Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TSPEAR Gene

Aliases for TSPEAR Gene

  • Thrombospondin-Type Laminin G Domain And EAR Repeats 2 3
  • C21orf29 3 4 6
  • TSP-EAR 3 4
  • DFNB98 3 6
  • Thrombospondin-Type Laminin G Domain And EAR Repeats-Containing Protein 3
  • Thrombospondin-Type Laminin G Domain And EAR Repeat-Containing Protein 3
  • Chromosome 21 Open Reading Frame 29 2
  • Deafness, Autosomal Recessive 98 2

External Ids for TSPEAR Gene

Previous Symbols for TSPEAR Gene

  • C21orf29
  • DFNB98

Summaries for TSPEAR Gene

Entrez Gene Summary for TSPEAR Gene

  • This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]

GeneCards Summary for TSPEAR Gene

TSPEAR (Thrombospondin-Type Laminin G Domain And EAR Repeats) is a Protein Coding gene. Diseases associated with TSPEAR include deafness, autosomal recessive 98 and autosomal recessive non-syndromic sensorineural deafness type dfnb.

UniProtKB/Swiss-Prot for TSPEAR Gene

  • May play a role in development or function of the auditory system

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TSPEAR Gene

Genomics for TSPEAR Gene

Genomic Location for TSPEAR Gene

Start:
44,497,892 bp from pter
End:
44,711,580 bp from pter
Size:
213,689 bases
Orientation:
Minus strand

Genomic View for TSPEAR Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TSPEAR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TSPEAR Gene

No data available for Regulatory Elements for TSPEAR Gene

Proteins for TSPEAR Gene

  • Protein details for TSPEAR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WU66-TSEAR_HUMAN
    Recommended name:
    Thrombospondin-type laminin G domain and EAR repeat-containing protein
    Protein Accession:
    Q8WU66
    Secondary Accessions:

    Protein attributes for TSPEAR Gene

    Size:
    669 amino acids
    Molecular mass:
    74924 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH21197.2; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for TSPEAR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TSPEAR Gene

Proteomics data for TSPEAR Gene at MOPED

Post-translational modifications for TSPEAR Gene

  • Glycosylation at Asn320, Asn468, Asn497, Asn556, and Asn569

Other Protein References for TSPEAR Gene

No data available for DME Specific Peptides for TSPEAR Gene

Domains for TSPEAR Gene

Protein Domains for TSPEAR Gene

UniProtKB/Swiss-Prot:

TSEAR_HUMAN
Domain:
  • Contains 1 laminin G-like domain.:
    • Q8WU66
Similarity:
  • Contains 7 EAR repeats.:
    • Q8WU66
genes like me logo Genes that share domains with TSPEAR: view

No data available for Gene Families for TSPEAR Gene

Function for TSPEAR Gene

Molecular function for TSPEAR Gene

UniProtKB/Swiss-Prot Function: May play a role in development or function of the auditory system

Gene Ontology (GO) - Molecular Function for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with TSPEAR: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TSPEAR Gene

Localization for TSPEAR Gene

Subcellular locations from UniProtKB/Swiss-Prot for TSPEAR Gene

Secreted. Cell surface. Cell projection, stereocilium. Note=Secreted protein which may bind to the cell surface via a membrane receptor. {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0009986 cell surface ISS --
GO:0032420 stereocilium ISS --
GO:0060170 ciliary membrane IEA --
genes like me logo Genes that share ontologies with TSPEAR: view

Pathways for TSPEAR Gene

SuperPathways for TSPEAR Gene

No Data Available

Interacting Proteins for TSPEAR Gene

Gene Ontology (GO) - Biological Process for TSPEAR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007605 sensory perception of sound IMP 22678063
genes like me logo Genes that share ontologies with TSPEAR: view

No data available for Pathways by source for TSPEAR Gene

Transcripts for TSPEAR Gene

mRNA/cDNA for TSPEAR Gene

(2) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(11) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TSPEAR Gene

Thrombospondin-type laminin G domain and EAR repeats:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TSPEAR Gene

No ASD Table

Relevant External Links for TSPEAR Gene

GeneLoc Exon Structure for
TSPEAR
ECgene alternative splicing isoforms for
TSPEAR

Expression for TSPEAR Gene

mRNA expression in normal human tissues for TSPEAR Gene

mRNA differential expression in normal tissues according to GTEx for TSPEAR Gene

This gene is overexpressed in Testis (8.6) and Pituitary (7.0).

SOURCE GeneReport for Unigene cluster for TSPEAR Gene Hs.660703

genes like me logo Genes that share expressions with TSPEAR: view

Orthologs for TSPEAR Gene

This gene was present in the common ancestor of chordates.

Orthologs for TSPEAR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TSPEAR 36
  • 99.05 (n)
  • 98.8 (a)
TSPEAR 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TSPEAR 36
  • 83.78 (n)
  • 84.13 (a)
TSPEAR 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC611461 36
  • 84.66 (n)
  • 84.4 (a)
TSPEAR 37
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tspear 36
  • 81.79 (n)
  • 82.19 (a)
Tspear 16
Tspear 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TSPEAR 37
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TSPEAR 37
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves TSPEAR 36
  • 72.63 (n)
  • 68.98 (a)
TSPEAR 37
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TSPEAR 37
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tspear 36
  • 64.66 (n)
  • 63.06 (a)
zebrafish
(Danio rerio)
Actinopterygii tspeara 37
  • 54 (a)
OneToMany
tspearb 36
  • 62.22 (n)
  • 58.27 (a)
tspearb 37
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 43 (a)
OneToMany
-- 37
  • 32 (a)
OneToMany
Species with no ortholog for TSPEAR:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TSPEAR Gene

ENSEMBL:
Gene Tree for TSPEAR (if available)
TreeFam:
Gene Tree for TSPEAR (if available)

Paralogs for TSPEAR Gene

Selected SIMAP similar genes for TSPEAR Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TSPEAR: view

No data available for Paralogs for TSPEAR Gene

Variants for TSPEAR Gene

Sequence variations from dbSNP and Humsavar for TSPEAR Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type MAF
rs51336 -- 44,617,309(+) GTGCA(C/T)GCTCA intron-variant
rs115728 -- 44,563,823(+) tatat(A/G)tgttt intron-variant
rs116344 -- 44,594,847(+) agatg(C/G)agtct intron-variant
rs144266 -- 44,578,088(+) cctcc(C/T)cagcc intron-variant
rs144267 -- 44,578,168(+) gcacc(A/G)tgaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TSPEAR Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV Loss 17666407
nsv913898 CNV Loss 21882294
esv2723638 CNV Deletion 23290073
dgv4772n71 CNV Loss 21882294
nsv913943 CNV Loss 21882294
nsv913946 CNV Gain 21882294
nsv913948 CNV Loss 21882294
nsv834109 CNV Loss 17160897
nsv913949 CNV Loss 21882294
esv2723666 CNV Deletion 23290073
esv2114700 CNV Deletion 18987734
esv2723667 CNV Deletion 23290073
esv2723668 CNV Deletion 23290073
esv2723669 CNV Deletion 23290073
esv2723670 CNV Deletion 23290073
esv2723671 CNV Deletion 23290073
esv23492 CNV Gain+Loss 19812545
esv1917114 CNV Deletion 18987734
esv2109234 CNV Deletion 18987734
nsv913950 CNV Gain 21882294
esv2723673 CNV Deletion 23290073
esv7169 OTHER Inversion 19470904
nsv913951 CNV Loss 21882294
nsv516004 CNV Loss 19592680
nsv913952 CNV Loss 21882294
esv2751931 CNV Loss 17911159
esv2723674 CNV Deletion 23290073
esv2660233 CNV Deletion 23128226
esv8518 OTHER Inversion 19470904
nsv913953 CNV Loss 21882294
esv2723675 CNV Deletion 23290073
nsv913954 CNV Loss 21882294
nsv828913 CNV Gain 20364138
nsv913955 CNV Loss 21882294
esv1943808 CNV Deletion 18987734
esv2723676 CNV Deletion 23290073
esv271511 CNV Insertion 20981092
dgv4775n71 CNV Loss 21882294
nsv913957 CNV Loss 21882294
nsv913958 CNV Loss 21882294
nsv913959 CNV Loss 21882294
esv2723677 CNV Deletion 23290073
nsv524387 CNV Loss 19592680

Relevant External Links for TSPEAR Gene

HapMap Linkage Disequilibrium report
TSPEAR
Human Gene Mutation Database (HGMD)
TSPEAR

Disorders for TSPEAR Gene

(1) OMIM Diseases for TSPEAR Gene (612920)

UniProtKB/Swiss-Prot

TSEAR_HUMAN
  • Deafness, autosomal recessive, 98 (DFNB98) [MIM:614861]: A form of non-syndromic sensorineural hearing loss with prelingual onset. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:22678063}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with TSPEAR: view

Publications for TSPEAR Gene

  1. A common protein interaction domain links two recently identified epilepsy genes. (PMID: 12095917) Scheel H. … Hofmann K. (Hum. Mol. Genet. 2002) 2 3 4
  2. Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness. (PMID: 22678063) Delmaghani S. … Petit C. (Hum. Mol. Genet. 2012) 2 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Functional analysis and identification of cis-regulatory elements of human chromosome 21 gene promoters. (PMID: 20494980) Warnatz H.J. … Yaspo M.L. (Nucleic Acids Res. 2010) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for TSPEAR Gene

Sources for TSPEAR Gene

Back to Top

Content