NHP2 (NHP2 ribonucleoprotein)

Gene

• Entrez ID: 55651
• Gene name: NHP2 ribonucleoprotein
• Gene symbol: NHP2
• Synonyms (NCBI Gene): DKCB2, NHP2P, NOLA2
• 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

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
MIRT1184640	hsa-miR-1179	CLIP-seq
MIRT1184641	hsa-miR-1254	CLIP-seq
MIRT1184642	hsa-miR-183	CLIP-seq
MIRT1184643	hsa-miR-205	CLIP-seq
MIRT1184644	hsa-miR-22	CLIP-seq
MIRT1184645	hsa-miR-3116	CLIP-seq
MIRT1184646	hsa-miR-3134	CLIP-seq
MIRT1184647	hsa-miR-433	CLIP-seq
MIRT1184648	hsa-miR-4446-3p	CLIP-seq
MIRT1184649	hsa-miR-4520a-3p	CLIP-seq
MIRT1184650	hsa-miR-4534	CLIP-seq
MIRT1184651	hsa-miR-4675	CLIP-seq
MIRT1184652	hsa-miR-4687-3p	CLIP-seq
MIRT1184653	hsa-miR-4724-3p	CLIP-seq
MIRT1184654	hsa-miR-4741	CLIP-seq
MIRT1184655	hsa-miR-488	CLIP-seq
MIRT1184656	hsa-miR-558	CLIP-seq
MIRT1184657	hsa-miR-661	CLIP-seq
MIRT1184658	hsa-miR-139-5p	CLIP-seq
MIRT1184642	hsa-miR-183	CLIP-seq
MIRT1184646	hsa-miR-3134	CLIP-seq
MIRT1184659	hsa-miR-3168	CLIP-seq
MIRT1184649	hsa-miR-4520a-3p	CLIP-seq
MIRT1184650	hsa-miR-4534	CLIP-seq
MIRT1184660	hsa-miR-4700-3p	CLIP-seq
MIRT1184640	hsa-miR-1179	CLIP-seq
MIRT1184641	hsa-miR-1254	CLIP-seq
MIRT2053544	hsa-miR-1293	CLIP-seq
MIRT1184658	hsa-miR-139-5p	CLIP-seq
MIRT1184642	hsa-miR-183	CLIP-seq
MIRT1184643	hsa-miR-205	CLIP-seq
MIRT2053545	hsa-miR-2110	CLIP-seq
MIRT2053546	hsa-miR-2115	CLIP-seq
MIRT1184644	hsa-miR-22	CLIP-seq
MIRT1184645	hsa-miR-3116	CLIP-seq
MIRT1184646	hsa-miR-3134	CLIP-seq
MIRT2053547	hsa-miR-3150a-3p	CLIP-seq
MIRT1184659	hsa-miR-3168	CLIP-seq
MIRT2053548	hsa-miR-3185	CLIP-seq
MIRT2053549	hsa-miR-3189-3p	CLIP-seq
MIRT2053550	hsa-miR-4271	CLIP-seq
MIRT2053551	hsa-miR-4302	CLIP-seq
MIRT2053552	hsa-miR-4312	CLIP-seq
MIRT2053553	hsa-miR-432	CLIP-seq
MIRT1184647	hsa-miR-433	CLIP-seq
MIRT1184648	hsa-miR-4446-3p	CLIP-seq
MIRT2053554	hsa-miR-4459	CLIP-seq
MIRT2053555	hsa-miR-4471	CLIP-seq
MIRT2053556	hsa-miR-4483	CLIP-seq
MIRT1184649	hsa-miR-4520a-3p	CLIP-seq
MIRT1184650	hsa-miR-4534	CLIP-seq
MIRT2053557	hsa-miR-4646-5p	CLIP-seq
MIRT1184651	hsa-miR-4675	CLIP-seq
MIRT2053558	hsa-miR-4676-5p	CLIP-seq
MIRT1184652	hsa-miR-4687-3p	CLIP-seq
MIRT2053559	hsa-miR-4697-3p	CLIP-seq
MIRT1184660	hsa-miR-4700-3p	CLIP-seq
MIRT2053560	hsa-miR-4722-5p	CLIP-seq
MIRT1184653	hsa-miR-4724-3p	CLIP-seq
MIRT2053561	hsa-miR-4725-3p	CLIP-seq
MIRT1184654	hsa-miR-4741	CLIP-seq
MIRT2053562	hsa-miR-4747-5p	CLIP-seq
MIRT1184655	hsa-miR-488	CLIP-seq
MIRT2053563	hsa-miR-541	CLIP-seq
MIRT1184656	hsa-miR-558	CLIP-seq
MIRT2053564	hsa-miR-575	CLIP-seq
MIRT2053565	hsa-miR-654-5p	CLIP-seq
MIRT1184657	hsa-miR-661	CLIP-seq
MIRT1184640	hsa-miR-1179	CLIP-seq
MIRT1184644	hsa-miR-22	CLIP-seq
MIRT2053557	hsa-miR-4646-5p	CLIP-seq
MIRT1184656	hsa-miR-558	CLIP-seq
MIRT1184640	hsa-miR-1179	CLIP-seq
MIRT1184641	hsa-miR-1254	CLIP-seq
MIRT2053544	hsa-miR-1293	CLIP-seq
MIRT2053545	hsa-miR-2110	CLIP-seq
MIRT1184644	hsa-miR-22	CLIP-seq
MIRT1184645	hsa-miR-3116	CLIP-seq
MIRT2053547	hsa-miR-3150a-3p	CLIP-seq
MIRT2053548	hsa-miR-3185	CLIP-seq
MIRT2053549	hsa-miR-3189-3p	CLIP-seq
MIRT2053550	hsa-miR-4271	CLIP-seq
MIRT2053551	hsa-miR-4302	CLIP-seq
MIRT2053552	hsa-miR-4312	CLIP-seq
MIRT1184648	hsa-miR-4446-3p	CLIP-seq
MIRT2053554	hsa-miR-4459	CLIP-seq
MIRT2053555	hsa-miR-4471	CLIP-seq
MIRT2053556	hsa-miR-4483	CLIP-seq
MIRT2053557	hsa-miR-4646-5p	CLIP-seq
MIRT1184651	hsa-miR-4675	CLIP-seq
MIRT2053558	hsa-miR-4676-5p	CLIP-seq
MIRT1184652	hsa-miR-4687-3p	CLIP-seq
MIRT2053559	hsa-miR-4697-3p	CLIP-seq
MIRT2053560	hsa-miR-4722-5p	CLIP-seq
MIRT2053561	hsa-miR-4725-3p	CLIP-seq
MIRT1184654	hsa-miR-4741	CLIP-seq
MIRT2053562	hsa-miR-4747-5p	CLIP-seq
MIRT1184655	hsa-miR-488	CLIP-seq
MIRT2053563	hsa-miR-541	CLIP-seq
MIRT1184656	hsa-miR-558	CLIP-seq
MIRT2053564	hsa-miR-575	CLIP-seq
MIRT2053565	hsa-miR-654-5p	CLIP-seq
MIRT1184657	hsa-miR-661	CLIP-seq
MIRT2053557	hsa-miR-4646-5p	CLIP-seq

Gene ontology (GO)

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
GO:0003730	Function	MRNA 3'-UTR binding	IEA
GO:0005515	Function	Protein binding	IPI	23685356, 25416956, 25910212, 30021884, 31515488, 32296183, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005697	Component	Telomerase holoenzyme complex	IDA	18082603, 29695869
GO:0005697	Component	Telomerase holoenzyme complex	NAS	20351177
GO:0005697	Component	Telomerase holoenzyme complex	TAS	20351177, 22527283
GO:0005730	Component	Nucleolus	IEA
GO:0005732	Component	Sno(s)RNA-containing ribonucleoprotein complex	ISS
GO:0006364	Process	RRNA processing	IEA
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869
GO:0007004	Process	Telomere maintenance via telomerase	NAS	20351177
GO:0007004	Process	Telomere maintenance via telomerase	TAS	22527283
GO:0015030	Component	Cajal body	IEA
GO:0031118	Process	RRNA pseudouridine synthesis	IBA
GO:0031118	Process	RRNA pseudouridine synthesis	ISS
GO:0031120	Process	SnRNA pseudouridine synthesis	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IDA	18082603
GO:0031429	Component	Box H/ACA snoRNP complex	IEA
GO:0031429	Component	Box H/ACA snoRNP complex	TAS	22527283
GO:0034511	Function	U3 snoRNA binding	IEA
GO:0034513	Function	Box H/ACA snoRNA binding	IBA
GO:0034513	Function	Box H/ACA snoRNA binding	IPI	18082603
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0070034	Function	Telomerase RNA binding	IPI	18082603, 20351177, 22527283
GO:0072589	Component	Box H/ACA scaRNP complex	TAS	22527283
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	18082603
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:0090671	Process	Telomerase RNA localization to Cajal body	HMP	25467444
GO:1990904	Component	Ribonucleoprotein complex	IEA

Other IDs

• MIM: 606470
• HGNC: 14377
• e!Ensembl: ENSG00000145912

Protein

• UniProt ID: 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:

  MTKIKADPDGPEAQAEACSGERTYQELLVNQNPIAQPLASRRLTRKLYKCIKKAVKQKQI
  RRGVKEVQKFVNKGEKGIMVLAGDTLPIEVYCHLPVMCEDRNLPYVYIPSKTDLGAAAGS
  KRPTCVIMVKPHEEYQEAYDECLEEVQSLPLPL

• Sequence length: 153

Pathways

KEGG:

Ribosome biogenesis in eukaryotes

Reactome:

Telomere Extension By Telomerase
rRNA modification in the nucleus and cytosol

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Dyskeratosis congenita, autosomal recessive 1	Pathogenic	rs121908089, rs121908090, rs121908091	RCV000032277 RCV000032276 RCV000032278
Dyskeratosis congenita, autosomal recessive 2	Pathogenic	rs121908089, rs121908090, rs121908091	RCV000004501 RCV000004502 RCV000004503

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Dyskeratosis congenita	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs1214412834, rs780613876, rs780696831, rs772671488, rs567317314, rs376220034, rs764657822, rs764940566, rs543057099, rs202078932, rs1296058145, rs542745432, rs760076146, rs752392516, rs1401974529, rs1373808491, rs761328868, rs1341101133, rs766032992, rs2113476542, rs1561645171, rs746472214, rs2113475874, rs750874926, rs779452625, rs2113476075, rs2113476084, rs1426285845, rs143501297, rs121908091, rs2113463207, rs373176167, rs925125777, rs202050768, rs1178370439, rs1491337170, rs1028921372, rs766892858, rs2113476424, rs774227396, rs2113463130, rs201274409, rs754228756, rs1756216301, rs777793268, rs1244247196, rs201653595, rs377700562, rs2480691159, rs1756334230, rs41285577, rs905308939, rs370656580, rs1756335934, rs369560609, rs1175039504, rs768764529, rs2480690986, rs1439042075, rs1756325819, rs1477850226, rs1756331045, rs1419452406, rs755971433, rs771358605, rs763168500, rs2480690952, rs1756212306, rs1382630853, rs2480691208, rs2480692557, rs559884313, rs2480692143, rs2480684111, rs377450193, rs2480691009, rs747921841, rs1299133481, rs769481025, rs762870297, rs1415229404, rs747423117, rs762055116, rs146308308, rs1417164552, rs2480675453, rs2480691705, rs2480683596, rs759145032, rs115334254, rs145890370, rs148179279, rs1159974294, rs2480691575, rs752287468, rs2480691698, rs774773530, rs1482575448, rs2480691048, rs761268154, rs1211703130, rs1756218738, rs572960228, rs79031130, rs2480692060, rs2480683212, rs2480684050, rs2480692532, rs1756261161, rs749322394, rs2480684095, rs2480691212, rs751572936, rs2480692597, rs548200272, rs1561645299, rs1475863017, rs1383213989, rs2480692608, rs562083385, rs776184946, rs202221169, rs139588879, rs375285426, rs756638436, rs201390429, rs1333837047, rs1561644268, rs755460344, rs200150979, rs147530082, rs372840247, rs754436041, rs1348885486, rs1196159721, rs1581138326, rs1581137979, rs575702154, rs1756214889, rs768262654, rs201129701, rs769920343, rs773420072, rs1756327381, rs1756333644, rs757358075, rs1756326801, rs146766601, rs1756325870, rs1756332858, rs1439650238, rs757655789, rs762821341, rs769331750, rs1467408923	RCV001326399 RCV001338851 RCV001373188 RCV001365208 RCV001393514 RCV001412522 RCV001404378 RCV001503595 RCV001489557 RCV001505714 RCV003645888 RCV001513012 RCV001932376 RCV001962677 RCV001966103 RCV001949801 RCV001953186 RCV001956022 RCV001940516 RCV001980050 RCV001958930 RCV002048695 RCV001903015 RCV001988203 RCV001877746 RCV001948179 RCV002041964 RCV001908959 RCV002038119 RCV001944188 RCV001958344 RCV002166289 RCV002103177 RCV002153188 RCV002200870 RCV002160182 RCV002146083 RCV002148804 RCV002132589 RCV002110784 RCV002071415 RCV002190022 RCV002155095 RCV002143754 RCV002159638 RCV002186449 RCV002157418 RCV002152214 RCV002097463 RCV002258403 RCV002296716 RCV003074083 RCV003060691 RCV003063440 RCV003081177 RCV003086212 RCV003070506 RCV003088134 RCV002581789 RCV003092494 RCV002599623 RCV002636570 RCV002605899 RCV002638039 RCV002632704 RCV002575133 RCV002592713 RCV002625703 RCV002658619 RCV002751155 RCV002771588 RCV002815700 RCV002791175 RCV002876024 RCV002895285 RCV002913282 RCV002919139 RCV002937070 RCV002942103 RCV002904199 RCV002914888 RCV002966452 RCV002962395 RCV002953836 RCV002948132 RCV002998933 RCV002999621 RCV003006156 RCV003017312 RCV003056396 RCV004124273 RCV000231896 RCV000229113 RCV001080156 RCV000231151 RCV001510662 RCV004355604 RCV003530581 RCV003530641 RCV003530868 RCV003530834 RCV003530861 RCV003530853 RCV003530906 RCV003531040 RCV003531253 RCV003646077 RCV002061278 RCV000704479 RCV001522450 RCV000469686 RCV003646441 RCV003646421 RCV003646727 RCV003646820 RCV003646807 RCV003646873 RCV003646859 RCV003646940 RCV003647030 RCV003647058 RCV003647115 RCV003647167 RCV003647224 RCV003647227 RCV003647240 RCV003835693 RCV003843806 RCV003881198 RCV004490641 RCV000465594 RCV000457712 RCV000548521 RCV003530056 RCV000540738 RCV000634492 RCV000634489 RCV000699139 RCV000694524 RCV000704403 RCV000691579 RCV000797555 RCV000818183 RCV000822906 RCV000803057 RCV000799213 RCV000799779 RCV002064730 RCV001059636 RCV001042515 RCV001060138 RCV001047093 RCV001043513 RCV001063009 RCV001065496 RCV001039524 RCV001216389 RCV001202600 RCV001211980 RCV001203755 RCV001234099 RCV001248408 RCV001239867 RCV001243412 RCV005682561
Dyskeratosis Congenita, Recessive	Conflicting classifications of pathogenicity	rs572960228	RCV000366750
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	rs572960228	RCV005869358
Gastric cancer	Benign	rs7446073	RCV005921511
Hepatocellular carcinoma	Benign	rs7446073	RCV005921508
Lung cancer	Likely benign; Benign	rs77853993, rs7446073	RCV005914983 RCV005921513
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	rs572960228	RCV005869359
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs7446073, rs572960228	RCV005921509 RCV005869357
NHP2-related disorder	Likely benign; Benign; Conflicting classifications of pathogenicity	rs376220034, rs764940566, rs543057099, rs145890370, rs139588879, rs375285426	RCV003938704 RCV003921058 RCV003948430 RCV003939881 RCV003972482 RCV003925382 RCV004758027
Sarcoma	Benign	rs7446073	RCV005921510
Uterine carcinosarcoma	Benign	rs7446073	RCV005921512

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Kidney Injury	Associate	30074154
Aging Premature	Associate	18523010, 37440454
Bone Marrow Failure Disorders	Associate	37440454
Colorectal Neoplasms	Associate	34129943
Depression Postpartum	Associate	34856750
Dyskeratosis Congenita	Associate	18523010, 19036115, 30728146
Dyskeratosis Congenita Autosomal Recessive	Associate	18523010
Endometrial Neoplasms	Associate	35054812
Leukemia Lymphocytic Chronic B Cell	Associate	28666010
Myelodysplastic Syndromes	Associate	37440454
Neoplasms	Associate	34129943
Stomach Neoplasms	Associate	37440454
Telomeric 22q13 Monosomy Syndrome	Associate	37440454