Human Gene HNRNPA2B1 (uc003sxr.4) Description and Page Index
  Description: Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.
RefSeq Summary (NM_031243): 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. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr7:26,229,556-26,240,413 Size: 10,858 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr7:26,232,136-26,240,197 Size: 8,062 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated: 2013-06-15

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:26,229,556-26,240,413)mRNA (may differ from genome)Protein (353 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedReactomeStanford SOURCETreefamUniProtKB
Wikipedia

-  Comments and Description Text from UniProtKB
  ID: ROA2_HUMAN
DESCRIPTION: RecName: Full=Heterogeneous nuclear ribonucleoproteins A2/B1; Short=hnRNP A2/B1;
FUNCTION: Involved with pre-mRNA processing. Forms complexes (ribonucleosomes) with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus.
SUBUNIT: Identified in the spliceosome C complex. Identified in a mRNP granule complex, at least composed of ACTB, ACTN4, DHX9, ERG, HNRNPA1, HNRNPA2B1, HNRNPAB, HNRNPD, HNRNPL, HNRNPR, HNRNPU, HSPA1, HSPA8, IGF2BP1, ILF2, ILF3, NCBP1, NCL, PABPC1, PABPC4, PABPN1, RPLP0, RPS3, RPS3A, RPS4X, RPS8, RPS9, SYNCRIP, TROVE2, YBX1 and untranslated mRNAs. Interacts with IGF2BP1.
SUBCELLULAR LOCATION: Nucleus, nucleoplasm. Cytoplasm. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs. Component of ribonucleosomes. Predominantly nucleoplasmic, however isoform A2 is also found in the cytoplasm of cells in some tissues. Not found in the nucleolus.
SIMILARITY: Contains 2 RRM (RNA recognition motif) domains.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): HNRNPA2B1
CDC HuGE Published Literature: HNRNPA2B1

-  MalaCards Disease Associations
  MalaCards Gene Search: HNRNPA2B1
Diseases sorted by gene-association score: inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2* (1381), oculopharyngeal muscular dystrophy (6), dementia (5), spinocerebellar ataxia 31 (4), myopathy (3), lung cancer (3), dementia, frontotemporal (1), amyotrophic lateral sclerosis 1 (0)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D015127 9,10-Dimethyl-1,2-benzanthracene
  • D003300 Copper
  • D004958 Estradiol
  • C517041 (4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)
  • D015058 1-Naphthylisothiocyanate
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C024709 2,6-di-tert-butyl-4-methylene-2,5-cyclohexadienone
  • C009505 4,4'-diaminodiphenylmethane
  • C075773 4-phenylbutyric acid
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 344.83 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 9651.09 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.60216-0.392 Picture PostScript Text
3' UTR -599.392424-0.247 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help

1X4B
- NMR MuPIT


ModBase Predicted Comparative 3D Structure on P22626
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
 Gene Details    
 Gene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003730 mRNA 3'-UTR binding
GO:0005515 protein binding
GO:0035198 miRNA binding
GO:0042802 identical protein binding
GO:0043047 single-stranded telomeric DNA binding
GO:0097157 pre-mRNA intronic binding
GO:0098505 G-rich strand telomeric DNA binding
GO:1990247 N6-methyladenosine-containing RNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000398 mRNA splicing, via spliceosome
GO:0006397 mRNA processing
GO:0006406 mRNA export from nucleus
GO:0008380 RNA splicing
GO:0016070 RNA metabolic process
GO:0031053 primary miRNA processing
GO:0035722 interleukin-12-mediated signaling pathway
GO:0044806 G-quadruplex DNA unwinding
GO:0048025 negative regulation of mRNA splicing, via spliceosome
GO:0050658 RNA transport
GO:0051028 mRNA transport
GO:1904358 positive regulation of telomere maintenance via telomere lengthening
GO:1905663 positive regulation of telomerase RNA reverse transcriptase activity
GO:1990428 miRNA transport

Cellular Component:
GO:0000781 chromosome, telomeric region
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0015030 Cajal body
GO:0016020 membrane
GO:0016363 nuclear matrix
GO:0070062 extracellular exosome
GO:0071013 catalytic step 2 spliceosome
GO:1990904 ribonucleoprotein complex


-  Descriptions from all associated GenBank mRNAs
  JD026190 - Sequence 7214 from Patent EP1572962.
JD032472 - Sequence 13496 from Patent EP1572962.
BX538099 - Homo sapiens mRNA; cDNA DKFZp779B0244 (from clone DKFZp779B0244).
BC045724 - Homo sapiens cDNA clone IMAGE:4812021.
AK026373 - Homo sapiens cDNA: FLJ22720 fis, clone HSI14320.
BX537494 - Homo sapiens mRNA; cDNA DKFZp686G0349 (from clone DKFZp686G0349).
JB367475 - Sequence 89 from Patent WO2012038956.
BC000506 - Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1, mRNA (cDNA clone MGC:8493 IMAGE:2822109), complete cds.
M29064 - Human hnRNP B1 protein mRNA.
M29065 - Human hnRNP A2 protein mRNA.
BX641084 - Homo sapiens mRNA; cDNA DKFZp686K0732 (from clone DKFZp686K0732).
AK129839 - Homo sapiens cDNA FLJ26329 fis, clone HRT02026, highly similar to Heterogeneous nuclear ribonucleoproteins A2/B1.
JD093348 - Sequence 74372 from Patent EP1572962.
AK289429 - Homo sapiens cDNA FLJ75945 complete cds, highly similar to Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRPA2B1), transcript variant B1, mRNA.
GQ900936 - Homo sapiens clone HEL-T-48 epididymis secretory sperm binding protein mRNA, complete cds.
JD207782 - Sequence 188806 from Patent EP1572962.
JD267263 - Sequence 248287 from Patent EP1572962.
JD039482 - Sequence 20506 from Patent EP1572962.
JD207069 - Sequence 188093 from Patent EP1572962.
JD509112 - Sequence 490136 from Patent EP1572962.
JD225918 - Sequence 206942 from Patent EP1572962.
JD276524 - Sequence 257548 from Patent EP1572962.
KJ901493 - Synthetic construct Homo sapiens clone ccsbBroadEn_10887 HNRNPA2B1 gene, encodes complete protein.
JD019560 - Sequence 584 from Patent EP1572962.
JD180619 - Sequence 161643 from Patent EP1572962.
MF125246 - Homo sapiens bio-material 6-08PB2422 case HNRNPA2B1/MYC fusion mRNA, partial sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P22626 (Reactome details) participates in the following event(s):

R-HSA-72103 Formation of pre-mRNPs
R-HSA-72107 Formation of the Spliceosomal E complex
R-HSA-72124 Formation of the Spliceosomal A Complex
R-HSA-72127 Formation of the Spliceosomal B Complex
R-HSA-72130 Formation of an intermediate Spliceosomal C (Bact) complex
R-HSA-72143 Lariat Formation and 5'-Splice Site Cleavage
R-HSA-72139 Formation of the active Spliceosomal C (B*) complex
R-HSA-156661 Formation of Exon Junction Complex
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-8953854 Metabolism of RNA
R-HSA-9020591 Interleukin-12 signaling
R-HSA-72172 mRNA Splicing
R-HSA-447115 Interleukin-12 family signaling
R-HSA-449147 Signaling by Interleukins
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8K064, HNRPA2B1, NM_031243, NP_112533, P22626, P22627, Q9UC98, Q9UDJ2, ROA2_HUMAN
UCSC ID: uc003sxr.4
RefSeq Accession: NM_031243
Protein: P22626 (aka ROA2_HUMAN)
CCDS: CCDS5397.1, CCDS43557.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene HNRNPA2B1:
ibmpfd (Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_031243.2
exon count: 12CDS single in 3' UTR: no RNA size: 3702
ORF size: 1062CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2324.00frame shift in genome: no % Coverage: 100.00
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: yes # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.