Aliases for DDN Gene

Aliases for DDN Gene

  • Dendrin 2 3 4 5
  • KIAA0749 4

External Ids for DDN Gene

Previous GeneCards Identifiers for DDN Gene

  • GC12M049105
  • GC12M047675
  • GC12M049388
  • GC12M046420

Summaries for DDN Gene

GeneCards Summary for DDN Gene

DDN (Dendrin) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include RNA polymerase II proximal promoter sequence-specific DNA binding and transcription factor activity, RNA polymerase II proximal promoter sequence-specific DNA binding.

UniProtKB/Swiss-Prot Summary for DDN Gene

  • Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity).

Additional gene information for DDN Gene

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

Genomics for DDN Gene

GeneHancer (GH) Regulatory Elements for DDN Gene

Promoters and enhancers for DDN 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
GH12J048996 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 530.2 +2.2 2190 4.2 RXRA CTCF TCF12 SIN3A NRF1 USF1 POLR2G ZIC2 ZBTB10 ZBTB26 DDN DDN-AS1 KMT2D ARF3
GH12J049001 Promoter 0.6 EPDnew 500.7 +0.0 11 0.1 POLR2A RBM22 ZBTB48 SMARCA4 DDN ARF3 DDN-AS1
GH12J049017 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.8 -17.9 -17930 4 HNRNPK ZBTB40 ZNF217 EP300 CTCF ZSCAN5C TCF12 SIN3A NRF1 POLR2G PRKAG1 lnc-KMT2D-1 DDN DDX23 CCNT1 LOC390314 KMT2D KANSL2 LMBR1L SENP1
GH12J049055 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 20 -57.4 -57412 6.7 RXRA HNRNPK FOXK2 ZBTB40 ZNF217 EP300 ZSCAN5C SIN3A TCF12 MYC LMBR1L DDX23 LOC390314 KANSL2 KMT2D SENP1 CCNT1 LOC100422296 OR5BK1P PRPF40B
GH12J049068 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 20.5 -68.7 -68710 2 FOXK2 ZBTB40 EP300 CTCF SIN3A NRF1 USF1 SP1 NCOR1 PHF8 RHEBL1 DDN LMBR1L SENP1 DDX23 BCDIN3D piR-61945-097
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DDN on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the DDN gene promoter:
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • C/EBPbeta
  • CUTL1
  • Egr-2
  • HOXA3
  • SREBP-1a
  • SREBP-1b

Genomic Locations for DDN Gene

Genomic Locations for DDN Gene
chr12:48,995,149-49,001,091
(GRCh38/hg38)
Size:
5,943 bases
Orientation:
Minus strand
chr12:49,388,932-49,393,092
(GRCh37/hg19)
Size:
4,161 bases
Orientation:
Minus strand

Genomic View for DDN Gene

Genes around DDN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DDN Gene

Proteins for DDN Gene

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

    Protein Symbol:
    O94850-DEND_HUMAN
    Recommended name:
    Dendrin
    Protein Accession:
    O94850

    Protein attributes for DDN Gene

    Size:
    711 amino acids
    Molecular mass:
    75996 Da
    Quaternary structure:
    • Forms a ternary complex with MAGI2 and SH3KBP1; recruits DDN to the cytoplasm. Interacts with MAGI1. Interacts with ACTN1 and may interact with WWC1. Interacts with the podocyte slit diaphragm proteins CD2AP, NPHS1 and NPHS2; the interaction with CD2AP and NPHS1 is direct (By similarity).
    SequenceCaution:
    • Sequence=BAA34469.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for DDN Gene

Post-translational modifications for DDN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DDN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DDN Gene

Domains & Families for DDN Gene

Gene Families for DDN Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for DDN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DDN Gene

GenScript: Design optimal peptide antigens:
  • Dendrin (B9EGD7_HUMAN)
  • Dendrin (DEND_HUMAN)
genes like me logo Genes that share domains with DDN: view

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

Function for DDN Gene

Molecular function for DDN Gene

UniProtKB/Swiss-Prot Function:
Promotes apoptosis of kidney glomerular podocytes. Podocytes are highly specialized cells essential to the ultrafiltration of blood, resulting in the extraction of urine and the retention of protein (By similarity).

Phenotypes From GWAS Catalog for DDN Gene

Gene Ontology (GO) - Molecular Function for DDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0005515 protein binding IPI 16464232
genes like me logo Genes that share ontologies with DDN: view
genes like me logo Genes that share phenotypes with DDN: view

Animal Models for DDN Gene

MGI Knock Outs for DDN:
  • Ddn Ddn<tm1Ktry>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

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

Localization for DDN Gene

Subcellular locations from UniProtKB/Swiss-Prot for DDN Gene

Cell projection, dendritic spine membrane; Peripheral membrane protein. Cytoplasm. Endoplasmic reticulum membrane; Peripheral membrane protein; Cytoplasmic side. Perikaryon. Nucleus. Note=Enriched at the cytoplasmic insertion of the slit diaphragm into the foot process of podocytes and associated with polyribosomes in dendrites. {ECO:0000250}.

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 DDN gene
Compartment Confidence
nucleus 4
plasma membrane 3
endoplasmic reticulum 3
cytoskeleton 2
cytosol 2
extracellular 1
mitochondrion 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IDA,IBA 16464232
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with DDN: view

Pathways & Interactions for DDN Gene

PathCards logo

SuperPathways for DDN Gene

No Data Available

Gene Ontology (GO) - Biological Process for DDN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045944 positive regulation of transcription by RNA polymerase II IBA 21873635
genes like me logo Genes that share ontologies with DDN: view

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

Drugs & Compounds for DDN Gene

(2) Drugs for DDN Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Delamanid Approved, Investigational Pharma Enzyme, substrate 0
Pretomanid Approved Pharma Enzyme, substrate 0
genes like me logo Genes that share compounds with DDN: view

Transcripts for DDN Gene

mRNA/cDNA for DDN Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
1 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 DDN

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

No ASD Table

Relevant External Links for DDN Gene

GeneLoc Exon Structure for
DDN

Expression for DDN Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DDN Gene

This gene is overexpressed in Muscle - Skeletal (x8.6), Brain - Amygdala (x6.0), Brain - Nucleus accumbens (basal ganglia) (x5.8), Brain - Anterior cingulate cortex (BA24) (x5.8), Brain - Cortex (x5.6), Brain - Putamen (basal ganglia) (x4.9), Brain - Hippocampus (x4.8), Brain - Frontal Cortex (BA9) (x4.6), and Brain - Caudate (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for DDN Gene

This gene is overexpressed in Salivary gland (45.7) and Heart (23.3).

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



Protein tissue co-expression partners for DDN Gene

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

SOURCE GeneReport for Unigene cluster for DDN Gene:

Hs.591044

mRNA Expression by UniProt/SwissProt for DDN Gene:

O94850-DEND_HUMAN
Tissue specificity: Specifically expressed in brain and kidney. Expressed in kidney glomerular capillary loops (at protein level).

Evidence on tissue expression from TISSUES for DDN Gene

  • Nervous system(4.6)
  • Muscle(2.5)
genes like me logo Genes that share expression patterns with DDN: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DDN Gene

Orthologs for DDN Gene

This gene was present in the common ancestor of chordates.

Orthologs for DDN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DDN 31 30
  • 99.44 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DDN 31 30
  • 85.47 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DDN 31 30
  • 84.81 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ddn 17 31 30
  • 81.03 (n)
rat
(Rattus norvegicus)
Mammalia Ddn 30
  • 80.24 (n)
lizard
(Anolis carolinensis)
Reptilia DDN 31
  • 33 (a)
OneToOne
Species where no ortholog for DDN 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)
  • oppossum (Monodelphis domestica)
  • 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 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 DDN Gene

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

Paralogs for DDN Gene

No data available for Paralogs for DDN Gene

Variants for DDN Gene

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

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10783299 - p.Glu661Gly

Additional dbSNP identifiers (rs#s) for DDN Gene

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

Variant ID Type Subtype PubMed ID
nsv558833 CNV loss 21841781
nsv820277 CNV gain 19587683
nsv832404 CNV gain 17160897

Variation tolerance for DDN Gene

Residual Variation Intolerance Score: 19.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.34; 85.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DDN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DDN Gene

Additional Disease Information for DDN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for DDN Gene.

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

Publications for DDN Gene

  1. Dendrin expression in glomerulogenesis and in human minimal change nephrotic syndrome. (PMID: 18356187) Dunér F … Wernerson A (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2008) 3 4 23 54
  2. Postsynaptic recruitment of Dendrin depends on both dendritic mRNA transport and synaptic anchoring. (PMID: 16464232) Kremerskothen J … Barnekow A (Journal of neurochemistry 2006) 3 4 23 54
  3. Characterization of KIBRA, a novel WW domain-containing protein. (PMID: 12559952) Kremerskothen J … Barnekow A (Biochemical and biophysical research communications 2003) 3 4 23 54
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  5. CIN85 is localized at synapses and forms a complex with S-SCAM via dendrin. (PMID: 16751601) Kawata A … Hata Y (Journal of biochemistry 2006) 3 4 54

Products for DDN Gene

Sources for DDN Gene