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Smcr8 Gene Detail
Summary
  • Symbol
    Smcr8
  • Name
    Smith-Magenis syndrome chromosome region, candidate 8 homolog (human)
  • Synonyms
    2310076G09Rik, D030073L15Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444720
    NCBI Gene: 237782
Location & Maps
more
  • Sequence Map
    Chr11:60777524-60781067 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3544 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.83 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SMCR8, Smith-Magenis syndrome chromosome region, candidate 8
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SMCR8, Smith-Magenis syndrome chromosome region, candidate 8
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 140775
    neXtProt AC: NX_Q8TEV9

  • Chr Location
    17p11.2; chr17:18315280-18328056 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 16989
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: SMCR8
  • Gene Tree
Human Diseases
less
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    18 phenotype references
  • All Mutations and Alleles
    9
  • Chemically induced (other)
    1
  • Gene trapped
    5
  • Targeted
    3
  • Genomic Mutations
    3 involving Smcr8
  • 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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007770 VEGA Gene Model | MGI Sequence Detail 3544 C57BL/6J ±  kb
transcript OTTMUST00000017742 VEGA | MGI Sequence Detail 3544 Not Applicable  
polypeptide OTTMUSP00000008175 VEGA | MGI Sequence Detail 785 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    102 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000015280 Smith-Magenis syndrome chromosomal region candidate gene 8 protein
Molecular
Reagents
less
  • All nucleic 56
    cDNA 56

    Microarray probesets 3
Other
Accession IDs
less
MGI:1916935, MGI:2144244
References
more
  • Summaries
    All 26
    Diseases 2
    Gene Ontology 1
    Phenotypes 18
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

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
09/20/2016
MGI 6.05
The Jackson Laboratory