HNRPH2

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

HNRNPH2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHNRNPH2, FTP3, HNRPH', HNRPH2, hnRNPH', heterogeneous nuclear ribonucleoprotein H2 (H'), heterogeneous nuclear ribonucleoprotein H2, MRXSB, NRPH2
External IDsOMIM: 300610 MGI: 1201779 HomoloGene: 23165 GeneCards: HNRNPH2
Gene location (Human)
Chr.X chromosome (human)[1]
BandXq22.1Start101,408,222 bp[1]
End101,414,133 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
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 MbChr X: 134.6 – 134.61 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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]

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')".

Further reading


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