HNRNPK Chromosome 9
Heterogeneous nuclear ribonucleoprotein K
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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 is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Heterogeneous nuclear ribonucleoproteins"
Locus Type
gene with protein product
Location
9q21.32
Ensembl
ENSG00000165119
Associated Conditions (6)
Inborn genetic diseases
Au-Kline syndrome
Generalized hypotonia
HNRNPK-related disorder
Intellectual disability
Neonatal encephalopathy
Key Variants
RS1014910492
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1048199759
Conflicting classifications of pathogenicity
Au-Kline syndrome, Au-Kline syndrome
Health Risk
RS1554700678
Conflicting classifications of pathogenicity
Au-Kline syndrome, Inborn genetic diseases, Au-Kline syndrome
Health Risk
RS1957135138
Conflicting classifications of pathogenicity
Au-Kline syndrome, Au-Kline syndrome
Health Risk
RS375704482
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS766562951
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS960183341
Conflicting classifications of pathogenicity
Health Risk
RS1008634601
Likely pathogenic
Au-Kline syndrome, Au-Kline syndrome
Health Risk
RS1064794967
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1397068742
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554699378
Likely pathogenic
Health Risk
RS1554700718
Likely pathogenic
Au-Kline syndrome, Au-Kline syndrome
Health Risk
All Variants (71)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1956917064 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2133039737 | Health Risk | Pathogenic | — |
| RS2491951548 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491952203 | Health Risk | Pathogenic | — |
| RS2491952548 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491957120 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491957897 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491957986 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491962274 | Health Risk | Pathogenic | HNRNPK-related disorder, HNRNPK-related disorder |
| RS2491962345 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491962567 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491985651 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491990519 | Health Risk | Pathogenic | — |
| RS2492005109 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS767454980 | Health Risk | Pathogenic | — |
| RS863223402 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS879255263 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS886041807 | Health Risk | Pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS1588417800 | Health Risk | Pathogenic/Likely pathogenic | Au-Kline syndrome, Au-Kline syndrome |
| RS2491969421 | Health Risk | Pathogenic/Likely pathogenic | Neonatal encephalopathy, Au-Kline syndrome, Neonatal encephalopathy |
| RS863223403 | Health Risk | Pathogenic/Likely pathogenic | Au-Kline syndrome, Au-Kline syndrome |