Gene Gene information from NCBI Gene database.
Entrez ID 55651
Gene name NHP2 ribonucleoprotein
Gene symbol NHP2
Synonyms (NCBI Gene)
DKCB2NHP2PNOLA2
Chromosome 5
Chromosome location 5q35.3
Summary This gene is a member of the H/ACA snoRNPs (small nucleolar ribonucleoproteins) gene family. snoRNPs are involved in various aspects of rRNA processing and modification and have been classified into two families: C/D and H/ACA. The H/ACA snoRNPs also incl
miRNA miRNA information provided by mirtarbase database.
109
miRTarBase ID miRNA Experiments Reference
MIRT050265 hsa-miR-25-3p CLASH 23622248
MIRT042952 hsa-miR-324-3p CLASH 23622248
MIRT038252 hsa-miR-330-5p CLASH 23622248
MIRT440114 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440114 hsa-miR-218-5p HITS-CLIP 23212916
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
GO ID Ontology Definition Evidence Reference
GO:0000454 Process SnoRNA guided rRNA pseudouridine synthesis IEA
GO:0000781 Component Chromosome, telomeric region HDA 19135898
GO:0003723 Function RNA binding HDA 22658674
GO:0003723 Function RNA binding IEA
GO:0003723 Function RNA binding IPI 18082603, 20351177, 22527283
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606470 14377 ENSG00000145912
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NX24
Protein name H/ACA ribonucleoprotein complex subunit 2 (Nucleolar protein family A member 2) (snoRNP protein NHP2)
Protein function Required for ribosome biogenesis and telomere maintenance. Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA. This involves the isomerization of uridine such that the ribose is
PDB 7BGB , 7TRC , 7V9A , 8OUE , 8OUF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01248 Ribosomal_L7Ae 45 139 Ribosomal protein L7Ae/L30e/S12e/Gadd45 family Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain, colon, heart, kidney, ovary, pancreas, placenta, prostate, skeletal muscle, small intestine, spleen, testis and thymus. Also expressed at lower levels in the liver. {ECO:0000269|PubMed:12020816}.
Sequence
Sequence length 153
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ribosome biogenesis in eukaryotes   Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Dyskeratosis congenita, autosomal recessive 1 Pathogenic rs121908089, rs121908090, rs121908091 RCV000032277
RCV000032276
RCV000032278
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita, autosomal recessive 2 Pathogenic rs121908089, rs121908090, rs121908091 RCV000004501
RCV000004502
RCV000004503
★★★★☆
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
Dyskeratosis congenita Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity ClinVar
Disgenet, Orphanet
Disgenet, Orphanet
Disgenet, Orphanet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE CTD, Disgenet
CTD, Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Dyskeratosis Congenita, Recessive Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
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
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anemia Anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia HPO_DG
★☆☆☆☆
Found in Text Mining only
Atrophy of testis Testicular atrophy HPO_DG
★☆☆☆☆
Found in Text Mining only
Bone Marrow Failure Disorders Bone marrow failure syndromes Pubtator 37440454 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Cirrhosis Cirrhosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34129943 Associate
★☆☆☆☆
Found in Text Mining only
Depression Postpartum Major depressive disorder Pubtator 34856750 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus HPO_DG
★☆☆☆☆
Found in Text Mining only