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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]
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 Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia. Among its related pathways are Telomere Extension by Telomerase and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and RNA binding. An important paralog of this gene is HNRNPA3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IEA,IDA | 15659580 |
GO:0003729 | mRNA binding | IBA | -- |
GO:0003730 | mRNA 3'-UTR binding | IDA | 10567417 |
GO:0005515 | protein binding | IPI | 17289661 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | ISS | -- |
GO:0005576 | extracellular region | IEA | -- |
GO:0005634 | nucleus | IBA,IDA | 22720776 |
GO:0005654 | nucleoplasm | IDA,TAS | -- |
GO:0005681 | spliceosomal complex | IDA | 9731529 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | mRNA Splicing - Major Pathway |
.79
|
.41
|
2 | Chromatin Regulation / Acetylation | ||
3 | Telomere Extension by Telomerase |
Telomere Extension by Telomerase
-
|
|
4 | Gene Expression |
.48
|
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 | -- |
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: | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Oppossum (Monodelphis domestica) |
Mammalia | HNRNPA2B1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | HNRNPA2B1 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | HNRNPA2B1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | HNRNPA2B1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Hnrnpa2b1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Hnrnpa2b1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | HNRNPA2B1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | HNRNPA2B1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | HNRNPA2B1 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | hnrpa2b1-prov 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Hrb87F 31 |
|
ManyToMany | |
Hrb98DE 31 |
|
ManyToMany | |||
Rb97D 31 |
|
ManyToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | hrp-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | HRP1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10370 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
646482 | Uncertain Significance: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 26,196,491(-) | A/G | INTRON_VARIANT | |
659107 | Uncertain Significance: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 26,196,661(-) | G/A | INTRON_VARIANT | |
662036 | Uncertain Significance: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 26,196,402(-) | A/G | SYNONYMOUS_VARIANT | |
703967 | Benign: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 26,195,916(-) | G/C | INTRON_VARIANT | |
704090 | Likely Benign: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 | 26,193,660(-) | T/G | SYNONYMOUS_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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 |
|
|
inclusion body myopathy with paget disease of bone and frontotemporal dementia |
|
|
inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 |
|
|
multisystem proteinopathy |
|
|
frontotemporal dementia |
|
|