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  2. HNRNPH2 - heterogeneous nuclear ribonucleoprotein H2 Gene

HNRNPH2 - heterogeneous nuclear ribonucleoprotein H2 Gene

中文名称:异质核核糖核蛋白 H2

种属: Homo sapiens

同用名: FTP3; MRXSB; NRPH2; HNRPH'; HNRPH2; hnRNPH'

基因 ID: 3188 | 基因类型: protein coding

关于 HNRNPH2

Cytogenetic location: Xq22.1 Genomic coordinates (GRCh38): X:101,408,222-101,414,133 (from NCBI)

This gene has 1 transcript (splice variant), 130 orthologues, 8 paralogues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 50.7), adrenal (RPKM 42.7) and 25 other tissues.

功能概要

该基因属于普遍表达的异质核核糖核蛋白 (hnRNP) 亚家族。 hnRNPs 是 RNA 结合蛋白,它们与异质核 RNA (hnRNA) 复合。这些蛋白质与细胞核中的前体 mRNA 相关,并且似乎影响前体 mRNA 加工以及 mRNA 代谢和运输的其他方面。虽然所有的 hnRNPs 都存在于细胞核中,但有些似乎在细胞核和细胞质之间穿梭。 hnRNP 蛋白具有独特的核酸结合特性。由该基因编码的蛋白质具有三个重复的与 RNA 结合的准 RRM 结构域。它与家族成员 HNRPH1 非常相似。该基因被认为与法布雷病和 X 连锁无丙种球蛋白血症表型有关。可变剪接导致编码相同蛋白质的多个转录变体。已观察到该基因座与核糖体蛋白 L36a 基因之间的通读转录。[RefSeq 提供,2011 年 1 月]

This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and Other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has three repeats of quasi-RRM domains that binds to RNAs. It is very similar to the family member HNRPH1. This gene is thought to be involved in Fabray disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. Read-through transcription between this locus and the ribosomal protein L36a gene has been observed. [provided by RefSeq, Jan 2011]

HNRNPH2 基因产物(2)

mRNA Protein Name
NM_001032393.3 NP_001027565.1 heterogeneous nuclear ribonucleoprotein H2
NM_019597.5 NP_062543.1 heterogeneous nuclear ribonucleoprotein H2

HNRNPH2 蛋白结构

(14 - 84)

(113 - 182)

zf-RNPHF

zf-RNPHF: RNPHF zinc finger (255 - 290)

(291 - 358)

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

heterogeneous nuclear ribonucleoprotein H2

FTP-3

HNRNPH2 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
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4
Y2H Array
32296183
种属内
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4
Y2H Prey Pooling
25416956
种属内
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4
Y2H Prey Pooling
32296183
种属内
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4
Validated Y2H
32296183
种属内
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4
Y2H Array
25416956
种属内
HNRNPH2 P55795 CCNK Homo sapiens O75909-2
Y2H Array
32296183
种属内
HNRNPH2 P55795 CCNK Homo sapiens O75909-2
Y2H Prey Pooling
32296183
种属内
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6
Y2H Prey Pooling
32296183
种属内
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6
Validated Y2H
25416956
种属内
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6
Validated Y2H
32296183
种属内
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6
Y2H Array
32296183
种属内
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809
Anti Tag CoIP
28514442
种属内
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809
Anti Tag CoIP
26496610
种属内
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809
Anti Tag CoIP
33961781
种属内
HNRNPH2 P55795 HSF2BP Homo sapiens O75031
Y2H Array
32296183
种属内
HNRNPH2 P55795 HSF2BP Homo sapiens O75031
Y2H Prey Pooling
32296183
种属内
HNRNPH2 P55795 MSI1 Homo sapiens O43347
Y2H Prey Pooling
32296183
种属内
HNRNPH2 P55795 MSI1 Homo sapiens O43347
Y2H Array
32296183
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type

MRXSB

Mental Retardation, X-Linked, Syndromic, Bain Type

Intellectual Developmental Disorder, X-Linked Syndromic, Bain Type

Bain Type Of X-Linked Syndromic Intellectual Disability

Intellectual Disability, X-Linked, Syndromic, Bain Type

Hnrnph2 Deficiency

Motor Stereotypies

Motor Stereotypy

Stereotypic Movement Disorder

Stereotypy Habit Disorder

Stereotyped Repetitive Movements

Stereotyped Disorder

Stereotypes Nos

Stereotype Habit Disorder

Syndromic X-Linked Intellectual Disability 94

Mrx94

Mrxs29

Syndromic X-Linked Intellectual Disability Due To Gria3 Anomalies

Syndromic X-Linked Mental Retardation 29

Syndromic X-Linked Mental Retardation Wu Type

Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease

Myotonic Disease

Myotonic Disorders

Myotonic Syndrome

Symptomatic Myotonia

Deafness, Autosomal Recessive 109

DFNB109

Autosomal Recessive Nonsyndromic Deafness 109

Autosomal Recessive Deafness 109

Deafness, Autosomal Recessive, 109

Myotonic Dystrophy 2

Myotonic Dystrophy Type 2

Proximal Myotonic Myopathy

Promm

Ricker Syndrome

DM2

Dystrophia Myotonica 2

Myotonic Myopathy, Proximal

Myotonic Disorders

Dystrophia Myotonica Type 2

Proximal Myotonic Dystrophy

Ricker Disease

Myotonic Dystrophy, Type 2

Dystrophy, Myotonic, Type 2

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

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

Spinocerebellar Ataxia 8

Spinocerebellar Ataxia Type 8

SCA8

Ataxia, Spinocerebellar, Type 8

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Congenital Myasthenic Syndrome

Congenital Myasthenia

Congenital Myasthenic Syndromes

Cms

Myasthenic Syndromes, Congenital

Myasthenic Syndromes Congenital

Myasthenic Syndrome, Congenital

Congenital Myasthenic Syndrome Ib

Congenital And Developmental Myasthenia

Developmental Myasthenia

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

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
Felis catus HNRNPH2 VGNC VGNC:67608
Bos taurus HNRNPH2 VGNC VGNC:50192
Rattus norvegicus HNRNPH2 RGD RGD:1549784
Canis familiaris HNRNPH2 VGNC VGNC:41731
Mus musculus HNRNPH2 MGD MGI:1201779
Macaca mulatta HNRNPH2 VGNC VGNC:110582