HNRPH2

HNRNPH2
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1WEZ, 1WG5
Identifiers
Aliases	HNRNPH2 , FTP3, HNRPH', HNRPH2, hnRNPH', heterogeneous nuclear ribonucleoprotein H2 (H'), heterogeneous nuclear ribonucleoprotein H2, MRXSB, NRPH2
External IDs	OMIM: 300610; MGI: 1201779; HomoloGene: 23165; GeneCards: HNRNPH2; OMA:HNRNPH2 - orthologs
Gene location (Human) Chr. X chromosome (human) [1] Band Xq22.1 Start 101,408,222 bp [1] End 101,414,133 bp [1]
Gene location (Mouse) Chr. X chromosome (mouse) [2] Band X E3|X 56.2 cM Start 133,501,928 bp [2] End 133,507,809 bp [2]
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 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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Heterogeneous nuclear ribonucleoprotein H2 is a protein that in humans is encoded by the HNRNPH2 gene. ^{[5] [6]}

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 Fabry disease and X-linked agammaglobulinemia phenotype. Alternative splicing results in multiple transcript variants encoding the same protein. ^[6]

Mutations in this gene causes HNRNPH2-related disorder. ^[7]

References

1. GRCh38: Ensembl release 89: ENSG00000126945 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000045427 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Honore B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P, Madsen P, Gesser B, Tommerup N, Celis JE (Jan 1996). "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". J Biol Chem. 270 (48): 28780–9. doi: 10.1074/jbc.270.48.28780 . PMID   7499401.
6. "Entrez Gene: HNRPH2 heterogeneous nuclear ribonucleoprotein H2 (H')".
7. Madhok, Sehajvir; Bain, Jennifer (1993), Adam, Margaret P.; Feldman, Jerry; Mirzaa, Ghayda M.; Pagon, Roberta A. (eds.), "HNRNPH2-Related Neurodevelopmental Disorder", GeneReviews®, Seattle (WA): University of Washington, Seattle, PMID   36108116 , retrieved 2025-06-15

Further reading

• Vorechovský I, Vetrie D, Holland J, et al. (1994). "Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22". Genomics. 21 (3): 517–24. doi:10.1006/geno.1994.1310. PMID   7959728.
• Vetrie D, Vorechovský I, Sideras P, et al. (1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. 361 (6409): 226–33. Bibcode:1993Natur.361..226V. doi:10.1038/361226a0. PMID   8380905. S2CID   42737818.
• Tsukada S, Saffran DC, Rawlings DJ, et al. (1993). "Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia". Cell. 72 (2): 279–90. doi:10.1016/0092-8674(93)90667-F. PMID   8425221. S2CID   32339052.
• Oeltjen JC, Malley TM, Muzny DM, et al. (1997). "Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains". Genome Res. 7 (4): 315–29. 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 Lett. 456 (2): 274–80. doi: 10.1016/S0014-5793(99)00911-4 . PMID   10456323.
• Zhang Y, Lindblom T, Chang A, et al. (2001). "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". J. Biol. Chem. 276 (47): 43850–9. doi: 10.1074/jbc.M102861200 . PMID   11571276.
• Shu H, Chen S, Bi Q, et al. (2004). "Identification of phosphoproteins and their phosphorylation sites in the WEHI-231 B lymphoma cell line". Mol. Cell. Proteomics. 3 (3): 279–86. doi: 10.1074/mcp.D300003-MCP200 . PMID   14729942.
• Bouwmeester T, Bauch A, Ruffner H, et al. (2004). "A physical and functional map of the human TNF-alpha/NF-kappa B signal transduction pathway". Nat. Cell Biol. 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". Exp. Cell Res. 294 (1): 199–209. doi:10.1016/j.yexcr.2003.11.011. PMID   14980514.
• Ross MT, Grafham DV, Coffey AJ, et al. (2005). "The DNA sequence of the human X chromosome". Nature. 434 (7031): 325–37. Bibcode:2005Natur.434..325R. doi:10.1038/nature03440. PMC   2665286 . PMID   15772651.
• Alkan SA, Martincic K, Milcarek C (2006). "The hnRNPs F and H2 bind to similar sequences to influence gene expression". Biochem. J. 393 (Pt 1): 361–71. doi:10.1042/BJ20050538. PMC   1383695 . PMID   16171461.
• Olsen JV, Blagoev B, Gnad F, et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi: 10.1016/j.cell.2006.09.026 . PMID   17081983.