Aliases for HNRNPA2B1 Gene
Aliases for HNRNPA2B1 Gene
External Ids for HNRNPA2B1 Gene
- HGNC: 5033
- Entrez Gene: 3181
- Ensembl: ENSG00000122566
- OMIM: 600124
- UniProtKB: P22626
Previous HGNC Symbols for HNRNPA2B1 Gene
- HNRPA2B1
Previous GeneCards Identifiers for HNRNPA2B1 Gene
- GC07M026197
Summaries for HNRNPA2B1 Gene
-
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]
GeneCards Summary for HNRNPA2B1 Gene
HNRNPA2B1 (Heterogeneous Nuclear Ribonucleoprotein A2/B1) is a Protein Coding gene. Diseases associated with HNRNPA2B1 include Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 and Frontotemporal Dementia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPA3.
UniProtKB/Swiss-Prot for HNRNPA2B1 Gene
-
Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear reader of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).
-
(Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport.
Additional gene information for HNRNPA2B1 Gene
- Monarch Initiative
- Search for HNRNPA2B1 at DataMed
- Search for HNRNPA2B1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HNRNPA2B1 Gene
Genomics for HNRNPA2B1 Gene
GeneHancer (GH) Regulatory Elements for HNRNPA2B1 Gene
Promoters and enhancers for HNRNPA2B1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around HNRNPA2B1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the HNRNPA2B1 gene promoter:
-
- p53
- STAT1
- ARP-1
- GATA-1
- GATA-2
- GATA-3
- STAT1alpha
Genomic Locations for HNRNPA2B1 Gene
Genomic Locations for HNRNPA2B1 Gene
- chr7:26,189,927-26,201,529
- (GRCh38/hg38)
- Size:
- 11,603 bases
- Orientation:
- Minus strand
- chr7:26,229,547-26,241,149
- (GRCh37/hg19)
- Size:
- 11,603 bases
- Orientation:
- Minus strand
Genomic View for HNRNPA2B1 Gene
Genes around HNRNPA2B1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 7p15.2 by Entrez Gene
- 7p15.2 by HGNC
- 7p15.2 by Ensembl
HNRNPA2B1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for HNRNPA2B1 Gene
Proteins for HNRNPA2B1 Gene
-
Protein details for HNRNPA2B1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P22626-ROA2_HUMAN
- Recommended name:
- Heterogeneous nuclear ribonucleoproteins A2/B1
- Protein Accession:
- P22626
- A0A024RA27
- A0A024RA61
- A8K064
- P22627
- Q9UC98
- Q9UDJ2
Protein attributes for HNRNPA2B1 Gene
- Size:
- 353 amino acids
- Molecular mass:
- 37430 Da
- Quaternary structure:
-
- Identified in the spliceosome C complex (PubMed:11991638). Identified in a IGF2BP1-dependent mRNP granule complex containing untranslated mRNAs (PubMed:17289661). Interacts with IGF2BP1 (PubMed:17289661). Interacts with C9orf72 (PubMed:24549040). Interacts with DGCR8 (PubMed:26321680). Interacts with TARDBP (PubMed:19429692). Interacts with CKAP5 (PubMed:15703215).
Three dimensional structures from OCA and Proteopedia for HNRNPA2B1 Gene
Protein Expression for HNRNPA2B1 Gene
Post-translational modifications for HNRNPA2B1 Gene
- Sumoylated in exosomes, promoting miRNAs-binding.
- Asymmetric dimethylation at Arg-266 constitutes the major methylation site (By similarity). According to a report, methylation affects subcellular location and promotes nuclear localization (PubMed:10772824). According to another report, methylation at Arg-266 does not influence nucleocytoplasmic shuttling (By similarity).
- Ubiquitination at Lys173, isoforms=2168, isoforms=259, Lys46, Lys22, and isoforms=3
- Modification sites at PhosphoSitePlus
Other Protein References for HNRNPA2B1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for HNRNPA2B1
- Novus Biologicals Antibodies for HNRNPA2B1
-
Abcam antibodies for HNRNPA2B1
- Invitrogen Antibodies for HNRNPA2B1 (AFLGC-HNRNPA2B1)
- GeneTex HNRNPA2B1 Antibody for HNRNPA2B1
-
Santa Cruz Biotechnology (SCBT) Antibodies for HNRNPA2B1
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for HNRNPA2B1
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-
Abcam proteins for HNRNPA2B1
Assay Products
No data available for DME Specific Peptides for HNRNPA2B1 Gene
Domains & Families for HNRNPA2B1 Gene
Gene Families for HNRNPA2B1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for HNRNPA2B1 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for HNRNPA2B1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P22626UniProtKB/Swiss-Prot:
ROA2_HUMAN :- The low complexity (LC) region is intrinsically disordered. When incubated at high concentration, it is able to polymerize into labile, amyloid-like fibers and form cross-beta polymerization structures, probably driving the formation of hydrogels. In contrast to irreversible, pathogenic amyloids, the fibers polymerized from LC regions disassemble upon dilution. A number of evidences suggest that formation of cross-beta structures by LC regions mediate the formation of RNA granules, liquid-like droplets, and hydrogels.
- Domain:
-
- The low complexity (LC) region is intrinsically disordered. When incubated at high concentration, it is able to polymerize into labile, amyloid-like fibers and form cross-beta polymerization structures, probably driving the formation of hydrogels. In contrast to irreversible, pathogenic amyloids, the fibers polymerized from LC regions disassemble upon dilution. A number of evidences suggest that formation of cross-beta structures by LC regions mediate the formation of RNA granules, liquid-like droplets, and hydrogels.
Function for HNRNPA2B1 Gene
Molecular function for HNRNPA2B1 Gene
- UniProtKB/Swiss-Prot Function:
- Heterogeneous nuclear ribonucleoprotein (hnRNP) that associates with nascent pre-mRNAs, packaging them into hnRNP particles. The hnRNP particle arrangement on nascent hnRNA is non-random and sequence-dependent and serves to condense and stabilize the transcripts and minimize tangling and knotting. Packaging plays a role in various processes such as transcription, pre-mRNA processing, RNA nuclear export, subcellular location, mRNA translation and stability of mature mRNAs (PubMed:19099192). Forms hnRNP particles with at least 20 other different hnRNP and heterogeneous nuclear RNA in the nucleus. Involved in transport of specific mRNAs to the cytoplasm in oligodendrocytes and neurons: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) or the A2RE11 (derivative 11 nucleotide oligonucleotide) sequence motifs present on some mRNAs, and promotes their transport to the cytoplasm (PubMed:10567417). Specifically binds single-stranded telomeric DNA sequences, protecting telomeric DNA repeat against endonuclease digestion (By similarity). Also binds other RNA molecules, such as primary miRNA (pri-miRNAs): acts as a nuclear reader of the N6-methyladenosine (m6A) mark by specifically recognizing and binding a subset of nuclear m6A-containing pri-miRNAs. Binding to m6A-containing pri-miRNAs promotes pri-miRNA processing by enhancing binding of DGCR8 to pri-miRNA transcripts (PubMed:26321680). Involved in miRNA sorting into exosomes following sumoylation, possibly by binding (m6A)-containing pre-miRNAs (PubMed:24356509). Acts as a regulator of efficiency of mRNA splicing, possibly by binding to m6A-containing pre-mRNAs (PubMed:26321680).
- UniProtKB/Swiss-Prot Function:
- (Microbial infection) Involved in the transport of HIV-1 genomic RNA out of the nucleus, to the microtubule organizing center (MTOC), and then from the MTOC to the cytoplasm: acts by specifically recognizing and binding the A2RE (21 nucleotide hnRNP A2 response element) sequence motifs present on HIV-1 genomic RNA, and promotes its transport.
Phenotypes From GWAS Catalog for HNRNPA2B1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003676 | nucleic acid binding | IEA | -- |
| GO:0003723 | RNA binding | IEA,IDA | 15659580 |
| GO:0003730 | mRNA 3-UTR binding | IDA | 10567417 |
| GO:0005515 | protein binding | IPI | 17289661 |
| GO:0035198 | miRNA binding | IDA | 24356509 |
Phenotypes for HNRNPA2B1 Gene
- GenomeRNAi human phenotypes for HNRNPA2B1:
-
- Decreased BPV1 E2 protein expression
- Increased HPV18 LCR reporter activity
- Decreased viability ratio
- Multipolar spindles
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Increased SMN2 exon 7 inclusion
- Decreased homologous recombination repair frequency
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased IL-8 secretion
- Increased viability
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for HNRNPA2B1
-
CRISPR Products
-
OriGene CRISPR knockouts for HNRNPA2B1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for HNRNPA2B1
- genomics-online: gRNA clones - Search results for 134 available HNRNPA2B1 gene related products
- Overview of 134 available HNRNPA2B1 gene related products
- Applied Biological Materials CRISPR for HNRNPA2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPA2B1
- GenScript: Design CRISPR guide RNA sequences for HNRNPA2B1
miRNA for HNRNPA2B1 Gene
- miRTarBase miRNAs that target HNRNPA2B1
-
- hsa-mir-103a-3p (MIRT027027)
- hsa-mir-16-5p (MIRT031508)
- hsa-mir-1296-5p (MIRT036075)
- hsa-mir-877-3p (MIRT037116)
- hsa-mir-615-3p (MIRT040278)
- hsa-mir-191-5p (MIRT045809)
- hsa-mir-27b-3p (MIRT046213)
- hsa-mir-30c-5p (MIRT048009)
- hsa-mir-197-3p (MIRT048098)
- hsa-mir-92a-3p (MIRT049721)
- hsa-let-7f-5p (MIRT051404)
- hsa-mir-1260b (MIRT052680)
- hsa-mir-124-3p (MIRT054395)
- hsa-mir-340-5p (MIRT054396)
- hsa-let-7c-3p (MIRT103305)
- hsa-mir-548c-3p (MIRT362352)
- hsa-mir-4446-5p (MIRT409087)
- hsa-mir-580-3p (MIRT446391)
- hsa-mir-539-5p (MIRT446392)
- hsa-mir-302a-5p (MIRT446393)
- hsa-mir-548o-3p (MIRT446394)
- hsa-mir-1323 (MIRT446395)
- hsa-mir-5582-3p (MIRT446396)
- hsa-mir-552-5p (MIRT536791)
- hsa-mir-7158-3p (MIRT536792)
- hsa-mir-4539 (MIRT536793)
- hsa-mir-1224-3p (MIRT536794)
- hsa-mir-4724-5p (MIRT536795)
- hsa-mir-140-3p (MIRT536796)
- hsa-mir-708-3p (MIRT536797)
- hsa-mir-1273d (MIRT536798)
- hsa-mir-4709-3p (MIRT562197)
- hsa-mir-3185 (MIRT562198)
- hsa-mir-3156-5p (MIRT562199)
- hsa-mir-6838-5p (MIRT562200)
- hsa-mir-424-5p (MIRT562201)
- hsa-mir-195-5p (MIRT562202)
- hsa-mir-497-5p (MIRT562203)
- hsa-mir-15a-5p (MIRT562204)
- hsa-mir-15b-5p (MIRT562205)
- hsa-mir-107 (MIRT562206)
- hsa-mir-4477a (MIRT567293)
- hsa-mir-3529-3p (MIRT567294)
- hsa-mir-944 (MIRT567295)
- hsa-mir-551b-5p (MIRT567296)
- hsa-mir-5006-3p (MIRT657349)
- hsa-mir-4755-5p (MIRT657350)
- hsa-mir-374a-3p (MIRT657351)
- hsa-mir-623 (MIRT657352)
- hsa-mir-361-5p (MIRT657353)
- hsa-mir-570-3p (MIRT657354)
- hsa-mir-6832-3p (MIRT657355)
- hsa-mir-2115-3p (MIRT657356)
- hsa-mir-211-5p (MIRT657357)
- hsa-mir-204-5p (MIRT657358)
- hsa-mir-4641 (MIRT746346)
- hsa-mir-4786-3p (MIRT748865)
- hsa-mir-7843-3p (MIRT759747)
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 134 available HNRNPA2B1 gene related products
- Overview of 134 available HNRNPA2B1 gene related products
Clone Products
-
OriGene ORF clones in human for HNRNPA2B1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HNRNPA2B1
- Addgene plasmids for HNRNPA2B1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HNRNPA2B1
- Applied Biological Materials Clones for HNRNPA2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for HNRNPA2B1
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for HNRNPA2B1 Gene
Localization for HNRNPA2B1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for HNRNPA2B1 Gene
- Nucleus, nucleoplasm. Cytoplasmic granule. Secreted, exosome. Note=Localized in cytoplasmic mRNP granules containing untranslated mRNAs (PubMed:17289661). Component of ribonucleosomes (PubMed:17289661). Not found in the nucleolus (PubMed:17289661). Found in exosomes follwong sumoylation (PubMed:24356509). {ECO:0000269 PubMed:17289661, ECO:0000269 PubMed:24356509}.
- Isoform A2: Nucleus. Cytoplasm. Note=Predominantly nucleoplasmic, however is also found in the cytoplasm of cells in some tissues (PubMed:17289661). {ECO:0000269 PubMed:17289661}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| cytosol | 1 |
- Nucleoplasm (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000781 | chromosome, telomeric region | ISS | -- |
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005634 | nucleus | IEA,IDA | 22720776 |
| GO:0005654 | nucleoplasm | IDA,TAS | -- |
| GO:0005681 | spliceosomal complex | IDA | 9731529 |
Pathways & Interactions for HNRNPA2B1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
| 2 | Chromatin Regulation / Acetylation | ||
| 3 | Telomere Extension by Telomerase | ||
| 4 | Gene Expression |
.48
|
|
Pathways by source for HNRNPA2B1 Gene
1 BioSystems pathway for HNRNPA2B1 Gene
4 Reactome pathways for HNRNPA2B1 Gene
1 Qiagen pathway for HNRNPA2B1 Gene
1 Cell Signaling Technology pathway for HNRNPA2B1 Gene
Interacting Proteins for HNRNPA2B1 Gene
Selected Interacting proteins:
P22626-ROA2_HUMAN
ENSP00000346694
for HNRNPA2B1 Gene via
MINT
STRING
UniProtKB
IID
GPS-Prot Interaction Network for HNRNPA2B1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
| GO:0000398 | mRNA splicing, via spliceosome | TAS | -- |
| GO:0006397 | mRNA processing | IEA,IDA | 2557628 |
| GO:0006406 | mRNA export from nucleus | IEA,IDA | 10567417 |
| GO:0008380 | RNA splicing | IEA | -- |
Transcripts for HNRNPA2B1 Gene
mRNA/cDNA for HNRNPA2B1 Gene
- (5) REFSEQ mRNAs :
- (6) Additional mRNA sequences :
- (1106) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000476233 1220 bps (uc064cdu.1)
- ENST00000354667 3664 bps (uc003sxr.5)
- ENST00000360787 1724 bps (uc064cdw.1)
- ENST00000463181 6284 bps (uc064cdx.1)
- ENST00000356674 1711 bps (uc003sxs.5)
Unigene Clusters for HNRNPA2B1 Gene
CRISPR Products
-
OriGene CRISPR knockouts for HNRNPA2B1
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- Overview of 134 available HNRNPA2B1 gene related products
- Applied Biological Materials CRISPR for HNRNPA2B1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for HNRNPA2B1
- GenScript: Design CRISPR guide RNA sequences for HNRNPA2B1
miRNA Products
Inhibitory RNA Products
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- genomics-online: shRNA clones - Search results for 134 available HNRNPA2B1 gene related products
- Overview of 134 available HNRNPA2B1 gene related products
Clone Products
-
OriGene ORF clones in human for HNRNPA2B1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for HNRNPA2B1
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- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for HNRNPA2B1
- Applied Biological Materials Clones for HNRNPA2B1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP13: |
| ExUns: | 14b | ^ | 15a | · | 15b | · | 15c | · | 15d | · | 15e | · | 15f |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | |||||||||||||
| SP3: | |||||||||||||
| SP4: | |||||||||||||
| SP5: | - | ||||||||||||
| SP6: | |||||||||||||
| SP7: | |||||||||||||
| SP8: | - | - | |||||||||||
| SP9: | - | ||||||||||||
| SP10: | |||||||||||||
| SP11: | |||||||||||||
| SP12: | - | - | |||||||||||
| SP13: | - | - |
Expression for HNRNPA2B1 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for HNRNPA2B1 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of HNRNPA2B1 Gene:
HNRNPA2B1SOURCE GeneReport for Unigene cluster for HNRNPA2B1 Gene:
Hs.487774Evidence on tissue expression from TISSUES for HNRNPA2B1 Gene
- Nervous system(5)
- Liver(4.6)
- Intestine(4.4)
- Lung(4.4)
- Blood(3.6)
- Muscle(3.2)
- Spleen(3.1)
- Heart(3)
- Kidney(3)
- Lymph node(2.9)
- Skin(2.9)
- Bone(2.8)
- Pancreas(2.8)
- Thyroid gland(2.8)
- Eye(2.6)
- Adrenal gland(2.5)
- Bone marrow(2.3)
- Gall bladder(2.3)
- Stomach(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for HNRNPA2B1 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- immune
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cranial nerve
- head
- jaw
- mandible
- maxilla
- mouth
- neck
- skull
Thorax:
- chest wall
- clavicle
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- kidney
Pelvis:
- pelvis
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- peripheral nerve
- peripheral nervous system
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for HNRNPA2B1
-
OriGene qPCR primer pairs and template standards for HNRNPA2B1
- genomics-online: primer clones - Search results for 134 available HNRNPA2B1 gene related products
- Overview of 134 available HNRNPA2B1 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HNRNPA2B1 Gene
Orthologs for HNRNPA2B1 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| oppossum (Monodelphis domestica) |
Mammalia | HNRNPA2B1 34 |
|
OneToOne | |
| chimpanzee (Pan troglodytes) |
Mammalia | HNRNPA2B1 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | HNRNPA2B1 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | HNRNPA2B1 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Hnrnpa2b1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Hnrnpa2b1 16 34 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | HNRNPA2B1 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | HNRNPA2B1 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | HNRNPA2B1 34 |
|
OneToOne | |
| African clawed frog (Xenopus laevis) |
Amphibia | hnrpa2b1-prov 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | Hrb87F 34 |
|
ManyToMany | |
| Hrb98DE 34 |
|
ManyToMany | |||
| Rb97D 34 |
|
ManyToMany | |||
| worm (Caenorhabditis elegans) |
Secernentea | hrp-1 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HRP1 34 |
|
OneToMany | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.10370 34 |
|
OneToMany |
- Species where no ortholog for HNRNPA2B1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- zebrafish (Danio rerio)
Evolution for HNRNPA2B1 Gene
- ENSEMBL:
- Gene Tree for HNRNPA2B1 (if available)
- TreeFam:
- Gene Tree for HNRNPA2B1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for HNRNPA2B1: view image
Paralogs for HNRNPA2B1 Gene
(17) SIMAP similar genes for HNRNPA2B1 Gene using alignment to 2 proteins:
- ROA2_HUMAN
- I6L957_HUMAN
Pseudogenes.org Pseudogenes for HNRNPA2B1 Gene
Variants for HNRNPA2B1 Gene
| SNP ID | Clin | Chr 07 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs117082250 | benign, not specified, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 26,196,414(-) | A/C/G | coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant | |
| rs141885504 | likely-benign, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 26,193,672(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs34317198 | benign, not specified, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 26,196,615(-) | T/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs397515326 | pathogenic, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422] | 26,193,346(-) | T/A | coding_sequence_variant, missense_variant, non_coding_transcript_variant | |
| rs41275982 | benign, not specified, Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 | 26,197,618(-) | A/C/G | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv3612615 | CNV | gain | 21293372 |
| esv3891090 | CNV | gain | 25118596 |
| nsv606459 | CNV | gain | 21841781 |
| nsv606460 | CNV | loss | 21841781 |
| nsv7393 | OTHER | inversion | 18451855 |
Residual Variation Intolerance Score:
21.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.27;
6.02% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for HNRNPA2B1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HNRNPA2B1 Gene
Disorders for HNRNPA2B1 Gene
(7) MalaCards diseases for HNRNPA2B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 |
|
|
| frontotemporal dementia |
|
|
| spinocerebellar ataxia 31 |
|
|
| dementia |
|
|
| myopathy |
|
|
Search HNRNPA2B1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ROA2_HUMAN- Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422]: An autosomal dominant disease characterized by disabling muscle weakness clinically resembling to limb girdle muscular dystrophy, osteolytic bone lesions consistent with Paget disease, and premature frontotemporal dementia. Clinical features show incomplete penetrance. {ECO:0000269 PubMed:23455423}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for HNRNPA2B1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for HNRNPA2B1 Gene
Publications for HNRNPA2B1 Gene
- Two homologous genes, originated by duplication, encode the human hnRNP proteins A2 and A1. (PMID: 8029005) Biamonti G … Riva S (Nucleic acids research 1994) 2 3 4 58
- HNRNPA2B1 Is a Mediator of m(6)A-Dependent Nuclear RNA Processing Events. (PMID: 26321680) Alarcón CR … Tavazoie SF (Cell 2015) 3 4 58
- C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking. (PMID: 24549040) Farg MA … Atkin JD (Human molecular genetics 2014) 3 4 58
- Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. (PMID: 23455423) Kim HJ … Taylor JP (Nature 2013) 3 4 58
- Sumoylated hnRNPA2B1 controls the sorting of miRNAs into exosomes through binding to specific motifs. (PMID: 24356509) Villarroya-Beltri C … Sánchez-Madrid F (Nature communications 2013) 3 4 58
Products for HNRNPA2B1 Gene
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