2. Gene
  3. OVOL2 - ovo like zinc finger 2 Gene

OVOL2 - ovo like zinc finger 2 Gene

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

中文名称：卵形锌指 2

种属: Homo sapiens

同用名: CHED; CHED1; CHED2; PPCD1; ZNF339; EUROIMAGE566589

基因 ID: 58495 | 基因类型: protein coding

关于 OVOL2

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:18,024,152-18,059,188 (from NCBI)

This gene has 5 transcripts (splice variants), 202 orthologues, 29 paralogues and is associated with 4 phenotypes. Broad expression in stomach (RPKM 6.1), colon (RPKM 3.5) and 15 other tissues.

功能概要

该基因编码进化上保守的 ovo 样蛋白家族的成员。该家族的哺乳动物成员包含一个锌指结构域，该结构域由四分体 C2H2 锌指组成，具有可变的 N 和 C 末端延伸，包含本质上无序的结构域。该家族的成员参与上皮发育和分化。在小鼠中敲除该基因会导致早期胚胎致死，表型包括神经外胚层扩张、血管形成受损和心脏异常。在人类中，该基因的等位基因变异与后部多形性角膜营养不良有关。[RefSeq 提供，2016 年 4 月]

This gene encodes a member of the evolutionarily conserved ovo-like protein family. Mammalian members of this family contain a single zinc finger domain composed of a tetrad of C2H2 zinc fingers with variable N- and C-terminal extensions that contain intrinsically disordered domains. Members of this family are involved in epithelial development and differentiation. Knockout of this gene in mouse results in early embryonic lethality with phenotypes that include neurectoderm expansion, impaired vascularization, and heart anomalies. In humans, allelic variants of this gene have been associated with posterior polymorphous corneal dystrophy. [provided by RefSeq, Apr 2016]

OVOL2 基因产物(3)

mRNA Protein Name
NM_001303461.1 NP_001290390.1 transcription factor Ovo-like 2 isoform 2
NM_001303462.1 NP_001290391.1 transcription factor Ovo-like 2 isoform 2
NM_021220.4 NP_067043.2 transcription factor Ovo-like 2 isoform 1

OVOL2 蛋白结构

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (134 - 157)

zf-H2C2_2

zf-H2C2_2: Zinc-finger double domain (161 - 185)

zf-C2H2

zf-C2H2: Zinc finger, C2H2 type (214 - 237)

  • 0
  • 100
  • 200
  • 275 a.a.
蛋白主名 其他名称

transcription factor Ovo-like 2

corneal endothelial dystrophy 1 (autosomal dominant)

OVOL2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
Intra OVOL2 Q9BRP0 ZNF526 Homo sapiens Q8TF50
Y2H Array
32296183
Intra OVOL2 Q9BRP0 ZNF526 Homo sapiens Q8TF50
Y2H Prey Pooling
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

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
Congenital Hereditary Endothelial Dystrophy Type I

Autosomal Dominant Ched

Autosomal Dominant Congenital Hereditary Endothelial Dystrophy

Ched1

Chedi

Congenital Hereditary Endothelial Dystrophy Type 1

Corneal Endothelial Dystrophy 1, Autosomal Dominant
Corneal Endothelial Dystrophy

Congenital Hereditary Endothelial Dystrophy Of Cornea

Chandler Syndrome

CHED

Chandler'S Syndrome

Endothelial Corneal Dystrophy

Ched2

Maumenee Corneal Dystrophy

Corneal Dystrophy, Congenital Hereditary Endothelial

Dystrophy Of Corneal Endothelium

Corneal Endothelial Dystrophy 2

Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly

Ched2, Formerly

Corneal Endothelial Dystrophy, Autosomal Recessive

Endothelial Dystrophy

Posterior Membrane Corneal Dystrophy

Corneal Endothelial Dystrophy Type 2

Congenital Hereditary Endothelial Dystrophy Of The Cornea

Congenital Hereditary Endothelial Dystrophy Type Ii

Autosomal Recessive Ched

Autosomal Recessive Congenital Hereditary Endothelial Dystrophy

Chedii

Congenital Hereditary Endothelial Dystrophy Type 2

Infantile Hereditary Endothelial Dystrophy

Congenital Hereditary Endothelial Corneal Dystrophy

Corneal Endothelial Dystrophy 2, Autosomal Recessive

Iridocorneal Endothelial Syndrome

Dystrophy, Corneal, Endothelial

Corneal Endothelial Dystrophy 1, Autosomal Dominant
Corneal Dystrophy
Rare Corneal Disorder
Corneal Dystrophy, Posterior Polymorphous, 3

Posterior Polymorphous Corneal Dystrophy 3

PPCD3

Dystrophy, Corneal, Posterior Polymorphous, Type 3
Corneal Dystrophy, Posterior Polymorphous, 4

PPCD4

Posterior Polymorphous Corneal Dystrophy 4
Cogan-Reese Syndrome
Corneal Edema

Corneal Oedema

Infiltrate Of Cornea
Tyrosinemia, Type Ii

Tyrosinemia Type Ii

Oculocutaneous Tyrosinemia

Richner-Hanhart Syndrome

Tyrosine Aminotransferase Deficiency

Tat Deficiency

Tyrosine Transaminase Deficiency

Keratosis Palmoplantaris With Corneal Dystrophy

TYRSN2

Oregon Type Tyrosinemia

Tyrosinemia Type 2

Tyrosinosis Oculocutaneous Type

Tyrosinosis, Oculocutaneous Type

Richner Hanhart Syndrome

Keratosis Palmoplantaris-Corneal Dystrophy Syndrome

Tyrosinemia Due To Tat Deficiency

Tyrosinemia Due To Tyrosine Aminotransferase Deficiency

Tyrosinemia 2

Tyrosinemia Oregon Type

Tyrosine Transaminase Deficiency Disease
Fuchs' Endothelial Dystrophy

Fuchs Endothelial Corneal Dystrophy

Fuchs Endothelial Dystrophy

Fuchs Dystrophy

Fced

Fuchs' Corneal Dystrophy

Fuchs' Endothelial Corneal Dystrophy

Fuchs Atrophy

Fuchs Corneal Dystrophy

Endoepithelial Corneal Dystrophy

Fecd

Late Hereditary Endothelial Dystrophy

Corneal Dystrophy, Fuchs Endothelial

Dystrophy, Corneal, Fuchs Endothelial

Corneal Dystrophy, Fuchs' Endothelial, 1
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-RS09884 OVOL2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus OVOL2 MGD MGI:1338039
Canis familiaris OVOL2 VGNC VGNC:44197
Rattus norvegicus OVOL2 RGD RGD:1306130
Macaca mulatta OVOL2 VGNC VGNC:107849
Bos taurus OVOL2 VGNC VGNC:32506
Felis catus OVOL2 VGNC VGNC:64006
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