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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
  • Protocadherin Alpha-C2 3

External Ids for PCDHAC2 Gene

Previous GeneCards Identifiers for PCDHAC2 Gene

  • GC05P140079
  • GC05P140761
  • GC05P140215
  • GC05P140222
  • GC05P140177
  • GC05P140179
  • GC05P140326
  • GC05P140345
  • GC05P135490
  • GC05P141438
  • GC05P141573
  • GC05P141675
  • GC05P141776
  • GC05P141877

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. Diseases associated with PCDHAC2 include Spherocytosis, Hereditary, Type 5. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHA8.

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 CIViC summary , 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 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
GH05G140588 1.6 FANTOM5 Ensembl ENCODE 19.6 -375.8 -375807 4.1 HDGF CREB3L1 ARNT ZFP64 ARID4B SIN3A ZNF2 ZNF143 FOS DEK APBB3 PCDHB19P CD14 IGIP PCDHB17P PCDHAC2 ENSG00000272070 SLC35A4 PCDHA2 PCDHB18P
GH05G141506 2 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +550.3 550317 20.0 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 PCDHGC4 DIAPH1 PCDHGB6 PCDHGA2 PCDHGC5 PCDHGA11 RN7SL68P PCDHGC3 PCDHGB7 PCDHGA10
GH05G141001 1.5 FANTOM5 Ensembl ENCODE 12.9 +37.1 37100 4.3 PKNOX1 SIN3A FEZF1 ZNF121 FOS ZNF263 TSHZ1 REST SREBF1 MAFF PCDHAC2 PCDHB1 PCDHA9 PCDHA7 PCDHA8 PCDHA4 PCDHA3 PCDHB2 DND1 PCDHAC1
GH05G141563 1.6 Ensembl ENCODE dbSUPER 10.9 +598.3 598251 1.4 PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF207 FOS PCDHA3 PCDHB8 PCDHB3 PCDHB9 PCDHB7 PCDHB15 PCDHGC3 PCDHGB2 ENSG00000272108 PCDHB4
GH05G140239 1.5 Ensembl ENCODE dbSUPER 10.9 -722.4 -722392 8.6 PKNOX1 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 ZNF121 PFDN1 IGIP DNAJC18 PCDHA5 PCDHA10 PCDHA2 PCDHAC2 PCDHB17P PCDHA1 PCDHA3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000187830 438 801 ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF263 SP3 MXD4 REST ZNF579

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

Post-translational modifications for PCDHAC2 Gene

  • Glycosylation at posLast=280280, posLast=436436, posLast=586586, and posLast=657657
  • 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

Suggested Antigen Peptide Sequences for PCDHAC2 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PCDHAC2 Gene

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.

Gene Ontology (GO) - Molecular Function for PCDHAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHAC2: view

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

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
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 PCDHAC2 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PCDHAC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane TAS 10380929
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 TAS 10380929
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007267 cell-cell signaling IBA --
GO:0007399 nervous system development TAS,IBA --
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

CRISPR Products

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of PCDHAC2 Gene:

PCDHAC2

Evidence on tissue expression from TISSUES for PCDHAC2 Gene

  • Nervous system(5)
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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia PCDHA2 35
  • 100 (a)
OneToOne
PCDHAC2 34
  • 99.74 (n)
dog
(Canis familiaris)
Mammalia PCDHAC2 35
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdha2 35
  • 93 (a)
OneToOne
Pcdhac2 34 16
  • 89.3 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhac2 34
  • 89.13 (n)
cow
(Bos Taurus)
Mammalia PCDHGC3 35
  • 40 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PCDHAC2 35
  • 40 (a)
OneToOne
chicken
(Gallus gallus)
Aves PCDHAC2 34
  • 70.98 (n)
PCDHGC3 35
  • 41 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PCDHAC2 35
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pcdhac2 34
  • 63.96 (n)
zebrafish
(Danio rerio)
Actinopterygii pcdh2ac 34
  • 57.5 (n)
PCDHAC2 35
  • 44 (a)
OneToMany
Species where no ortholog for PCDHAC2 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)
  • 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

Sequence variations from dbSNP and Humsavar for PCDHAC2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1000122176 -- 140,965,777(+) TTTGC(C/T)TACAG intron-variant, upstream-variant-2KB
rs1000356638 -- 140,999,029(+) TGATA(C/T)TTCGT intron-variant
rs1000598682 -- 140,966,096(+) GATCC(A/G)CCGCC intron-variant, upstream-variant-2KB
rs1000754704 -- 141,007,303(+) CTTAG(A/C)ATTTT intron-variant
rs1000945193 -- 140,994,078(+) GGAGA(A/C)ATGTA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2759382 CNV gain 17122850
nsv1031849 CNV loss 25217958

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
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHAC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHAC2 Gene

Disorders for PCDHAC2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHAC2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spherocytosis, hereditary, type 5
  • hereditary spherocytosis type 5
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCDHAC2

Genetic Association Database (GAD)
PCDHAC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHAC2
genes like me logo Genes that share disorders with PCDHAC2: view

No data available for 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 64
  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 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
  5. 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 64

Products for PCDHAC2 Gene

Sources for PCDHAC2 Gene

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