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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

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

No data available for 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
GH05F141968 1.2 ENCODE 16.2 +796.9 796948 3.0 HDGF PKNOX1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PCDHB5 KIAA0141 HDAC3 PCDHGA5 PCDHB12 RNF14 PCDHB11 PCDHB4 PCDHB19P PCDHB18P
GH05F141039 1.6 FANTOM5 Ensembl ENCODE 10.1 -132.1 -132085 2.6 PKNOX1 ATF1 ARID4B SIN3A ZNF48 YY1 ELK1 CBX5 ZNF143 KLF7 PCDHB16 PCDHA4 PCDHA1 PCDHA2 HARS PCDHA9 PCDHA5 PCDHA8 PCDHA7 PCDHB8
GH05F141940 1.4 Ensembl ENCODE 11.2 +769.7 769651 2.9 PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CBX5 PCDH1 PCDHGB4 PCDHB17P PCDHB11 PCDHB13 PCDH12 PCDHGB3 PCDHB12 PCDHB7 PCDHGB6
GH05F141563 1.3 Ensembl ENCODE 11.2 +391.8 391794 1.4 PKNOX1 ATF1 ARNT SIN3A DMAP1 BRCA1 ZNF2 YY1 CBX5 ZNF143 PCDHGB4 PCDHB11 PCDHB13 PCDHGB3 PCDHB12 PCDHB7 PCDHGB6 PCDHGA7 PCDHB18P PCDHGA8
GH05F141319 1.2 ENCODE 11.2 +148.0 148031 1.9 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 PCDHB15 FCHSD1 MRPL11P2 VTRNA1-1 PCDHGB4 PCDHB11 PCDHB13 HDAC3 PCDHGB3 PCDHB12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PCDHB7 on UCSC Golden Path with GeneCards custom track

Promoters for PCDHB7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001874430 182 799 CTCF ZNF654 YY2 ZNF2 RAD21 SMC3 ZNF143 PRDM1

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 Asn 169, Asn 418, Asn 436, and Asn 567
  • 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

Protein Domains for PCDHB7 Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y5E2

UniProtKB/Swiss-Prot:

PCDB7_HUMAN :
  • Contains 6 cadherin domains.
Domain:
  • Contains 6 cadherin domains.
genes like me logo Genes that share domains with PCDHB7: view

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

Pathways & Interactions for PCDHB7 Gene

SuperPathways for PCDHB7 Gene

No Data Available

Interacting Proteins for PCDHB7 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 7)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000231137%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000346155%0d%0a9606.ENSP00000344456%0d%0a9606.ENSP00000311113%0d%0a
Selected Interacting proteins: ENSP00000231137 Q9Y5E2-PCDB7_HUMAN for PCDHB7 Gene via STRING IID

Gene Ontology (GO) - Biological Process for PCDHB7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA,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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 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
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 and mRNA Expression by UniProt/SwissProt 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 34 35
  • 99.29 (n)
dog
(Canis familiaris)
Mammalia PCDHB7 34
  • 85.41 (n)
cow
(Bos Taurus)
Mammalia PCDHB7 34 35
  • 84.87 (n)
mouse
(Mus musculus)
Mammalia Pcdhb15 34 16 35
  • 80.14 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhb15 34
  • 79.84 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 65 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 65 (a)
ManyToMany
-- 35
  • 64 (a)
ManyToMany
-- 35
  • 63 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 62 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
-- 35
  • 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
rs111582678 -- 141,174,948(+) TGCTC(C/G)TGTTC reference, missense
rs111658515 -- 141,174,093(+) ACATC(A/C/T)CCATC reference, missense
rs111865664 -- 141,174,788(+) CCTCC(G/T)CGCTC reference, synonymous-codon
rs112225937 -- 141,174,082(+) CACTG(A/C)GTACA reference, missense
rs113260051 -- 141,174,251(+) GGCAG(C/T)GTCAG reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
nsv968996 CNV duplication 23825009
nsv950416 CNV duplication 24416366
nsv823266 CNV gain 20364138
nsv819721 CNV gain 19587683
nsv599914 CNV gain 21841781
nsv599910 CNV loss 21841781
nsv599909 CNV gain 21841781
nsv599908 CNV loss 21841781
nsv509092 CNV insertion 20534489
nsv5030 CNV insertion 18451855
nsv499084 CNV gain 21111241
nsv471634 CNV gain+loss 15918152
nsv471436 CNV gain 19718026
nsv428127 CNV loss 18775914
nsv278 CNV insertion 15895083
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
dgv973n67 CNV gain 20364138
dgv958e201 CNV deletion 23290073
dgv1141e214 CNV gain 21293372
dgv10107n54 CNV loss 21841781
dgv10106n54 CNV gain 21841781

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 64
  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 Lett. 2001) 3 4 64
  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 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64

Products for PCDHB7 Gene

Sources for PCDHB7 Gene

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