This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to n... See more...

Aliases for DYTN Gene

Aliases for DYTN Gene

  • Dystrotelin 2 3 4 5

External Ids for DYTN Gene

Previous GeneCards Identifiers for DYTN Gene

  • GC02M207260
  • GC02M207516
  • GC02M199365

Summaries for DYTN Gene

Entrez Gene Summary for DYTN Gene

  • This gene belongs to the dystrophin superfamily, which is characterized by the presence of four EF-hand motifs and a ZZ-domain. It is a likely ortholog of the Drosophila 'discontinuous actin hexagon' gene. It is noteworthy that the coding region of this gene lacks two coding exons that are found in the mouse ortholog. Human transcripts including these two exons are subject to nonsense-mediated transcript decay (NMD). On the other hand, transcripts skipping the two coding exons are expressed at very low levels. While this gene maintains an intact CDS, it may be an evolving pseudogene. However, after a discussion about this gene within the RefSeq group, as well as in the consensus coding sequence (CCDS) collaboration, it was decided to keep it as a protein-coding gene in the RefSeq, Ensembl-GENCODE and the CCDS sets. [provided by RefSeq, Jul 2019]

GeneCards Summary for DYTN Gene

DYTN (Dystrotelin) is a Protein Coding gene. Diseases associated with DYTN include Nephrolithiasis, Uric Acid and Von Economo's Disease. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DST.

Additional gene information for DYTN Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DYTN Gene

Genomics for DYTN Gene

GeneHancer (GH) Regulatory Elements for DYTN Gene

Promoters and enhancers for DYTN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DYTN on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the DYTN gene promoter:
  • E47
  • FOXD3
  • FOXJ2
  • FOXJ2 (long isoform)
  • FOXO1
  • Gfi-1
  • HFH-1
  • ITF-2
  • Tal-1
  • Tal-1beta

Genomic Locations for DYTN Gene

Genomic Locations for DYTN Gene
chr2:206,651,621-206,718,396
(GRCh38/hg38)
Size:
66,776 bases
Orientation:
Minus strand
chr2:207,516,345-207,583,120
(GRCh37/hg19)
Size:
66,776 bases
Orientation:
Minus strand

Genomic View for DYTN Gene

Genes around DYTN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for DYTN Gene

Proteins for DYTN Gene

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

    Protein Symbol:
    A2CJ06-DYTN_HUMAN
    Recommended name:
    Dystrotelin
    Protein Accession:
    A2CJ06

    Protein attributes for DYTN Gene

    Size:
    578 amino acids
    Molecular mass:
    65320 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DYTN Gene

Post-translational modifications for DYTN Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DYTN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DYTN Gene

Domains & Families for DYTN Gene

Gene Families for DYTN Gene

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

Protein Domains for DYTN Gene

Suggested Antigen Peptide Sequences for DYTN Gene

GenScript: Design optimal peptide antigens:
  • Dystrotelin (DYTN_HUMAN)
genes like me logo Genes that share domains with DYTN: view

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

Function for DYTN Gene

Phenotypes From GWAS Catalog for DYTN Gene

Gene Ontology (GO) - Molecular Function for DYTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DYTN: view

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for DYTN Gene

Localization for DYTN Gene

Subcellular locations from UniProtKB/Swiss-Prot for DYTN Gene

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 DYTN gene
Compartment Confidence
plasma membrane 3
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DYTN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with DYTN: view

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

Pathways & Interactions for DYTN Gene

PathCards logo

SuperPathways for DYTN Gene

No Data Available

Gene Ontology (GO) - Biological Process for DYTN Gene

None

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

Drugs & Compounds for DYTN Gene

No Compound Related Data Available

Transcripts for DYTN Gene

mRNA/cDNA for DYTN Gene

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

Clone Products

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

No ASD Table

Relevant External Links for DYTN Gene

GeneLoc Exon Structure for
DYTN

Expression for DYTN Gene

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

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

This gene is overexpressed in Whole Blood (x23.3).

Protein differential expression in normal tissues from HIPED for DYTN Gene

This gene is overexpressed in Heart (50.5) and Adipocyte (18.5).

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



Protein tissue co-expression partners for DYTN Gene

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

SOURCE GeneReport for Unigene cluster for DYTN Gene:

Hs.640667
genes like me logo Genes that share expression patterns with DYTN: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DYTN Gene

Orthologs for DYTN Gene

This gene was present in the common ancestor of animals.

Orthologs for DYTN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DYTN 31 30
  • 98.9 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DYTN 31 30
  • 81.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DYTN 31 30
  • 81.03 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dytn 17 31 30
  • 73.66 (n)
rat
(Rattus norvegicus)
Mammalia Dytn 30
  • 72.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DYTN 31
  • 5 (a)
OneToOne
chicken
(Gallus gallus)
Aves DYTN 31 30
  • 58.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DYTN 31
  • 30 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii dytn 31
  • 26 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Dys 31
  • 4 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea dys-1 31
  • 3 (a)
ManyToMany
Species where no ortholog for DYTN 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)
  • 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)
  • oppossum (Monodelphis domestica)
  • 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)

Evolution for DYTN Gene

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

Paralogs for DYTN Gene

Variants for DYTN Gene

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

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs534558800 Not Provided: not provided 206,663,253(-) T/TCC FRAMESHIFT_VARIANT
rs16838593 - p.Tyr241Cys
rs2115591 - p.Gln474Lys

Additional dbSNP identifiers (rs#s) for DYTN Gene

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

Variant ID Type Subtype PubMed ID
dgv1202e212 CNV loss 25503493
nsv1011347 CNV gain 25217958

Variation tolerance for DYTN Gene

Residual Variation Intolerance Score: 95.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.55; 77.88% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DYTN Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DYTN Gene

MalaCards: The human disease database

(3) MalaCards diseases for DYTN Gene - From: DISEASES

Disorder Aliases PubMed IDs
nephrolithiasis, uric acid
  • nephrolithiasis, uric acid, susceptibility to
von economo's disease
  • encephalitis lethargica
mohr-tranebjaerg syndrome
  • dds
- elite association - COSMIC cancer census association via MalaCards
Search DYTN in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DYTN

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

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

Publications for DYTN Gene

  1. The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms. (PMID: 17233888) Jin H … Roberts RG (BMC genomics 2007) 2 3 4 54

Products for DYTN Gene

Sources for DYTN Gene