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)
End	101,414,133 bp
Gene location (Mouse)
Chr.	X chromosome (mouse)
End	133,507,809 bp
RNA expression pattern
	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
	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
	3188
	56258
	ENSG00000126945
	ENSMUSG00000045427
	P55795
	P70333
	NM_019597; NM_001032393
	NM_019868; NM_001313716; NM_001313717
	NP_001027565; NP_062543
	NP_001300645; NP_001300646; NP_063921
	Wikidata
View/Edit Human	View/Edit Mouse

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.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000126945 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000045427 – Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Honore B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P, et al. (January 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". The Journal of Biological Chemistry. 270 (48): 28780–28789. doi:10.1074/jbc.270.48.28780. PMID 7499401.
1 2 3 4 "Entrez Gene: HNRPH2 heterogeneous nuclear ribonucleoprotein H2 (H')".
↑ Madhok S, Bain J (1993). "HNRNPH2-Related Neurodevelopmental Disorder". In Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.). GeneReviews^®. Seattle (WA): University of Washington, Seattle. PMID 36108116. Retrieved 2025-06-15.

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.

This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by adding missing information.

[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000126945 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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.

[Honore_1996-5] Honore B, Rasmussen HH, Vorum H, Dejgaard K, Liu X, Gromov P, et al. (January 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". The Journal of Biological Chemistry. 270 (48): 28780–28789. doi:10.1074/jbc.270.48.28780. PMID 7499401.

[entrez-6] 1 2 3 4 "Entrez Gene: HNRPH2 heterogeneous nuclear ribonucleoprotein H2 (H')".

[7] Madhok S, Bain J (1993). "HNRNPH2-Related Neurodevelopmental Disorder". In Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.). GeneReviews^®. Seattle (WA): University of Washington, Seattle. PMID 36108116. Retrieved 2025-06-15.