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Aliases for PCDHB14 Gene

Aliases for PCDHB14 Gene

  • Protocadherin Beta 14 2 3 5
  • Protocadherin Beta-14 3
  • PCDH-Beta-14 4
  • PCDH-BETA14 3

External Ids for PCDHB14 Gene

Previous GeneCards Identifiers for PCDHB14 Gene

  • GC05P140419
  • GC05P141186
  • GC05P140586
  • GC05P140631
  • GC05P140582
  • GC05P140655
  • GC05P140660
  • GC05P135748
  • GC05P140666
  • GC05P140671
  • GC05P140676
  • GC05P140682
  • GC05P140691
  • GC05P141289
  • GC05P141368
  • GC05P141427
  • GC05P141512
  • GC05P141619
  • GC05P141721
  • GC05P141820
  • GC05P141919
  • GC05P142027

Summaries for PCDHB14 Gene

Entrez Gene Summary for PCDHB14 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 PCDHB14 Gene

PCDHB14 (Protocadherin Beta 14) is a Protein Coding gene. Diseases associated with PCDHB14 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 PCDHB14 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 PCDHB14 Gene

Additional gene information for PCDHB14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PCDHB14 Gene

Genomics for PCDHB14 Gene

GeneHancer (GH) Regulatory Elements for PCDHB14 Gene

Promoters and enhancers for PCDHB14 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
GH05I141224 Promoter 0.9 EPDnew 550.8 +1.0 998 0.1 ZNF335 CTCF ZNF654 POLR2A GLIS1 SMC3 RAD21 ZBTB17 ENSG00000279983 PCDHB14 ENSG00000280029 PCDHB@
GH05I141223 Promoter 0.9 Ensembl 550.8 +1.3 1275 0.4 ZNF335 CTCF ZNF654 POLR2A GLIS1 SMC3 RAD21 ZBTB17 ENSG00000279983 PCDHB14 PCDHB18P ENSG00000280029 PCDHB@
GH05I140717 Promoter/Enhancer 1.6 Ensembl ENCODE 30.5 -503.2 -503190 2.7 MLX IRF4 ZNF213 E2F8 ZNF416 ZNF143 SP3 PPARGC1A MEF2D GLIS1 GC05P142207 VTRNA1-2 PURA PCDHB18P PCDHB19P PCDHB15 PCDHB12 PCDHB3 PCDHB9 PCDHB13
GH05I141319 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 21.3 +98.3 98324 1.9 PKNOX1 SMAD1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 POLR2B ZNF213 TAF7 PCDHB15 ANKHD1 ENSG00000272108 WDR55 PCDHB9 LOC102723915 FCHSD1 PCDHB18P PCDHB6
GH05I141968 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 17.1 +747.2 747241 3 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B RNF14 PCDH12 PCDHB18P PCDHGA6 PCDHGA7 LOC102723915 HDAC3 KIAA0141 PCDHGA5 PCDHB12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PCDHB14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PCDHB14 gene promoter:

Genomic Locations for PCDHB14 Gene

Genomic Locations for PCDHB14 Gene
chr5:141,222,326-141,227,759
(GRCh38/hg38)
Size:
5,434 bases
Orientation:
Plus strand
chr5:140,602,931-140,605,860
(GRCh37/hg19)

Genomic View for PCDHB14 Gene

Genes around PCDHB14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDHB14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDHB14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDHB14 Gene

Proteins for PCDHB14 Gene

  • Protein details for PCDHB14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5E9-PCDBE_HUMAN
    Recommended name:
    Protocadherin beta-14
    Protein Accession:
    Q9Y5E9
    Secondary Accessions:
    • B4DPE2
    • Q4FZA4
    • Q4KN11

    Protein attributes for PCDHB14 Gene

    Size:
    798 amino acids
    Molecular mass:
    87548 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PCDHB14 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PCDHB14 Gene

Post-translational modifications for PCDHB14 Gene

  • Glycosylation at Asn169, isoforms=2359, Asn418, Asn436, Asn487, and isoforms=2567
  • Modification sites at PhosphoSitePlus

Other Protein References for PCDHB14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PCDHB14 Gene

Domains & Families for PCDHB14 Gene

Gene Families for PCDHB14 Gene

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

Protein Domains for PCDHB14 Gene

Suggested Antigen Peptide Sequences for PCDHB14 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PCDHB14: view

No data available for UniProtKB/Swiss-Prot for PCDHB14 Gene

Function for PCDHB14 Gene

Molecular function for PCDHB14 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 PCDHB14 Gene

Gene Ontology (GO) - Molecular Function for PCDHB14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PCDHB14: view
genes like me logo Genes that share phenotypes with PCDHB14: view

miRNA for PCDHB14 Gene

miRTarBase miRNAs that target PCDHB14

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDHB14 Gene

Localization for PCDHB14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDHB14 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 PCDHB14 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PCDHB14 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 NAS 11322959
genes like me logo Genes that share ontologies with PCDHB14: view

Pathways & Interactions for PCDHB14 Gene

SuperPathways for PCDHB14 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDHB14 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 TAS 12231349
GO:0007416 synapse assembly TAS 12231349
GO:0016339 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules NAS 11322959
genes like me logo Genes that share ontologies with PCDHB14: view

No data available for Pathways by source and SIGNOR curated interactions for PCDHB14 Gene

Drugs & Compounds for PCDHB14 Gene

(1) Drugs for PCDHB14 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 PCDHB14: view

Transcripts for PCDHB14 Gene

mRNA/cDNA for PCDHB14 Gene

Unigene Clusters for PCDHB14 Gene

Protocadherin beta 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDHB14 Gene

No ASD Table

Relevant External Links for PCDHB14 Gene

GeneLoc Exon Structure for
PCDHB14
ECgene alternative splicing isoforms for
PCDHB14

Expression for PCDHB14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PCDHB14 Gene

NURSA nuclear receptor signaling pathways regulating expression of PCDHB14 Gene:

PCDHB14

SOURCE GeneReport for Unigene cluster for PCDHB14 Gene:

Hs.658497

Evidence on tissue expression from TISSUES for PCDHB14 Gene

  • Kidney(4.3)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with PCDHB14: 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 , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDHB14 Gene

Orthologs for PCDHB14 Gene

This gene was present in the common ancestor of mammals.

Orthologs for PCDHB14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PCDHB14 33 34
  • 98.75 (n)
dog
(Canis familiaris)
Mammalia PCDHB14 33
  • 87.22 (n)
cow
(Bos Taurus)
Mammalia PCDHB14 33 34
  • 86.88 (n)
rat
(Rattus norvegicus)
Mammalia Pcdhb20 33
  • 81.66 (n)
mouse
(Mus musculus)
Mammalia Pcdhb20 33 16 34
  • 81.29 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 66 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 65 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
-- 34
  • 61 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 65 (a)
ManyToMany
-- 34
  • 63 (a)
ManyToMany
-- 34
  • 62 (a)
ManyToMany
Species where no ortholog for PCDHB14 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 PCDHB14 Gene

ENSEMBL:
Gene Tree for PCDHB14 (if available)
TreeFam:
Gene Tree for PCDHB14 (if available)

Paralogs for PCDHB14 Gene

Pseudogenes.org Pseudogenes for PCDHB14 Gene

genes like me logo Genes that share paralogs with PCDHB14: view

Variants for PCDHB14 Gene

Sequence variations from dbSNP and Humsavar for PCDHB14 Gene

SNP ID Clin Chr 05 pos Variation AA Info Type
rs1000417806 -- 141,223,212(+) T/C 5_prime_UTR_variant
rs1000741386 -- 141,222,119(+) A/G upstream_transcript_variant
rs1001523259 -- 141,223,132(+) T/C 5_prime_UTR_variant
rs1001858765 -- 141,221,702(+) C/T upstream_transcript_variant
rs1001868595 -- 141,221,513(+) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PCDHB14 Gene

Variant ID Type Subtype PubMed ID
esv2759382 CNV gain 17122850
nsv1024594 CNV loss 25217958
nsv428127 CNV loss 18775914
nsv471634 CNV gain+loss 15918152
nsv599908 CNV loss 21841781
nsv823266 CNV gain 20364138
nsv968257 CNV duplication 23825009

Variation tolerance for PCDHB14 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.17; 69.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDHB14 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PCDHB14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDHB14 Gene

Disorders for PCDHB14 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PCDHB14 Gene - From: GeneCards

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

Additional Disease Information for PCDHB14

genes like me logo Genes that share disorders with PCDHB14: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PCDHB14 Gene

Publications for PCDHB14 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. 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) 3 4 58
  3. 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
  4. PCDHB14- and GABRB1-like nervous system developmental genes are altered during early neuronal differentiation of NCCIT cells treated with ethanol. (PMID: 25566775) Halder D … Chai YG (Human & experimental toxicology 2015) 3 58
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3 58

Products for PCDHB14 Gene

Sources for PCDHB14 Gene

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