Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	120766137
Gene name	HR upstream open reading frame
Gene symbol	HRURF
Synonyms (NCBI Gene)	HMUMUHHU2HR
Chromosome	8
Chromosome location	8p21.3

GO ID	Ontology	Definition	Evidence	Reference
GO:0006417	Process	Regulation of translation	IEA

MIM	HGNC	e!Ensembl
619257	55085	ENSG00000288677

Protein Protein information from UniProt database. Download as csv Download as pdf
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
Sequence length
Interactions	View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypotrichosis 4	Pathogenic	rs387906382, rs267606867, rs267606868, rs267606869, rs1827030121	RCV001353147 RCV001353148 RCV001353149 RCV001353150 RCV001353151	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRICHIA WITH PAPULAR LESIONS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Disorder of macula of retina	Disorder Of Macula Of Retina	BEFREE	1451298	★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile macular degeneration	Macular degeneration	BEFREE	1451298	★★★★★ ★☆☆☆☆ Found in Text Mining only

HRURF (HR upstream open reading frame)

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