HNRNPDL Chromosome 4
Heterogeneous nuclear ribonucleoprotein D like
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What This Gene Does
This gene belongs to the 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 RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
Gene Info
Gene Group
"RNA binding motif containing|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
4q21.22
Ensembl
ENSG00000152795
Associated Conditions (2)
Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles
Key Variants
RS1447722708
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS1553901266
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS199543859
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS200123403
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS200595389
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS201774571
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS373042980
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS760683509
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS763175161
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS911762606
Conflicting classifications of pathogenicity
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
Health Risk
RS2110031828
Likely pathogenic
Health Risk
RS587777669
Pathogenic/Likely pathogenic
Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G, HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles
Health Risk
All Variants (12)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1447722708 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS1553901266 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS199543859 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS200123403 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS200595389 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS201774571 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS373042980 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS760683509 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS763175161 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS911762606 | Health Risk | Conflicting classifications of pathogenicity | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G |
| RS2110031828 | Health Risk | Likely pathogenic | — |
| RS587777669 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G, HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles |