includes 22 genes divided into 3 subfamilies. Subfamily A contains 12 genes, subfamily B contains 7 genes and 2 pseudogenes, and the more distantly related subfamily C contains 3 genes. The tandem array of 22 large, variable region exons are followed by a constant region, containing 3 exons shared by all genes in the cluster. Each variable region exon encodes the extracellular region, which includes 6 cadherin ectodomains and a transmembrane region. The constant region exons encode the common cytoplasmic region. These neural cadherin-like cell adhesion proteins most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been described for the gamma cluster genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHGA11 Gene

PCDHGA11 (Protocadherin Gamma Subfamily A, 11) is a Protein Coding gene. Diseases associated with PCDHGA11 include Tanycytic Ependymoma and Giant Cell Glioblastoma. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA12.

UniProtKB/Swiss-Prot Summary for PCDHGA11 Gene

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

Gene Wiki entry for PCDHGA11 Gene

Additional gene information for PCDHGA11 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCDHGA11 Gene

Genomics for PCDHGA11 Gene

GeneHancer (GH) Regulatory Elements for PCDHGA11 Gene

Promoters and enhancers for PCDHGA11 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCDHGA11 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCDHGA11

Top Transcription factor binding sites by QIAGEN in the PCDHGA11 gene promoter:
  • AhR
  • Arnt
  • c-Ets-1
  • COMP1
  • CREB
  • deltaCREB
  • FOXD3
  • HOXA5
  • p300
  • Sox9

Genomic Locations for PCDHGA11 Gene

Genomic Locations for PCDHGA11 Gene
chr5:141,420,970-141,512,979
(GRCh38/hg38)
Size:
92,010 bases
Orientation:
Plus strand
chr5:140,800,537-140,892,546
(GRCh37/hg19)
Size:
92,010 bases
Orientation:
Plus strand

Genomic View for PCDHGA11 Gene

Genes around PCDHGA11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGA11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGA11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGA11 Gene

Proteins for PCDHGA11 Gene

  • Protein details for PCDHGA11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5H2-PCDGB_HUMAN
    Recommended name:
    Protocadherin gamma-A11
    Protein Accession:
    Q9Y5H2
    Secondary Accessions:
    • B7ZVY8
    • Q9Y5D8
    • Q9Y5D9

    Protein attributes for PCDHGA11 Gene

    Size:
    935 amino acids
    Molecular mass:
    101543 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHGA11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGA11 Gene

Post-translational modifications for PCDHGA11 Gene

  • Glycosylation at Asn48, Asn255, Asn266, Asn420, and Asn546
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHGA11 Gene

No data available for DME Specific Peptides for PCDHGA11 Gene

Domains & Families for PCDHGA11 Gene

Gene Families for PCDHGA11 Gene

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

Protein Domains for PCDHGA11 Gene

Suggested Antigen Peptide Sequences for PCDHGA11 Gene

GenScript: Design optimal peptide antigens:
  • Protocadherin gamma-A11 (PCDGB_HUMAN)
genes like me logo Genes that share domains with PCDHGA11: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PCDHGA11 Gene

Function for PCDHGA11 Gene

Molecular function for PCDHGA11 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 PCDHGA11 Gene

Gene Ontology (GO) - Molecular Function for PCDHGA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGA11: view
genes like me logo Genes that share phenotypes with PCDHGA11: view

miRNA for PCDHGA11 Gene

miRTarBase miRNAs that target PCDHGA11

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHGA11 Gene

Localization for PCDHGA11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGA11 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 PCDHGA11 gene
Compartment Confidence
plasma membrane 3
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Nucleoplasm (1)
  • Plasma membrane (1)
  • Vesicles (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDHGA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHGA11: view

Pathways & Interactions for PCDHGA11 Gene

PathCards logo

SuperPathways for PCDHGA11 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDHGA11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA 21873635
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with PCDHGA11: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGA11 Gene

Drugs & Compounds for PCDHGA11 Gene

(1) Drugs for PCDHGA11 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 PCDHGA11: view

Transcripts for PCDHGA11 Gene

mRNA/cDNA for PCDHGA11 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGA11 Gene

No ASD Table

Relevant External Links for PCDHGA11 Gene

GeneLoc Exon Structure for
PCDHGA11

Expression for PCDHGA11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCDHGA11 Gene

Protein differential expression in normal tissues from HIPED for PCDHGA11 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (46.7) and Ovary (22.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCDHGA11 Gene



Protein tissue co-expression partners for PCDHGA11 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCDHGA11

Evidence on tissue expression from TISSUES for PCDHGA11 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHGA11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHGA11 Gene

Orthologs for PCDHGA11 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGA11 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGA11 30
  • 99.68 (n)
cow
(Bos Taurus)
Mammalia PCDHGA11 30
  • 84.54 (n)
dog
(Canis familiaris)
Mammalia PCDHGA11 30
  • 83.13 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhga11 30
  • 81.99 (n)
mouse
(Mus musculus)
Mammalia Pcdhga11 17 30
  • 81.84 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 68 (a)
ManyToMany
-- 31
  • 67 (a)
ManyToMany
-- 31
  • 66 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
-- 31
  • 58 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 67 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
-- 31
  • 63 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 31
  • 51 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 54 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 51 (a)
ManyToMany
Species where no ortholog for PCDHGA11 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)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PCDHGA11 Gene

ENSEMBL:
Gene Tree for PCDHGA11 (if available)
TreeFam:
Gene Tree for PCDHGA11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCDHGA11: view image

Paralogs for PCDHGA11 Gene

genes like me logo Genes that share paralogs with PCDHGA11: view

Variants for PCDHGA11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCDHGA11 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs11167744 - p.Phe104Leu

Additional dbSNP identifiers (rs#s) for PCDHGA11 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCDHGA11 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
esv2730847 CNV deletion 23290073
esv2759382 CNV gain 17122850
esv3606987 CNV gain 21293372
nsv1123990 CNV deletion 24896259
nsv1125852 CNV tandem duplication 24896259
nsv462470 CNV loss 19166990
nsv519627 CNV loss 19592680
nsv599923 CNV loss 21841781
nsv980740 CNV duplication 23825009

Variation tolerance for PCDHGA11 Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.99; 74.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHGA11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGA11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGA11 Gene

Disorders for PCDHGA11 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PCDHGA11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
tanycytic ependymoma
giant cell glioblastoma
  • monstrocellular sarcoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCDHGA11

genes like me logo Genes that share disorders with PCDHGA11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHGA11 Gene

Publications for PCDHGA11 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. Epigenetic silencing of the protocadherin family member PCDH-gamma-A11 in astrocytomas. (PMID: 15799819) Waha A … Waha A (Neoplasia (New York, N.Y.) 2005) 3 23 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. 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
  5. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54

Products for PCDHGA11 Gene

Sources for PCDHGA11 Gene