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Aliases for PCDHB8 Gene

Aliases for PCDHB8 Gene

  • Protocadherin Beta 8 2 3 5
  • Protocadherin-3i 3 4
  • PCDH3I 3 4
  • Protocadherin Beta-8 3
  • PCDH-Beta-8 4
  • PCDH-BETA8 3

External Ids for PCDHB8 Gene

Previous GeneCards Identifiers for PCDHB8 Gene

  • GC05P140373
  • GC05P141140
  • GC05P140541
  • GC05P140585
  • GC05P140537
  • GC05P135702
  • GC05P140557
  • GC05P141353
  • GC05P141502
  • GC05P141609
  • GC05P141712
  • GC05P141811
  • GC05P141910
  • GC05P142018

Summaries for PCDHB8 Gene

Entrez Gene Summary for PCDHB8 Gene

  • This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHB8 Gene

PCDHB8 (Protocadherin Beta 8) is a Protein Coding gene. Diseases associated with PCDHB8 include Protocadherin-Beta Gene Cluster. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHB13.

UniProtKB/Swiss-Prot for PCDHB8 Gene

  • Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.

Additional gene information for PCDHB8 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHB8 Gene

Genomics for PCDHB8 Gene

GeneHancer (GH) Regulatory Elements for PCDHB8 Gene

Promoters and enhancers for PCDHB8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05I141177 Promoter 0.7 EPDnew 550.8 +0.0 10 0.1 CTCF ZNF654 ENSG00000279472 PCDHB8 PCDHB16 ENSG00000280029 PCDHB@
GH05I140717 Promoter/Enhancer 1.6 Ensembl ENCODE 27.6 -458.7 -458654 2.7 MLX IRF4 ZNF213 E2F8 ZNF416 ZNF143 SP3 PPARGC1A MEF2D GLIS1 GC05P142207 VTRNA1-2 PURA PCDHB18P PCDHB19P PCDHB15 PCDHB12 PCDHB3 PCDHB9 PCDHB13
GH05I141319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.5 +142.9 142860 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 TAF7 PCDHB15 ANKHD1 ENSG00000272108 WDR55 PCDHB9 LOC102723915 FCHSD1 PCDHB18P PCDHB6
GH05I141968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17 +791.8 791777 3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RNF14 PCDH12 PCDHB18P PCDHGA6 PCDHGA7 LOC102723915 HDAC3 KIAA0141 PCDHGA5 PCDHB12
GH05I140291 Enhancer 1.4 Ensembl ENCODE dbSUPER 17.4 -882.2 -882161 7.9 PKNOX1 SMAD1 FEZF1 ZNF2 NCOA2 ZNF213 KLF7 FOS ATF7 ZNF214 PCDHB18P PURA ENSG00000272108 PCDHB19P PCDHB9 PCDHB6 PCDHB5 PCDHB10 PCDHB17P PCDHB15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDHB8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDHB8 gene promoter:

Genomic Locations for PCDHB8 Gene

Genomic Locations for PCDHB8 Gene
chr5:141,177,790-141,180,529
(GRCh38/hg38)
Size:
2,740 bases
Orientation:
Plus strand
chr5:140,557,371-140,560,081
(GRCh37/hg19)

Genomic View for PCDHB8 Gene

Genes around PCDHB8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHB8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHB8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHB8 Gene

Proteins for PCDHB8 Gene

  • Protein details for PCDHB8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN66-PCDB8_HUMAN
    Recommended name:
    Protocadherin beta-8
    Protein Accession:
    Q9UN66
    Secondary Accessions:
    • B9EGV1

    Protein attributes for PCDHB8 Gene

    Size:
    801 amino acids
    Molecular mass:
    87639 Da
    Quaternary structure:
    • Forms homodimers in trans (molecules expressed by two different cells). Forms promiscuous heterodimers in cis (at the plasma membrane of the same cell) with other protocadherins.

neXtProt entry for PCDHB8 Gene

Post-translational modifications for PCDHB8 Gene

  • Glycosylation at isoforms=419, Asn437, and isoforms=568

Other Protein References for PCDHB8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHB8 Gene

Domains & Families for PCDHB8 Gene

Gene Families for PCDHB8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for PCDHB8 Gene

Suggested Antigen Peptide Sequences for PCDHB8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9UN66

UniProtKB/Swiss-Prot:

PCDB8_HUMAN :
  • Cadherin 1 to cadherin 4 domains mediate homophilic trans-interaction, the interaction with an identical protocadherin expressed by a neighboring cell. This is a head-to-tail interaction, the cadherin 1 domain interacting with the cadherin 4 domain and the cadherin 2 domain interacting the cadherin 3 domain of the other protocadherin. The cadherin 6 domain mediates promiscuous interactions with protocadherins on the same cell membrane. Each cadherin domain binds three calcium ions.
Domain:
  • Cadherin 1 to cadherin 4 domains mediate homophilic trans-interaction, the interaction with an identical protocadherin expressed by a neighboring cell. This is a head-to-tail interaction, the cadherin 1 domain interacting with the cadherin 4 domain and the cadherin 2 domain interacting the cadherin 3 domain of the other protocadherin. The cadherin 6 domain mediates promiscuous interactions with protocadherins on the same cell membrane. Each cadherin domain binds three calcium ions.
genes like me logo Genes that share domains with PCDHB8: view

Function for PCDHB8 Gene

Molecular function for PCDHB8 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent cell-adhesion protein involved in cells self-recognition and non-self discrimination. Thereby, it is involved in the establishment and maintenance of specific neuronal connections in the brain.

Phenotypes From GWAS Catalog for PCDHB8 Gene

Gene Ontology (GO) - Molecular Function for PCDHB8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding ISS --
GO:0042802 identical protein binding ISS --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PCDHB8: view
genes like me logo Genes that share phenotypes with PCDHB8: view

miRNA for PCDHB8 Gene

miRTarBase miRNAs that target PCDHB8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHB8 Gene

Localization for PCDHB8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHB8 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 PCDHB8 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for PCDHB8 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 IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHB8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDHB8 Gene

Pathways & Interactions for PCDHB8 Gene

SuperPathways for PCDHB8 Gene

No Data Available

Interacting Proteins for PCDHB8 Gene

Gene Ontology (GO) - Biological Process for PCDHB8 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:0007268 chemical synaptic transmission IBA --
GO:0007416 synapse assembly IBA --
genes like me logo Genes that share ontologies with PCDHB8: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHB8 Gene

Drugs & Compounds for PCDHB8 Gene

(1) Drugs for PCDHB8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
genes like me logo Genes that share compounds with PCDHB8: view

Transcripts for PCDHB8 Gene

mRNA/cDNA for PCDHB8 Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for PCDHB8 Gene

Protocadherin beta 8:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHB8 Gene

No ASD Table

Relevant External Links for PCDHB8 Gene

GeneLoc Exon Structure for
PCDHB8
ECgene alternative splicing isoforms for
PCDHB8

Expression for PCDHB8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHB8 Gene

Protein differential expression in normal tissues from HIPED for PCDHB8 Gene

This gene is overexpressed in Testis (51.5), Esophagus (9.1), and Heart (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHB8 Gene



Protein tissue co-expression partners for PCDHB8 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHB8 Gene:

PCDHB8

SOURCE GeneReport for Unigene cluster for PCDHB8 Gene:

Hs.287793
genes like me logo Genes that share expression patterns with PCDHB8: view

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 , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHB8 Gene

Orthologs for PCDHB8 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PCDHB8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHB8 33 34
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia PCDHB8 33
  • 84.84 (n)
-- 34
  • 82 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Pcdhb16 33 16 34
  • 79.61 (n)
rat
(Rattus norvegicus)
Mammalia LOC690826 33
  • 79.1 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 65 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 63 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
Species where no ortholog for PCDHB8 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)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • lizard (Anolis carolinensis)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for PCDHB8 Gene

ENSEMBL:
Gene Tree for PCDHB8 (if available)
TreeFam:
Gene Tree for PCDHB8 (if available)

Paralogs for PCDHB8 Gene

genes like me logo Genes that share paralogs with PCDHB8: view

Variants for PCDHB8 Gene

Sequence variations from dbSNP and Humsavar for PCDHB8 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1005067984 -- 141,180,977(+) A/C downstream_transcript_variant
rs1005098977 -- 141,180,743(+) T/G downstream_transcript_variant
rs1011616291 -- 141,180,365(+) C/A coding_sequence_variant, synonymous_variant
rs1016534250 -- 141,180,745(+) G/A downstream_transcript_variant
rs1037934612 -- 141,180,997(+) A/G downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDHB8 Gene

Variant ID Type Subtype PubMed ID
nsv819721 CNV gain 19587683
nsv823266 CNV gain 20364138
nsv950416 CNV duplication 24416366
nsv968996 CNV duplication 23825009
nsv599918 CNV gain 21841781
nsv599908 CNV loss 21841781
nsv509092 CNV insertion 20534489
nsv5031 CNV insertion 18451855
nsv499084 CNV gain 21111241
nsv471634 CNV gain+loss 15918152
nsv471439 CNV gain 19718026
nsv428127 CNV loss 18775914
nsv1141502 CNV duplication 24896259
nsv10756 CNV gain 18304495
nsv1031792 CNV loss 25217958
nsv1024594 CNV loss 25217958
esv3606964 CNV loss 21293372
esv33618 CNV gain+loss 17666407
esv3333092 CNV duplication 20981092
esv28212 CNV gain 19812545
esv2759382 CNV gain 17122850
esv2730842 CNV deletion 23290073
esv2664767 CNV deletion 23128226
dgv973n67 CNV gain 20364138
dgv958e201 CNV deletion 23290073
dgv1141e214 CNV gain 21293372
dgv10107n54 CNV loss 21841781
dgv10106n54 CNV gain 21841781

Variation tolerance for PCDHB8 Gene

Residual Variation Intolerance Score: 95.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 20.41; 99.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHB8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHB8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHB8 Gene

Disorders for PCDHB8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHB8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
protocadherin-beta gene cluster
  • pcdhb@
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PCDHB8

genes like me logo Genes that share disorders with PCDHB8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHB8 Gene

Publications for PCDHB8 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 58
  2. The human and murine protocadherin-beta one-exon gene families show high evolutionary conservation, despite the difference in gene number. (PMID: 11322959) Vanhalst K … van Roy F (FEBS letters 2001) 3 4 58
  3. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L … McKnight A (Retrovirology 2011) 3 58
  4. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3 58
  5. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PMID: 17110338) Wang X … Balch WE (Cell 2006) 3 58

Products for PCDHB8 Gene

Sources for PCDHB8 Gene

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