1. Gene
  2. FIGLA - folliculogenesis specific bHLH transcription factor Gene

FIGLA - folliculogenesis specific bHLH transcription factor Gene

中文名称:卵泡发生特异性 bHLH 转录因子

种属: Homo sapiens

同用名: POF6; BHLHC8; FIGALPHA

基因 ID: 344018 | 基因类型: protein coding

关于 FIGLA

Cytogenetic location: 2p13.3 Genomic coordinates (GRCh38): 2:70,777,310-70,790,643 (from NCBI)

This gene has 1 transcript (splice variant), 189 orthologues, 13 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

功能概要

该基因编码一种在出生后卵母细胞特异性基因表达中起作用的蛋白质。该蛋白质是一种基本的螺旋-环-螺旋转录因子,可调节多个卵母细胞特异性基因,包括参与卵泡发生的基因和编码透明带的基因。该基因的突变导致 6 型卵巢早衰。[RefSeq 提供,2009 年 9 月]

This gene encodes a protein that functions in postnatal oocyte-specific gene expression. The protein is a basic helix-loop-helix transcription factor that regulates multiple oocyte-specific genes, including genes involved in folliculogenesis and those that encode the zona pellucida. Mutations in this gene cause premature ovarian failure type 6. [provided by RefSeq, Sep 2009]

FIGLA 基因产物(1)

mRNA Protein Name
NM_001004311.3 NP_001004311.2 factor in the germline alpha
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
contributes to E-box binding IPI
IPI: 通过物理相互作用推断
15044608 GOA
enables bHLH transcription factor binding IPI
IPI: 通过物理相互作用推断
15044608 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
enables sequence-specific double-stranded DNA binding IDA
IDA: 通过直接分析推断
28473536 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of transcription regulator complex IDA
IDA: 通过直接分析推断
15044608 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

FIGLA 蛋白结构

HLH

HLH: Helix-loop-helix DNA-binding domain (66 - 117)

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

factor in the germline alpha

class C basic helix-loop-helix protein 8

FIGLA 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 FIGLA Q6QHK4 LHX6 Homo sapiens Q9UPM6
Validated Y2H
32296183
Intra FIGLA Q6QHK4 LHX6 Homo sapiens Q9UPM6
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 LHX6 Homo sapiens Q9UPM6
Y2H Array
32296183
Intra FIGLA Q6QHK4 TCF12 Homo sapiens Q99081-3
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 TCF12 Homo sapiens Q99081-3
Validated Y2H
32296183
Intra FIGLA Q6QHK4 TCF12 Homo sapiens Q99081-3
Y2H Array
32296183
Intra FIGLA Q6QHK4 LHX3 Homo sapiens Q9UBR4-2
Validated Y2H
32296183
Intra FIGLA Q6QHK4 LHX3 Homo sapiens Q9UBR4-2
Y2H Array
32296183
Intra FIGLA Q6QHK4 LHX3 Homo sapiens Q9UBR4-2
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 TCF23 Homo sapiens Q7RTU1
Validated Y2H
32296183
Intra FIGLA Q6QHK4 TCF23 Homo sapiens Q7RTU1
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 TCF23 Homo sapiens Q7RTU1
Y2H Array
32296183
Intra FIGLA Q6QHK4 TCF4 Homo sapiens P15884-3
Y2H Array
32296183
Intra FIGLA Q6QHK4 TCF4 Homo sapiens P15884-3
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 MYF5 Homo sapiens P13349
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 MYF5 Homo sapiens P13349
Y2H Array
32296183
Intra FIGLA Q6QHK4 MYOG Homo sapiens P15173
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 MYOG Homo sapiens P15173
Y2H Array
32296183
Intra FIGLA Q6QHK4 MYOD1 Homo sapiens P15172
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 MYOD1 Homo sapiens P15172
Y2H Array
32296183
Intra FIGLA Q6QHK4 LHX8 Homo sapiens Q68G74
Y2H Prey Pooling
32296183
Intra FIGLA Q6QHK4 LHX8 Homo sapiens Q68G74
Y2H Array
32296183
Intra FIGLA Q6QHK4 LHX8 Homo sapiens Q68G74
Anti Tag CoIP
33961781
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
Premature Ovarian Failure 6

POF6

Ovarian Failure, Premature, Type 6

Genetic Non-Acquired Premature Ovarian Failure
Ovarian Dysgenesis 2

Premature Ovarian Failure 4

ODG2

Ovarian Dysgenesis, Hypergonadotropic, X-Linked

Ovarian Failure, Hypergonadotropic, Due To Ovarian Dysgenesis

Ovarian Failure Hypergonadotropic Due To Ovarian Dysgenesis

X-Linked Hypergonadotropic Ovarian Dysgenesis

POF4

Dysgenesis, Ovarian, Type 2

46 Xx Gonadal Dysgenesis

Ovarian Dysgenesis

Gonadal Dysgenesis, 46,Xx

Dysgenesis, Ovarian

Amenorrhea

Absence Of Menstruation

Amenia

Hermaphroditism
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

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

Multiple Synostoses Syndrome

Symphalangism-Brachydactyly Syndrome

Deafness-Hermann Type Symphalangism Syndrome

Facio-Audio-Symphalangism

Hearing Loss-Hermann Type Symphalangism Syndrome

Wl Syndrome

Multiple Synostosis Syndrome

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

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

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
Macaca mulatta FIGLA VGNC VGNC:72563
Canis familiaris FIGLA VGNC VGNC:54149
Mus musculus FIGLA MGD MGI:1349421
Bos taurus FIGLA VGNC VGNC:29009
Felis catus FIGLA VGNC VGNC:80099
Rattus norvegicus FIGLA RGD RGD:1564754