Aliases for PDZD11 Gene

Aliases for PDZD11 Gene

  • PDZ Domain Containing 11 2 3 5
  • Plasma Membrane Calcium ATPase-Interacting Single-PDZ Protein 3 4
  • PMCA-Interacting Single-PDZ Protein 3 4
  • PDZ Domain-Containing Protein 11 3 4
  • ATPase-Interacting PDZ Protein 3 4
  • PDZK11 3 4
  • AIPP1 3 4
  • PISP 3 4
  • PDZD11 5

External Ids for PDZD11 Gene

Previous HGNC Symbols for PDZD11 Gene

  • PDZK11

Previous GeneCards Identifiers for PDZD11 Gene

  • GC0XM069289
  • GC0XM068822
  • GC0XM069422
  • GC0XM069506
  • GC0XM063327

Summaries for PDZD11 Gene

GeneCards Summary for PDZD11 Gene

PDZD11 (PDZ Domain Containing 11) is a Protein Coding gene. Diseases associated with PDZD11 include Purulent Acute Otitis Media and Middle Ear Disease. Among its related pathways are Metabolism of water-soluble vitamins and cofactors and Innate Immune System. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is LIN7A.

UniProtKB/Swiss-Prot Summary for PDZD11 Gene

  • Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10-binding protein TSPAN33.

Gene Wiki entry for PDZD11 Gene

Additional gene information for PDZD11 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDZD11 Gene

Genomics for PDZD11 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PDZD11 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
GH0XJ070288 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.2 -173 3.4 CREB1 PRDM10 ZNF629 POLR2A GABPA ZIC2 RBFOX2 PATZ1 SMAD5 NR2C1 KIF4A PDZD11 lnc-PDZD11-1 IGBP1 ARR3 RF00017-8495 GDPD2
GH0XJ070398 Enhancer 1 FANTOM5 Ensembl ENCODE 0.1 -108.4 -108387 1.4 GATAD2A RXRB CEBPA SOX13 CEBPB FOXA2 FOXA1 SMAD4 NFIL3 RARA piR-61532-356 GDPD2 ARR3 IGBP1 RF00019-108 RNY4P23 KIF4A PDZD11
GH0XJ070338 Enhancer 0.5 Ensembl 0.3 -48.4 -48387 1.4 CEBPB CEBPG SPI1 MYC MAX MN298114-318 RF00017-8495 PDZD11 KIF4A GDPD2
GH0XJ070302 Enhancer 0.2 Ensembl 0.4 -11.8 -11787 0.6 RAB41 ARR3 RF00017-8495 KIF4A PDZD11 lnc-PDZD11-1 GDPD2
GH0XJ070301 Enhancer 0.2 Ensembl 0.4 -10.9 -10887 0.8 ARR3 RF00017-8495 KIF4A PDZD11 lnc-PDZD11-1 GDPD2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDZD11 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDZD11

Top Transcription factor binding sites by QIAGEN in the PDZD11 gene promoter:
  • AML1a
  • ATF6
  • E47
  • Egr-2
  • FAC1
  • Hand1
  • Pbx1a
  • POU2F1
  • POU2F1a
  • ZIC2

Genomic Locations for PDZD11 Gene

Genomic Locations for PDZD11 Gene
chrX:70,286,595-70,290,514
(GRCh38/hg38)
Size:
3,920 bases
Orientation:
Minus strand
chrX:69,506,211-69,510,364
(GRCh37/hg19)
Size:
4,154 bases
Orientation:
Minus strand

Genomic View for PDZD11 Gene

Genes around PDZD11 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDZD11 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDZD11 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDZD11 Gene

Proteins for PDZD11 Gene

  • Protein details for PDZD11 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5EBL8-PDZ11_HUMAN
    Recommended name:
    PDZ domain-containing protein 11
    Protein Accession:
    Q5EBL8
    Secondary Accessions:
    • D3DVU3
    • Q6UWE1
    • Q9P0Q1

    Protein attributes for PDZD11 Gene

    Size:
    140 amino acids
    Molecular mass:
    16131 Da
    Quaternary structure:
    • Interacts with ATP2B1, ATP2B2, ATP2B3, ATP2B4 and ATP7A (PubMed:12763866, PubMed:16051599). Interacts with PLEKHA7 (via WW domains) at zonula adherens; this interaction is essential for the interaction between PLEKHA7 and the ADAM10-binding protein TSPAN33 (PubMed:30463011).

    Alternative splice isoforms for PDZD11 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDZD11 Gene

Post-translational modifications for PDZD11 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDZD11 Gene

No data available for DME Specific Peptides for PDZD11 Gene

Domains & Families for PDZD11 Gene

Gene Families for PDZD11 Gene

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

Protein Domains for PDZD11 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PDZD11 Gene

GenScript: Design optimal peptide antigens:
  • PDZ domain-containing protein 11 (PDZ11_HUMAN)
genes like me logo Genes that share domains with PDZD11: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PDZD11 Gene

Function for PDZD11 Gene

Molecular function for PDZD11 Gene

UniProtKB/Swiss-Prot Function:
Mediates docking of ADAM10 to zonula adherens by interacting with PLEKHA7 which is required for PLEKHA7 to interact with the ADAM10-binding protein TSPAN33.

Gene Ontology (GO) - Molecular Function for PDZD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16051599
genes like me logo Genes that share ontologies with PDZD11: view
genes like me logo Genes that share phenotypes with PDZD11: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZD11

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDZD11 Gene

Localization for PDZD11 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDZD11 Gene

[Isoform 2]: Secreted.
[Isoform 1]: Cytoplasm. Cell junction, adherens junction. Cell membrane.

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 PDZD11 gene
Compartment Confidence
plasma membrane 5
cytosol 5
extracellular 3
nucleus 2
cytoskeleton 1
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PDZD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction IBA 21873635
genes like me logo Genes that share ontologies with PDZD11: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PDZD11 Gene

Pathways & Interactions for PDZD11 Gene

genes like me logo Genes that share pathways with PDZD11: view

Pathways by source for PDZD11 Gene

SIGNOR curated interactions for PDZD11 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for PDZD11 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006768 biotin metabolic process TAS --
GO:0007269 neurotransmitter secretion IBA 21873635
GO:0015939 pantothenate metabolic process TAS --
GO:0019730 antimicrobial humoral response TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with PDZD11: view

Drugs & Compounds for PDZD11 Gene

No Compound Related Data Available

Transcripts for PDZD11 Gene

mRNA/cDNA for PDZD11 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PDZD11

Alternative Splicing Database (ASD) splice patterns (SP) for PDZD11 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f
SP1: - -
SP2:
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - - -

Relevant External Links for PDZD11 Gene

GeneLoc Exon Structure for
PDZD11

Expression for PDZD11 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDZD11 Gene

Protein differential expression in normal tissues from HIPED for PDZD11 Gene

This gene is overexpressed in Salivary gland (11.4) and Stomach (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PDZD11 Gene



Protein tissue co-expression partners for PDZD11 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDZD11

SOURCE GeneReport for Unigene cluster for PDZD11 Gene:

Hs.11042

mRNA Expression by UniProt/SwissProt for PDZD11 Gene:

Q5EBL8-PDZ11_HUMAN
Tissue specificity: Widely expressed (at protein level).

Evidence on tissue expression from TISSUES for PDZD11 Gene

  • Nervous system(4.8)
  • Muscle(4.3)
  • Blood(4.2)
genes like me logo Genes that share expression patterns with PDZD11: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDZD11 Gene

Orthologs for PDZD11 Gene

This gene was present in the common ancestor of animals.

Orthologs for PDZD11 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PDZD11 30 31
  • 99.52 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PDZD11 30 31
  • 94.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PDZD11 30 31
  • 94.05 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pdzd11 30
  • 93.33 (n)
Mouse
(Mus musculus)
Mammalia Pdzd11 30 17 31
  • 92.62 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PDZD11 31
  • 38 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PDZD11 30 31
  • 81.54 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PDZD11 31
  • 90 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pdzd11 30
  • 77.62 (n)
Str.2023 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.19447 30
Zebrafish
(Danio rerio)
Actinopterygii pdzd11 30 31
  • 73.57 (n)
OneToOne
Dr.15270 30
Fruit Fly
(Drosophila melanogaster)
Insecta veli 31
  • 19 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea lin-7 31
  • 22 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
OneToOne
Species where no ortholog for PDZD11 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)

Evolution for PDZD11 Gene

ENSEMBL:
Gene Tree for PDZD11 (if available)
TreeFam:
Gene Tree for PDZD11 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDZD11: view image

Paralogs for PDZD11 Gene

Paralogs for PDZD11 Gene

(8) SIMAP similar genes for PDZD11 Gene using alignment to 1 proteins:

  • PDZ11_HUMAN

Pseudogenes.org Pseudogenes for PDZD11 Gene

genes like me logo Genes that share paralogs with PDZD11: view

Variants for PDZD11 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDZD11 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
rs1245281228 - p.Ser81Tyr

Additional dbSNP identifiers (rs#s) for PDZD11 Gene

Structural Variations from Database of Genomic Variants (DGV) for PDZD11 Gene

Variant ID Type Subtype PubMed ID
esv1584074 OTHER inversion 17803354

Variation tolerance for PDZD11 Gene

Residual Variation Intolerance Score: 51.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.13; 3.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDZD11 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDZD11

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDZD11 Gene

Disorders for PDZD11 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDZD11 Gene - From: DISEASES

Disorder Aliases PubMed IDs
purulent acute otitis media
  • acute suppurative otitis media
middle ear disease
  • middle ear anomaly
suppurative otitis media
  • otitis media with effusion - purulent
epiphyseal dysplasia, multiple, 3
  • edm3
epiphyseal dysplasia, multiple, 2
  • edm2
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with PDZD11: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDZD11 Gene

Publications for PDZD11 Gene

  1. A single PDZ domain protein interacts with the Menkes copper ATPase, ATP7A. A new protein implicated in copper homeostasis. (PMID: 16051599) Stephenson SE … La Fontaine S (The Journal of biological chemistry 2005) 3 4 23
  2. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 2 3 4
  3. Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PMID: 11042152) Zhang QH … Chen Z (Genome research 2000) 2 3 4
  4. A Dock-and-Lock Mechanism Clusters ADAM10 at Cell-Cell Junctions to Promote α-Toxin Cytotoxicity. (PMID: 30463011) Shah J … Citi S (Cell reports 2018) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4

Products for PDZD11 Gene

  • Signalway Proteins for PDZD11

Sources for PDZD11 Gene