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Aliases for PCDHGA8 Gene

Aliases for PCDHGA8 Gene

  • Protocadherin Gamma Subfamily A, 8 2 3 5
  • PCDH-GAMMA-A8 3 4
  • Protocadherin Gamma-A8 3
  • KIAA0327 4

External Ids for PCDHGA8 Gene

Previous GeneCards Identifiers for PCDHGA8 Gene

  • GC05P140587
  • GC05P141310
  • GC05P140707
  • GC05P140766
  • GC05P140786
  • GC05P140725
  • GC05P140852
  • GC05P140858
  • GC05P140884
  • GC05P140906
  • GC05P140921
  • GC05P140943
  • GC05P140964
  • GC05P140986
  • GC05P141007
  • GC05P141049
  • GC05P135916
  • GC05P141108
  • GC05P141150
  • GC05P141167
  • GC05P141203
  • GC05P141243
  • GC05P141325
  • GC05P141385
  • GC05P141453
  • GC05P141530
  • GC05P141633
  • GC05P141735
  • GC05P141834
  • GC05P141937
  • GC05P142041

Summaries for PCDHGA8 Gene

Entrez Gene Summary for PCDHGA8 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 PCDHGA8 Gene

PCDHGA8 (Protocadherin Gamma Subfamily A, 8) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA9.

UniProtKB/Swiss-Prot for PCDHGA8 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 PCDHGA8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHGA8 Gene

Genomics for PCDHGA8 Gene

GeneHancer (GH) Regulatory Elements for PCDHGA8 Gene

Promoters and enhancers for PCDHGA8 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
GH05I141392 Promoter 0.7 EPDnew 550.8 +2.7 2680 0.1 CTCF L3MBTL2 SMARCA4 PCDHGA8 PCDHGA6 PCDHGA2 PCDHGB4 PCDHGB5 PCDHGA7 PCDHGB3 PCDHGA5 PCDHGB2 PCDHGA4
GH05I141390 Promoter 0.5 EPDnew 550.8 0.0 -34 0.1 PCDHGA8 PCDHGB4 PCDHGA7 PCDHGA6 PCDHGB3 PCDHGA5 PCDHGB2 PCDHGA4 PCDHGB1 PCDHGA3
GH05I142221 Enhancer 1.4 Ensembl ENCODE dbSUPER 35 +832.5 832497 3.3 FOXA2 SMAD1 FEZF1 ZNF2 ZNF213 ZNF143 FOS SP3 JUNB REST PCDHB18P PCDHB15 PCDHGA7 PCDHGA6 PCDHGB4 PCDHGB3 PCDHB19P PCDHGA8 PCDHGA5 PCDHGA2
GH05I140717 Promoter/Enhancer 1.6 Ensembl ENCODE 21.7 -671.0 -671021 2.7 MLX IRF4 ZNF213 E2F8 ZNF416 ZNF143 SP3 PPARGC1A MEF2D GLIS1 GC05P142207 VTRNA1-2 PURA PCDHB18P PCDHB19P PCDHB15 PCDHB12 PCDHB3 PCDHB9 PCDHB13
GH05I141319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.3 -69.5 -69507 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 TAF7 PCDHB15 ANKHD1 ENSG00000272108 WDR55 PCDHB9 LOC102723915 FCHSD1 PCDHB18P PCDHB6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDHGA8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDHGA8 gene promoter:

Genomic Locations for PCDHGA8 Gene

Genomic Locations for PCDHGA8 Gene
chr5:141,390,157-141,512,979
(GRCh38/hg38)
Size:
122,823 bases
Orientation:
Plus strand
chr5:140,771,483-140,892,546
(GRCh37/hg19)

Genomic View for PCDHGA8 Gene

Genes around PCDHGA8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGA8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGA8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGA8 Gene

Proteins for PCDHGA8 Gene

  • Protein details for PCDHGA8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5G5-PCDG8_HUMAN
    Recommended name:
    Protocadherin gamma-A8
    Protein Accession:
    Q9Y5G5
    Secondary Accessions:
    • A7MCZ4
    • O15039

    Protein attributes for PCDHGA8 Gene

    Size:
    932 amino acids
    Molecular mass:
    101480 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA20785.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDHGA8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGA8 Gene

Post-translational modifications for PCDHGA8 Gene

  • Glycosylation at Asn47, isoforms=2414, isoforms=2419, Asn545, and Asn685

Other Protein References for PCDHGA8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHGA8 Gene

Domains & Families for PCDHGA8 Gene

Gene Families for PCDHGA8 Gene

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

Protein Domains for PCDHGA8 Gene

Suggested Antigen Peptide Sequences for PCDHGA8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHGA8: view

No data available for UniProtKB/Swiss-Prot for PCDHGA8 Gene

Function for PCDHGA8 Gene

Molecular function for PCDHGA8 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 PCDHGA8 Gene

Gene Ontology (GO) - Molecular Function for PCDHGA8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGA8: view
genes like me logo Genes that share phenotypes with PCDHGA8: view

miRNA for PCDHGA8 Gene

miRTarBase miRNAs that target PCDHGA8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHGA8 Gene

Localization for PCDHGA8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGA8 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 PCDHGA8 gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDHGA8 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 PCDHGA8: view

Pathways & Interactions for PCDHGA8 Gene

SuperPathways for PCDHGA8 Gene

No Data Available

Interacting Proteins for PCDHGA8 Gene

Gene Ontology (GO) - Biological Process for PCDHGA8 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 PCDHGA8: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGA8 Gene

Drugs & Compounds for PCDHGA8 Gene

(1) Drugs for PCDHGA8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PCDHGA8: view

Transcripts for PCDHGA8 Gene

mRNA/cDNA for PCDHGA8 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGA8 Gene

No ASD Table

Relevant External Links for PCDHGA8 Gene

GeneLoc Exon Structure for
PCDHGA8
ECgene alternative splicing isoforms for
PCDHGA8

Expression for PCDHGA8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHGA8 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCDHGA8 Gene:

PCDHGA8

Evidence on tissue expression from TISSUES for PCDHGA8 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHGA8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHGA8 Gene

Orthologs for PCDHGA8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGA8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGA8 33
  • 98.93 (n)
cow
(Bos Taurus)
Mammalia PCDHGA8 33
  • 86.01 (n)
dog
(Canis familiaris)
Mammalia PCDHGA8 33
  • 83.94 (n)
mouse
(Mus musculus)
Mammalia Pcdhga8 33 16
  • 83.35 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhga8 33
  • 82.92 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
ManyToMany
-- 34
  • 66 (a)
ManyToMany
-- 34
  • 66 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 65 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 34
  • 50 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
ManyToMany
-- 34
  • 54 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 53 (a)
ManyToMany
-- 34
  • 52 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
Species where no ortholog for PCDHGA8 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 PCDHGA8 Gene

ENSEMBL:
Gene Tree for PCDHGA8 (if available)
TreeFam:
Gene Tree for PCDHGA8 (if available)

Paralogs for PCDHGA8 Gene

Variants for PCDHGA8 Gene

Sequence variations from dbSNP and Humsavar for PCDHGA8 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs386352347 uncertain-significance, not provided 141,485,635(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000014772 -- 141,409,727(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000022316 -- 141,472,751(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000136303 -- 141,452,887(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000138324 -- 141,499,091(+) A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDHGA8 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
esv2730847 CNV deletion 23290073
esv2759382 CNV gain 17122850
esv3422812 CNV insertion 20981092
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
nsv599922 CNV loss 21841781
nsv599923 CNV loss 21841781
nsv823280 CNV loss 20364138
nsv968259 CNV duplication 23825009
nsv980740 CNV duplication 23825009

Variation tolerance for PCDHGA8 Gene

Residual Variation Intolerance Score: 72.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.08; 90.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHGA8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGA8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGA8 Gene

Disorders for PCDHGA8 Gene

Additional Disease Information for PCDHGA8

No disorders were found for PCDHGA8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHGA8 Gene

Publications for PCDHGA8 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 58
  2. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 3 4 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  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 58
  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 58

Products for PCDHGA8 Gene

Sources for PCDHGA8 Gene

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