2. Gene
  3. DYTN - dystrotelin Gene

DYTN - dystrotelin Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：抗肌萎缩蛋白

种属: Homo sapiens

基因 ID: 391475 | 基因类型: protein coding

关于 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.

功能概要

该基因属于抗肌萎缩蛋白超家族，其特征在于存在四个 EF 手基序和一个 ZZ 结构域。它可能是果蝇“不连续肌动蛋白六边形”基因的直系同源基因。值得注意的是，该基因的编码区缺少两个在小鼠直系同源物中发现的编码外显子。包括这两个外显子的人类转录本会受到无义介导的转录本衰变 (NMD) 。另一方面，跳过两个编码外显子的转录物表达水平非常低。虽然该基因保持完整的 CDS，但它可能是一个进化的假基因。然而，在 RefSeq 小组内部以及在共识编码序列 (CCDS) 协作中讨论了该基因后，决定将其作为蛋白质编码基因保留在 RefSeq、Ensembl-GENCODE 和 CCDS 集中。[RefSeq 提供，2019 年 7 月]

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 基因产物(1)

mRNA Protein Name
NM_001093730.1 NP_001087199.1 dystrotelin

DYTN 蛋白结构

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.
蛋白主名 其他名称

dystrotelin

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04106 DYTN Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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
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