Entity Details

Primary name NHP2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9NX24
EntryNameNHP2_HUMAN
FullNameH/ACA ribonucleoprotein complex subunit 2
TaxID9606
Evidenceevidence at protein level
Length153
SequenceStatuscomplete
DateCreated2005-07-05
DateModified2021-06-02

Ontological Relatives

GenesNHP2

GO terms

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GOName
GO:0000469 cleavage involved in rRNA processing
GO:0000470 maturation of LSU-rRNA
GO:0000781 chromosome, telomeric region
GO:0003723 RNA binding
GO:0005654 nucleoplasm
GO:0005697 telomerase holoenzyme complex
GO:0005732 sno(s)RNA-containing ribonucleoprotein complex
GO:0007004 telomere maintenance via telomerase
GO:0031118 rRNA pseudouridine synthesis
GO:0031120 snRNA pseudouridine synthesis
GO:0031429 box H/ACA snoRNP complex
GO:0034513 box H/ACA snoRNA binding
GO:0070034 telomerase RNA binding
GO:0072589 box H/ACA scaRNP complex
GO:0090661 box H/ACA telomerase RNP complex
GO:1904874 positive regulation of telomerase RNA localization to Cajal body

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR002415 H/ACA ribonucleoprotein complex, subunit Nhp2, eukaryoteFamilyFamily
IPR004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45DomainDomain
IPR018492 Ribosomal protein L7Ae/L8/Nhp2 familyFamilyFamily
IPR029064 50S ribosomal protein L30e-likeFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
613987 OMIMDyskeratosis congenita, autosomal recessive, 2 (DKCB2)A rare multisystem disorder caused by defective telomere maintenance. It is characterized by progressive bone marrow failure, and the clinical triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Common but variable features include premature graying, aplastic anemia, low platelets, osteoporosis, pulmonary fibrosis, and liver fibrosis among others. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. The disease is caused by variants affecting the gene represented in this entry.