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Ssu2 Gene Detail
Summary
  • Symbol
    Ssu2
  • Name
    ssu-2 homolog (C. elegans)
  • Synonyms
    D630042P16Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2443733
    NCBI Gene: 243612
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr6:112359324-112388023 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28700 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 52.20 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SSUH2, ssu-2 homolog (C. elegans)
  • Vertebrate Orthologs
    12
  • Human Ortholog
    SSUH2, ssu-2 homolog (C. elegans)
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C3orf32, fls485, SSU-2
  • Links
    NCBI Gene ID: 51066
    neXtProt AC: NX_Q9Y2M2
    UniProt: Q9Y2M2

  • Chr Location
    3p25.3; chr3:8619400-8745035 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ssu2 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    8 phenotypes from 1 allele in 1 genetic background
    5 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.
Mice heterozygous or homozygous for a knock-in allele exhibit abnormal tooth morphology, narrowed pulp cavity, increased dentin thickness, abnormal tooth attrition and collagenous attachment to the gum.
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 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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000027023 VEGA Gene Model | MGI Sequence Detail 28700 C57BL/6J ±  kb
    transcript OTTMUST00000066799 VEGA | MGI Sequence Detail 1321 Not Applicable  
    polypeptide OTTMUSP00000033526 VEGA | MGI Sequence Detail 340 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      197 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • InterPro Domains
      IPR001305 Heat shock protein DnaJ, cysteine-rich domain
      IPR036410 Heat shock protein DnaJ, cysteine-rich domain superfamily
      IPR033271 Protein SSUH2 homologue
    Molecular
    Reagents
    less
    • All nucleic 7
      cDNA 6
      Primer pair 1

      Microarray probesets 2
    References
    more
    • Summaries
      All 22
      Developmental Gene Expression 1
      Diseases 1
      Gene Ontology 3
      Phenotypes 5
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:240559 Xiong F, et al., Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017 Jan;38(1):95-104

    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
    07/10/2018
    MGI 6.12
    The Jackson Laboratory