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Sap130 Gene Detail
Summary
  • Symbol
    Sap130
  • Name
    Sin3A associated protein
  • Synonyms
    2610304F09Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1919782
    NCBI Gene: 269003
  • Gene Overview
    MyGene.info: SAP130
Location & Maps
more
  • Sequence Map
    Chr18:31634371-31723061 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      88691 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 17.81 cM, cytoband B2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    SAP130, Sin3A associated protein 130
  • Vertebrate Orthologs
    10
  • Human Ortholog
    SAP130, Sin3A associated protein 130
    Orthology source: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 79595
    neXtProt AC: NX_Q9H0E3

  • Chr Location
    2q14.3; chr2:127941217-128028093 (-)  GRCh38.p2

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    14 phenotypes from 2 alleles in 2 genetic backgrounds
    10 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
    20
  • Gene trapped
    17
  • Targeted
    2
  • Transposon induced
    1
  • Incidental Mutations
Mice homozygous for a transposon insertion are viable and fertile.
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 ENSMUSG00000024260 Ensembl Gene Model | MGI Sequence Detail 88691 C57BL/6J ±  kb
transcript ENSMUST00000178164 Ensembl | MGI Sequence Detail 4030 Not Applicable  
polypeptide ENSMUSP00000136842 Ensembl | MGI Sequence Detail 1057 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    494 from dbSNP Build 142
Protein
Information
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  • UniProt
    3 Sequences
  • Protein Ontology
    PR:000014445 histone deacetylase complex subunit SAP130
  • InterPro Domains
    IPR024137 Histone deacetylase complex subunit SAP130
    IPR031963 Histone deacetylase complex subunit SAP130, C-terminal domain
Molecular
Reagents
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  • All nucleic 47
    cDNA 47

    Microarray probesets 3
References
more
  • Summaries
    All 32
    Gene Ontology 5
    Phenotypes 10
  • 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:178818 Wang B, et al., Transposon mutagenesis with coat color genotyping identifies an essential role for Skor2 in sonic hedgehog signaling and cerebellum development. Development. 2011 Oct;138(20):4487-97

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
08/17/2016
MGI 6.05
The Jackson Laboratory