HNRNPH2 - heterogeneous nuclear ribonucleoprotein H2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 3188

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

(14 - 84)

(113 - 182)

zf-RNPHF

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

(291 - 358)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 449 a.a.
Protein Preferred Names Protein Names

heterogeneous nuclear ribonucleoprotein H2

  • FTP-3

HNRNPH2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4 32296183
Intra
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4 25416956
Intra
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4 32296183
Intra
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4 32296183
Intra
HNRNPH2 P55795 TEKT1 Homo sapiens Q969V4 25416956
Intra
HNRNPH2 P55795 CCNK Homo sapiens O75909-2 32296183
Intra
HNRNPH2 P55795 CCNK Homo sapiens O75909-2 32296183
Intra
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6 25416956
Intra
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH2 P55795 MSI2 Homo sapiens Q96DH6 32296183
Intra
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809 28514442
Intra
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809 26496610
Intra
HNRNPH2 P55795 PLOD1 Homo sapiens Q02809 33961781
Intra
HNRNPH2 P55795 HSF2BP Homo sapiens O75031 32296183
Intra
HNRNPH2 P55795 HSF2BP Homo sapiens O75031 32296183
Intra
HNRNPH2 P55795 MSI1 Homo sapiens O43347 32296183
Intra
HNRNPH2 P55795 MSI1 Homo sapiens O43347 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others HNRNPH2 NCBI