1. Gene
  2. RBFOX2 - RNA binding fox-1 homolog 2 Gene

RBFOX2 - RNA binding fox-1 homolog 2 Gene

中文名称:RNA 结合 fox-1 同系物 2

种属: Homo sapiens

同用名: RTA; fxh; FOX2; RBM9; Fox-2; HNRBP2; HRNBP2; dJ106I20.3

基因 ID: 23543 | 基因类型: protein coding

关于 RBFOX2

Cytogenetic location: 22q12.3 Genomic coordinates (GRCh38): 22:35,738,736-36,028,824 (from NCBI)

This gene has 20 transcripts (splice variants), 1 gene allele, 266 orthologues and 2 paralogues. Ubiquitous expression in endometrium (RPKM 22.3), ovary (RPKM 20.4) and 23 other tissues.

功能概要

该基因是与秀丽隐杆线虫基因 Fox-1 相似的几个人类基因之一。该基因编码一种 RNA 结合蛋白,该蛋白被认为是神经系统和其他细胞类型中可变外显子剪接的关键调节因子。该蛋白质与许多可变剪接外显子下游发现的保守 UGCAUG 元件结合,并促进成熟转录本中包含可变外显子。该蛋白还与雌激素受体 1 转录因子相互作用并调节雌激素受体 1 的转录活性。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene is one of several human genes similar to the C. elegans gene Fox-1. This gene encodes an RNA binding protein that is thought to be a key regulator of alternative exon splicing in the nervous system and Other cell types. The protein binds to a conserved UGCAUG element found downstream of many alternatively spliced exons and promotes inclusion of the alternative exon in mature transcripts. The protein also interacts with the Estrogen Receptor 1 transcription factor and regulates Estrogen Receptor 1 transcriptional activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

RBFOX2 基因产物(26)

mRNA Protein Name
NM_001031695.4 NP_001026865.1 RNA binding protein fox-1 homolog 2 isoform 1
NM_001082576.3 NP_001076045.1 RNA binding protein fox-1 homolog 2 isoform 3
NM_001082577.3 NP_001076046.1 RNA binding protein fox-1 homolog 2 isoform 4
NM_001082578.4 NP_001076047.2 RNA binding protein fox-1 homolog 2 isoform 5
NM_001082579.3 NP_001076048.2 RNA binding protein fox-1 homolog 2 isoform 6
NM_001349982.2 NP_001336911.1 RNA binding protein fox-1 homolog 2 isoform 8
NM_001349983.2 NP_001336912.1 RNA binding protein fox-1 homolog 2 isoform 7
NM_001349989.2 NP_001336918.1 RNA binding protein fox-1 homolog 2 isoform 9
NM_001349990.2 NP_001336919.1 RNA binding protein fox-1 homolog 2 isoform 10
NM_001349991.2 NP_001336920.1 RNA binding protein fox-1 homolog 2 isoform 11
NM_001349992.2 NP_001336921.1 RNA binding protein fox-1 homolog 2 isoform 12
NM_001349994.2 NP_001336923.1 RNA binding protein fox-1 homolog 2 isoform 13
NM_001349995.2 NP_001336924.1 RNA binding protein fox-1 homolog 2 isoform 14
NM_001349996.2 NP_001336925.1 RNA binding protein fox-1 homolog 2 isoform 15
NM_001349997.2 NP_001336926.1 RNA binding protein fox-1 homolog 2 isoform 16
NM_001349998.2 NP_001336927.1 RNA binding protein fox-1 homolog 2 isoform 17
NM_001349999.2 NP_001336928.2 RNA binding protein fox-1 homolog 2 isoform 18
NM_001394108.1 NP_001381037.1 RNA binding protein fox-1 homolog 2 isoform 19
NM_001394109.1 NP_001381038.1 RNA binding protein fox-1 homolog 2 isoform 20
NM_001394110.1 NP_001381039.1 RNA binding protein fox-1 homolog 2 isoform 21
NM_001394111.1 NP_001381040.1 RNA binding protein fox-1 homolog 2 isoform 22
NM_001394112.1 NP_001381041.1 RNA binding protein fox-1 homolog 2 isoform 23
NM_001394113.1 NP_001381042.1 RNA binding protein fox-1 homolog 2 isoform 24
NM_001394114.1 NP_001381043.1 RNA binding protein fox-1 homolog 2 isoform 25
NM_001394115.1 NP_001381044.1 RNA binding protein fox-1 homolog 2 isoform 26
NM_014309.4 NP_055124.1 RNA binding protein fox-1 homolog 2 isoform 2
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables DNA-binding transcription factor binding IDA
IDA: 通过直接分析推断
11875103 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
11875103 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11875103 GOA
enables transcription corepressor activity IDA
IDA: 通过直接分析推断
11875103 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in estrogen receptor signaling pathway IDA
IDA: 通过直接分析推断
11875103 GOA
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
11875103 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IDA
IDA: 通过直接分析推断
11875103 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

RBFOX2 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (185 - 252)

Fox-1_C

Fox-1_C: Calcitonin gene-related peptide regulator C terminal (326 - 423)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 451 a.a.
蛋白主名 其他名称

RNA binding protein fox-1 homolog 2

RNA binding protein, fox-1 homolog 2

RBFOX2 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
种属内
RBFOX2 O43251 CAMK2B Homo sapiens Q13554
Y2H Array
25416956
种属内
RBFOX2 O43251 VAC14 Homo sapiens Q08AM6
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 VAC14 Homo sapiens Q08AM6
Y2H Array
29892012
种属内
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Validated Y2H
25416956
种属内
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Y2H Array
25416956
种属内
RBFOX2 O43251 NAF1 Homo sapiens Q96HR8
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 PSMA3 Homo sapiens P25788
Y2H Array
25416956
种属内
RBFOX2 O43251 HNRNPF Homo sapiens P52597
Y2H
22365833
种属内
RBFOX2 O43251 HNRNPF Homo sapiens P52597
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 RHOXF2 Homo sapiens Q9BQY4
Y2H Pooling
16189514
种属内
RBFOX2 O43251 RHOXF2 Homo sapiens Q9BQY4
Y2H Array
20211142
种属内
RBFOX2 O43251 RNF8 Homo sapiens O76064
Y2H Array
25416956
种属内
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Validated Y2H
25416956
种属内
RBFOX2 O43251 MAGED1 Homo sapiens Q9Y5V3
Y2H Array
25416956
种属内
RBFOX2 O43251 DAZAP2 Homo sapiens Q15038
Anti Tag CoIP
33961781
种属内
RBFOX2 O43251 DAZAP2 Homo sapiens Q15038
Validated Y2H
25416956
种属内
RBFOX2 O43251 RBPMS Homo sapiens Q93062
Anti Tag CoIP
33961781
种属内
RBFOX2 O43251 MAPK1IP1L Homo sapiens Q8NDC0
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 ESR1 Homo sapiens P03372
Anti Tag CoIP
11875103
种属内
RBFOX2 O43251 ESR1 Homo sapiens P03372
Y2H
11875103
种属内
RBFOX2 O43251 DAB1 Homo sapiens O75553
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 DAB1 Homo sapiens O75553
Validated Y2H
25416956
种属内
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Array
16713569
种属内
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H
16713569
种属内
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Y2H Prey Pooling
23275563
种属内
RBFOX2 O43251 ATXN1 Homo sapiens P54253
Validated Y2H
25416956
种属内
RBFOX2 O43251 QKI Homo sapiens Q96PU8
Y2H Array
16713569
种属内
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Y2H Array
25416956
种属内
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Validated Y2H
25416956
种属内
RBFOX2 O43251 C1orf94 Homo sapiens Q6P1W5
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Prey Pooling
25416956
种属内
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Array
31515488
种属内
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Validated Y2H
25416956
种属内
RBFOX2 O43251 BOLL Homo sapiens Q8N9W6
Y2H Array
25416956
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
Hypoplastic Left Heart Syndrome

Hlhs

Heart, Hypoplastic Left, Syndrome

Hypoplasia Of The Left Heart

Left Heart Hypoplasia Syndrome

Hlhs - [Hypoplastic Left Heart Syndrome]

Hypoplasia Of Aortic Valve, In Hypoplastic Left Heart Syndrome

Atresia Of Mitral Valve, In Hypoplastic Left Heart Syndrome

Atresia Or Marked Hypoplasia Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle

Atresia Or Marked Hypoplasia, Of Aortic Orifice Or Valve, With Hypoplasia Of Ascending Aorta And Defective Development Of Left Ventricle With Mitral Valve Atresia

Aortic Valve Atresia, In Hypoplastic Left Heart Syndrome

Ascending Aorta Hypoplasia, In Hypoplastic Left Heart Syndrome

Disorder Of Sexual Development

Disorder Of Sex Development

Disorders Of Sex Development

Sex Development Disorder

Sex Differentiation Disease

Dsd

Sex Differentiation Disorders

Myopathy, Centronuclear, 4

CNM4

Centronuclear Myopathy 4

Congenital Myopathy With Internal Nuclei And Atypical Cores

Centronuclear Myopathy Type 4

Myopathy, Centronuclear, Type 4

Myopathy, Centronuclear, 5

CNM5

Centronuclear Myopathy 5

Myopathy, Centronuclear, Type 5

Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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
Canis familiaris RBFOX2 VGNC VGNC:45399
Macaca mulatta RBFOX2 VGNC VGNC:76685
Bos taurus RBFOX2 VGNC VGNC:33778
Felis catus RBFOX2 VGNC VGNC:69267
Mus musculus RBFOX2 MGD MGI:1933973
Rattus norvegicus RBFOX2 RGD RGD:1311838