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Aliases for PCDHGC3 Gene

Aliases for PCDHGC3 Gene

  • Protocadherin Gamma Subfamily C, 3 2 3 5
  • Protocadherin 43 2 3
  • Cadherin-Like 2 2 3
  • Protocadherin-2 3 4
  • PCDH-GAMMA-C3 3 4
  • PCDH2 3 4
  • Protocadherin Gamma-C3 3
  • Protocadherin-43 4
  • Protocadherin 2 2
  • PC-43 4
  • PC43 3

External Ids for PCDHGC3 Gene

Previous HGNC Symbols for PCDHGC3 Gene

  • PCDH2

Previous GeneCards Identifiers for PCDHGC3 Gene

  • GC05P140591
  • GC05P141319
  • GC05P140716
  • GC05P140774
  • GC05P140795
  • GC05P140734
  • GC05P140743
  • GC05P140856
  • GC05P140860
  • GC05P140886
  • GC05P140908
  • GC05P140918
  • GC05P140940
  • GC05P140961
  • GC05P140983
  • GC05P141012
  • GC05P141055
  • GC05P141076
  • GC05P136000
  • GC05P141122
  • GC05P141137
  • GC05P141188
  • GC05P141221
  • GC05P141261
  • GC05P141338
  • GC05P141395

Summaries for PCDHGC3 Gene

Entrez Gene Summary for PCDHGC3 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 PCDHGC3 Gene

PCDHGC3 (Protocadherin Gamma Subfamily C, 3) is a Protein Coding gene. Diseases associated with PCDHGC3 include Nonsyndromic Deafness. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGB4.

UniProtKB/Swiss-Prot for PCDHGC3 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 PCDHGC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHGC3 Gene

Genomics for PCDHGC3 Gene

Regulatory Elements for PCDHGC3 Gene

Enhancers for PCDHGC3 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
GH05G141506 2 FANTOM5 Ensembl ENCODE dbSUPER 12 +40.5 40532 20.0 HDGF PKNOX1 FOXA2 MLX WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 PCDHGC4 DIAPH1 PCDHGB6 PCDHGA2 PCDHGC5 PCDHGA11 RN7SL68P PCDHGC3 PCDHGB7 PCDHGA10
GH05G141563 1.6 Ensembl ENCODE dbSUPER 12.7 +88.5 88466 1.4 PKNOX1 ARNT SIN3A DMAP1 ZNF2 YY1 CBX5 ZNF143 ZNF207 FOS PCDHA3 PCDHB8 PCDHB3 PCDHB9 PCDHB7 PCDHB15 PCDHGC3 PCDHGB2 ENSG00000272108 PCDHB4
GH05G142314 1.6 Ensembl ENCODE dbSUPER 12.5 +845.8 845774 13.8 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 ZNF143 PCDHGB2 PCDHGC3 NDFIP1 PCDHGC4 PCDHGB1 PCDHGA11 LINC01844 ENSG00000261757 SPRY4-AS1 SPRY4-IT1
GH05G141811 1.4 FANTOM5 ENCODE dbSUPER 12.5 +335.9 335921 1.4 CTCF MXI1 TEAD4 MAX RBBP5 SALL2 CHD7 ZNF2 RAD21 TEAD3 PCDHGB2 PCDHGC3 PCDHGC4 NDFIP1 PCDHA5 PCDHA10 PCDHAC2 PCDHGB1 PCDHB17P HDAC3
GH05G142431 1.4 Ensembl ENCODE dbSUPER 12.5 +957.0 957040 2.5 ZNF2 RAD21 ZNF766 ZNF366 GATA2 EGR2 MIER1 ZEB2 REST ZNF148 RPL7P21 LINC01844 PCDHGC3 NDFIP1 PCDHGC4 SPRY4 SPRY4-AS1 HDAC3 KIAA0141 GC05P142406
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHGC3 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHGC3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000187865 99 1400 PKNOX1 TBL1XR1 NFIB SIN3A ZNF2 RAD21 YY1 ZNF335 ZNF263 ZNF654

Genomic Location for PCDHGC3 Gene

Chromosome:
5
Start:
141,475,947 bp from pter
End:
141,512,979 bp from pter
Size:
37,033 bases
Orientation:
Plus strand

Genomic View for PCDHGC3 Gene

Genes around PCDHGC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGC3 Gene

Proteins for PCDHGC3 Gene

  • Protein details for PCDHGC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN70-PCDGK_HUMAN
    Recommended name:
    Protocadherin gamma-C3
    Protein Accession:
    Q9UN70
    Secondary Accessions:
    • O60622
    • Q08192
    • Q9Y5C4

    Protein attributes for PCDHGC3 Gene

    Size:
    934 amino acids
    Molecular mass:
    101077 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA36421.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. The C-terminus matches chromosome 8 region.; Evidence={ECO:0000305}; Sequence=AAA75391.1; Type=Frameshift; Positions=254, 259, 905, 914, 918, 930; Evidence={ECO:0000305};

    Alternative splice isoforms for PCDHGC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGC3 Gene

Post-translational modifications for PCDHGC3 Gene

  • Glycosylation at posLast=245245, Asn424, Asn478, Asn550, Asn615, posLast=643643, and posLast=689689
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHGC3 Gene

No data available for DME Specific Peptides for PCDHGC3 Gene

Domains & Families for PCDHGC3 Gene

Gene Families for PCDHGC3 Gene

Suggested Antigen Peptide Sequences for PCDHGC3 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHGC3: view

No data available for UniProtKB/Swiss-Prot for PCDHGC3 Gene

Function for PCDHGC3 Gene

Molecular function for PCDHGC3 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 PCDHGC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGC3: view
genes like me logo Genes that share phenotypes with PCDHGC3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PCDHGC3

CRISPR Products

miRNA for PCDHGC3 Gene

miRTarBase miRNAs that target PCDHGC3

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHGC3 Gene

Localization for PCDHGC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGC3 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 PCDHGC3 gene
Compartment Confidence
extracellular 5
plasma membrane 3

Gene Ontology (GO) - Cellular Components for PCDHGC3 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 NAS 8508762
GO:0016021 integral component of membrane IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with PCDHGC3: view

Pathways & Interactions for PCDHGC3 Gene

SuperPathways for PCDHGC3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDHGC3 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 --
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 8508762
genes like me logo Genes that share ontologies with PCDHGC3: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGC3 Gene

Drugs & Compounds for PCDHGC3 Gene

(1) Drugs for PCDHGC3 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 PCDHGC3: view

Transcripts for PCDHGC3 Gene

Unigene Clusters for PCDHGC3 Gene

Protocadherin gamma subfamily C, 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGC3 Gene

No ASD Table

Relevant External Links for PCDHGC3 Gene

GeneLoc Exon Structure for
PCDHGC3
ECgene alternative splicing isoforms for
PCDHGC3

Expression for PCDHGC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHGC3 Gene

Protein differential expression in normal tissues from HIPED for PCDHGC3 Gene

This gene is overexpressed in Gallbladder (35.9), Urine (18.1), and Ovary (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCDHGC3 Gene



Protein tissue co-expression partners for PCDHGC3 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCDHGC3 Gene:

PCDHGC3

SOURCE GeneReport for Unigene cluster for PCDHGC3 Gene:

Hs.368160

Evidence on tissue expression from TISSUES for PCDHGC3 Gene

  • Nervous system(4.2)
  • Liver(4)
  • Skin(4)
genes like me logo Genes that share expression patterns with PCDHGC3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHGC3 Gene

Orthologs for PCDHGC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGC3 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia PCDHGC3 34
  • 89.55 (n)
mouse
(Mus musculus)
Mammalia Pcdhgc3 34 16
  • 87.99 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhgc3 34
  • 87.7 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 39 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 37 (a)
ManyToMany
chicken
(Gallus gallus)
Aves PCDHGC3 34
  • 66.4 (n)
-- 35
  • 37 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 45 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
-- 35
  • 39 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 38 (a)
ManyToMany
-- 35
  • 37 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii AL929558.1 35
  • 41 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
ManyToMany
CSA.7308 35
  • 18 (a)
ManyToMany
Species where no ortholog for PCDHGC3 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)
  • oppossum (Monodelphis domestica)
  • 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 PCDHGC3 Gene

ENSEMBL:
Gene Tree for PCDHGC3 (if available)
TreeFam:
Gene Tree for PCDHGC3 (if available)

Paralogs for PCDHGC3 Gene

genes like me logo Genes that share paralogs with PCDHGC3: view

Variants for PCDHGC3 Gene

Sequence variations from dbSNP and Humsavar for PCDHGC3 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs386352347 Uncertain significance 141,485,635(+) CCGTT(A/G)GAAAA intron-variant, reference, synonymous-codon
rs1000138324 -- 141,499,091(+) GGCAC(A/C)TGCTT intron-variant
rs1000179570 -- 141,485,122(+) GGCGG(C/G)TCGGC intron-variant, upstream-variant-2KB
rs1000222118 -- 141,482,017(+) GAAGC(A/G)GAGGT intron-variant
rs1000330093 -- 141,511,812(+) CAAGC(C/T)TCTTC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for PCDHGC3 Gene

Variant ID Type Subtype PubMed ID
esv25744 CNV gain 19812545
nsv1123990 CNV deletion 24896259
nsv1125852 CNV tandem duplication 24896259
nsv462470 CNV loss 19166990
nsv599923 CNV loss 21841781

Variation tolerance for PCDHGC3 Gene

Residual Variation Intolerance Score: 7.77% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.67; 31.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHGC3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGC3 Gene

Disorders for PCDHGC3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHGC3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
nonsyndromic deafness
  • nonsyndromic hearing loss
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PCDHGC3

Genetic Association Database (GAD)
PCDHGC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHGC3
genes like me logo Genes that share disorders with PCDHGC3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHGC3 Gene

Publications for PCDHGC3 Gene

  1. Nonsyndromic deafness DFNA1 associated with mutation of a human homolog of the Drosophila gene diaphanous. (PMID: 9360932) Lynch E.D. … King M.-C. (Science 1997) 2 3 4 64
  2. Protocadherins: a large family of cadherin-related molecules in central nervous system. (PMID: 8508762) Sano K. … Suzuki S. (EMBO J. 1993) 2 3 4 64
  3. 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) 3 4 64
  4. A striking organization of a large family of human neural cadherin- like cell adhesion genes. (PMID: 10380929) Wu Q. … Maniatis T. (Cell 1999) 3 4 64
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3 64

Products for PCDHGC3 Gene

Sources for PCDHGC3 Gene

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