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Aliases for PCDHA6 Gene

Aliases for PCDHA6 Gene

  • Protocadherin Alpha 6 2 3 5
  • KIAA0345-Like 8 2 3
  • PCDH-Alpha-6 3 4
  • CNRS2 3 4
  • PCDH-ALPHA6 3
  • CNRN2 3
  • CRNR2 3
  • CNR2 3

External Ids for PCDHA6 Gene

Previous HGNC Symbols for PCDHA6 Gene

  • CNRS2

Previous GeneCards Identifiers for PCDHA6 Gene

  • GC05P140024
  • GC05P140753
  • GC05P140155
  • GC05P140210
  • GC05P140217
  • GC05P140172
  • GC05P140187
  • GC05P140321
  • GC05P140342
  • GC05P135352
  • GC05P140362
  • GC05P140378
  • GC05P140392
  • GC05P140406
  • GC05P140422
  • GC05P140439
  • GC05P140456
  • GC05P141238
  • GC05P141487

Summaries for PCDHA6 Gene

Entrez Gene Summary for PCDHA6 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 PCDHA6 Gene

PCDHA6 (Protocadherin Alpha 6) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA5.

UniProtKB/Swiss-Prot for PCDHA6 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 PCDHA6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHA6 Gene

Genomics for PCDHA6 Gene

Regulatory Elements for PCDHA6 Gene

Genomic Location for PCDHA6 Gene

Chromosome:
5
Start:
140,827,922 bp from pter
End:
141,012,344 bp from pter
Size:
184,423 bases
Orientation:
Plus strand

Genomic View for PCDHA6 Gene

Genes around PCDHA6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHA6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHA6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHA6 Gene

Proteins for PCDHA6 Gene

  • Protein details for PCDHA6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN73-PCDA6_HUMAN
    Recommended name:
    Protocadherin alpha-6
    Protein Accession:
    Q9UN73
    Secondary Accessions:
    • O75283
    • Q9NRT8

    Protein attributes for PCDHA6 Gene

    Size:
    950 amino acids
    Molecular mass:
    102716 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAF89691.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDHA6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHA6 Gene

Proteomics data for PCDHA6 Gene at MOPED

Post-translational modifications for PCDHA6 Gene

  • Glycosylation at Asn 257, Asn 265, Asn 386, and Asn 548
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHA6 Gene

Antibody Products

No data available for DME Specific Peptides for PCDHA6 Gene

Domains & Families for PCDHA6 Gene

Gene Families for PCDHA6 Gene

Protein Domains for PCDHA6 Gene

Suggested Antigen Peptide Sequences for PCDHA6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN73

UniProtKB/Swiss-Prot:

PCDA6_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHA6: view

Function for PCDHA6 Gene

Molecular function for PCDHA6 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 for PCDHA6 Gene

genes like me logo Genes that share phenotypes with PCDHA6: view

Animal Model Products

miRNA for PCDHA6 Gene

miRTarBase miRNAs that target PCDHA6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHA6 Gene

Localization for PCDHA6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHA6 Gene

Isoform 1: Cell membrane; Single-pass type I membrane protein.
Isoform 2: Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDHA6 Gene COMPARTMENTS Subcellular localization image for PCDHA6 gene
Compartment Confidence
plasma membrane 4
extracellular 3

Gene Ontology (GO) - Cellular Components for PCDHA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCDHA6: view

Pathways & Interactions for PCDHA6 Gene

genes like me logo Genes that share pathways with PCDHA6: view

Pathways by source for PCDHA6 Gene

1 KEGG pathway for PCDHA6 Gene
1 Qiagen pathway for PCDHA6 Gene

Gene Ontology (GO) - Biological Process for PCDHA6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,TAS 10380929
genes like me logo Genes that share ontologies with PCDHA6: view

No data available for SIGNOR curated interactions for PCDHA6 Gene

Drugs & Compounds for PCDHA6 Gene

(1) Drugs for PCDHA6 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 PCDHA6: view

Transcripts for PCDHA6 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHA6 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b
SP1: - - - - - - - - - - - - - - - -
SP2: - - - - - - - - - - - - - - - - - -
SP3: - - - - - -
SP4: - - -
SP5: -
SP6:
SP7: - - - - - - - - - - - - - - -
SP8: - - - - - - - - - - - -
SP9: - - - - - - - - - - - - -
SP10: - - - - - - - - - - -
SP11: - - - - - - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - -
SP15: - - - - - - -
SP16: - - - - -
SP17: - - - -
SP18: - -

Relevant External Links for PCDHA6 Gene

GeneLoc Exon Structure for
PCDHA6
ECgene alternative splicing isoforms for
PCDHA6

Expression for PCDHA6 Gene

mRNA expression in normal human tissues for PCDHA6 Gene

mRNA differential expression in normal tissues according to GTEx for PCDHA6 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.0) and Brain - Frontal Cortex (BA9) (x5.1).
genes like me logo Genes that share expression patterns with PCDHA6: view

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PCDHA6 Gene

Orthologs for PCDHA6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHA6 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LOC540057 35
  • 76.87 (n)
  • 76.62 (a)
-- 36
  • 84 (a)
OneToMany
dog
(Canis familiaris)
Mammalia PCDHA6 35
  • 85.97 (n)
  • 84.31 (a)
-- 36
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pcdha6 35
  • 83.65 (n)
  • 85.52 (a)
Pcdha6 16
chimpanzee
(Pan troglodytes)
Mammalia PCDHA6 35
  • 99.23 (n)
  • 99.16 (a)
PCDHA6 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdha6 35
  • 83.16 (n)
  • 85.2 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
ManyToMany
-- 36
  • 68 (a)
ManyToMany
-- 36
  • 69 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 36
  • 49 (a)
ManyToMany
PCDHA11 36
  • 54 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 53 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 54 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
-- 36
  • 56 (a)
ManyToMany
-- 36
  • 58 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
-- 36
  • 52 (a)
ManyToMany
-- 36
  • 55 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100490196 35
  • 55.33 (n)
  • 50 (a)
zebrafish
(Danio rerio)
Actinopterygii CR847851.6 36
  • 42 (a)
ManyToMany
CR847851.8 36
  • 41 (a)
ManyToMany
CT573264.4 36
  • 42 (a)
ManyToMany
CT573264.5 36
  • 42 (a)
ManyToMany
pcdh1a6 36
  • 41 (a)
ManyToMany
pcdh2ab1 36
  • 42 (a)
ManyToMany
pcdh2ab10 36
  • 41 (a)
ManyToMany
pcdh2ab11 36
  • 42 (a)
ManyToMany
pcdh2ab12 36
  • 43 (a)
ManyToMany
pcdh2ab2 36
  • 41 (a)
ManyToMany
pcdh2ab2 36
  • 41 (a)
ManyToMany
pcdh2ab3 36
  • 43 (a)
ManyToMany
pcdh2ab6 36
  • 42 (a)
ManyToMany
pcdh2ab7 36
  • 41 (a)
ManyToMany
pcdh2ab8 36
  • 43 (a)
ManyToMany
pcdh2ab9 36
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 32 (a)
ManyToMany
CSA.7308 36
  • 20 (a)
ManyToMany
Species with no ortholog for PCDHA6:
  • 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 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHA6 Gene

ENSEMBL:
Gene Tree for PCDHA6 (if available)
TreeFam:
Gene Tree for PCDHA6 (if available)

Paralogs for PCDHA6 Gene

genes like me logo Genes that share paralogs with PCDHA6: view

Variants for PCDHA6 Gene

Sequence variations from dbSNP and Humsavar for PCDHA6 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_061061 -

Structural Variations from Database of Genomic Variants (DGV) for PCDHA6 Gene

Variant ID Type Subtype PubMed ID
nsv830508 CNV Loss 17160897
nsv882950 CNV Loss 21882294
dgv6343n71 CNV Loss 21882294
dgv1856e1 CNV Complex 17122850
dgv1857e1 CNV Complex 17122850
nsv882952 CNV Loss 21882294
dgv6344n71 CNV Loss 21882294
dgv970n67 CNV Gain 20364138
esv8310 CNV Loss 19470904
nsv882956 CNV Loss 21882294
nsv882957 CNV Loss 21882294
dgv6345n71 CNV Loss 21882294
nsv882960 CNV Gain 21882294
esv2730838 CNV Deletion 23290073
nsv10752 CNV Gain+Loss 18304495
dgv6346n71 CNV Loss 21882294
esv21596 CNV Gain 19812545
nsv882965 CNV Gain+Loss 21882294
nsv436885 CNV Insertion 17901297
esv27071 CNV Loss 19812545
esv33939 CNV Gain+Loss 17666407
dgv6347n71 CNV Loss 21882294
nsv823251 CNV Gain 20364138
dgv1043e199 CNV Deletion 23128226
esv2730839 CNV Deletion 23290073
esv26168 CNV Gain 19812545
dgv971n67 CNV Loss 20364138
nsv820841 CNV Deletion 20802225
nsv10753 CNV Gain 18304495
nsv819207 CNV Gain 19587683
dgv972n67 CNV Gain 20364138
dgv1044e199 CNV Deletion 23128226
esv29977 CNV Gain 17803354
nsv514324 CNV Loss 21397061
esv2421858 CNV Deletion 20811451
nsv442962 CNV CNV 18776908
dgv724n27 CNV Loss 19166990
nsv437955 CNV Loss 16468122
nsv515909 CNV Loss 19592680
esv2657537 CNV Deletion 23128226
nsv823262 CNV Gain 20364138
nsv823263 CNV Gain 20364138
nsv823264 CNV Gain 20364138
nsv882970 CNV Loss 21882294
nsv10754 CNV Gain 18304495
esv2505753 CNV Deletion 19546169

Variation tolerance for PCDHA6 Gene

Residual Variation Intolerance Score: 46.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.29; 53.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHA6 Gene

HapMap Linkage Disequilibrium report
PCDHA6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHA6 Gene

Disorders for PCDHA6 Gene

Relevant External Links for PCDHA6

Genetic Association Database (GAD)
PCDHA6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHA6

No disorders were found for PCDHA6 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHA6 Gene

Publications for PCDHA6 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 67
  2. Genomic organization of the family of CNR cadherin genes in mice and humans. (PMID: 10662547) Sugino H. … Yagi T. (Genomics 2000) 2 3
  3. Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. (PMID: 22589738) Fox C.S. … Borecki I.B. (PLoS Genet. 2012) 3
  4. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PMID: 21145461) Bennett E.J. … Harper J.W. (Cell 2010) 3
  5. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PMID: 17474147) Wu C. … Li S.S. (Proteomics 2007) 3

Products for PCDHA6 Gene

Sources for PCDHA6 Gene

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