Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55651
Gene name Gene Name - the full gene name approved by the HGNC.	NHP2 ribonucleoprotein
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	NHP2
Synonyms (NCBI Gene) Gene synonyms aliases	DKCB2, NHP2P, NOLA2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(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
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

Show/Hide all(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
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

MIM	HGNC	e!Ensembl
606470	14377	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

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dyskeratosis Congenita	dyskeratosis congenita, autosomal recessive 2, dyskeratosis congenita, autosomal recessive 1	rs121908091, rs121908089, rs121908090	N/A

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

NHP2 (NHP2 ribonucleoprotein)