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Aliases for PCDHA12 Gene

Aliases for PCDHA12 Gene

  • Protocadherin Alpha 12 2 3 5
  • KIAA0345-Like 2 2 3
  • PCDH-Alpha-12 3 4
  • Protocadherin Alpha-12 3
  • PCDH-ALPHA12 3

External Ids for PCDHA12 Gene

Previous GeneCards Identifiers for PCDHA12 Gene

  • GC05P140071
  • GC05P140759
  • GC05P140204
  • GC05P140197
  • GC05P140168
  • GC05P140240
  • GC05P140249
  • GC05P140258
  • GC05P140267
  • GC05P140277
  • GC05P140287
  • GC05P140298
  • GC05P140307
  • GC05P140319
  • GC05P140328
  • GC05P140340
  • GC05P135399
  • GC05P140360
  • GC05P140380
  • GC05P140390
  • GC05P140403
  • GC05P140420
  • GC05P140437
  • GC05P140451
  • GC05P141435
  • GC05P141570
  • GC05P141672

Summaries for PCDHA12 Gene

Entrez Gene Summary for PCDHA12 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 PCDHA12 Gene

PCDHA12 (Protocadherin Alpha 12) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA8.

UniProtKB/Swiss-Prot for PCDHA12 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 PCDHA12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHA12 Gene

Genomics for PCDHA12 Gene

Regulatory Elements for PCDHA12 Gene

Enhancers for PCDHA12 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
- Elite enhancer/Elite enhancer-gene association

Enhancers around PCDHA12 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHA12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDHA12 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHA12 Gene

Chromosome:
5
Start:
140,875,302 bp from pter
End:
141,012,344 bp from pter
Size:
137,043 bases
Orientation:
Plus strand

Genomic View for PCDHA12 Gene

Genes around PCDHA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHA12 Gene

Proteins for PCDHA12 Gene

  • Protein details for PCDHA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN75-PCDAC_HUMAN
    Recommended name:
    Protocadherin alpha-12
    Protein Accession:
    Q9UN75
    Secondary Accessions:
    • O75278
    • Q2M1N8

    Protein attributes for PCDHA12 Gene

    Size:
    941 amino acids
    Molecular mass:
    101652 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHA12 Gene

Post-translational modifications for PCDHA12 Gene

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

Other Protein References for PCDHA12 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHA12 Gene

Domains & Families for PCDHA12 Gene

Gene Families for PCDHA12 Gene

Protein Domains for PCDHA12 Gene

Suggested Antigen Peptide Sequences for PCDHA12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN75

UniProtKB/Swiss-Prot:

PCDAC_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHA12: view

Function for PCDHA12 Gene

Molecular function for PCDHA12 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 PCDHA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHA12: view
genes like me logo Genes that share phenotypes with PCDHA12: view

Animal Model Products

CRISPR Products

miRNA for PCDHA12 Gene

miRTarBase miRNAs that target PCDHA12

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHA12 Gene

Localization for PCDHA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHA12 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PCDHA12 Gene COMPARTMENTS Subcellular localization image for PCDHA12 gene
Compartment Confidence
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PCDHA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHA12: view

Pathways & Interactions for PCDHA12 Gene

SuperPathways for PCDHA12 Gene

No Data Available

Interacting Proteins for PCDHA12 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 6)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000381628%0d%0a9606.ENSP00000300574%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000344456%0d%0a9606.ENSP00000311113%0d%0a
Selected Interacting proteins: ENSP00000381628 Q9UN75-PCDAC_HUMAN for PCDHA12 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PCDHA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with PCDHA12: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHA12 Gene

Drugs & Compounds for PCDHA12 Gene

(1) Drugs for PCDHA12 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 PCDHA12: view

Transcripts for PCDHA12 Gene

mRNA/cDNA for PCDHA12 Gene

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHA12 Gene

No ASD Table

Relevant External Links for PCDHA12 Gene

GeneLoc Exon Structure for
PCDHA12
ECgene alternative splicing isoforms for
PCDHA12

Expression for PCDHA12 Gene

mRNA expression in normal human tissues for PCDHA12 Gene

mRNA differential expression in normal tissues according to GTEx for PCDHA12 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x8.2), Brain - Cerebellum (x5.0), and Testis (x4.2).

Protein differential expression in normal tissues from HIPED for PCDHA12 Gene

This gene is overexpressed in Cerebrospinal fluid (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHA12 Gene



Protein tissue co-expression partners for PCDHA12 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHA12 Gene:

PCDHA12
genes like me logo Genes that share expression patterns with PCDHA12: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for PCDHA12 Gene

Orthologs for PCDHA12 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHA12 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Pcdha10 34
  • 77.97 (n)
  • 78.99 (a)
Pcdha10 16
chimpanzee
(Pan troglodytes)
Mammalia PCDHA12 34
  • 99.47 (n)
  • 99.68 (a)
rat
(Rattus norvegicus)
Mammalia Pcdha11 34
  • 78.31 (n)
  • 78.53 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 62 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 64 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 67 (a)
ManyToMany
chicken
(Gallus gallus)
Aves -- 35
  • 46 (a)
ManyToMany
PCDHA11 35
  • 52 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 51 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 52 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 55 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 54 (a)
ManyToMany
-- 35
  • 50 (a)
ManyToMany
-- 35
  • 53 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii CR847851.6 35
  • 41 (a)
ManyToMany
CR847851.8 35
  • 41 (a)
ManyToMany
CT573264.4 35
  • 41 (a)
ManyToMany
CT573264.5 35
  • 42 (a)
ManyToMany
pcdh1a6 35
  • 41 (a)
ManyToMany
pcdh2ab1 35
  • 43 (a)
ManyToMany
pcdh2ab10 35
  • 41 (a)
ManyToMany
pcdh2ab11 35
  • 42 (a)
ManyToMany
pcdh2ab12 35
  • 42 (a)
ManyToMany
pcdh2ab2 35
  • 41 (a)
ManyToMany
pcdh2ab2 35
  • 41 (a)
ManyToMany
pcdh2ab3 35
  • 42 (a)
ManyToMany
pcdh2ab6 35
  • 41 (a)
ManyToMany
pcdh2ab7 35
  • 41 (a)
ManyToMany
pcdh2ab8 35
  • 42 (a)
ManyToMany
pcdh2ab9 35
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 32 (a)
ManyToMany
CSA.7308 35
  • 19 (a)
ManyToMany
Species where no ortholog for PCDHA12 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)
  • cow (Bos Taurus)
  • 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 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)

Evolution for PCDHA12 Gene

ENSEMBL:
Gene Tree for PCDHA12 (if available)
TreeFam:
Gene Tree for PCDHA12 (if available)

Paralogs for PCDHA12 Gene

genes like me logo Genes that share paralogs with PCDHA12: view

Variants for PCDHA12 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCDHA12 Gene

Variant ID Type Subtype PubMed ID
esv2505753 CNV deletion 19546169
esv2759382 CNV gain 17122850
esv3606959 CNV gain 21293372
nsv1031849 CNV loss 25217958
nsv10754 CNV gain 18304495
nsv599904 CNV loss 21841781
nsv823264 CNV gain 20364138
nsv964956 CNV duplication 23825009
nsv968252 CNV duplication 23825009
nsv968992 CNV duplication 23825009

Variation tolerance for PCDHA12 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.67; 57.02% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHA12 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHA12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for PCDHA12 Gene

Disorders for PCDHA12 Gene

Relevant External Links for PCDHA12

Genetic Association Database (GAD)
PCDHA12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHA12

No disorders were found for PCDHA12 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHA12 Gene

Publications for PCDHA12 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 65
  2. The DNA sequence and comparative analysis of human chromosome 5. (PMID: 15372022) Schmutz J. … Rubin E.M. (Nature 2004) 3 4 65
  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 65
  4. 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 65
  5. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PMID: 16303743) Otsuki T. … Isogai T. (DNA Res. 2005) 3 65

Products for PCDHA12 Gene

Sources for PCDHA12 Gene

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