HNRNPA2B1

HNRNPA2B1
Identifiers
AliasesHNRNPA2B1, HNRNPA2, HNRNPB1, HNRPA2, HNRPA2B1, HNRPB1, IBMPFD2, RNPA2, SNRPB1, heterogeneous nuclear ribonucleoprotein A2/B1
External IDsOMIM: 600124; MGI: 104819; GeneCards: HNRNPA2B1
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

3181

53379

Ensembl

ENSG00000122566

ENSMUSG00000004980

UniProt

P22626

O88569

RefSeq (mRNA)

NM_002137
NM_031243

NM_016806
NM_182650

RefSeq (protein)

NP_002128
NP_112533

NP_058086
NP_872591
NP_001361674

Location (UCSC)Chr 7: 26.17 – 26.2 MbChr 6: 51.46 – 51.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heterogeneous nuclear ribonucleoproteins A2/B1 is a protein that in humans is encoded by the HNRNPA2B1 gene.[5]

Structure

HNRNPA2B1 gene contains 12 exons, including a B1 protein specific 36-nucleotide mini-exon. The entire length of intron/exon organization of HNRNPA2B1 is identical to that of the HNRNPA1 gene which indicates a common origin by gene duplication.[6]

Function

This gene belongs to the A/B 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 two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms.[7] HnRNPA2B1 is an autoantigen in autoimmune diseases such as rheumatoid arthritis, systemic lupus erythematosus and mixed connective tissue disease. When referred to as an autoantigen, hnRNPA2B1 is also known as RA33.

The HNRNPA2 and HNRNPB1 proteins are involved in packaging nascent mRNA, in alternative splicing, and in cytoplasmic RNA trafficking, translation, and stabilization. HNRNPA2 and HNRNPB1 also appear to function in telomere maintenance, cell proliferation and differentiation, and glucose transport.[8][6]

Function of HNRNPA2B1 gene can be effectively examined by siRNA knockdown based on an independent validation.[9]

Interactions

HNRPA2B1 has been shown to interact with casein kinase 2, alpha 1.[10]

Role in diseases

The mutation p.D290V/302V in hnRNPA2B1 is implicated in dementia, myopathy, Paget's disease of bone, and ALS.[11] Mutations in hnRNPA2B1 and hnRNPA1 cause of amyotrophic lateral sclerosis and multisystem proteinopathy.[12] hnRNPA2/B1 is found to activate cyclooxygenase-2 and promote tumor growth in human lung cancers.[13]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000122566 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004980 – 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. ↑ Biamonti G, Ruggiu M, Saccone S, Della Valle G, Riva S (August 1994). "Two homologous genes, originated by duplication, encode the human hnRNP proteins A2 and A1". Nucleic Acids Research. 22 (11): 1996–2002. doi:10.1093/nar/22.11.1996. PMC 308112. PMID 8029005.
  6. 1 2 "Error 403".
  7. ↑ "Entrez Gene: HNRPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1".
  8. ↑ "HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 [Homo sapiens (human)] – Gene – NCBI".
  9. ↑ Munkácsy G, Sztupinszki Z, Herman P, Bán B, Pénzváltó Z, Szarvas N, et al. (September 2016). "Validation of RNAi Silencing Efficiency Using Gene Array Data shows 18.5% Failure Rate across 429 Independent Experiments". Molecular Therapy. Nucleic Acids. 5 (9) e366. doi:10.1038/mtna.2016.66. PMC 5056990. PMID 27673562.
  10. ↑ Pancetti F, Bosser R, Krehan A, Pyerin W, Itarte E, Bachs O (June 1999). "Heterogeneous nuclear ribonucleoprotein A2 interacts with protein kinase CK2". Biochemical and Biophysical Research Communications. 260 (1): 17–22. doi:10.1006/bbrc.1999.0849. PMID 10381337.
  11. ↑ Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, et al. (2013). "Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS". Nature. 495 (7442): 467–473. Bibcode:2013Natur.495..467K. doi:10.1038/nature11922. PMC 3756911. PMID 23455423.
  12. ↑ Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, et al.Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 causemultisystem proteinopathy and ALS. Nature 2013;495:467–73. Available from: https://www.researchgate.net/publication/235770144_Mutations_in_prion-like_domains_in_hnRNPA2B1_and_hnRNPA1_cause_multisystem_proteinopathy_and_ALS [Retrieved 28 Mar 2017].
  13. ↑ Xuan Y, Wang J, Ban L, Lu JJ, Yi C, Li Z, et al. (April 2016). "hnRNPA2/B1 activates cyclooxygenase-2 and promotes tumor growth in human lung cancers". Molecular Oncology. 10 (4): 610–624. doi:10.1016/j.molonc.2015.11.010. PMC 5423139. PMID 26774881.

Further reading

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