Details for: TSPEAR
Associated with
Other Information
Genular Protein ID: 3269200833
Symbol: TSEAR_HUMAN
Name: Thrombospondin-type laminin G domain and EAR repeat-containing protein
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 12095917
Title: A common protein interaction domain links two recently identified epilepsy genes.
PubMed ID: 12095917
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 22678063
Title: Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.
PubMed ID: 22678063
DOI: 10.1093/hmg/dds212
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
PubMed ID: 27736875
Title: Mutations in TSPEAR, Encoding a Regulator of Notch Signaling, Affect Tooth and Hair Follicle Morphogenesis.
PubMed ID: 27736875
PubMed ID: 30046887
Title: Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
PubMed ID: 30046887
PubMed ID: 32112661
Title: Novel TSPEAR mutations in non-syndromic oligodontia.
PubMed ID: 32112661
DOI: 10.1111/odi.13316
PubMed ID: 34042254
Title: TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study.
PubMed ID: 34042254
DOI: 10.1002/ajmg.a.62347
Sequence Information:
- Length: 669
- Mass: 74924
- Checksum: E3E880708B63812E
- Sequence:
MSALLSLCFV LPLAAPGHGT QGWEPCTDLR PLDILAEVVP SDGATSGIRI VQVHGARGLQ LSVAAPRTMS FPASRIFSQC DLFPEEFSIV VTLRVPNLPP KRNEYLLTVV AEESDLLLLG LRLSPAQLHF LFLREDTAGA WQTRVSFRSP ALVDGRWHTL VLAVSAGVFS LTTDCGLPVD IMADVPFPAT LSVKGARFFV GSRRRAKGLF MGLVRQLVLL PGSDATPRLC PSRNAPLAVL SIPRVLQALT GKPEDNEVLK YPYETNIRVT LGPQPPCTEV EDAQFWFDAS RKGLYLCVGN EWVSVLAAKE RLDYVEEHQN LSTNSETLGI EVFRIPQVGL FVATANRKAT SAVYKWTEEK FVSYQNIPTH QAQAWRHFTI GKKIFLAVAN FEPDEKGQEF SVIYKWSHRK LKFTPYQSIA THSARDWEAF EVDGEHFLAV ANHREGDNHN IDSVIYKWNP ATRLFEANQT IATSGAYDWE FFSVGPYSFL VVANTFNGTS TKVHSHLYIR LLGSFQLFQS FPTFGAADWE VFQIGERIFL AVANSHSYDV EMQVQNDSYV INSVIYELNV TAQAFVKFQD ILTCSALDWE FFSVGEDYFL VVANSFDGRT FSVNSIIYRW QGYEGFVAVH SLPTVGCRDW EAFSTTAGAY LIYSSAKEPL SRVLRLRTR
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.