DYTN - dystrotelin Gene

Homo sapiens

Gene ID: 391475 | Gene type: protein coding

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_3

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04106	DYTN Human Pre-designed siRNA Set A		/	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