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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
  • 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

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. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGA11.

UniProtKB/Swiss-Prot for PCDHB8 Gene

  • Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.

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

Genomics for PCDHB8 Gene

Regulatory Elements for PCDHB8 Gene

Promoters for PCDHB8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PCDHB8 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHB8 Gene

Chromosome:
5
Start:
141,177,790 bp from pter
End:
141,180,529 bp from pter
Size:
2,740 bases
Orientation:
Plus strand

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:
    No Data Available

neXtProt entry for PCDHB8 Gene

Proteomics data for PCDHB8 Gene at MOPED

Post-translational modifications for PCDHB8 Gene

  • Glycosylation at Asn 419, Asn 437, and Asn 568
  • Modification sites at PhosphoSitePlus

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

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 :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHB8: view

Function for PCDHB8 Gene

Molecular function for PCDHB8 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.
genes like me logo Genes that share phenotypes with PCDHB8: view

Animal Model Products

miRNA for PCDHB8 Gene

miRTarBase miRNAs that target PCDHB8

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for PCDHB8 Gene 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:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PCDHB8: view

Pathways & Interactions for PCDHB8 Gene

SuperPathways for PCDHB8 Gene

No Data Available

Interacting Proteins for PCDHB8 Gene

STRING Interaction Network Preview (showing 4 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000239444%0d%0a9606.ENSP00000362481%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000344456%0d%0a9606.ENSP00000311113%0d%0a
Selected Interacting proteins: ENSP00000239444 for PCDHB8 Gene via STRING

Gene Ontology (GO) - Biological Process for PCDHB8 Gene

None

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 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:

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 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



SOURCE GeneReport for Unigene cluster for PCDHB8 Gene Hs.287793

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

Protein tissue co-expression partners for PCDHB8 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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 35
  • 98.96 (n)
  • 98.63 (a)
PCDHB8 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 36
  • 82 (a)
OneToMany
PCDHB8 35
  • 84.84 (n)
  • 81.86 (a)
mouse
(Mus musculus)
Mammalia Pcdhb16 35
  • 79.61 (n)
  • 75.03 (a)
Pcdhb16 16
Pcdhb16 36
  • 75 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 64 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 65 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
-- 36
  • 64 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
ManyToMany
-- 36
  • 62 (a)
ManyToMany
-- 36
  • 63 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia LOC690826 35
  • 79.1 (n)
  • 74.75 (a)
Species with no ortholog for PCDHB8:
  • 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 Sequence Context AA Info Type
rs3733694 - 141,178,947(-) TTTCT(C/T)TAGTC reference, missense
rs7700833 - 141,178,999(+) CGAGG(A/C/T)GAGAG reference, missense
VAR_024393 -
rs2950845 - 141,178,631(-) AGCGC(A/G/T)TTGTC reference, missense
rs2950844 - 141,178,764(-) CTGCT(C/G)AAATT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv1857e1 CNV Complex 17122850
nsv428127 CNV Loss 18775914
dgv6348n71 CNV Loss 21882294
nsv471634 CNV Gain+Loss 15918152
dgv6349n71 CNV Loss 21882294
dgv1858e1 CNV Complex 17122850
dgv6350n71 CNV Loss 21882294
nsv509092 CNV Insertion 20534489
nsv823266 CNV Gain 20364138
dgv1005e201 CNV Deletion 23290073
esv2730842 CNV Deletion 23290073
nsv819721 CNV Gain 19587683
esv28212 CNV Gain 19812545
dgv973n67 CNV Gain 20364138
nsv10756 CNV Gain 18304495
nsv499084 CNV Gain 21111241
esv33618 CNV Gain+Loss 17666407
esv2664767 CNV Deletion 23128226
nsv5031 CNV Insertion 18451855
nsv471439 CNV Duplication 19718026
nsv882981 CNV Gain 21882294

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)

Relevant External Links for PCDHB8 Gene

HapMap Linkage Disequilibrium report
PCDHB8

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

Disorders for PCDHB8 Gene

Relevant External Links for PCDHB8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHB8

No disorders were found for PCDHB8 Gene.

No data available for MalaCards , 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 67
  2. A whole genome screen for HIV restriction factors. (PMID: 22082156) Liu L. … McKnight A. (Retrovirology 2011) 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. (PMID: 17110338) Wang X. … Balch W.E. (Cell 2006) 3
  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

Products for PCDHB8 Gene

Sources for PCDHB8 Gene

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