HRURF (HR upstream open reading frame)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 120766137
Gene name HR upstream open reading frame
Gene symbol HRURF
Synonyms (NCBI Gene)
HMUMUHHU2HR
Chromosome 8
Chromosome location 8p21.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
1
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
GO ID Ontology Definition Evidence Reference
GO:0006417 Process Regulation of translation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
619257 55085 ENSG00000288677
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P0DUH7
Protein name Protein HRURF (HR upstream open reading frame protein)
Protein function May function as an inhibitory translational control element that can negatively regulate protein translation of HR gene.
Family and domains
Sequence 


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Sequence length
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Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hypotrichosis 4 Pathogenic rs387906382, rs267606867, rs267606868, rs267606869, rs1827030121 RCV001353147
RCV001353148
RCV001353149
RCV001353150
RCV001353151