Gene Gene information from NCBI Gene database.
Entrez ID 10412
Gene name NSA2 ribosome biogenesis factor
Gene symbol NSA2
Synonyms (NCBI Gene)
CDK105HCL-G1HCLG1HUSSY-29HUSSY29TINP1
Chromosome 5
Chromosome location 5q13.3
Summary This gene encodes a nucleolar protein involved in cell cycle regulation and proliferation. This gene was identified based on sequence similarity to a highly conserved Saccharomyces cerevisiae gene encoding a pre-ribosomal protein, which is involved in lar
miRNA miRNA information provided by mirtarbase database.
89
miRTarBase ID miRNA Experiments Reference
MIRT020758 hsa-miR-155-5p Proteomics 18668040
MIRT032355 hsa-let-7b-5p Proteomics 18668040
MIRT695388 hsa-miR-216b-5p HITS-CLIP 23313552
MIRT695387 hsa-miR-889-5p HITS-CLIP 23313552
MIRT695386 hsa-miR-135a-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
11
GO ID Ontology Definition Evidence Reference
GO:0000460 Process Maturation of 5.8S rRNA IBA
GO:0000470 Process Maturation of LSU-rRNA IBA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0005634 Component Nucleus IEA
GO:0005730 Component Nucleolus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612497 30728 ENSG00000164346
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95478
Protein name Ribosome biogenesis protein NSA2 homolog (Hairy cell leukemia protein 1) (TGF-beta-inducible nuclear protein 1)
Protein function Involved in the biogenesis of the 60S ribosomal subunit. May play a part in the quality control of pre-60S particles (By similarity).
PDB 8FKR , 8FKS , 8FKT , 8FKU , 8FKV , 8FKW , 8FKX , 8FKY , 8FKZ , 8FL0 , 8FL2 , 8FL3 , 8FL4 , 8FL6 , 8FL7 , 8FL9 , 8IDY , 8IE3 , 8INE , 8INF , 8INK , 8IPD , 8IPX , 8IPY , 8IR1 , 8IR3 , 8RL2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01201 Ribosomal_S8e 1 259 Ribosomal protein S8e Family
Sequence
Sequence length 260
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
BILIARY CIRRHOSIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, BILIARY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CHOLANGITIS Disgenet
★★☆☆☆
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
Biliary cirrhosis Biliary cirrhosis CTD_human_DG 18422935
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Biliary Cirrhosis, Primary, 1 Biliary cirrhosis CTD_human_DG 18422935
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 36407085 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Diabetes BEFREE 22095236, 23220173
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus BEFREE 22095236, 23220173
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus BEFREE 22095236
★☆☆☆☆
Found in Text Mining only
Diabetic Nephropathy Diabetic Nephropathy BEFREE 22095236, 23220173
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35139491 Associate
★☆☆☆☆
Found in Text Mining only
Hairy Cell Leukemia Hairy Cell Leukemia BEFREE 23912275
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 22095236, 23220173
★☆☆☆☆
Found in Text Mining only