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Nhp2 Gene Detail
Summary
  • Symbol
    Nhp2
  • Name
    NHP2 ribonucleoprotein
  • Synonyms
    2410130M07Rik, D11Ertd175e, H/ACA small nucleolar RNPs, NHP2, Nola2
  • Feature Type
    protein coding gene
  • IDs
    MGI:1098547
    NCBI Gene: 52530
  • Gene Overview
    MyGene.info: NHP2
Location & Maps
more
  • Sequence Map
    Chr11:51619735-51623714 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3980 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 31.14 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NHP2, NHP2 ribonucleoprotein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NHP2, NHP2 ribonucleoprotein
    Orthology source: HomoloGene
  • Synonyms
    DKCB2, NHP2P, NOLA2
  • Links
    NCBI Gene ID: 55651
    neXtProt AC: NX_Q9NX24

  • Chr Location
    5q35.3; chr5:178149463-178153960 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human NHP2 associations

Human Disease Mouse Models
       Dyskeratosis Congenita, Autosomal Recessive 1; DKCB1   OMIM: 224230
Dyskeratosis Congenita, Autosomal Recessive 2; DKCB2   OMIM: 613987
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 2 genetic backgrounds
    11 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    37
  • Chemically induced (other)
    1
  • Gene trapped
    34
  • Targeted
    2
  • Genomic Mutations
    1 involving Nhp2
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005610 VEGA Gene Model | MGI Sequence Detail 3980 C57BL/6J ±  kb
transcript OTTMUST00000012482 VEGA | MGI Sequence Detail 1042 Not Applicable  
polypeptide OTTMUSP00000005780 VEGA | MGI Sequence Detail 153 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    46 from dbSNP Build 142
Protein
Information
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  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000011202 H/ACA ribonucleoprotein complex subunit 2
  • InterPro Domains
    IPR029064 50S ribosomal protein L30e-like
    IPR002415 H/ACA ribonucleoprotein complex, subunit Nhp2, eukaryote
    IPR004038 Ribosomal protein L7Ae/L30e/S12e/Gadd45
    IPR018492 Ribosomal protein L7Ae/L8/Nhp2 family
Molecular
Reagents
less
  • All nucleic 95
    cDNA 94
    Primer pair 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1915487
References
more
  • Summaries
    All 36
    Developmental Gene Expression 2
    Gene Ontology 5
    Phenotypes 11
  • Earliest
    J:60984 Ko MS, et al., Large-scale cDNA analysis reveals phased gene expression patterns during preimplantation mouse development. Development. 2000 Apr;127(8):1737-49
  • Latest
    J:199000 Kappei D, et al., HOT1 is a mammalian direct telomere repeat-binding protein contributing to telomerase recruitment. EMBO J. 2013 Jun 12;32(12):1681-701

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory