Aliases for PCDHB3 Gene
Aliases for PCDHB3 Gene
External Ids for PCDHB3 Gene
- HGNC: 8688
- Entrez Gene: 56132
- Ensembl: ENSG00000113205
- OMIM: 606329
- UniProtKB: Q9Y5E6
Previous GeneCards Identifiers for PCDHB3 Gene
- GC05P140296
- GC05P141063
- GC05P140463
- GC05P140508
- GC05P140460
- GC05P135624
- GC05P140480
- GC05P141277
- GC05P141497
- GC05P141604
- GC05P141707
- GC05P141806
- GC05P141905
- GC05P142013
Summaries for PCDHB3 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 PCDHB3 Gene
PCDHB3 (Protocadherin Beta 3) is a Protein Coding gene. Diseases associated with PCDHB3 include Protocadherin-Beta Gene Cluster. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHB2.
UniProtKB/Swiss-Prot for PCDHB3 Gene
-
Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
Additional gene information for PCDHB3 Gene
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHB3 Gene
Genomics for PCDHB3 Gene
GeneHancer (GH) Regulatory Elements for PCDHB3 Gene
Promoters and enhancers for PCDHB3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around PCDHB3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for PCDHB3 Gene
Genomic Locations for PCDHB3 Gene
- chr5:141,100,242-141,103,827
- (GRCh38/hg38)
- Size:
- 3,586 bases
- Orientation:
- Plus strand
- chr5:140,480,234-140,483,406
- (GRCh37/hg19)
Genomic View for PCDHB3 Gene
Genes around PCDHB3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 5q31.3 by Ensembl
- 5q31.3 by Entrez Gene
- 5q31.3 by HGNC
PCDHB3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for PCDHB3 Gene
Proteins for PCDHB3 Gene
-
Protein details for PCDHB3 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9Y5E6-PCDB3_HUMAN
- Recommended name:
- Protocadherin beta-3
- Protein Accession:
- Q9Y5E6
- B2R8P2
Protein attributes for PCDHB3 Gene
- Size:
- 796 amino acids
- Molecular mass:
- 86773 Da
- Quaternary structure:
- No Data Available
Protein Expression for PCDHB3 Gene
Post-translational modifications for PCDHB3 Gene
- Glycosylation at Asn169, Asn418, Asn436, and isoforms=567
Other Protein References for PCDHB3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
Abcam proteins for PCDHB3
Assay Products
No data available for DME Specific Peptides for PCDHB3 Gene
Domains & Families for PCDHB3 Gene
Gene Families for PCDHB3 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for PCDHB3 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for PCDHB3 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for PCDHB3 Gene
Function for PCDHB3 Gene
Molecular function for PCDHB3 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.
Phenotypes From GWAS Catalog for PCDHB3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005509 | calcium ion binding | IEA | -- |
Phenotypes for PCDHB3 Gene
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-
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- Mammalian expression: PiggyBac
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PCDHB3 Gene
Localization for PCDHB3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for PCDHB3 Gene
- Cell membrane; Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 2 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Vesicles (3)
| 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 | NAS | 11322959 |
Pathways & Interactions for PCDHB3 Gene
No Data Available
Interacting Proteins for PCDHB3 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:0007268 | chemical synaptic transmission | TAS | 12231349 |
| GO:0007399 | nervous system development | TAS | 10380929 |
| GO:0007416 | synapse assembly | TAS | 12231349 |
No data available for Pathways by source and SIGNOR curated interactions for PCDHB3 Gene
Drugs & Compounds for PCDHB3 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| calcium | Approved | Nutra | 0 |
Transcripts for PCDHB3 Gene
mRNA/cDNA for PCDHB3 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (10) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for PCDHB3 Gene
CRISPR Products
-
OriGene CRISPR knockouts for PCDHB3
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA Products
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Inhibitory RNA Products
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Clone Products
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- VectorBuilder custom plasmid, inducible vectors for PCDHB3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for PCDHB3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PCDHB3 gene related products
- orf clones - Search results for available PCDHB3 gene related products
- Applied Biological Materials Clones for PCDHB3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PCDHB3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
This gene is overexpressed in Blymphocyte (26.9), Frontal cortex (14.0), Fetal gut (11.1), and Retina (8.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PCDHB3 Gene
NURSA nuclear receptor signaling pathways regulating expression of PCDHB3 Gene:
PCDHB3SOURCE GeneReport for Unigene cluster for PCDHB3 Gene:
Hs.674730Evidence on tissue expression from TISSUES for PCDHB3 Gene
- Nervous system(4.3)
Primer Products
-
OriGene qPCR primer pairs for PCDHB3
-
OriGene qPCR primer pairs and template standards for PCDHB3
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No data available for mRNA 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 PCDHB3 Gene
Orthologs for PCDHB3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | PCDHB3 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | LOC487168 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Pcdhb3 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Pcdhb3 33 16 34 |
|
||
| cow (Bos Taurus) |
Mammalia | LOC786512 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| -- 34 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | LOC100857544 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | pcdh2g17 33 |
|
- Species where no ortholog for PCDHB3 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)
- 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)
Paralogs for PCDHB3 Gene
Paralogs for PCDHB3 Gene
(72) SIMAP similar genes for PCDHB3 Gene using alignment to 2 proteins:
- ME1
- PCDHB16
- PCDHB8
- PCDHB2
- PCDHB15
- PCDHB14
- PCDHB13
- PCDHB11
- PCDHB6
- PCDHB4
- DKFZp586I1919
- PCDHB18
- ME4
- PCDHB5
- PCDHB7
- PCDHB9
- PCDHB17
- PCDHB12
- PCDHB10
- ME2
- PCDHB1
- ME3
- PCDHGA3
- PCDHGB7
- PCDHGB6
- PCDHGB2
- PCDHGA6
- PCDHGA2
- PCDHGA10
- PCDHGA1
- PCDHGA12
- PCDHGA4
- PCDHGB5
- PCDHGB4
- PCDHGB3
- PCDHGA9
- PCDHGA7
- PCDHGA11
- ME6
- PCDHGC4
- PCDHGA5
- PCDHA12
- PCDHGA8
- PCDHGC5
- PCDHGB1
- PCDHA8
- PCDHA3
- PCDHA1
- PCDHA13
- PCDHA7
- PCDHA6
- PCDHA5
- PCDHA4
- PCDHA10
- PCDH19
- PCDHAC2
- PCDHAC1
- FAT3
- PCDHA9
- PCDHGC3
- PCDHA2
- PCDHA11
- PCDH10
- PCDH18
- PCDH17
- PCDH12
- PCDH9
- PCDH1
- PCDH11Y
- PCDH8
- PCDH11X
- ME5
Variants for PCDHB3 Gene
| SNP ID | Clin | Chr 05 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000186656 | -- | 141,100,012(+) | C/T | upstream_transcript_variant | |
| rs1000522248 | -- | 141,098,256(+) | C/T | upstream_transcript_variant | |
| rs1001310963 | -- | 141,099,442(+) | G/A | upstream_transcript_variant | |
| rs1001356476 | -- | 141,099,050(+) | C/T | upstream_transcript_variant | |
| rs1004662548 | -- | 141,104,015(+) | A/T | downstream_transcript_variant |
Residual Variation Intolerance Score:
79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
7.47;
82.07% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for PCDHB3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- PCDHB3
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHB3 Gene
Disorders for PCDHB3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| protocadherin-beta gene cluster |
|
|
Search PCDHB3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for PCDHB3
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHB3 Gene
Publications for PCDHB3 Gene
- 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
- 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
- Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal KB … Olsen JV (Science signaling 2015) 3 58
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 58
- Protocadherins. (PMID: 12231349) Frank M … Kemler R (Current opinion in cell biology 2002) 3 58
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 26 available PCDHB3 Antibodies ranked by validation data
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Sources for PCDHB3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
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