Human Gene TSPEAR (ENST00000323084.9_10) from GENCODE V47lift37
  Description: thrombospondin type laminin G domain and EAR repeats, transcript variant 1 (from RefSeq NM_144991.3)
Gencode Transcript: ENST00000323084.9_10
Gencode Gene: ENSG00000175894.18_13
Transcript (Including UTRs)
   Position: hg19 chr21:45,917,776-46,131,487 Size: 213,712 Total Exon Count: 12 Strand: -
Coding Region
   Position: hg19 chr21:45,919,666-46,131,429 Size: 211,764 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:45,917,776-46,131,487)mRNA (may differ from genome)Protein (669 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TSEAR_HUMAN
DESCRIPTION: RecName: Full=Protein TSPEAR; AltName: Full=Thrombospondin-type laminin G domain and EAR repeat-containing protein; Short=TSP-EAR; Flags: Precursor;
SUBCELLULAR LOCATION: Secreted (Probable).
SIMILARITY: Contains 7 EAR repeats.
SIMILARITY: Contains 1 laminin G-like domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TSPEAR
Diseases sorted by gene-association score: deafness, autosomal recessive 98* (937), autosomal recessive non-syndromic sensorineural deafness type dfnb* (75), autosomal recessive nonsyndromic deafness 8 (10)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.43 RPKM in Testis
Total median expression: 12.64 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -19.1058-0.329 Picture PostScript Text
3' UTR -706.601890-0.374 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR009039 - EAR
IPR005492 - EPTP
IPR001791 - Laminin_G

Pfam Domains:
PF03736 - EPTP domain

SCOP Domains:
49899 - Concanavalin A-like lectins/glucanases

ModBase Predicted Comparative 3D Structure on Q8WU66
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
Gene SorterGene Sorter Gene Sorter  
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function

Biological Process:
GO:0007605 sensory perception of sound

Cellular Component:
GO:0005576 extracellular region
GO:0009986 cell surface
GO:0032420 stereocilium
GO:0042995 cell projection
GO:0060170 ciliary membrane


-  Descriptions from all associated GenBank mRNAs
  AJ487962 - Homo sapiens mRNA for TSP-EAR protein (TSPEAR gene).
BC115414 - Homo sapiens cDNA clone IMAGE:40080523, containing frame-shift errors.
BC115415 - Homo sapiens chromosome 21 open reading frame 29, mRNA (cDNA clone MGC:135061 IMAGE:40080529), complete cds.
JD064242 - Sequence 45266 from Patent EP1572962.
JD442169 - Sequence 423193 from Patent EP1572962.
JD094885 - Sequence 75909 from Patent EP1572962.
JD150397 - Sequence 131421 from Patent EP1572962.
JD055570 - Sequence 36594 from Patent EP1572962.
JD493035 - Sequence 474059 from Patent EP1572962.
JD363092 - Sequence 344116 from Patent EP1572962.
JD121934 - Sequence 102958 from Patent EP1572962.
JD148995 - Sequence 130019 from Patent EP1572962.
JD167724 - Sequence 148748 from Patent EP1572962.
JD390613 - Sequence 371637 from Patent EP1572962.
JD467339 - Sequence 448363 from Patent EP1572962.
JD463593 - Sequence 444617 from Patent EP1572962.
JD372064 - Sequence 353088 from Patent EP1572962.
JD100864 - Sequence 81888 from Patent EP1572962.
JD335209 - Sequence 316233 from Patent EP1572962.
JD269781 - Sequence 250805 from Patent EP1572962.
JD491855 - Sequence 472879 from Patent EP1572962.
JD396444 - Sequence 377468 from Patent EP1572962.
JD226911 - Sequence 207935 from Patent EP1572962.
JD165979 - Sequence 147003 from Patent EP1572962.
JD111709 - Sequence 92733 from Patent EP1572962.
JD424186 - Sequence 405210 from Patent EP1572962.
JD233108 - Sequence 214132 from Patent EP1572962.
JD467103 - Sequence 448127 from Patent EP1572962.
JD196454 - Sequence 177478 from Patent EP1572962.
JD200588 - Sequence 181612 from Patent EP1572962.
JD341917 - Sequence 322941 from Patent EP1572962.
JD150035 - Sequence 131059 from Patent EP1572962.
JD107916 - Sequence 88940 from Patent EP1572962.
JD515250 - Sequence 496274 from Patent EP1572962.
JD277031 - Sequence 258055 from Patent EP1572962.
JD132338 - Sequence 113362 from Patent EP1572962.
JD554981 - Sequence 536005 from Patent EP1572962.
JD483567 - Sequence 464591 from Patent EP1572962.
JD460892 - Sequence 441916 from Patent EP1572962.
JD103709 - Sequence 84733 from Patent EP1572962.
JD254306 - Sequence 235330 from Patent EP1572962.
JD230929 - Sequence 211953 from Patent EP1572962.
JD169974 - Sequence 150998 from Patent EP1572962.
JD217173 - Sequence 198197 from Patent EP1572962.
JD425554 - Sequence 406578 from Patent EP1572962.
JD343676 - Sequence 324700 from Patent EP1572962.
JD278026 - Sequence 259050 from Patent EP1572962.
JD100641 - Sequence 81665 from Patent EP1572962.
BC021197 - Homo sapiens chromosome 21 open reading frame 29, mRNA (cDNA clone IMAGE:3940847), partial cds.
KJ904767 - Synthetic construct Homo sapiens clone ccsbBroadEn_14161 TSPEAR gene, encodes complete protein.

-  Other Names for This Gene
  Alternate Gene Symbols: C21orf29, ENST00000323084.1, ENST00000323084.2, ENST00000323084.3, ENST00000323084.4, ENST00000323084.5, ENST00000323084.6, ENST00000323084.7, ENST00000323084.8, NM_144991, Q8WU66, TSEAR_HUMAN, uc317rkc.1, uc317rkc.2
UCSC ID: ENST00000323084.9_10
RefSeq Accession: NM_144991.3
Protein: Q8WU66 (aka TSEAR_HUMAN or TSEA_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.