HNRNPA2B1 Chromosome 7
Heterogeneous nuclear ribonucleoprotein A2/B1
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What This Gene Does
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]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
7p15.2
Ensembl
ENSG00000122566
Associated Conditions (7)
Oculopharyngeal muscular dystrophy 2
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Myopathy
autophagic vacuolar
infantile-onset
HNRNPA2B1-related disorder
Frontotemporal dementia
Key Variants
RS2535701576
Conflicting classifications of pathogenicity
Oculopharyngeal muscular dystrophy 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, Myopathy
Health Risk
RS370050080
Conflicting classifications of pathogenicity
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, HNRNPA2B1-related disorder, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
Health Risk
RS776731510
Conflicting classifications of pathogenicity
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
Health Risk
RS1783018501
Likely pathogenic
Frontotemporal dementia, Frontotemporal dementia
Health Risk
RS2128109836
Likely 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
Health Risk
RS2535701680
Pathogenic
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2
Health Risk
RS2535701912
Pathogenic
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2
Health Risk
RS2535702155
Pathogenic
Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2
Health Risk
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
Health Risk
All Variants (9)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2535701576 | Health Risk | Conflicting classifications of pathogenicity | Oculopharyngeal muscular dystrophy 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, Myopathy |
| RS370050080 | Health Risk | Conflicting classifications of pathogenicity | Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, HNRNPA2B1-related disorder, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 |
| RS776731510 | Health Risk | Conflicting classifications of pathogenicity | 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 |
| RS1783018501 | Health Risk | Likely pathogenic | Frontotemporal dementia, Frontotemporal dementia |
| RS2128109836 | Health Risk | Likely 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 |
| RS2535701680 | Health Risk | Pathogenic | Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS2535701912 | Health Risk | Pathogenic | Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS2535702155 | Health Risk | Pathogenic | Oculopharyngeal muscular dystrophy 2, Oculopharyngeal muscular dystrophy 2 |
| RS397515326 | Health Risk | 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 |