1. Gene
  2. NOBOX - NOBOX oogenesis homeobox Gene

NOBOX - NOBOX oogenesis homeobox Gene

中文名称:NOBOX 卵子发生同源框

种属: Homo sapiens

同用名: OG2; OG-2; OG2X; POF5; TCAG_12042

基因 ID: 135935 | 基因类型: protein coding

关于 NOBOX

Cytogenetic location: 7q35 Genomic coordinates (GRCh38): 7:144,396,900-144,410,227 (from NCBI)

This gene has 4 transcripts (splice variants), 1 gene allele, 146 orthologues, 50 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

这种同源盒基因编码的转录因子被认为在卵子发生中起作用。在小鼠中,它对于卵泡发生和卵母细胞特异性基因的调节至关重要。该基因的缺陷会导致 5 型卵巢早衰。[RefSeq 提供,2011 年 5 月]

This homeobox gene encodes a transcription factor that is thought to play a role in oogenesis. In mice, it is essential for folliculogenesis and regulation of oocyte-specific genes. Defects in this gene result in premature ovarian failure type 5.[provided by RefSeq, May 2011]

NOBOX 基因产物(1)

mRNA Protein Name
NM_001080413.3 NP_001073882.3 homeobox protein NOBOX
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
27798098 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
27798098 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

NOBOX 蛋白结构

Homeobox

Homeobox: Homeobox domain (273 - 317)

  • 0
  • 200
  • 400
  • 600
  • 691 a.a.
蛋白主名 其他名称

homeobox protein NOBOX

newborn ovary homeobox-encoding

关联疾病

疾病名称 别名
Premature Ovarian Failure 5

POF5

Ovarian Failure, Premature, Type 5

Genetic Non-Acquired Premature Ovarian Failure
Amenorrhea

Absence Of Menstruation

Amenia

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Blepharophimosis, Ptosis, And Epicanthus Inversus

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome

BPES

Blepharophimosis Syndrome

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 1

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome

Bpes With Duane Retraction Syndrome

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 2

Blepharophimosis, Ptosis, And Epicanthus Inversus Syndrome Type 1

Blepharophimosis, Epicanthus Inversus, And Ptosis, Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 2

Bpes Type 2

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Without Premature Ovarian Failure

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus

3q23 Microdeletion Syndrome

Bpes Plus

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type 1

Bpes Type 1

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome With Premature Ovarian Failure

Blepharophimosis, Ptosis, Epicanthus Inversus

Autosomal Dominant Bpes Type I

Autosomal Recessive Bpes Type I

Bpes Type I

Bpes Type Ii

Bpes Without Ovarian Failure

Bpes With Ovarian Failure

Blepharophimosis Syndrome Type 1

Blepharophimosis Syndrome Type 2

Perrault Syndrome

Gonadal Dysgenesis, Xx Type, With Deafness

Ovarian Dysgenesis With Sensorineural Deafness

Gonadal Dysgenesis, Xx Type

Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance

Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance

Xx Gonodal Dysgenesis-Deafness Syndrome

Xx Gonodal Dysgenesis-Hearing Loss Syndrome

Gonadal Dysgenesis Xx Type Deafness

Eyelid Disease

Eyelid Diseases

Eyelid Disorders

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Fanconi Anemia, Complementation Group A

Fanconi Anemia

Fanconi Pancytopenia

Fanconi Anemia Complementation Group A

FANCA

Fa

Fanconi Panmyelopathy

Fanconi'S Anemia

Fanconi Anaemia

Fanconi'S Anaemia

Fanconi Hypoplastic Anemia

Estren-Dameshek Variant Of Fanconi Anemia

Estren-Dameshek Variant Of Fanconi Pancytopenia

Fanconi Anemia Estren-Dameshek Variant

Fanconis Anemia

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus NOBOX VGNC VGNC:32145
Felis catus NOBOX VGNC VGNC:63844
Mus musculus NOBOX MGD MGI:108011
Canis familiaris NOBOX VGNC VGNC:51816
Rattus norvegicus NOBOX RGD RGD:1563929
Macaca mulatta NOBOX VGNC VGNC:81728