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    HNRNPH2 heterogeneous nuclear ribonucleoprotein H2 [ Homo sapiens (human) ]

    Gene ID: 3188, updated on 7-Apr-2024

    Summary

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    Official Symbol
    HNRNPH2provided by HGNC
    Official Full Name
    heterogeneous nuclear ribonucleoprotein H2provided by HGNC
    Primary source
    HGNC:HGNC:5042
    See related
    Ensembl:ENSG00000126945 MIM:300610; AllianceGenome:HGNC:5042
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FTP3; MRXSB; NRPH2; HNRPH'; HNRPH2; hnRNPH'
    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]
    Expression
    Ubiquitous expression in brain (RPKM 50.7), adrenal (RPKM 42.7) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    Xq22.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (101408222..101414133)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (99852337..99858248)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (100663210..100669121)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RPL36A-HNRNPH2 readthrough Neighboring gene ribosomal protein L36a Neighboring gene galactosidase alpha Neighboring gene armadillo repeat containing X-linked 4 Neighboring gene peptidylprolyl isomerase A pseudogene 90 Neighboring gene PRKCI pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder. Gonzalez JN, et al. Genes (Basel), 2023 May 26. PMID 37372334, Free PMC Article
    2. HNRNPH2-Related Neurodevelopmental Disorder. Adam MP, et al. , 1993. PMID 36108116
    3. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males. Kreienkamp HJ, et al. Hum Genet, 2022 Feb. PMID 34907471, Free PMC Article
    4. Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2. Diez J, et al. Cell Physiol Biochem, 2021 May 19. PMID 34014051
    5. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2. Somashekar PH, et al. Am J Med Genet A, 2020 Jan. PMID 31670473, Free PMC Article

    See all (163) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.
      Title: The RNA-binding proteins hnRNP H and F regulate splicing of a MYC-dependent HRAS exon in prostate cancer cells.
    2. Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
      Title: Rett-like Phenotypes in HNRNPH2-Related Neurodevelopmental Disorder.
    3. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
      Title: Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
    4. Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.
      Title: Development and Pilot Screen of Novel High Content Assay for Down Regulators of Expression of Heterogenous Nuclear Ribonuclear Protein H2.
    5. Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
      Title: Bain type of X-linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2.
    6. Results from a study on gene expression variability markers in early-stage human embryos shows that HNRNPH2 is a putative marker for the 3-day, 8-cell embryo stage.
      Title: Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
    7. identification of six females from independent families with a common neurodevelopmental phenotype including developmental delay, intellectual disability, autism, hypotonia, and seizures, all with de novo predicted deleterious variants in the nuclear localization signal of Heterogeneous Nuclear Ribonucleoprotein H2, encoded by HNRNPH2, a gene located on the X chromosome
      Title: Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females.
    8. Data indicate that armadillo repeat protein ARVCF interacts with the splicing factors the splicing factor SRSF1 (SF2/ASF), the RNA helicase p68 (DDX5), and the heterogeneous nuclear ribonucleoprotein hnRNP H2.
      Title: Nuclear ARVCF protein binds splicing factors and contributes to the regulation of alternative splicing.
    9. altered function of hnRNP H1/H2 in tumor cells is a novel determinant of aberrant thymidine phosphorylase splicing thereby resulting in acquired chemoresistance to TP-activated fluoropyrimidine anticancer drugs.
      Title: Heterogeneous nuclear ribonucleoprotein H1/H2-dependent unsplicing of thymidine phosphorylase results in anticancer drug resistance.
    10. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Submit: New GeneRIF Correction See all GeneRIFs (12)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Gag-Pol gag-pol Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Nef nef Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Pr55(Gag) gag Tandem affinity purification and mass spectrometry analysis identify heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), HIV-1 Gag, Gag/Pol, gp120, and Nef incorporated into staufen1 RNP complexes isolated from HIV-1-expressing cells PubMed
    Rev rev HIV-1 Rev interacting protein, heterogeneous nuclear ribonucleoprotein H2 (HNRNPH2), is identified by the in-vitro binding experiments involving cytosolic or nuclear extracts from HeLa cells. The interaction of Rev with HNRNPH2 is increased by RRE PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Readthrough RPL36A-HNRNPH2

    Readthrough gene: RPL36A-HNRNPH2, Included gene: RPL36A

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables RNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of RNA splicing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in postsynaptic density IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of ribonucleoprotein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of ribonucleoprotein complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    heterogeneous nuclear ribonucleoprotein H2
    Names
    FTP-3
    epididymis secretory sperm binding protein
    heterogeneous nuclear ribonucleoprotein H-prime
    heterogeneous nuclear ribonucleoprotein H2 (H')
    hnRNP H'
    hnRNP H2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016327.1 RefSeqGene

      Range
      5020..10931
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001032393.3 → NP_001027565.1  heterogeneous nuclear ribonucleoprotein H2

      See identical proteins and their annotated locations for NP_001027565.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA758785, AL035422, BU167621, U01923
      Consensus CDS
      CCDS14485.1
      UniProtKB/Swiss-Prot
      A1L400, P55795, Q9HHA7
      UniProtKB/TrEMBL
      A0A384MDT2, B4DFK9
      Conserved Domains (4) summary
      pfam08080
      Location:257 → 290
      zf-RNPHF; RNPHF zinc finger
      cd12729
      Location:10 → 88
      RRM1_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins
      cd12731
      Location:103 → 192
      RRM2_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2, hnRNP F and similar proteins
      cd12734
      Location:289 → 364
      RRM3_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 3 (RRM3) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins

    2. NM_019597.5 → NP_062543.1  heterogeneous nuclear ribonucleoprotein H2

      See identical proteins and their annotated locations for NP_062543.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA758785, AL035422, DA686966, U01923
      Consensus CDS
      CCDS14485.1
      UniProtKB/Swiss-Prot
      A1L400, P55795, Q9HHA7
      UniProtKB/TrEMBL
      A0A384MDT2, B4DFK9
      Related
      ENSP00000361927.2, ENST00000316594.6
      Conserved Domains (4) summary
      pfam08080
      Location:257 → 290
      zf-RNPHF; RNPHF zinc finger
      cd12729
      Location:10 → 88
      RRM1_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 1 (RRM1) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins
      cd12731
      Location:103 → 192
      RRM2_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 2 (RRM2) found in heterogeneous nuclear ribonucleoprotein hnRNP H, hnRNP H2, hnRNP F and similar proteins
      cd12734
      Location:289 → 364
      RRM3_hnRNPH_hnRNPH2_hnRNPF; RNA recognition motif 3 (RRM3) found in heterogeneous nuclear ribonucleoprotein hnRNP H , hnRNP H2, hnRNP F and similar proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      101408222..101414133
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      99852337..99858248
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P55795.1 GenPept UniProtKB/Swiss-Prot:P55795

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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