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  2. CELF2 - CUGBP Elav-like family member 2 Gene

CELF2 - CUGBP Elav-like family member 2 Gene

中文名称:CUGBP 类 Elav 家族成员 2

种属: Homo sapiens

同用名: ETR3; DEE97; ETR-3; NAPOR; CELF-2; CUGBP2; BRUNOL3; CUG-BP2

基因 ID: 10659 | 基因类型: protein coding

关于 CELF2

Cytogenetic location: 10p14 Genomic coordinates (GRCh38): 10:10,462,550-11,336,675 (from NCBI)

This gene has 17 transcripts (splice variants), 292 orthologues, 6 paralogues and is associated with 3 phenotypes. Broad expression in brain (RPKM 19.5), bone marrow (RPKM 16.3) and 21 other tissues.

功能概要

CELF/BRUNOL 蛋白家族的成员包含两个 N 端 RNA 识别基序 (RRM) 结构域、一个 C 端 RRM 结构域,以及第二个和第三个 RRM 结构域之间的 160-230 aa 的不同片段。该蛋白家族的成员调节 pre-mRNA 可变剪接,也可能参与 mRNA 编辑和翻译。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

Members of the CELF/BRUNOL protein family contain two N-terminal RNA recognition motif (RRM) domains, one C-terminal RRM domain, and a divergent segment of 160-230 aa between the second and third RRM domains. Members of this protein family regulate pre-mRNA alternative splicing and may also be involved in mRNA editing, and translation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

CELF2 基因产物(41)

mRNA Protein Name
NM_001025076.2 NP_001020247.1 CUGBP Elav-like family member 2 isoform 1
NM_001025077.3 NP_001020248.1 CUGBP Elav-like family member 2 isoform 3
NM_001083591.1 NP_001077060.1 CUGBP Elav-like family member 2 isoform 4
NM_001326317.2 NP_001313246.1 CUGBP Elav-like family member 2 isoform 5
NM_001326318.2 NP_001313247.1 CUGBP Elav-like family member 2 isoform 1
NM_001326319.2 NP_001313248.1 CUGBP Elav-like family member 2 isoform 23
NM_001326320.2 NP_001313249.1 CUGBP Elav-like family member 2 isoform 1
NM_001326321.2 NP_001313250.1 CUGBP Elav-like family member 2 isoform 6
NM_001326323.2 NP_001313252.1 CUGBP Elav-like family member 2 isoform 7
NM_001326324.2 NP_001313253.1 CUGBP Elav-like family member 2 isoform 1
NM_001326325.2 NP_001313254.1 CUGBP Elav-like family member 2 isoform 8
NM_001326326.2 NP_001313255.1 CUGBP Elav-like family member 2 isoform 9
NM_001326327.2 NP_001313256.1 CUGBP Elav-like family member 2 isoform 10
NM_001326328.2 NP_001313257.1 CUGBP Elav-like family member 2 isoform 1
NM_001326329.2 NP_001313258.1 CUGBP Elav-like family member 2 isoform 5
NM_001326330.2 NP_001313259.1 CUGBP Elav-like family member 2 isoform 1
NM_001326331.2 NP_001313260.1 CUGBP Elav-like family member 2 isoform 11
NM_001326332.2 NP_001313261.1 CUGBP Elav-like family member 2 isoform 3
NM_001326333.2 NP_001313262.1 CUGBP Elav-like family member 2 isoform 12
NM_001326334.2 NP_001313263.1 CUGBP Elav-like family member 2 isoform 1
NM_001326335.2 NP_001313264.1 CUGBP Elav-like family member 2 isoform 13
NM_001326336.2 NP_001313265.1 CUGBP Elav-like family member 2 isoform 14
NM_001326337.2 NP_001313266.1 CUGBP Elav-like family member 2 isoform 15
NM_001326338.2 NP_001313267.1 CUGBP Elav-like family member 2 isoform 16
NM_001326339.2 NP_001313268.1 CUGBP Elav-like family member 2 isoform 17
NM_001326340.2 NP_001313269.1 CUGBP Elav-like family member 2 isoform 18
NM_001326341.2 NP_001313270.1 CUGBP Elav-like family member 2 isoform 19
NM_001326342.2 NP_001313271.1 CUGBP Elav-like family member 2 isoform 2
NM_001326343.2 NP_001313272.1 CUGBP Elav-like family member 2 isoform 22
NM_001326344.2 NP_001313273.1 CUGBP Elav-like family member 2 isoform 5
NM_001326345.2 NP_001313274.1 CUGBP Elav-like family member 2 isoform 1
NM_001326346.2 NP_001313275.1 CUGBP Elav-like family member 2 isoform 20
NM_001326347.1 NP_001313276.1 CUGBP Elav-like family member 2 isoform 21
NM_001326348.2 NP_001313277.1 CUGBP Elav-like family member 2 isoform 5
NM_001326349.2 NP_001313278.1 CUGBP Elav-like family member 2 isoform 1
NM_001394502.1 NP_001381431.1 CUGBP Elav-like family member 2 isoform 11
NM_001394513.1 NP_001381442.1 CUGBP Elav-like family member 2 isoform 19
NM_001394517.1 NP_001381446.1 CUGBP Elav-like family member 2 isoform 5
NM_001394518.1 NP_001381447.1 CUGBP Elav-like family member 2 isoform 24
NM_001394519.1 NP_001381448.1 CUGBP Elav-like family member 2 isoform 24
NM_006561.4 NP_006552.3 CUGBP Elav-like family member 2 isoform 2

CELF2 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (43 - 111)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (134 - 198)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (425 - 494)

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蛋白主名 其他名称

CUGBP Elav-like family member 2

CUG triplet repeat RNA-binding protein 2

CELF2 抗体

目录号 产品名 应用 反应物种
HY-P82735 CELF2 Antibody (YA2480) WB, IHC-F, IHC-P, ICC/IF, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 97

DEE97

Encephalopathy, Developmental And Epileptic, Type 97

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Myotonic Dystrophy 1

Myotonic Dystrophy

Dystrophia Myotonica

Steinert Disease

Myotonic Dystrophy Type 1

Myotonia Atrophica

DM1

Congenital Myotonic Dystrophy

Myotonia Dystrophica

Steinert Myotonic Dystrophy

Dystrophia Myotonica 1

Dm

Steinert'S Disease

Steinert Myotonic Dystrophy Syndrome

Myotonic Dystrophy Of Steinert

Dystrophia Myotonica Type 1

Myotonic Dystrophy Congenital

Dystrophy, Myotonic, Type 1

Dm - [Dystrophia Myotonica]

Myotonic Muscular Dystrophy

Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

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
Rattus norvegicus CELF2 RGD RGD:68347
Felis catus CELF2 VGNC VGNC:60745
Canis familiaris CELF2 VGNC VGNC:39094
Mus musculus CELF2 MGD MGI:1338822
Macaca mulatta CELF2 VGNC VGNC:106020