NHP2 NHP2 ribonucleoprotein [Homo sapiens (human)] - Gene

Summary

Official Symbol: NHP2provided by HGNC
Official Full Name: NHP2 ribonucleoproteinprovided by HGNC
Primary source: HGNC:HGNC:14377
See related: Ensembl:ENSG00000145912 MIM:606470; AllianceGenome:HGNC:14377
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DKCB2; NHP2P; NOLA2
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 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]
Expression: Ubiquitous expression in esophagus (RPKM 36.2), brain (RPKM 32.1) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.3

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (178149463..178153885, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (178699722..178704144, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (177576464..177580886, complement)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2.
Title: A novel mutation (p.Y24N) in NHP2 leads to idiopathic pulmonary fibrosis and lung carcinoma chronic obstructive lung disease by disrupting the expression and nucleocytoplasmic localization of NHP2.
NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres.
Title: NHP2 downregulation counteracts hTR-mediated activation of the DNA damage response at ALT telomeres.
NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Hoyeraal-Hreidarsson syndrome.
Title: NHP2 deficiency impairs rRNA biogenesis and causes pulmonary fibrosis and Høyeraal-Hreidarsson syndrome.
In this work, we have uncovered a putative role of epigenetic regulation in a subset of human snoRNP complexes that are involved in the site-specific modification of RNA. We find that a subset of box C/D snoRNAs are methylated at the 1n position and that this blocks both 15.5k binding and the formation of the kinked conformation in vivo.
Title: Control of box C/D snoRNP assembly by N(6)-methylation of adenine.
Indian aplastic anemia patients did not have NHP2 mutations.
Title: Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study.
Effects of dyskeratosis congenita mutations in NHP2 on assembly of H/ACA pre-RNPs
Title: Effects of dyskeratosis congenita mutations in dyskerin, NHP2 and NOP10 on assembly of H/ACA pre-RNPs.
The analysis of two other proteins, NHP2 and GAR1, that together with dyskerin and NOP10 are key components of telomerase and small nucleolar ribonucleoprotein (snoRNP) complexes, is described.
Title: Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia.
NOLA2 expression in patients with squamous cell lung cancer increased by 70% which makes it a highly informative marker of squamous cell lung cancer
Title: [The NOLA2 and RPS3A genes as highly informative markers for human squamous cell lung cancer].

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Dyskeratosis congenita, autosomal recessive 1 MedGen: C1857144 OMIM: 224230 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs
Dyskeratosis congenita, autosomal recessive 2 MedGen: C3151441 OMIM: 613987 GeneReviews: Dyskeratosis Congenita and Related Telomere Biology Disorders	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
retropepsin	gag-pol	Positional proteomics analysis identifies the cleavage of human NHP2 ribonucleoprotein homolog (yeast) (NHP2) at amino acid residues 27-28 by the HIV-1 protease	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12541 (e-PCR)
- UniSTS:85571

PMC86556P1 (e-PCR)
- UniSTS:273532

A006X22 (e-PCR)
- UniSTS:8600

A008D19 (e-PCR)
- UniSTS:35503

RH98314 (e-PCR)
- UniSTS:89574

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables U3 snoRNA binding	IEA Inferred from Electronic Annotation more info
enables box H/ACA snoRNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables box H/ACA snoRNA binding	IPI Inferred from Physical Interaction more info	PubMed
enables mRNA 3'-UTR binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables telomerase RNA binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in rRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in rRNA pseudouridine synthesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in snRNA pseudouridine synthesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in snoRNA guided rRNA pseudouridine synthesis	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within telomerase RNA localization to Cajal body	HMP more info	PubMed
involved_in telomere maintenance via telomerase	IDA Inferred from Direct Assay more info	PubMed
involved_in telomere maintenance via telomerase	NAS Non-traceable Author Statement more info	PubMed
involved_in telomere maintenance via telomerase	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
part_of box H/ACA scaRNP complex	TAS Traceable Author Statement more info	PubMed
part_of box H/ACA snoRNP complex	IBA Inferred from Biological aspect of Ancestor more info
part_of box H/ACA snoRNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of box H/ACA snoRNP complex	TAS Traceable Author Statement more info	PubMed
part_of box H/ACA telomerase RNP complex	IDA Inferred from Direct Assay more info	PubMed
part_of box H/ACA telomerase RNP complex	TAS Traceable Author Statement more info	PubMed
located_in chromosome, telomeric region	HDA more info	PubMed
located_in nucleoplasm	TAS Traceable Author Statement more info
part_of sno(s)RNA-containing ribonucleoprotein complex	ISS Inferred from Sequence or Structural Similarity more info
part_of telomerase holoenzyme complex	IDA Inferred from Direct Assay more info	PubMed
part_of telomerase holoenzyme complex	NAS Non-traceable Author Statement more info	PubMed
part_of telomerase holoenzyme complex	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: H/ACA ribonucleoprotein complex subunit 2

Names: NHP2 ribonucleoprotein homolog; NHP2-like protein; nucleolar protein family A, member 2 (H/ACA small nucleolar RNPs); snoRNP protein NHP2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_011765.1 RefSeqGene

Range

5001..9498

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_346

mRNA and Protein(s)

NM_001034833.2 → NP_001030005.1 H/ACA ribonucleoprotein complex subunit 2 isoform b

See identical proteins and their annotated locations for NP_001030005.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate coding exon compared to variant 1, that causes a frameshift. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.

Source sequence(s)

AJ293309, BG827491, BM913344

Consensus CDS

CCDS34308.1

UniProtKB/TrEMBL

J3QSY4

Related

ENSP00000366276.2, ENST00000314397.9

Conserved Domains (1) summary

cd21104
Location:32 → 74

SNU13; U4/U6.U5 small nuclear ribonucleoprotein SNU13
NM_001396110.1 → NP_001383039.1 H/ACA ribonucleoprotein complex subunit 2 isoform c

Status: REVIEWED

Source sequence(s)

AC136632

UniProtKB/TrEMBL

D6RCB9

Related

ENSP00000423803.1, ENST00000514354.5

Conserved Domains (1) summary

COG1358
Location:34 → 111

Rpl7Ae; Ribosomal protein L7Ae or related RNA K-turn-binding protein [Translation, ribosomal structure and biogenesis]
NM_017838.4 → NP_060308.1 H/ACA ribonucleoprotein complex subunit 2 isoform a

See identical proteins and their annotated locations for NP_060308.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer protein (isoform a).

Source sequence(s)

AJ293309, BC000009, BE797477

Consensus CDS

CCDS4432.1

UniProtKB/Swiss-Prot

A6NKY8, Q9NX24, Q9P095

Related

ENSP00000274606.4, ENST00000274606.8

Conserved Domains (1) summary

cd21104
Location:32 → 130

SNU13; U4/U6.U5 small nuclear ribonucleoprotein SNU13