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Aliases for PCDHAC2 Gene

Aliases for PCDHAC2 Gene

  • Protocadherin Alpha Subfamily C, 2 2 3 5
  • PCDH-ALPHA-C2 3 4

External Ids for PCDHAC2 Gene

Previous GeneCards Identifiers for PCDHAC2 Gene

  • GC05P140079
  • GC05P140761
  • GC05P140215
  • GC05P140222
  • GC05P140177
  • GC05P140179
  • GC05P140326
  • GC05P140345
  • GC05P135490
  • GC05P141438
  • GC05P141573

Summaries for PCDHAC2 Gene

Entrez Gene Summary for PCDHAC2 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 PCDHAC2 Gene

PCDHAC2 (Protocadherin Alpha Subfamily C, 2) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA11.

UniProtKB/Swiss-Prot for PCDHAC2 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 PCDHAC2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHAC2 Gene

Genomics for PCDHAC2 Gene

Regulatory Elements for PCDHAC2 Gene

Enhancers for PCDHAC2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PCDHAC2 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHAC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDHAC2 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHAC2 Gene

Chromosome:
5
Start:
140,966,162 bp from pter
End:
141,012,344 bp from pter
Size:
46,183 bases
Orientation:
Plus strand

Genomic View for PCDHAC2 Gene

Genes around PCDHAC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHAC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHAC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHAC2 Gene

Proteins for PCDHAC2 Gene

  • Protein details for PCDHAC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5I4-PCDC2_HUMAN
    Recommended name:
    Protocadherin alpha-C2
    Protein Accession:
    Q9Y5I4
    Secondary Accessions:
    • Q2M3V1
    • Q9Y5F4

    Protein attributes for PCDHAC2 Gene

    Size:
    1007 amino acids
    Molecular mass:
    109450 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHAC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHAC2 Gene

Proteomics data for PCDHAC2 Gene at MOPED

Post-translational modifications for PCDHAC2 Gene

  • Glycosylation at Asn 280, Asn 436, Asn 586, and Asn 657
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHAC2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHAC2 Gene

Domains & Families for PCDHAC2 Gene

Gene Families for PCDHAC2 Gene

Protein Domains for PCDHAC2 Gene

Suggested Antigen Peptide Sequences for PCDHAC2 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5I4

UniProtKB/Swiss-Prot:

PCDC2_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHAC2: view

Function for PCDHAC2 Gene

Molecular function for PCDHAC2 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 PCDHAC2 Gene

genes like me logo Genes that share phenotypes with PCDHAC2: view

Animal Models for PCDHAC2 Gene

MGI Knock Outs for PCDHAC2:

Animal Model Products

CRISPR Products

miRNA for PCDHAC2 Gene

miRTarBase miRNAs that target PCDHAC2

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PCDHAC2 Gene

Localization for PCDHAC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHAC2 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDHAC2 Gene COMPARTMENTS Subcellular localization image for PCDHAC2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PCDHAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with PCDHAC2: view

Pathways & Interactions for PCDHAC2 Gene

SuperPathways for PCDHAC2 Gene

No Data Available

Interacting Proteins for PCDHAC2 Gene

Gene Ontology (GO) - Biological Process for PCDHAC2 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 PCDHAC2: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHAC2 Gene

Drugs & Compounds for PCDHAC2 Gene

(1) Drugs for PCDHAC2 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 PCDHAC2: view

Transcripts for PCDHAC2 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHAC2 Gene

No ASD Table

Relevant External Links for PCDHAC2 Gene

GeneLoc Exon Structure for
PCDHAC2
ECgene alternative splicing isoforms for
PCDHAC2

Expression for PCDHAC2 Gene

mRNA expression in normal human tissues for PCDHAC2 Gene

mRNA differential expression in normal tissues according to GTEx for PCDHAC2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x6.7), Brain - Frontal Cortex (BA9) (x6.0), and Brain - Anterior cingulate cortex (BA24) (x5.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHAC2 Gene



genes like me logo Genes that share expression patterns with PCDHAC2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for PCDHAC2 Gene

Orthologs for PCDHAC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHAC2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Pcdhac2 35
  • 89.3 (n)
  • 93.14 (a)
Pcdhac2 16
Pcdha2 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PCDHAC2 35
  • 99.74 (n)
  • 99.9 (a)
PCDHA2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pcdhac2 35
  • 89.13 (n)
  • 93.24 (a)
cow
(Bos Taurus)
Mammalia PCDHGC3 36
  • 40 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PCDHAC2 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCDHAC2 36
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDHAC2 35
  • 70.98 (n)
  • 71.92 (a)
PCDHGC3 36
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCDHAC2 36
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdhac2 35
  • 63.96 (n)
  • 63.96 (a)
zebrafish
(Danio rerio)
Actinopterygii pcdh2ac 35
  • 57.5 (n)
  • 53.53 (a)
PCDHAC2 36
  • 44 (a)
OneToMany
Species with no ortholog for PCDHAC2:
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PCDHAC2 Gene

ENSEMBL:
Gene Tree for PCDHAC2 (if available)
TreeFam:
Gene Tree for PCDHAC2 (if available)

Paralogs for PCDHAC2 Gene

genes like me logo Genes that share paralogs with PCDHAC2: view

Variants for PCDHAC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCDHAC2 Gene

Variant ID Type Subtype PubMed ID
dgv1857e1 CNV Complex 17122850

Variation tolerance for PCDHAC2 Gene

Residual Variation Intolerance Score: 15.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHAC2 Gene

Human Gene Mutation Database (HGMD)
PCDHAC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for PCDHAC2 Gene

Disorders for PCDHAC2 Gene

Relevant External Links for PCDHAC2

Genetic Association Database (GAD)
PCDHAC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHAC2

No disorders were found for PCDHAC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHAC2 Gene

Publications for PCDHAC2 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. 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
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3
  4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3
  5. Comparative DNA sequence analysis of mouse and human protocadherin gene clusters. (PMID: 11230163) Wu Q. … Maniatis T. (Genome Res. 2001) 3

Products for PCDHAC2 Gene

Sources for PCDHAC2 Gene

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