• Gene id: 55651

Gene Summary

• Gene Symbol: NHP2   Gene   UCSC   Ensembl
• Aliases: DKCB2, NHP2P, NOLA2
• Gene name: NHP2 ribonucleoprotein
• Alternate names: H/ACA ribonucleoprotein complex subunit 2, NHP2 ribonucleoprotein homolog, NHP2-like protein, nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs), snoRNP protein NHP2,
• Gene location: 5q35.3 (111204790: 111185968)     Exons: 20     NC_000001.11
• Gene summary(Entrez): 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
• OMIM: 606470

Protein Summary

• Protein general information: Q9NX24  
  • Name: H/ACA ribonucleoprotein complex subunit 2 (Nucleolar protein family A member 2) (snoRNP protein NHP2)
  • Length: 153  
  • Mass: 17201
  • 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
• Sequence:

  MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQIRRGVKEVQKFVNKGE
  KGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGSKRPTCVIMVKPHEEYQEAYDECLEEVQSLP
  LPL

• Structural information:
  • Interpro: IPR002415  IPR029064  IPR004038  IPR018492  
  • STRING: ENSP00000274606
• Other Databases: GeneCards:  NHP2  Malacards:  NHP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034513	box H/ACA snoRNA binding	IBA	molecular function
GO:0031429	box H/ACA snoRNP complex	IBA	cellular component
GO:0031120	snRNA pseudouridine synthesis	IBA	biological process
GO:0031118	rRNA pseudouridine synthesis	IBA	biological process
GO:0003723	RNA binding	IBA	molecular function
GO:0000470	maturation of LSU-rRNA	IBA	biological process
GO:0000469	cleavage involved in rRNA processing	IBA	biological process
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	IDA	biological process
GO:0005730	nucleolus	IEA	cellular component
GO:0003723	RNA binding	IEA	molecular function
GO:0042254	ribosome biogenesis	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0006364	rRNA processing	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0031118	rRNA pseudouridine synthesis	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034513	box H/ACA snoRNA binding	IPI	molecular function
GO:0005697	telomerase holoenzyme complex	IDA	cellular component
GO:0007004	telomere maintenance via telomerase	TAS	biological process
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:1904874	positive regulation of telomerase RNA localization to Cajal body	HMP	biological process
GO:0070034	telomerase RNA binding	IPI	molecular function
GO:0090661	box H/ACA telomerase RNP complex	IDA	cellular component
GO:0031429	box H/ACA snoRNP complex	IDA	cellular component
GO:0072589	box H/ACA scaRNP complex	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0031429	box H/ACA snoRNP complex	TAS	cellular component
GO:0005697	telomerase holoenzyme complex	TAS	cellular component
GO:0090661	box H/ACA telomerase RNP complex	TAS	cellular component
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0003723	RNA binding	IPI	molecular function
GO:0015030	Cajal body	IEA	cellular component
GO:0005730	nucleolus	IEA	cellular component
GO:0031118	rRNA pseudouridine synthesis	ISS	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005732	small nucleolar ribonucleoprotein complex	ISS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03008	Ribosome biogenesis in eukaryotes

Diseases

Associated diseases	References
Dyskeratosis congenita	KEGG:H00507
Dyskeratosis congenita	KEGG:H00507
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881