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Aliases for HNRNPH2 Gene

Aliases for HNRNPH2 Gene

  • Heterogeneous Nuclear Ribonucleoprotein H2 2 3 3 5
  • Heterogeneous Nuclear Ribonucleoprotein H2 (H) 2 3
  • HnRNP H2 3 4
  • HnRNP H 3 4
  • HNRPH2 3 4
  • FTP-3 3 4
  • FTP3 3 4
  • Heterogeneous Nuclear Ribonucleoprotein H-Prime 3
  • Heterogeneous Nuclear Ribonucleoprotein H 4
  • HnRNPH 3
  • HNRPH 3
  • MRXSB 3
  • NRPH2 3

External Ids for HNRNPH2 Gene

Previous HGNC Symbols for HNRNPH2 Gene

  • HNRPH2

Previous GeneCards Identifiers for HNRNPH2 Gene

  • GC0XP100549
  • GC0XP100533
  • GC0XP100663
  • GC0XP090469

Summaries for HNRNPH2 Gene

Entrez Gene Summary for HNRNPH2 Gene

  • 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]

GeneCards Summary for HNRNPH2 Gene

HNRNPH2 (Heterogeneous Nuclear Ribonucleoprotein H2) is a Protein Coding gene. Diseases associated with HNRNPH2 include Mental Retardation, X-Linked, Syndromic, Bain Type and Agammaglobulinemia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPH1.

UniProtKB/Swiss-Prot for HNRNPH2 Gene

  • This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).

Gene Wiki entry for HNRNPH2 Gene

Additional gene information for HNRNPH2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPH2 Gene

Genomics for HNRNPH2 Gene

GeneHancer (GH) Regulatory Elements for HNRNPH2 Gene

Promoters and enhancers for HNRNPH2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ101406 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 650.7 +0.6 594 5 HDGF PKNOX1 CLOCK SMAD1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 GLA HNRNPH2 PPIAP90 RPL36A ARMCX4 ARMCX1 ENSG00000261101 RPL36A-HNRNPH2
GH0XJ101414 Enhancer 0.9 Ensembl ENCODE 0.4 +7.5 7546 1.8 CTCF ZNF654 ZNF680 JUNB TRIM22 REST ATF2 RAD21 ZNF664 ZFHX2 GLA ARMCX4 GC0XM101414 HNRNPH2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around HNRNPH2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the HNRNPH2 gene promoter:
  • STAT3
  • CREB
  • p53
  • deltaCREB
  • HOXA9
  • IRF-2
  • GATA-2
  • C/EBPbeta
  • HOXA9B

Genomic Locations for HNRNPH2 Gene

Genomic Locations for HNRNPH2 Gene
6,008 bases
Plus strand
6,008 bases
Plus strand

Genomic View for HNRNPH2 Gene

Genes around HNRNPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HNRNPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HNRNPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HNRNPH2 Gene

Proteins for HNRNPH2 Gene

  • Protein details for HNRNPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Heterogeneous nuclear ribonucleoprotein H2
    Protein Accession:
    Secondary Accessions:
    • A1L400
    • Q9HHA7

    Protein attributes for HNRNPH2 Gene

    449 amino acids
    Molecular mass:
    49264 Da
    Quaternary structure:
    • Interacts with TXNL4/DIM1.

    Three dimensional structures from OCA and Proteopedia for HNRNPH2 Gene

neXtProt entry for HNRNPH2 Gene

Post-translational modifications for HNRNPH2 Gene

  • Ubiquitination at Lys98 and isoforms=35
  • Modification sites at PhosphoSitePlus

Other Protein References for HNRNPH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for HNRNPH2 Gene

Domains & Families for HNRNPH2 Gene

Gene Families for HNRNPH2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for HNRNPH2 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with HNRNPH2: view

No data available for UniProtKB/Swiss-Prot for HNRNPH2 Gene

Function for HNRNPH2 Gene

Molecular function for HNRNPH2 Gene

UniProtKB/Swiss-Prot Function:
This protein is a component of the heterogeneous nuclear ribonucleoprotein (hnRNP) complexes which provide the substrate for the processing events that pre-mRNAs undergo before becoming functional, translatable mRNAs in the cytoplasm. Binds poly(RG).

Gene Ontology (GO) - Molecular Function for HNRNPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003676 nucleic acid binding IEA --
GO:0003723 RNA binding HDA,TAS 22658674
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with HNRNPH2: view
genes like me logo Genes that share phenotypes with HNRNPH2: view

Human Phenotype Ontology for HNRNPH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for HNRNPH2 Gene

miRTarBase miRNAs that target HNRNPH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPH2

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPH2 Gene

Localization for HNRNPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HNRNPH2 Gene

Nucleus, nucleoplasm.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HNRNPH2 gene
Compartment Confidence
nucleus 5
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for HNRNPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS 7499401
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA 19946888
genes like me logo Genes that share ontologies with HNRNPH2: view

Pathways & Interactions for HNRNPH2 Gene

genes like me logo Genes that share pathways with HNRNPH2: view

Pathways by source for HNRNPH2 Gene

1 BioSystems pathway for HNRNPH2 Gene

Gene Ontology (GO) - Biological Process for HNRNPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0016070 RNA metabolic process TAS --
genes like me logo Genes that share ontologies with HNRNPH2: view

No data available for SIGNOR curated interactions for HNRNPH2 Gene

Drugs & Compounds for HNRNPH2 Gene

No Compound Related Data Available

Transcripts for HNRNPH2 Gene

mRNA/cDNA for HNRNPH2 Gene

(2) REFSEQ mRNAs :
(398) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for HNRNPH2

Alternative Splicing Database (ASD) splice patterns (SP) for HNRNPH2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c
SP3: -

Relevant External Links for HNRNPH2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for HNRNPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HNRNPH2 Gene

Protein differential expression in normal tissues from HIPED for HNRNPH2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNRNPH2 Gene

Protein tissue co-expression partners for HNRNPH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of HNRNPH2 Gene:


mRNA Expression by UniProt/SwissProt for HNRNPH2 Gene:

Tissue specificity: Expressed ubiquitously.

Evidence on tissue expression from TISSUES for HNRNPH2 Gene

  • Nervous system(4.6)
  • Spleen(2.1)
  • Blood(2)
  • Heart(2)
  • Kidney(2)
  • Liver(2)
genes like me logo Genes that share expression patterns with HNRNPH2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPH2 Gene

Orthologs for HNRNPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HNRNPH2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia HNRPH2 34
  • 100 (a)
  • 95.1 (n)
(Pan troglodytes)
Mammalia HNRNPH2 34 33
  • 100 (n)
(Canis familiaris)
Mammalia HNRNPH2 34 33
  • 95.55 (n)
(Mus musculus)
Mammalia Hnrnph2 16 34 33
  • 93.69 (n)
(Rattus norvegicus)
Mammalia Hnrnph2 33
  • 93.39 (n)
(Monodelphis domestica)
Mammalia HNRNPH2 34
  • 67 (a)
(Gallus gallus)
Aves HNRNPH1 34
  • 73 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 83 (a)
(Danio rerio)
Actinopterygii hnrnph1 34
  • 78 (a)
hnrnph1l 34
  • 77 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
Species where no ortholog for HNRNPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HNRNPH2 Gene

Gene Tree for HNRNPH2 (if available)
Gene Tree for HNRNPH2 (if available)
Evolutionary constrained regions (ECRs) for HNRNPH2: view image

Paralogs for HNRNPH2 Gene

Paralogs for HNRNPH2 Gene

(5) SIMAP similar genes for HNRNPH2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with HNRNPH2: view

Variants for HNRNPH2 Gene

Sequence variations from dbSNP and Humsavar for HNRNPH2 Gene

SNP ID Clin Chr 0X pos Variation AA Info Type
rs104894829 pathogenic, Fabry disease 101,407,773(+) C/T upstream_transcript_variant
rs104894831 pathogenic, Fabry disease 101,407,786(+) G/A upstream_transcript_variant
rs104894835 pathogenic, Fabry disease 101,407,803(+) T/C upstream_transcript_variant
rs104894836 pathogenic, Fabry disease 101,407,738(+) A/C upstream_transcript_variant
rs104894847 pathogenic, Fabry disease, cardiac variant 101,407,846(+) C/G upstream_transcript_variant

Variation tolerance for HNRNPH2 Gene

Residual Variation Intolerance Score: 22% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.19; 4.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for HNRNPH2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for HNRNPH2 Gene

Disorders for HNRNPH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for HNRNPH2 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, x-linked, syndromic, bain type
  • mrxsb
  • hypogammaglobulinemia
- elite association - COSMIC cancer census association via MalaCards


  • Mental retardation, X-linked, syndromic, Bain type (MRXSB) [MIM:300986]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSB patients manifest developmental delay, intellectual disability, autism, hypotonia, seizures, and dysmorphic facial features. Only females are affected. {ECO:0000269 PubMed:27545675}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for HNRNPH2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with HNRNPH2: view

No data available for Genatlas for HNRNPH2 Gene

Publications for HNRNPH2 Gene

  1. Heterogeneous nuclear ribonucleoproteins H, H', and F are members of a ubiquitously expressed subfamily of related but distinct proteins encoded by genes mapping to different chromosomes. (PMID: 7499401) Honoré B … Celis JE (The Journal of biological chemistry 1995) 2 3 4 58
  2. Variants in HNRNPH2 on the X Chromosome Are Associated with a Neurodevelopmental Disorder in Females. (PMID: 27545675) Bain JM … Chung WK (American journal of human genetics 2016) 3 4 58
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  4. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross MT … Bentley DR (Nature 2005) 3 4 58
  5. Evidence that dim1 associates with proteins involved in pre-mRNA splicing, and delineation of residues essential for dim1 interactions with hnRNP F and Npw38/PQBP-1. (PMID: 11054566) Zhang Y … Golemis EA (Gene 2000) 3 4 58

Products for HNRNPH2 Gene

Sources for HNRNPH2 Gene

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