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E430025E21Rik Gene Detail
Summary
  • Symbol
    E430025E21Rik
  • Name
    RIKEN cDNA E430025E21 gene
  • Synonyms
    mKIAA0196, strumpellin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2146110
    NCBI Gene: 223593
  • Gene Overview
    MyGene.info: KIAA0196
Location & Maps
more
  • Sequence Map
    Chr15:59331998-59374167 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      42170 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 25.17 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    KIAA0196, KIAA0196
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KIAA0196, KIAA0196
    Orthology source: HGNC, HomoloGene
  • Synonyms
    RTSC, RTSC1, SPG8
  • Links
    NCBI Gene ID: 9897
    neXtProt AC: NX_Q12768

  • Chr Location
    8q24.13; chr8:125024260-125091819 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human KIAA0196 associations

Human Disease Mouse Models
       Ritscher-Schinzel Syndrome 1; RTSC1   OMIM: 220210
Spastic Paraplegia 8, Autosomal Dominant; SPG8   OMIM: 603563
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    29 phenotype references
  • All Mutations and Alleles
    12
  • Chemically induced (other)
    3
  • Gene trapped
    4
  • Radiation induced
    2
  • Targeted
    3
  • Genomic Mutations
    5 involving E430025E21Rik
  • Incidental Mutations
Gene Ontology
(GO)
Classifications
less
  • 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
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000022350 Ensembl Gene Model | MGI Sequence Detail 42170 C57BL/6J ±  kb
transcript ENSMUST00000022976 Ensembl | MGI Sequence Detail 4032 Not Applicable  
polypeptide ENSMUSP00000022976 Ensembl | MGI Sequence Detail 1159 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    399 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • InterPro Domains
    IPR019393 WASH complex, subunit strumpellin
Molecular
Reagents
less
  • All nucleic 205
    cDNA 205

    Microarray probesets 3
Other
Accession IDs
less
MGI:2146270
References
more
  • Summaries
    All 33
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 5
    Phenotypes 29
  • 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:217315 Wang F, et al., WASH complex regulates Arp2/3 complex for actin-based polar body extrusion in mouse oocytes. Sci Rep. 2014;4:5596

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
07/19/2016
MGI 6.04
The Jackson Laboratory