1. Gene
  2. ELAVL2 - ELAV like RNA binding protein 2 Gene

ELAVL2 - ELAV like RNA binding protein 2 Gene

中文名称:ELAV 样 RNA 结合蛋白 2

种属: Homo sapiens

同用名: HUB; HELN1; HEL-N1

基因 ID: 1993 | 基因类型: protein coding

关于 ELAVL2

Cytogenetic location: 9p21.3 Genomic coordinates (GRCh38): 9:23,690,104-23,850,601 (from NCBI)

This gene has 8 transcripts (splice variants), 203 orthologues and 24 paralogues. Biased expression in testis (RPKM 13.9) and brain (RPKM 8.2).

功能概要

在人类中,ELAV 样 RNA 结合蛋白基因家族有四个成员 (ELAVL1-4) 。 ELAVL RNA 结合蛋白识别基因转录物 3' UTR 中富含 AU 的元素,从而在转录后调节基因表达。由该基因编码的蛋白质与几个 3' UTR 结合,包括它自己的以及 FOS、ID 和 POU5F1 的 UTR。该基因编码 ELAVL2,与 ELAVL3 和 ELAVL4 一样,在神经元中特异性表达,主要定位于细胞质。该蛋白还与通常核定位的 ELAVL1 蛋白形成胞质复合物。该基因的可变剪接导致编码不同蛋白质同种型的多个转录变体。[RefSeq 提供,2020 年 7 月]

In humans, the ELAV like RNA binding protein gene family has four members (ELAVL1-4). ELAVL RNA binding proteins recognize AU-rich elements in the 3' UTRs of gene transcripts and thereby regulate gene expression post-transcriptionally. The protein encoded by this gene binds to several 3' UTRs, including its own and also that of FOS, ID, and POU5F1. This gene encodes ELAVL2 and, like ELAVL3 and ELAVL4, is expressed specifically in neurons and primarily localizes to the cytoplasm. This protein also forms a cytosolic complex with the normally nuclear-localized ELAVL1 protein. Alternative splicing of this gene results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Jul 2020]

ELAVL2 基因产物(41)

mRNA Protein Name
NM_001171195.2 NP_001164666.1 ELAV-like protein 2 isoform b
NM_001171197.2 NP_001164668.1 ELAV-like protein 2 isoform b
NM_001351455.2 NP_001338384.1 ELAV-like protein 2 isoform c
NM_001351456.2 NP_001338385.1 ELAV-like protein 2 isoform d
NM_001351457.2 NP_001338386.1 ELAV-like protein 2 isoform d
NM_001351458.2 NP_001338387.1 ELAV-like protein 2 isoform d
NM_001351459.2 NP_001338388.1 ELAV-like protein 2 isoform d
NM_001351460.2 NP_001338389.1 ELAV-like protein 2 isoform e
NM_001351461.2 NP_001338390.1 ELAV-like protein 2 isoform e
NM_001351462.2 NP_001338391.1 ELAV-like protein 2 isoform f
NM_001351463.2 NP_001338392.1 ELAV-like protein 2 isoform f
NM_001351464.2 NP_001338393.1 ELAV-like protein 2 isoform g
NM_001351465.2 NP_001338394.1 ELAV-like protein 2 isoform g
NM_001351466.2 NP_001338395.1 ELAV-like protein 2 isoform h
NM_001351467.2 NP_001338396.1 ELAV-like protein 2 isoform i
NM_001351468.2 NP_001338397.1 ELAV-like protein 2 isoform i
NM_001351469.2 NP_001338398.1 ELAV-like protein 2 isoform i
NM_001351470.2 NP_001338399.1 ELAV-like protein 2 isoform i
NM_001351471.2 NP_001338400.1 ELAV-like protein 2 isoform i
NM_001351472.2 NP_001338401.1 ELAV-like protein 2 isoform a
NM_001351473.2 NP_001338402.1 ELAV-like protein 2 isoform a
NM_001351474.2 NP_001338403.1 ELAV-like protein 2 isoform a
NM_001351475.2 NP_001338404.1 ELAV-like protein 2 isoform a
NM_001351476.2 NP_001338405.1 ELAV-like protein 2 isoform a
NM_001351477.2 NP_001338406.1 ELAV-like protein 2 isoform b
NM_001351478.2 NP_001338407.1 ELAV-like protein 2 isoform b
NM_001385693.1 NP_001372622.1 ELAV-like protein 2 isoform b
NM_001385694.1 NP_001372623.1 ELAV-like protein 2 isoform j
NM_001385695.1 NP_001372624.1 ELAV-like protein 2 isoform k
NM_001385696.1 NP_001372625.1 ELAV-like protein 2 isoform m
NM_001385697.1 NP_001372626.1 ELAV-like protein 2 isoform c
NM_001385698.1 NP_001372627.1 ELAV-like protein 2 isoform c
NM_001385699.1 NP_001372628.1 ELAV-like protein 2 isoform d
NM_001385700.1 NP_001372629.1 ELAV-like protein 2 isoform e
NM_001385701.1 NP_001372630.1 ELAV-like protein 2 isoform g
NM_001385702.1 NP_001372631.1 ELAV-like protein 2 isoform i
NM_001385703.1 NP_001372632.1 ELAV-like protein 2 isoform a
NM_001385704.1 NP_001372633.1 ELAV-like protein 2 isoform c
NM_001385705.1 NP_001372634.1 ELAV-like protein 2 isoform i
NM_001385707.1 NP_001372636.1 ELAV-like protein 2 isoform d
NM_004432.5 NP_004423.2 ELAV-like protein 2 isoform a

ELAVL2 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (41 - 111)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (127 - 193)

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (278 - 347)

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蛋白主名 其他名称

ELAV-like protein 2

ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)

关联疾病

疾病名称 别名
Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency

HHF4

Familial Hyperinsulinemic Hypoglycemia 4

Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Hyperinsulinism Due To Schad Deficiency

Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency

Congenital Hyperinsulinism

Schad Deficiency

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Phhi

3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

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

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Familial Spastic Paraparesis

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

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 ELAVL2 VGNC VGNC:51712
Macaca mulatta ELAVL2 VGNC VGNC:72201
Rattus norvegicus ELAVL2 RGD RGD:628611
Bos taurus ELAVL2 VGNC VGNC:52768
Mus musculus ELAVL2 MGD MGI:1100887
Felis catus ELAVL2 VGNC VGNC:61802