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 PCDHGA2 Gene

Aliases for PCDHGA2 Gene

  • Protocadherin Gamma Subfamily A, 2 2 3 5
  • Protocadherin Gamma-A2 3 4
  • PCDH-GAMMA-A2 3
  • PCDH-Gamma-A2 4

External Ids for PCDHGA2 Gene

Previous GeneCards Identifiers for PCDHGA2 Gene

  • GC05P140534
  • GC05P141301
  • GC05P140701
  • GC05P140746
  • GC05P140698
  • GC05P141048
  • GC05P141239
  • GC05P141287
  • GC05P141372
  • GC05P141442
  • GC05P141517
  • GC05P142443
  • GC05P142547
  • GC05P142658
  • GC05P141623
  • GC05P141725
  • GC05P141824
  • GC05P141924
  • GC05P142031
  • GC05P142139
  • GC05P142237
  • GC05P142339

Summaries for PCDHGA2 Gene

Entrez Gene Summary for PCDHGA2 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 PCDHGA2 Gene

PCDHGA2 (Protocadherin Gamma Subfamily A, 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA3.

UniProtKB/Swiss-Prot Summary for PCDHGA2 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 PCDHGA2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCDHGA2 Gene

Genomics for PCDHGA2 Gene

GeneHancer (GH) Regulatory Elements for PCDHGA2 Gene

Promoters and enhancers for PCDHGA2 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 PCDHGA2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCDHGA2

Top Transcription factor binding sites by QIAGEN in the PCDHGA2 gene promoter:
  • AP-1
  • AREB6
  • ATF-2
  • c-Jun
  • Sp1

Genomic Locations for PCDHGA2 Gene

Genomic Locations for PCDHGA2 Gene
chr5:141,338,760-141,512,979
(GRCh38/hg38)
Size:
174,220 bases
Orientation:
Plus strand
chr5:140,718,354-140,892,546
(GRCh37/hg19)
Size:
174,193 bases
Orientation:
Plus strand

Genomic View for PCDHGA2 Gene

Genes around PCDHGA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGA2 Gene

Proteins for PCDHGA2 Gene

  • Protein details for PCDHGA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5H1-PCDG2_HUMAN
    Recommended name:
    Protocadherin gamma-A2
    Protein Accession:
    Q9Y5H1
    Secondary Accessions:
    • Q52LL6
    • Q9Y5D5

    Protein attributes for PCDHGA2 Gene

    Size:
    932 amino acids
    Molecular mass:
    101484 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHGA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGA2 Gene

Post-translational modifications for PCDHGA2 Gene

  • Glycosylation at Asn419, Asn545, and Asn685
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHGA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHGA2 Gene

Domains & Families for PCDHGA2 Gene

Gene Families for PCDHGA2 Gene

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

Protein Domains for PCDHGA2 Gene

Suggested Antigen Peptide Sequences for PCDHGA2 Gene

GenScript: Design optimal peptide antigens:
  • Protocadherin gamma-A2 (PCDG2_HUMAN)
genes like me logo Genes that share domains with PCDHGA2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PCDHGA2 Gene

Function for PCDHGA2 Gene

Molecular function for PCDHGA2 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 PCDHGA2 Gene

Gene Ontology (GO) - Molecular Function for PCDHGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGA2: view
genes like me logo Genes that share phenotypes with PCDHGA2: view

Animal Model Products

CRISPR Products

miRNA for PCDHGA2 Gene

miRTarBase miRNAs that target PCDHGA2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDHGA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHGA2 Gene

Localization for PCDHGA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGA2 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 PCDHGA2 gene
Compartment Confidence
plasma membrane 3
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
  • Cytosol (1)
  • Focal adhesion sites (1)
  • Nucleoli (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDHGA2 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 PCDHGA2: view

Pathways & Interactions for PCDHGA2 Gene

PathCards logo

SuperPathways for PCDHGA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDHGA2 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 PCDHGA2: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGA2 Gene

Drugs & Compounds for PCDHGA2 Gene

(1) Drugs for PCDHGA2 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 PCDHGA2: view

Transcripts for PCDHGA2 Gene

mRNA/cDNA for PCDHGA2 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 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 PCDHGA2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGA2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^
SP1: -
SP2: - - - - - - - - - - - - - - - - - - - - - -
SP3: -
SP4:
SP5: - - - - - - - - - - - - - - - - - - - - -
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - - - - - - - - - - - - - - - - -
SP13: - - - - - - - - - - - - - - - - -
SP14: - - - - - - - - - - - - - - - -
SP15: - - - - - - - - - - - - - - -
SP16: - - - - - - - - - - - - - -
SP17: - - - - - - - - - - - - -
SP18: - - - - - - - - - - - -
SP19: - - - - - - - - - - -
SP20: - - - - - - - - - -
SP21: - - - - - - - - -
SP22: - - - - - - - - - - - - - - - - - - - - - -
SP23: - - - - - - - -
SP24: - - - - - - -
SP25: - - - - - -
SP26: - - - - -
SP27:
SP28:
SP29: -
SP30:
SP31:

ExUns: 24 ^ 25 ^ 26a · 26b · 26c ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32a · 32b · 32c · 32d · 32e · 32f
SP1: - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - -
SP4: - - - - - - -
SP5: - - - - - - - - -
SP6: - - - -
SP7: - -
SP8: -
SP9: - - - - - - - - -
SP10: - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - - - - - - -
SP20: - - - - - - - - -
SP21: - - - - - - - - -
SP22: - - - - - - - - -
SP23: - - - - - - - - -
SP24: - - - - - - - - -
SP25: - - - - - - - - -
SP26: - - - - - - - - -
SP27:
SP28:
SP29:
SP30:
SP31:

Relevant External Links for PCDHGA2 Gene

GeneLoc Exon Structure for
PCDHGA2

Expression for PCDHGA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCDHGA2 Gene

Protein differential expression in normal tissues from HIPED for PCDHGA2 Gene

This gene is overexpressed in Frontal cortex (51.2) and Fetal Brain (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PCDHGA2 Gene



Protein tissue co-expression partners for PCDHGA2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCDHGA2

Evidence on tissue expression from TISSUES for PCDHGA2 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHGA2: 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 PCDHGA2 Gene

Orthologs for PCDHGA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGA2 30
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia PCDHGA2 31 30
  • 84.59 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdhga2 17 30
  • 83.41 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhga2 30
  • 83.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 67 (a)
ManyToMany
-- 31
  • 67 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 67 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
-- 31
  • 65 (a)
ManyToMany
-- 31
  • 64 (a)
ManyToMany
-- 31
  • 57 (a)
ManyToMany
-- 31
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC100858837 30
  • 62.33 (n)
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 55 (a)
ManyToMany
-- 31
  • 54 (a)
ManyToMany
-- 31
  • 53 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 52 (a)
ManyToMany
-- 31
  • 51 (a)
ManyToMany
-- 31
  • 51 (a)
ManyToMany
-- 31
  • 46 (a)
ManyToMany
-- 31
  • 41 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 39 (a)
ManyToMany
-- 31
  • 37 (a)
ManyToMany
Species where no ortholog for PCDHGA2 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 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 PCDHGA2 Gene

ENSEMBL:
Gene Tree for PCDHGA2 (if available)
TreeFam:
Gene Tree for PCDHGA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PCDHGA2: view image

Paralogs for PCDHGA2 Gene

genes like me logo Genes that share paralogs with PCDHGA2: view

Variants for PCDHGA2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCDHGA2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs6878145 - p.Gln5Arg

Additional dbSNP identifiers (rs#s) for PCDHGA2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCDHGA2 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
esv2730847 CNV deletion 23290073
esv2759382 CNV gain 17122850
esv3422812 CNV insertion 20981092
esv3570470 CNV loss 25503493
esv3606980 CNV loss 21293372
esv3606981 CNV gain 21293372
esv3606982 CNV loss 21293372
esv3606983 CNV gain 21293372
esv3606984 CNV loss 21293372
esv3606985 CNV gain 21293372
esv3606987 CNV gain 21293372
nsv1123990 CNV deletion 24896259
nsv1125852 CNV tandem duplication 24896259
nsv327707 CNV deletion 16902084
nsv462470 CNV loss 19166990
nsv518799 CNV loss 19592680
nsv519627 CNV loss 19592680
nsv599921 CNV loss 21841781
nsv599922 CNV loss 21841781
nsv599923 CNV loss 21841781
nsv823279 CNV gain 20364138
nsv823280 CNV loss 20364138
nsv968258 CNV duplication 23825009
nsv968259 CNV duplication 23825009
nsv980739 CNV duplication 23825009
nsv980740 CNV duplication 23825009

Variation tolerance for PCDHGA2 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.42; 85.60% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHGA2 Gene

Human Gene Mutation Database (HGMD)
PCDHGA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGA2 Gene

Disorders for PCDHGA2 Gene

Additional Disease Information for PCDHGA2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PCDHGA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHGA2 Gene

Publications for PCDHGA2 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. 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
  4. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. (PMID: 21873635) Gaudet P … Thomas PD (Briefings in bioinformatics 2011) 3 54
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 54

Products for PCDHGA2 Gene

Sources for PCDHGA2 Gene