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  2. DUXA - double homeobox A Gene

DUXA - double homeobox A Gene

中文名称:双同源框 A

种属: Homo sapiens

基因 ID: 503835 | 基因类型: protein coding

关于 DUXA

Cytogenetic location: 19q13.43 Genomic coordinates (GRCh38): 19:57,154,021-57,167,485 (from NCBI)

This gene has 1 transcript (splice variant), 45 orthologues and 50 paralogues. Low expression observed in reference dataset.

功能概要

同源框基因编码 DNA 结合蛋白,其中许多被认为与早期胚胎发育有关。同源框基因编码 60 至 63 个氨基酸的 DNA 结合域,称为同源域。该基因是 DUXA 同源框基因家族的成员。尚未发现该基因 mRNA 表达的证据。已发现多个相关的加工假基因,它们被认为反映了该基因在种系或胚胎细胞中的表达。[RefSeq 提供,2008 年 7 月]

Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 Amino acids referred to as the homeodomain. This gene is a member of the DUXA homeobox gene family. Evidence of mRNA expression has not yet been found for this gene. Multiple, related processed pseudogenes have been found which are thought to reflect expression of this gene in the germ line or embryonic cells. [provided by RefSeq, Jul 2008]

DUXA 基因产物(1)

mRNA Protein Name
NM_001012729.2 NP_001012747.1 double homeobox protein A
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DUXA 蛋白结构

Homeobox

Homeobox: Homeobox domain (16 - 70)

Homeobox

Homeobox: Homeobox domain (102 - 155)

  • 0
  • 100
  • 204 a.a.
蛋白主名 其他名称

double homeobox protein A

关联疾病

疾病名称 别名
Corneal Dystrophy, Posterior Polymorphous, 1

Posterior Polymorphous Corneal Dystrophy

Ppcd

Maumenee Corneal Dystrophy

Posterior Polymorphous Corneal Dystrophy 1

PPCD1

Corneal Dystrophy, Hereditary Polymorphous Posterior

Corneal Endothelial Dystrophy 1, Autosomal Dominant

Schlichting Dystrophy

Ched1

Corneal Endothelial Dystrophy 1, Autosomal Dominant, Formerly

Ched1, Formerly

Hereditary Polymorphus Posterior Corneal Dystrophy

Posterior Polymorphous Dystrophy

Hereditary Polymorphous Posterior Corneal Dystrophy

Dystrophy, Corneal, Posterior Polymorphous

Dystrophy, Corneal, Posterior Polymorphous, Type 1

Polymorphous Corneal Dystrophy

Corneal Endothelial Dystrophy 2

Facioscapulohumeral Muscular Dystrophy 1

Facioscapulohumeral Muscular Dystrophy

Fshd

Landouzy-Dejerine Muscular Dystrophy

Muscular Dystrophy, Facioscapulohumeral

FSHD1

Fshd1a

Muscular Dystrophy, Facioscapulohumeral, Type 1a

Facioscapulohumeral Muscular Dystrophy Type 1a

Fsh Muscular Dystrophy

Facioscapulohumeral Muscular Dystrophy 1a

Facioscapulohumeral Atrophy

Facioscapulohumeral Myopathy

Muscular Dystrophy, Facioscapulohumeral, Type 1

Facioscapulohumeral Muscular Dystrophy Type 1

Landouzy Dejerine Muscular Dystrophy

Muscular Dystrophy, Landouzy-Dejerine

Fshmd1a

Facio-Scapulo-Humeral Dystrophy

Facioscapulohumeral Type Progressive Muscular Dystrophy

Facioscapuloperoneal Muscular Dystrophy

Facioscapulohumeral Dystrophy

Fsh Dystrophy

Landouzy-Dejerine Dystrophy

Landouzy-Dejerine Myopathy

Fmd

Facioscapulohumeral Muscular Dystrophy-1a

Muscular Dystrophy Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral

Dystrophy, Muscular, Facioscapulohumeral, Type 1

Landouzy-Dejerine Disease

Landouzy-Déjerine Atrophy

Facioscapulohumeral Muscle Dystrophy

Fmd - [Facioscapulohumeral Muscular Dystrophy]

Fsh - [Facioscapulohumeral Muscular Dystrophy]

Fshd - [Facioscapulohumeral Muscular Dystrophy]

Landouzy-Déjerine Dystrophy Or Facioscapulohumeral Atrophy

Landouzy-Déjérine Muscular Dystrophy

Yaws

Frambesia

Frambesia Tropica

Bouba

Frambosie

Polypapilloma Tropicum

Thymosis

Endemic Treponematoses

Treponema Pertenue Infection

Pian

Framboesia

Framboesia Tropica

Castellani

Infection By Treponema Pertenue

Parangi

Framboesioma

Chancre Of Yaws

Primary Framboesia

Initial Lesions Of Yaws

Mother Yaw

Initial Framboesia

Bejel

Njovera

Dichuchwa

Nonvenereal Endemic Syphilis

Endemic Syphilis

Frenga

Nonvenereal Syphilis

Treponemal Infections

Non-Venereal Endemic Syphilis

Siti

Skerljevo

Belesh

Facioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy 2

FSHD2

Fshd1b

Facioscapulohumeral Muscular Dystrophy 1b

Fshd2, Digenic

Muscular Dystrophy, Facioscapulohumeral, Type 2

Muscular Dystrophy, Facioscapulohumeral, Type 1b

Fascioscapulohumeral Muscular Dystrophy 2, Digenic

Facioscapulohumeral Muscular Dystrophy Type 2

Digenic Facioscapulohumeral Muscular Dystrophy

Digenic Fshd2

Facioscapulohumeral Muscular Dystrophy Type 1b

Dystrophy, Muscular, Facioscapulohumeral, Type 2

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