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Aliases for PCDHGB2 Gene

Aliases for PCDHGB2 Gene

  • Protocadherin Gamma Subfamily B, 2 2 3 5
  • PCDH-GAMMA-B2 3 4
  • Protocadherin Gamma-B2 3

External Ids for PCDHGB2 Gene

Previous GeneCards Identifiers for PCDHGB2 Gene

  • GC05P140556
  • GC05P141305
  • GC05P140710
  • GC05P140769
  • GC05P140790
  • GC05P140728
  • GC05P140814
  • GC05P140822
  • GC05P140837
  • GC05P140864
  • GC05P140890
  • GC05P140912
  • GC05P140924
  • GC05P140946
  • GC05P140967
  • GC05P140989
  • GC05P141019
  • GC05P141038
  • GC05P141082
  • GC05P135884
  • GC05P141104
  • GC05P141142
  • GC05P141181
  • GC05P141212
  • GC05P141251
  • GC05P141291
  • GC05P141378
  • GC05P141447
  • GC05P141522
  • GC05P141628
  • GC05P141730
  • GC05P141829
  • GC05P141932
  • GC05P142036

Summaries for PCDHGB2 Gene

Entrez Gene Summary for PCDHGB2 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 PCDHGB2 Gene

PCDHGB2 (Protocadherin Gamma Subfamily B, 2) is a Protein Coding gene. Diseases associated with PCDHGB2 include Protocadherin-Gamma Gene Cluster. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHGB1.

UniProtKB/Swiss-Prot for PCDHGB2 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 PCDHGB2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHGB2 Gene

Genomics for PCDHGB2 Gene

GeneHancer (GH) Regulatory Elements for PCDHGB2 Gene

Promoters and enhancers for PCDHGB2 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
GH05I141359 Promoter/Enhancer 1 EPDnew ENCODE 550.8 0.0 -32 0.1 CTCF ZNF654 FOXA2 GABPB1 RAD21 KAT8 PCDHGB2 PCDHGA4 PCDHGB1 PCDHGA3 PCDHGA2 PCDHG@ PCDHGA1
GH05I141360 Promoter 0.7 EPDnew 550.8 +0.1 114 0.1 CTCF KAT8 PCDHGB2 PCDHGA5 PCDHGA4 PCDHGB1 PCDHGA3 PCDHGA2 PCDHG@ PCDHGA1
GH05I141968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.6 +609.5 609525 3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RNF14 PCDH12 PCDHB18P PCDHGA6 PCDHGA7 LOC102723915 HDAC3 KIAA0141 PCDHGA5 PCDHB12
GH05I141319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.9 -39.4 -39392 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 TAF7 PCDHB15 ANKHD1 ENSG00000272108 WDR55 PCDHB9 LOC102723915 FCHSD1 PCDHB18P PCDHB6
GH05I140637 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.7 -721.0 -721036 2.8 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 TMCO6 HARS2 ANKHD1 WDR55 HDAC3 LOC102723915 SRA1 PURA MALINC1 CD14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDHGB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDHGB2 gene promoter:

Genomic Locations for PCDHGB2 Gene

Genomic Locations for PCDHGB2 Gene
chr5:141,360,042-141,512,979
(GRCh38/hg38)
Size:
152,938 bases
Orientation:
Plus strand
chr5:140,739,703-140,892,546
(GRCh37/hg19)

Genomic View for PCDHGB2 Gene

Genes around PCDHGB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHGB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHGB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHGB2 Gene

Proteins for PCDHGB2 Gene

  • Protein details for PCDHGB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5G2-PCDGE_HUMAN
    Recommended name:
    Protocadherin gamma-B2
    Protein Accession:
    Q9Y5G2
    Secondary Accessions:
    • Q3MIJ3
    • Q9UN65

    Protein attributes for PCDHGB2 Gene

    Size:
    931 amino acids
    Molecular mass:
    100875 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHGB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHGB2 Gene

Post-translational modifications for PCDHGB2 Gene

  • Glycosylation at isoforms=2419 and Asn545

Other Protein References for PCDHGB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHGB2 Gene

Domains & Families for PCDHGB2 Gene

Gene Families for PCDHGB2 Gene

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

Protein Domains for PCDHGB2 Gene

Suggested Antigen Peptide Sequences for PCDHGB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHGB2: view

No data available for UniProtKB/Swiss-Prot for PCDHGB2 Gene

Function for PCDHGB2 Gene

Molecular function for PCDHGB2 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 PCDHGB2 Gene

Gene Ontology (GO) - Molecular Function for PCDHGB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHGB2: view
genes like me logo Genes that share phenotypes with PCDHGB2: view

miRNA for PCDHGB2 Gene

miRTarBase miRNAs that target PCDHGB2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHGB2 Gene

Localization for PCDHGB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHGB2 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 PCDHGB2 gene
Compartment Confidence
plasma membrane 3

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleus (2)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PCDHGB2 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 PCDHGB2: view

Pathways & Interactions for PCDHGB2 Gene

SuperPathways for PCDHGB2 Gene

No Data Available

Interacting Proteins for PCDHGB2 Gene

Gene Ontology (GO) - Biological Process for PCDHGB2 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 --
genes like me logo Genes that share ontologies with PCDHGB2: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHGB2 Gene

Drugs & Compounds for PCDHGB2 Gene

(1) Drugs for PCDHGB2 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 PCDHGB2: view

Transcripts for PCDHGB2 Gene

mRNA/cDNA for PCDHGB2 Gene

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHGB2 Gene

No ASD Table

Relevant External Links for PCDHGB2 Gene

GeneLoc Exon Structure for
PCDHGB2
ECgene alternative splicing isoforms for
PCDHGB2

Expression for PCDHGB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHGB2 Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PCDHGB2 Gene



Protein tissue co-expression partners for PCDHGB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PCDHGB2 Gene:

PCDHGB2

Evidence on tissue expression from TISSUES for PCDHGB2 Gene

  • Nervous system(4)
genes like me logo Genes that share expression patterns with PCDHGB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHGB2 Gene

Orthologs for PCDHGB2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PCDHGB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHGB2 33
  • 99.18 (n)
dog
(Canis familiaris)
Mammalia PCDHGB2 33
  • 85.2 (n)
cow
(Bos Taurus)
Mammalia PCDHGB2 34
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pcdhgb2 33 16
  • 82.73 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 63 (a)
ManyToMany
-- 34
  • 61 (a)
ManyToMany
-- 34
  • 57 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 59 (a)
ManyToMany
-- 34
  • 59 (a)
ManyToMany
-- 34
  • 58 (a)
ManyToMany
-- 34
  • 57 (a)
ManyToMany
-- 34
  • 56 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 51 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 50 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 49 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
Species where no ortholog for PCDHGB2 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)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • 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 PCDHGB2 Gene

ENSEMBL:
Gene Tree for PCDHGB2 (if available)
TreeFam:
Gene Tree for PCDHGB2 (if available)

Paralogs for PCDHGB2 Gene

Pseudogenes.org Pseudogenes for PCDHGB2 Gene

genes like me logo Genes that share paralogs with PCDHGB2: view

Variants for PCDHGB2 Gene

Sequence variations from dbSNP and Humsavar for PCDHGB2 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs386352347 uncertain-significance, not provided 141,485,635(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000014772 -- 141,409,727(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000022316 -- 141,472,751(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000136303 -- 141,452,887(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000138324 -- 141,499,091(+) A/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDHGB2 Gene

Variant ID Type Subtype PubMed ID
nsv980740 CNV duplication 23825009
nsv968259 CNV duplication 23825009
nsv823280 CNV loss 20364138
nsv823279 CNV gain 20364138
nsv599923 CNV loss 21841781
nsv599922 CNV loss 21841781
nsv519627 CNV loss 19592680
nsv518799 CNV loss 19592680
nsv462470 CNV loss 19166990
nsv327707 CNV deletion 16902084
nsv1125852 CNV tandem duplication 24896259
nsv1123990 CNV deletion 24896259
esv3606987 CNV gain 21293372
esv3606985 CNV gain 21293372
esv3606984 CNV loss 21293372
esv3606983 CNV gain 21293372
esv3606982 CNV loss 21293372
esv3422812 CNV insertion 20981092
esv2759382 CNV gain 17122850
esv2730847 CNV deletion 23290073
esv25744 CNV gain 19812545

Variation tolerance for PCDHGB2 Gene

Residual Variation Intolerance Score: 38.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.97; 84.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHGB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHGB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHGB2 Gene

Disorders for PCDHGB2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHGB2 Gene - From: GeneCards

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

Additional Disease Information for PCDHGB2

genes like me logo Genes that share disorders with PCDHGB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHGB2 Gene

Publications for PCDHGB2 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. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  3. Bcl2-associated athanogene 3 interactome analysis reveals a new role in modulating proteasome activity. (PMID: 23824909) Chen Y … Ge F (Molecular & cellular proteomics : MCP 2013) 3 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 4 58
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 58

Products for PCDHGB2 Gene

Sources for PCDHGB2 Gene

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