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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

NHP2 Gene

protein-coding GIFtS: 59
GCID: GC05M177510

NHP2 ribonucleoprotein

(Previous names: nucleolar protein family A, member 2 (H/ACA small nucleolar...)
(Previous symbol: NOLA2)

Explore 12 diseases affiliated with
NHP2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
NHP2 Ribonucleoprotein¹ ²		DKCB2²
NOLA2¹ ² ³ ⁵		NHP2P²
Nucleolar Protein Family A, Member 2 (H/ACA Small Nucleolar RNPs)¹ ²		H/ACA Ribonucleoprotein Complex Subunit 2²
SnoRNP Protein NHP2² ³		NHP2 Ribonucleoprotein Homolog²
FLJ20479¹		NHP2-Like Protein²
NHP2 Ribonucleoprotein Homolog (Yeast)¹		Nucleolar Protein Family A Member 2³

External Ids:	HGNC: 14377¹	Entrez Gene: 55651²	Ensembl: ENSG00000145912⁷	OMIM: 606470⁵	UniProtKB: Q9NX24³

Export aliases for NHP2 gene to outside databases

Previous GC identifer: GC05M172302

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for NHP2:

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 include the DKC1, NOLA1 and NOLA3 proteins. These four H/ACA snoRNP proteins localize to the dense

fibrillar components of nucleoli and to coiled (Cajal) bodies in the nucleus. Both 18S rRNA production and rRNA

pseudouridylation are impaired if any one of the four proteins is depleted. The four H/ACA snoRNP proteins are also

components of the telomerase complex. This gene encodes a protein related to Saccharomyces cerevisiae Nhp2p.

Alternative splicing results in multiple transcript variants. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24

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 subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to

100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for

correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase

(TERT) holoenzyme

Gene Wiki entry for NHP2 (NOLA2)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the NHP2 gene promoter:
AhR USF1 Pax-5 Arnt C/EBPalpha CREB CHOP-10 USF-1 deltaCREB ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NHP2 promoter sequence

Search SABiosciences Chromatin IP Primers for NHP2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NHP2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q35.3 Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q35.3

NHP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NHP2 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M177510: view genomic region (about GC identifiers)

Start:	177,576,461 bp from pter	End:	177,580,968 bp from pter
Size:	4,508 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24 (See protein sequence)

Recommended Name: H/ACA ribonucleoprotein complex subunit 2

Size: 153 amino acids; 17201 Da

Subunit: Part of the H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which contains NHP2/NOLA2,

GAR1/NOLA1, NOP10/NOLA3, and DKC1/NOLA4, which is presumed to be the catalytic subunit. The complex contains a stable

core formed by binding of one or two NOP10-DKC1 heterodimers to NHP2; GAR1 subsequently binds to this core via DKC1.

The complex binds a box H/ACA small nucleolar RNA (snoRNA), which may target the specific site of modification within

the RNA substrate. During assembly, the complex contains NAF1 instead of GAR1/NOLA1. The complex also interacts with

TERC, which contains a 3'-terminal domain related to the box H/ACA snoRNAs. Specific interactions with snoRNAs or TERC

are mediated by GAR1 and NHP2. Associates with NOLC1/NOPP140. H/ACA snoRNPs interact with the SMN complex, consisting

of SMN1 or SMN2, GEMIN2/SIP1, DDX20/GEMIN3, and GEMIN4. This is mediated by interaction between GAR1 and SMN1 or SMN2.

The SMN complex may be required for correct assembly of the H/ACA snoRNP complex. Component of the telomerase

holoenzyme complex at least composed of TERT, DKC1, WRAP53/TCAB1, NOP10, NHP2, GAR1, TEP1, EST1A, POT1 and a

telomerase RNA template component (TERC)

Subcellular location: Nucleus, nucleolus. Nucleus, Cajal body. Note=Also localized to Cajal bodies (coiled bodies)

Developmental stage: Transcript peaks at G1/S transition

Sequence caution: Sequence=AAF28964.1; Type=Frameshift; Positions=37, 119, 120;

Secondary accessions: A6NKY8 Q9P095

Explore the universe of human proteins at neXtProt for NHP2: NX_Q9NX24

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9NX24

NHP2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001030005.1 NP_060308.1

ENSEMBL proteins:

ENSP00000274606 ENSP00000366276 ENSP00000431126 ENSP00000423803 ENSP00000423849

Human Recombinant Protein Products for NHP2:

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	Novus Biologicals NHP2 Proteins Novus Biologicals NHP2 Lysate
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	ProSpec Recombinant Protein for NHP2
	Uscn Proteins for NHP2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005730	nucleolus	IEA	--
GO:0005732	small nucleolar ribonucleoprotein complex	ISS	--
GO:0015030	Cajal body	IEA	--

NHP2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for NHP2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

NHP2 for domains About GeneDecksing

3 InterPro domains/families:

IPR018492 Ribosomal_L7Ae/L8/Nhp2

IPR004038 Ribosomal_L7Ae/L30e/S12e/Gad45

IPR002415 H/ACA_rnp_Nhp2_euk

Graphical View of Domain Structure for InterPro Entry Q9NX24

ProtoNet protein and cluster: Q9NX24

2 Blocks protein families:

IPB002415 High mobility group-like nuclear protein signature

IPB004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45

UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24

Similarity: Belongs to the ribosomal protein L7Ae family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: NHP2_HUMAN, Q9NX24

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 subsequently attached to C5, instead of the normal N1. Each rRNA can contain up to

100 pseudouridine ("psi") residues, which may serve to stabilize the conformation of rRNAs. May also be required for

correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase

(TERT) holoenzyme

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	--	--
GO:0030515	snoRNA binding	ISS	--

NHP2 for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for NHP2:

G0/1 arrest

Increased G1 DNA content

Increased circadian period len

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Nhp2):

mortality/aging

NHP2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NHP2

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NHP2 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHP2
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate NHP2:
		hsa-miR-22 hsa-miR-661 hsa-miR-558
		SwitchGear 3'UTR luciferase reporter plasmid: NHP2 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NHP2 (see all 4) OriGene shRNA RFP: NHP2 OriGene siRNA: NHP2
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NHP2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ribosome biogenesis in eukaryotes

Ribosome biogenesis in eukaryotes

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for NHP2):

Ribosome biogenesis in eukaryotes

NHP2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for NHP2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/107 Interacting proteins for NHP2 (Q9NX24³ ENSP00000274606⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 107)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0031118	rRNA pseudouridine synthesis	ISS	--

NHP2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

NHP2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for NHP2
1 Novoseek chemical compound relationship for NHP2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pseudouridine	71.7	2	17412831 (1), 16373493 (1)

Search CenterWatch for drugs/clinical trials and news about NHP2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for NHP2 gene (2 alternative transcripts):

NM_001034833.1 NM_017838.3

Unigene Cluster for NHP2:

NHP2 ribonucleoprotein

Hs.744074 [show with all ESTs]

Unigene Representative Sequence: BQ642604

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000274606(uc003mir.2 uc003mis.2) ENST00000314397 ENST00000502263

ENST00000514354 ENST00000511078 ENST00000510363

miRNA Products:		OriGene 3'-UTR Clone (see all 2): NHP2 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NHP2
		3 QIAGEN miScript miRNA Assays for microRNAs that regulate NHP2:
		hsa-miR-22 hsa-miR-661 hsa-miR-558
		SwitchGear 3'UTR luciferase reporter plasmid: NHP2 3' UTR sequence

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		Sirion Biotech Custom design and validation of potent shRNA sequences against NHP2

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NHP2 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for NHP2 (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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Additional cDNA sequence:

AF161404.1 AF401217.1 AF401219.1 AJ293309.1 AK000486.1 BC000009.2 BC006387.2 CR457238.1

13 DOTS entries:

DT.91847179 DT.448702 DT.120854763 DT.120854707 DT.100640354 DT.120854791 DT.120854728 DT.92441372

DT.100032079 DT.120854731 DT.92441382 DT.95249604 DT.95100110

24/429 AceView cDNA sequences (see all 429):

AW575387 CD671999 AA627891 AI962465 BM011039 BQ631885 AW163328 BM793701

BM693962 BQ428240 CB125846 BE219742 CB105404 BM553420 AI815961 CF129536

BQ877150 BU944722 BE258452 AI870469 CB125274 BM699507 BM126798 CR612055

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for NHP2 About this scheme

ExUns:	1a	·	1b	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b
SP1:							-				-
SP2:							-
SP3:							-		-		-
SP4:

ECgene alternative splicing isoforms for NHP2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

NHP2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGTAATGC

About this image

NHP2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Ventral Foregut Endoderm

Gut Tube

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See NHP2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for NHP2

SOURCE GeneReport for Unigene cluster: Hs.744074

UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24

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

SABiosciences Expression via Pathway-Focused PCR Array including NHP2:

Telomeres & Telomerase in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for NHP2 gene from 10/36 species (see all 36) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Nhp2^{1 , 5}	NHP2 ribonucleoprotein homolog (yeast)^{1, 5}	86.49(n)¹ 89.54(a)¹		11 (31.14 cM)⁵ 52530¹ NM_026631.3¹ NP_080907.1¹ 51619735⁵
chicken (Gallus gallus)	Aves	NHP2¹	NHP2 ribonucleoprotein homolog (yeast)	77.93(n) 78.17(a)		416218 NM_001252144.1 NP_001239073.1
lizard (Anolis carolinensis)	Reptilia	NHP2⁶	--	75(a)	1 ↔ 1	2(146220686-146253912)
African clawed frog (Xenopus laevis)	Amphibia	Xl.23927²	Xenopus laevis transcribed sequence with moderate similarity more	76.08(n)		BJ034839.1
zebrafish (Danio rerio)	Actinopterygii	wufb36b10²	Danio rerio cDNA clone IMAGE5604030, partial cds	75.39(n)		BC051784.1
fruit fly (Drosophila melanogaster)	Insecta	NHP2¹	CG5258-PA	55.34(n) 43.79(a)		44005 NM_143708.2 NP_651965.1
worm (Caenorhabditis elegans)	Secernentea	Y48A6B.3¹	Protein Y48A6B.3	52.13(n) 47.65(a)		176531 NM_067014.4 NP_499415.1
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	NHP2(YDL208W)⁴ NHP2¹	Nuclear protein related to mammalian high mobility more⁴ Nhp2p¹	54.99(n)¹ 54.7(a)¹		4(87512-87982)⁴ 851319^{1, 4} NP_010073.2^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	AT5G08180¹	H/ACA ribonucleoprotein complex subunit 2-like protein	50.69(n) 45.45(a)		830714 NM_001203331.1 NP_001190260.1
rice (Oryza sativa)	Liliopsida	Os06g0274200¹	hypothetical protein	51.75(n) 46.49(a)		4340741 NM_001063909.1 NP_001057374.1

ENSEMBL Gene Tree for NHP2 (if available)
TreeFam Gene Tree for NHP2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for NHP2 gene

1 SIMAP similar gene for NHP2 using alignment to 5 protein entries: NHP2_HUMAN (see all proteins):

NHP2L1

NHP2 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for NHP2
PGOHUM00000233158

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121908091^1,2	C	pathogenic	172302685(-)	`CCCTAA/TGAGGG`	3	R *	stop-lostut3¹		0	--	--	--	--
rs121908089^1,2	C	pathogenic	172302730(-)	`AGGCTC/TACGAT`	3	H Y	mis¹ ut3¹		0	--	--	--	--
rs121908090^1,2	C	pathogenic	172302769(-)	`CCTGTA/GTGATA`	4	M V	mis¹ syn¹		0	--	--	--	--
rs113977427^1,2		--	172302075(+)	`GTGTGG/CGTGGG`	2	--	ds500¹		1		CSA	2
rs76985343^1,2	F	--	172302235(+)	`GGAGTT/CGAAAA`	2	--	ds500¹		1		WA	118
rs62392211^1,2	C	--	172303272(+)	`CCAAAC/TGGTAA`	2	--	int¹		2		NA	122
rs58184119^1,2	C,F	--	172303453(+)	`TCAAGT/AGATCT`	2	--	int¹		3		WA CSA	122
rs59721371^1,2		--	172303548(+)	`GAGTCC/TCACTT`	2	--	int¹		0	--	--	--	--
rs77853993^1,2	C,F	--	172304191(+)	`TCTCTT/CTGGAG`	2	--	int¹		1		WA	118
rs116097781^1,2	C,F	--	172304539(+)	`ACAGGC/TGGACA`	2	--	int¹		1		WA	118

HapMap Linkage Disequilibrium report for NHP2 (177576461 - 177580968 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for NHP2: --
Human Gene Mutation Database (HGMD): NHP2

Locus Specific Mutation Databases (LSDB): NHP2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NHP2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

NHP2 for disorders           About GeneDecksing

OMIM gene information: 606470
OMIM disorders: 224230
UniProtKB/Swiss-Prot: NHP2_HUMAN, Q9NX24

Defects in NHP2 are the cause of dyskeratosis congenita autosomal recessive type 2 (DKCB2) [MIM:613987]. 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

12 diseases for NHP2: About MalaCards

dyskeratosis congenita autosomal recessive dyskeratosis congenita dyskeratosis aplastic anemia

fanconi's anemia leukoplakia anemia osteoporosis

colon cancer lung cancer malaria prostatitis

1 disease from the University of Copenhagen DISEASES database for NHP2:

Dyskeratosis congenita

Human Genome Epidemiology (HuGE) Navigator: NHP2 (2 documents)

Export disorders for NHP2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for NHP2 gene, integrated from 9 sources (see all 50):
(articles sorted by number of sources associating them with NHP2)

Utopia: connect your pdf to the dynamic
world of online information

Human H/ACA small nucleolar RNPs and telomerase share evolutionarily conserved proteins NHP2 and NOP10. (PubMed id 11074001)^{1, 2, 3} Pogacic V.... Filipowicz W. (2000)
Expression of the human homologue of the small nucleolar RNA-binding protein NHP2 gene during monocytic differentiation of U937 cells. (PubMed id 12020816)^{1, 2, 9} Kang H.S.... Kim Y.H. (2002)
Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. (PubMed id 18523010)^{1, 2, 9} Vulliamy T....Dokal I. (2008)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins. (PubMed id 15044956)^{1, 2} Wang C. and Meier U.T. (2004)
Functional proteomic analysis of human nucleolus. (PubMed id 12429849)^{1, 2} Scherl A.... Diaz J.-J. (2002)
Directed proteomic analysis of the human nucleolus. (PubMed id 11790298)^{1, 2} Andersen J.S.... Lamond A.I. (2002)
Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells. (PubMed id 11042152)^{1, 2} Zhang Q.-H.... Chen Z. (2000)
Effects of dyskeratosis congenita mutations in dysker in, NHP2 and NOP10 on assembly of H/ACA pre-RNPs. (PubMed id 20008900)^{1, 9} Trahan C....Dragon F. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 55651	HGNC: 14377	AceView: NOLA2	Ensembl:ENSG00000145912	euGenes: HUgn55651
ECgene: NHP2	Kegg: 55651	H-InvDB: NHP2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for NHP2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for NHP2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for NHP2 gene:
Search GeneIP for patents involving NHP2

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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