NHP2

Protein identityUniProt · HPA

UniProt accession

Q9NX24

Gene

NHP2

Ensembl

ENSG00000145912

Chromosome

5

Canonical length

153 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Ribosomal proteins

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

153 residues, UniProt reviewed canonical sequence.

>Q9NX24|NHP2
     1  MTKIKADPDG PEAQAEACSG ERTYQELLVN QNPIAQPLAS RRLTRKLYKC IKKAVKQKQI
    61  RRGVKEVQKF VNKGEKGIMV LAGDTLPIEV YCHLPVMCED RNLPYVYIPS KTDLGAAAGS
   121  KRPTCVIMVK PHEEYQEAYD ECLEEVQSLP LPL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against NHP2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.35

Highest tissue expression

197 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about NHP2.

Disease | AllUniProt

Conditions NHP2 is implicated in, by any mechanism.

• Dyskeratosis congenita, autosomal recessive, 2 (DKCB2) MIM:613987

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 221 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Dyskeratosis congenita, autosomal recessive 2
• Dyskeratosis congenita, autosomal recessive 1

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.08

gnomAD pLI

0.05

gnomAD missense Z

0.04

DepMap mean gene effect

-0.73

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• rRNA pseudouridine synthesis
• snoRNA guided rRNA pseudouridine synthesis
• snRNA pseudouridine synthesis
• telomerase RNA localization to Cajal body
• telomere maintenance via telomerase

Molecular functions

• box H/ACA snoRNA binding
• mRNA 3'-UTR binding
• RNA binding
• telomerase RNA binding
• U3 snoRNA binding

Cellular components

• box H/ACA scaRNP complex
• box H/ACA snoRNP complex
• box H/ACA telomerase RNP complex
• chromosome, telomeric region
• nucleoplasm
• sno(s)RNA-containing ribonucleoprotein complex
• telomerase holoenzyme complex

Protein domainsUniProt · Pfam · InterPro

• H/ACA ribonucleoprotein complex, subunit Nhp2-like
• Ribosomal protein eL8/eL30/eS12/Gadd45
• Ribosomal protein eL8/Nhp2 family
• Ribosomal protein eL30-like superfamily
• Large ribosomal subunit protein eL8/uL1-like
• Ribosomal protein L7Ae/L30e/S12e/Gadd45 family

KeywordsUniProt

• Dyskeratosis congenita
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Ribonucleoprotein
• Ribosome biogenesis
• RNA-binding
• rRNA processing
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of NHP2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• TERC
• DKC1
• NOP10