Gene Gene information from NCBI Gene database.
Entrez ID 55646
Gene name Ly1 antibody reactive
Gene symbol LYAR
Synonyms (NCBI Gene)
ZC2HC2ZLYAR
Chromosome 4
Chromosome location 4p16.3
miRNA miRNA information provided by mirtarbase database.
12
miRTarBase ID miRNA Experiments Reference
MIRT031947 hsa-miR-16-5p Proteomics 18668040
MIRT1123070 hsa-miR-3185 CLIP-seq
MIRT1123071 hsa-miR-4519 CLIP-seq
MIRT1123072 hsa-miR-488 CLIP-seq
MIRT1123073 hsa-miR-340 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 31413131
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 25092918
GO:0001750 Component Photoreceptor outer segment IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617684 26021 ENSG00000145220
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX58
Protein name Cell growth-regulating nucleolar protein
Protein function Plays a role in the maintenance of the appropriate processing of 47S/45S pre-rRNA to 32S/30S pre-rRNAs and their subsequent processing to produce 18S and 28S rRNAs (PubMed:24495227). Also acts at the level of transcription regulation. Along with
PDB 6ZMI , 6ZMO , 6ZVH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17848 zf-ACC 3 28 Acetyl-coA carboxylase zinc finger domain Domain
PF08790 zf-LYAR 31 58 LYAR-type C2HC zinc finger Domain
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in testis. {ECO:0000269|PubMed:24990247}.
Sequence
MVFFTCNACGESVKKIQVEKHVSVCRNCECLSCIDCGKDFWGDDYKNHVKCISEDQKYGG
KGYEGKTHKGDIKQQAWIQKISELIKRPNVSPKVRELLEQISAFDNVPRKKAKFQNWMKN
SLKVHNESILDQVWNIFSEASNSEPVNKEQDQRPLHPVANPHAEISTKVPASKVKDAVEQ
QGEVKKNKRERKEERQKKRKREKKELKLENHQENSRNQKPKKRKKGQEADLEAGGEEVPE
ANGSAGKRSKKKKQRKDSASEEEAHVGAGKRKRRHSEVETDSKKKKMKLPEHPEGGEPED
DEAPAKGKFNWKGTIKAILKQAPDNEITIKKLRKKVLAQYYTVTDEHHRSEEELLVIFNK
KISKNPTFKLLKDKVKLVK
Sequence length 379
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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)
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.
Phenotype Name Clinical Significance Source Evidence Score
CENTRAL NERVOUS SYSTEM ORIGIN VERTIGO GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PERIPHERAL VERTIGO GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VESTIBULAR DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult Medulloblastoma Medulloblastoma BEFREE 22815056
★☆☆☆☆
Found in Text Mining only
beta Thalassemia Beta thalassemia Pubtator 36614221 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28686580, 31504794 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 34696677 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 33111744 Associate
★☆☆☆☆
Found in Text Mining only
Childhood Medulloblastoma Medulloblastoma BEFREE 22815056
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 26413750, 37604903 Associate
★☆☆☆☆
Found in Text Mining only
Medulloblastoma Medulloblastoma BEFREE 22815056
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma BEFREE 28686580
★☆☆☆☆
Found in Text Mining only
Neuroblastoma Neuroblastoma Pubtator 28686580 Associate
★☆☆☆☆
Found in Text Mining only