DYTN - dystrotelin Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 391475

About DYTN

Cytogenetic location: 2q33.3 Genomic coordinates (GRCh38): 2:206,651,621-206,718,396 (from NCBI)

This gene has 3 transcripts (splice variants), 124 orthologues and 36 paralogues. Low expression observed in reference dataset.

Summary

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]

DYTN Products (1)

mRNA Protein Name
NM_001093730.1 NP_001087199.1 dystrotelin

DYTN Protein Structure

EF-hand_2

EF-hand_2: EF hand (8 - 118)

EF-hand_3

EF-hand_3: EF-hand (124 - 216)

ZZ

ZZ: Zinc finger, ZZ type (224 - 266)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 578 a.a.
Protein Preferred Names Protein Names

dystrotelin

Related Diseases

Diseases Alias
Hemidystonia
Multifocal Dystonia
Leber Optic Atrophy And Dystonia

  • LDYT

  • Marsden Syndrome

  • Leber Hereditary Optic Neuropathy With Dystonia

  • Leber Hereditary Optic Neuropathy And Dystonia

  • Familial Dystonia With Visual Failure And Striatal Lucencies

  • Dystonia, Familial, With Visual Failure And Striatal Lucencies

  • Leber Optic Atrophy With Dystonia

  • Dystonia Familial, With Visual Failure And Striatal Lucencies

  • Lhon And Dystonia

  • Leber'S Hereditary Optic Neuropathy With Dystonia
Dystonia 11, Myoclonic

  • Myoclonic Dystonia

  • Myoclonus-Dystonia Syndrome

  • DYT11

  • Myoclonic Dystonia 11

  • Alcohol-Responsive Dystonia

  • Myoclonus, Hereditary Essential

  • Dystonia-11, Myoclonic

  • Myoclonus-Dystonia

  • Dystonia 11

  • Hereditary Essential Myoclonus

  • Dystonia, Alcohol-Responsive

  • Dyt-Sgce

  • Dystonia, Alcohol Responsive

  • Dystonia-11

  • Dystonia, Myoclonic

  • Dystonia, Myoclonic, Type 11
Spastic Ataxia

  • Spax

  • Ataxia, Spastic
Leber Plus Disease

  • Leber Congenital Amaurosis

  • Lca

  • Leber'S Amaurosis

  • Leber'S Disease

  • Amaurosis Congenita Of Leber

  • Amaurosis Congenita Of Leber, Type 1

  • Lhon Plus Disease

  • Congenital Absence Of The Rods And Cones

  • Congenital Retinal Blindness

  • Crb

  • Congenital Amaurosis Of Retinal Origin

  • Leber'S Congenital Amaurosis

  • Leber Congenital Amaurosis 1

  • Leber'S Congenital Tapetoretinal Degeneration

  • Leber'S Congenital Tapetoretinal Dysplasia

  • Lca1

  • Leber Congenital Amaurosis Type 1

  • Retinal Blindness, Congenital

  • Amaurosis, Leber Congenital

  • Dysgenesis Neuroepithelialis Retinae

  • Hereditary Epithelial Dysplasia Of Retina

  • Hereditary Retinal Aplasia

  • Heredoretinopathia Congenitalis

  • Leber Abiotrophy

  • Leber Congenital Tapetoretinal Degeneration

  • Lebers Congenital Amaurosis

  • Optic Atrophy, Hereditary, Leber
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS04106 DYTN Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Felis catus DYTN VGNC VGNC:61690
Rattus norvegicus DYTN RGD RGD:2320917
Macaca mulatta DYTN VGNC VGNC:99359
Mus musculus DYTN MGD MGI:2685061
Canis familiaris DYTN VGNC VGNC:54940
Bos taurus DYTN VGNC VGNC:52765
Others DYTN NCBI