HNRNPH2 - heterogeneous nuclear ribonucleoprotein H2 Gene

Homo sapiens

Also known as FTP3; MRXSB; NRPH2; HNRPH'; HNRPH2; hnRNPH'

Gene ID: 3188 | Gene type: protein coding

About 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.

Summary

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 Products(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 Protein Structure

zf-RNPHF

0
100
200
300
400
449 a.a.

Protein Preferred Names

Protein Names

heterogeneous nuclear ribonucleoprotein H2

FTP-3

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06271	HNRNPH2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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

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