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Aliases for PCDHB7 Gene

Aliases for PCDHB7 Gene

  • Protocadherin Beta 7 2 3 5
  • Protocadherin Beta-7 3
  • PCDH-Beta-7 4
  • PCDH-BETA7 3

External Ids for PCDHB7 Gene

Previous GeneCards Identifiers for PCDHB7 Gene

  • GC05P140368
  • GC05P141135
  • GC05P140535
  • GC05P140580
  • GC05P140532
  • GC05P135697
  • GC05P140553
  • GC05P141360
  • GC05P141351
  • GC05P141501
  • GC05P141608
  • GC05P141711
  • GC05P141810
  • GC05P141909

Summaries for PCDHB7 Gene

Entrez Gene Summary for PCDHB7 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. The transcript for this particular family member uses more than one polyadenylation site. [provided by RefSeq, Jul 2008]

GeneCards Summary for PCDHB7 Gene

PCDHB7 (Protocadherin Beta 7) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDHB2.

UniProtKB/Swiss-Prot for PCDHB7 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 PCDHB7 Gene

Additional gene information for PCDHB7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHB7 Gene

Genomics for PCDHB7 Gene

Regulatory Elements for PCDHB7 Gene

Enhancers for PCDHB7 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
GH05H140717 1.2 ENCODE 21.8 -453.5 -453483 2 MLX ZNF416 ZNF143 SP3 PPARGC1A MEF2D GLIS1 RCOR2 NBN KDM1A ANKHD1 HARS2 PURA HDAC3 WDR55 PCDHB18P PCDHB19P TMCO6 PCDHB12 HARS
GH05H141563 1.6 Ensembl ENCODE dbSUPER 13.2 +391.8 391794 1 FOXA2 PKNOX1 ARNT DMAP1 ZNF2 YY1 ZNF143 ZNF207 FOS SP3 HARS2 IK PCDHB8 PCDHB3 PCDHA6 PCDHB9 PCDHB7 ENSG00000272108 PCDHB15 PCDHGC3
GH05H140190 1.7 FANTOM5 Ensembl ENCODE dbSUPER 12 -981.8 -981797 1 HDAC1 PKNOX1 ATF1 CHAMP1 TCF12 ZNF302 GATA2 ZNF366 ZSCAN5C SIRT6 PFDN1 ENSG00000272108 PCDHB5 PCDHB4 PCDHB9 PCDHB6 PCDHB3 PCDHB17P PCDHB8 PCDHB7
GH05H141968 1.1 ENCODE 16.6 +796.9 796948 2 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LOC102723915 HDAC3 KIAA0141 PCDHGA5 PCDHB12 RNF14 PCDHB11 PCDHB18P PCDHB4 PCDHB15
GH05H141039 1.6 FANTOM5 Ensembl ENCODE 10.1 -132.1 -132085 2 PKNOX1 ATF1 ARID4B SIN3A YY1 CBX5 ELK1 ZNF143 KLF7 ATF7 ANKHD1 PCDHB16 HDAC3 WDR55 LOC102723915 TMCO6 HARS2 PCDHA4 PCDHA9 KIAA0141
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHB7 on UCSC Golden Path with GeneCards custom track

Genomic Location for PCDHB7 Gene

Chromosome:
5
Start:
141,172,619 bp from pter
End:
141,176,383 bp from pter
Size:
3,765 bases
Orientation:
Plus strand

Genomic View for PCDHB7 Gene

Genes around PCDHB7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHB7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHB7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHB7 Gene

Proteins for PCDHB7 Gene

  • Protein details for PCDHB7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5E2-PCDB7_HUMAN
    Recommended name:
    Protocadherin beta-7
    Protein Accession:
    Q9Y5E2
    Secondary Accessions:
    • A1L3Y8

    Protein attributes for PCDHB7 Gene

    Size:
    793 amino acids
    Molecular mass:
    86707 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PCDHB7 Gene

Post-translational modifications for PCDHB7 Gene

  • Glycosylation at Asn169, Asn418, posLast=436436, and Asn567
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHB7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHB7 Gene

Domains & Families for PCDHB7 Gene

Gene Families for PCDHB7 Gene

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

Protein Domains for PCDHB7 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHB7: view

No data available for UniProtKB/Swiss-Prot for PCDHB7 Gene

Function for PCDHB7 Gene

Molecular function for PCDHB7 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 PCDHB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with PCDHB7: view
genes like me logo Genes that share phenotypes with PCDHB7: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PCDHB7

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCDHB7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for PCDHB7 Gene

Localization for PCDHB7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHB7 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 PCDHB7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
mitochondrion 1
peroxisome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PCDHB7 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 PCDHB7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDHB7 Gene

Pathways & Interactions for PCDHB7 Gene

SuperPathways for PCDHB7 Gene

No Data Available

Interacting Proteins for PCDHB7 Gene

Gene Ontology (GO) - Biological Process for PCDHB7 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 PCDHB7: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHB7 Gene

Drugs & Compounds for PCDHB7 Gene

(1) Drugs for PCDHB7 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 PCDHB7: view

Transcripts for PCDHB7 Gene

mRNA/cDNA for PCDHB7 Gene

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

Unigene Clusters for PCDHB7 Gene

Protocadherin beta 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PCDHB7
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHB7 Gene

No ASD Table

Relevant External Links for PCDHB7 Gene

GeneLoc Exon Structure for
PCDHB7
ECgene alternative splicing isoforms for
PCDHB7

Expression for PCDHB7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHB7 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCDHB7 Gene:

PCDHB7

SOURCE GeneReport for Unigene cluster for PCDHB7 Gene:

Hs.203830

Evidence on tissue expression from TISSUES for PCDHB7 Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with PCDHB7: view

Primer Products

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 , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHB7 Gene

Orthologs for PCDHB7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PCDHB7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHB7 33 34
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia PCDHB7 33
  • 85.41 (n)
cow
(Bos Taurus)
Mammalia PCDHB7 33 34
  • 84.87 (n)
mouse
(Mus musculus)
Mammalia Pcdhb15 33 16 34
  • 80.14 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhb15 33
  • 79.84 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 64 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 62 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
-- 34
  • 60 (a)
ManyToMany
Species where no ortholog for PCDHB7 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)
  • 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 PCDHB7 Gene

ENSEMBL:
Gene Tree for PCDHB7 (if available)
TreeFam:
Gene Tree for PCDHB7 (if available)

Paralogs for PCDHB7 Gene

genes like me logo Genes that share paralogs with PCDHB7: view

Variants for PCDHB7 Gene

Sequence variations from dbSNP and Humsavar for PCDHB7 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs1006624347 -- 141,172,534(+) TCTTT(C/T)TGTTC upstream-variant-2KB
rs1008309419 -- 141,171,252(+) TAGAG(C/G/T)TCTTG upstream-variant-2KB
rs1008754844 -- 141,170,810(+) AATGG(A/C)AATGA upstream-variant-2KB
rs1012937238 -- 141,173,222(+) GATCA(C/G)GCTCC reference, missense
rs1014534850 -- 141,172,103(+) TCACA(C/G)GTAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PCDHB7 Gene

Variant ID Type Subtype PubMed ID
dgv10106n54 CNV gain 21841781
dgv10107n54 CNV loss 21841781
dgv1141e214 CNV gain 21293372
dgv958e201 CNV deletion 23290073
dgv973n67 CNV gain 20364138
esv2730842 CNV deletion 23290073
esv2759382 CNV gain 17122850
esv28212 CNV gain 19812545
esv3333092 CNV duplication 20981092
esv33618 CNV gain+loss 17666407
esv3606964 CNV loss 21293372
nsv1024594 CNV loss 25217958
nsv1031792 CNV loss 25217958
nsv10756 CNV gain 18304495
nsv1141502 CNV duplication 24896259
nsv278 CNV insertion 15895083
nsv428127 CNV loss 18775914
nsv471436 CNV gain 19718026
nsv471634 CNV gain+loss 15918152
nsv499084 CNV gain 21111241
nsv5030 CNV insertion 18451855
nsv509092 CNV insertion 20534489
nsv599908 CNV loss 21841781
nsv599909 CNV gain 21841781
nsv599910 CNV loss 21841781
nsv599914 CNV gain 21841781
nsv819721 CNV gain 19587683
nsv823266 CNV gain 20364138
nsv950416 CNV duplication 24416366
nsv968996 CNV duplication 23825009

Variation tolerance for PCDHB7 Gene

Residual Variation Intolerance Score: 92.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.45; 95.48% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PCDHB7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHB7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHB7 Gene

Disorders for PCDHB7 Gene

Relevant External Links for PCDHB7

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PCDHB7

No disorders were found for PCDHB7 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PCDHB7 Gene

Publications for PCDHB7 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 60
  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 60
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60
  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 60
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 4 60

Products for PCDHB7 Gene

Sources for PCDHB7 Gene

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