HNRPH2

HNRNPH2
Identifiers
Aliases	HNRNPH2, FTP3, HNRPH', HNRPH2, hnRNPH', heterogeneous nuclear ribonucleoprotein H2 (H'), heterogeneous nuclear ribonucleoprotein H2, MRXSB, NRPH2
External IDs	OMIM: 300610; MGI: 1201779; GeneCards: HNRNPH2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WEZ, 1WG5
Gene location (Human) Chr. X chromosome (human) Band Xq22.1 Start 101,408,222 bp End 101,414,133 bp
Gene location (Mouse) Chr. X chromosome (mouse) Band X E3|X 56.2 cM Start 133,501,928 bp End 133,507,809 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Epithelium of choroid plexus islet of Langerhans seminal vesicula monocyte Skeletal muscle tissue of rectus abdominis palpebral conjunctiva prefrontal cortex ventricular zone human penis endometrium Top expressed in ventricular zone neural layer of retina epiblast dentate gyrus of hippocampal formation granule cell ganglionic eminence neural tube hippocampus proper lens olfactory bulb primary visual cortex More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding nucleic acid binding RNA binding Cellular component membrane nucleus nucleoplasm cytosol postsynaptic density ribonucleoprotein complex Biological process mRNA splicing, via spliceosome RNA metabolic process Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 3188 56258 Ensembl ENSG00000126945 ENSMUSG00000045427 UniProt P55795 P70333 RefSeq (mRNA) NM_019597 NM_001032393 NM_019868 NM_001313716 NM_001313717 RefSeq (protein) NP_001027565 NP_062543 NP_001300645 NP_001300646 NP_063921 Location (UCSC) Chr X: 101.41 – 101.41 Mb Chr X: 133.5 – 133.51 Mb PubMed search
Wikidata
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Heterogeneous nuclear ribonucleoprotein H2 is a protein that in humans is encoded by the HNRNPH2 gene.

Gene

Alternative splicing results in multiple transcript variants encoding the same protein.

Structure

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.

Function

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.

Clinical significance

This gene is thought to be involved in Fabry disease and X-linked agammaglobulinemia phenotype.

Mutations in this gene causes HNRNPH2-related disorder.

Further reading

• Vorechovský I, Vetrie D, Holland J, Bentley DR, Thomas K, Zhou JN, et al. (June 1994). "Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22". Genomics. 21 (3): 517–524. doi:10.1006/geno.1994.1310. PMID 7959728.
• Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, et al. (January 1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. 361 (6409): 226–233. Bibcode:1993Natur.361..226V. doi:10.1038/361226a0. PMID 8380905. S2CID 42737818.
• Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, et al. (January 1993). "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279–290. doi:10.1016/0092-8674(93)90667-F. PMID 8425221. S2CID 32339052.
• Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW (April 1997). "Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains". Genome Research. 7 (4): 315–329. doi:10.1101/gr.7.4.315. PMID 9110171.
• Honoré B, Vorum H, Baandrup U (1999). "hnRNPs H, H' and F behave differently with respect to posttranslational cleavage and subcellular localization". FEBS Letters. 456 (2): 274–280. Bibcode:1999FEBSL.456..274H. doi:10.1016/S0014-5793(99)00911-4. PMID 10456323.
• Zhang Y, Lindblom T, Chang A, Sudol M, Sluder AE, Golemis EA (October 2000). "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". Gene. 257 (1): 33–43. doi:10.1016/S0378-1119(00)00372-3. PMID 11054566.
• Caputi M, Zahler AM (2001). "Determination of the RNA binding specificity of the heterogeneous nuclear ribonucleoprotein (hnRNP) H/H'/F/2H9 family". The Journal of Biological Chemistry. 276 (47): 43850–43859. doi:10.1074/jbc.M102861200. PMID 11571276.
• Shu H, Chen S, Bi Q, Mumby M, Brekken DL (March 2004). "Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line". Molecular & Cellular Proteomics. 3 (3): 279–286. doi:10.1074/mcp.D300003-MCP200. PMID 14729942.
• Bouwmeester T, Bauch A, Ruffner H, Angrand PO, Bergamini G, Croughton K, et al. (February 2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nature Cell Biology. 6 (2): 97–105. doi:10.1038/ncb1086. PMID 14743216. S2CID 11683986.
• Honoré B, Baandrup U, Vorum H (2004). "Heterogeneous nuclear ribonucleoproteins F and H/H' show differential expression in normal and selected cancer tissues". Experimental Cell Research. 294 (1): 199–209. doi:10.1016/j.yexcr.2003.11.011. PMID 14980514.
• Alkan SA, Martincic K, Milcarek C (2006). "The hnRNPs F and H2 bind to similar sequences to influence gene expression". The Biochemical Journal. 393 (Pt 1): 361–371. doi:10.1042/BJ20050538. PMC 1383695. PMID 16171461.
• Olsen JV, Blagoev B, Gnad F, Macek B, Kumar C, Mortensen P, et al. (November 2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–648. doi:10.1016/j.cell.2006.09.026. PMID 17081983.