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Aliases for PCDHGA2 Gene

Aliases for PCDHGA2 Gene

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

External Ids for PCDHGA2 Gene

Previous GeneCards Identifiers for PCDHGA2 Gene

  • GC05P140534
  • GC05P141301
  • GC05P140701
  • GC05P140746
  • GC05P140698
  • GC05P141048
  • GC05P141239
  • GC05P141287
  • GC05P141372
  • GC05P141442
  • GC05P141517
  • GC05P141623
  • GC05P141725
  • GC05P141824
  • GC05P141924

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. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA3.

UniProtKB/Swiss-Prot 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 , fRNAdb sequence ontologies and piRNA Summary for PCDHGA2 Gene

Genomics for PCDHGA2 Gene

Regulatory Elements for PCDHGA2 Gene

Enhancers for PCDHGA2 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
GH05H141506 2 FANTOM5 Ensembl ENCODE dbSUPER 14.2 +177.7 177719 20 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 PCDHGC4 DIAPH1 PCDHGB6 PCDHGA2 PCDHGC5 PCDHGA11 RN7SL68P PCDHGC3 PCDHGB7 PCDHGA10
GH05H142221 1.6 Ensembl ENCODE dbSUPER 14.5 +883.9 883894 3 FOXA2 FEZF1 ZNF2 FOS SP3 JUNB ZNF662 KAT8 ZNF610 SMARCA4 PCDHB18P PCDHGA7 PCDHGA6 PCDHB15 PCDHGB3 PCDHB19P PCDHGB4 PCDHGA8 PCDHGB8P PCDHGA5
GH05H141968 1.1 ENCODE 18.5 +630.8 630807 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LOC102723915 HDAC3 KIAA0141 PCDHGA5 PCDHB12 RNF14 PCDHB11 PCDHB18P PCDHB4 PCDHB15
GH05H142278 1.7 FANTOM5 Ensembl ENCODE dbSUPER 10 +941.8 941765 3 HDAC1 PKNOX1 ATF1 NFIB FEZF1 GLI4 ZNF2 ZNF366 SCRT2 FOS PCDHGA9 PCDHGB7 PCDHGB3 PCDHGA2 PCDHGA5 PCDHGB4 ENSG00000277968 ENSG00000280047
GH05H141868 1.7 FANTOM5 ENCODE dbSUPER 9.8 +535.7 535651 11 PKNOX1 FOXA2 ARID4B SIN3A YBX1 ZNF2 ZBTB7B YY1 ZNF766 ZNF143 MRPL11P2 PCDHB19P PCDHB5 PCDHB12 PCDHB3 PCDHB11 KIAA0141 HDAC3 PCDHGA4 LOC102723915
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHGA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHGA2 Gene

Chromosome:
5
Start:
141,338,760 bp from pter
End:
141,512,979 bp from pter
Size:
174,220 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 posLast=419419, Asn545, and Asn685
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHGA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for PCDHGA2

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:

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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.

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

Phenotypes for PCDHGA2 Gene

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

Clone Products

  • Applied Biological Materials Clones for PCDHGA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

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 --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHGA2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDHGA2 Gene

Pathways & Interactions for PCDHGA2 Gene

SuperPathways for PCDHGA2 Gene

No Data Available

Interacting Proteins for PCDHGA2 Gene

Gene Ontology (GO) - Biological Process for PCDHGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IBA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development IBA --
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 Nutra 0
genes like me logo Genes that share compounds with PCDHGA2: view

Transcripts for PCDHGA2 Gene

mRNA/cDNA for PCDHGA2 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCDHGA2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
ECgene alternative splicing isoforms for
PCDHGA2

Expression for PCDHGA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for PCDHGA2 Gene



Protein tissue co-expression partners for PCDHGA2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHGA2 Gene:

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

Primer Products

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 33
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia PCDHGA2 33 34
  • 84.59 (n)
mouse
(Mus musculus)
Mammalia Pcdhga2 33 16
  • 83.41 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhga2 33
  • 83.22 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 67 (a)
ManyToMany
-- 34
  • 67 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 57 (a)
ManyToMany
-- 34
  • 43 (a)
ManyToMany
chicken
(Gallus gallus)
Aves LOC100858837 33
  • 62.33 (n)
-- 34
  • 52 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
ManyToMany
-- 34
  • 54 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 46 (a)
ManyToMany
-- 34
  • 41 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 40 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 39 (a)
ManyToMany
-- 34
  • 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)

Paralogs for PCDHGA2 Gene

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

Variants for PCDHGA2 Gene

Sequence variations from dbSNP and Humsavar for PCDHGA2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352347 Uncertain significance 141,485,635(+) CCGTT(A/G)GAAAA intron-variant, reference, synonymous-codon
rs1000014772 -- 141,409,727(+) TGAGC(A/G)CGCAG intron-variant, reference, missense
rs1000022316 -- 141,472,751(+) GAGGC(A/G)GAGGC intron-variant
rs1000098905 -- 141,353,769(+) TAATG(C/T)ATACT intron-variant, upstream-variant-2KB
rs1000136303 -- 141,452,887(+) TTATT(C/T)CACTT intron-variant

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)

Relevant External Links for PCDHGA2 Gene

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

Relevant External Links for PCDHGA2

Genetic Association Database (GAD)
PCDHGA2
Human Genome Epidemiology (HuGE) Navigator
PCDHGA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHGA2

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 60
  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 45 60
  3. 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 60
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 60
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 60

Products for PCDHGA2 Gene

Sources for PCDHGA2 Gene

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