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Tspear Gene Detail
Summary
  • Symbol
    Tspear
  • Name
    thrombospondin type laminin G domain and EAR repeats
  • Synonyms
    C330046G03Rik, ORF65
  • Feature Type
    protein coding gene
  • IDs
    MGI:2671932
    NCBI Gene: 252974
Location & Maps
more
  • Sequence Map
    Chr10:77686569-77887021 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      200453 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 10, 39.72 cM
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    TSPEAR, thrombospondin type laminin G domain and EAR repeats
  • Vertebrate Orthologs
    9
  • Human Ortholog
    TSPEAR, thrombospondin type laminin G domain and EAR repeats
    Orthology source: HomoloGene, HGNC
  • Synonyms
    C21orf29, DFNB98, TSP-EAR
  • Links
    NCBI Gene ID: 54084
    neXtProt AC: NX_Q8WU66

  • Chr Location
    21q22.3; chr21:44497892-44711580 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human TSPEAR associations

Human Disease Mouse Models
       Deafness, Autosomal Recessive 98; DFNB98   OMIM: 614861
Click on a disease name to see all genes associated with that disease.

  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotype references
  • All Mutations and Alleles
    7
  • Chemically induced (other)
    1
  • Targeted
    6
  • Genomic Mutations
    4 involving Tspear
  • Incidental Mutations
    APF
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 OTTMUSG00000020510 VEGA Gene Model | MGI Sequence Detail 200453 C57BL/6J ±  kb
transcript OTTMUST00000147390 VEGA | MGI Sequence Detail 2446 Not Applicable  
polypeptide OTTMUSP00000076700 VEGA | MGI Sequence Detail 670 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    453 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 7
    cDNA 5
    Primer pair 2

    Microarray probesets 1
Other
Accession IDs
less
MGI:2652696
References
more
  • Summaries
    All 22
    Developmental Gene Expression 3
    Diseases 2
    Gene Ontology 3
    Phenotypes 16
  • 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:185976 Delmaghani S, et al., Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. Hum Mol Genet. 2012 Sep 1;21(17):3835-44

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/22/2016
MGI 6.06
The Jackson Laboratory