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This gene is expressed in the liver, and encodes a short peptide that is localized predominantly to the cytoplasm. Transient transfection studies showed that expression of this gene significantly inhibited cell growth, and it may have a role in apoptosis. Expression of this gene is downregulated or lost in hepatocellular carcinomas (HCC), suggesting that loss of this gene is involved in carcinogenesis of hepatocytes (PMID:12971969). Also to note is that this gene maps to the 3'-noncoding region of HEPACAM gene (GeneID:220296) on the antisense strand (PMID:15885354). [provided by RefSeq, Aug 2011]
HEPN1 (Hepatocellular Carcinoma, Down-Regulated 1) is a Protein Coding gene. Diseases associated with HEPN1 include Hepatocellular Carcinoma.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
This gene was present in the common ancestor of human and chimp.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | HEPN1 30 31 |
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OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
877471 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,919,903(+) | C/T | SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT | |
877472 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,114(+) | C/G | THREE_PRIME_UTR_VARIANT | |
878496 | Likely Benign: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,307(+) | C/A | THREE_PRIME_UTR_VARIANT | |
878497 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,411(+) | C/T | THREE_PRIME_UTR_VARIANT | |
878498 | Uncertain Significance: Megalencephalic leukoencephalopathy with subcortical cysts | 124,920,429(+) | G/A | THREE_PRIME_UTR_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2745189 | CNV | deletion | 23290073 |
Disorder | Aliases | PubMed IDs |
---|---|---|
hepatocellular carcinoma |
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