LOCUS       NM_144991               3958 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens thrombospondin type laminin G domain and EAR repeats
            (TSPEAR), transcript variant 1, mRNA.
ACCESSION   NM_144991
VERSION     NM_144991.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 3958)
  AUTHORS   Jackson,A., Lin,S.J., Jones,E.A., Chandler,K.E., Orr,D., Moss,C.,
            Haider,Z., Ryan,G., Holden,S., Harrison,M., Burrows,N., Jones,W.D.,
            Loveless,M., Petree,C., Stewart,H., Low,K., Donnelly,D., Lovell,S.,
            Drosou,K., Varshney,G.K. and Banka,S.
  CONSRTM   Genomics England Research Consortium; Solve-RD consortium
  TITLE     Clinical, genetic, epidemiologic, evolutionary, and functional
            delineation of TSPEAR-related autosomal recessive ectodermal
            dysplasia 14
  JOURNAL   HGG Adv 4 (2), 100186 (2023)
   PUBMED   37009414
  REMARK    GeneRIF: Clinical, genetic, epidemiologic, evolutionary, and
            functional delineation of TSPEAR-related autosomal recessive
            ectodermal dysplasia 14.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3958)
  AUTHORS   Rabie,E.A., Sayed,I.S.M., Amr,K., Ahmed,H.A., Mostafa,M.I.,
            Hassib,N.F., El-Sayed,H., Zada,S.K. and El-Kamah,G.
  TITLE     Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian
            Ectodermal Dysplasia Patients and Role of Ethnicity
  JOURNAL   Genes (Basel) 13 (6), 1056 (2022)
   PUBMED   35741818
  REMARK    GeneRIF: Confirmation of a Phenotypic Entity for TSPEAR Variants in
            Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3958)
  AUTHORS   Bowles,B., Ferrer,A., Nishimura,C.J., Pinto E Vairo,F., Rey,T.,
            Leheup,B., Sullivan,J., Schoch,K., Stong,N., Agolini,E.,
            Cocciadiferro,D., Williams,A., Cummings,A., Loddo,S., Genovese,S.,
            Roadhouse,C., McWalter,K., Wentzensen,I.M., Li,C.,
            Babovic-Vuksanovic,D., Lanpher,B.C., Dentici,M.L., Ankala,A.,
            Hamm,J.A., Dallapiccola,B., Radio,F.C., Shashi,V., Gerard,B.,
            Bloch-Zupan,A., Smith,R.J. and Klee,E.W.
  CONSRTM   Undiagnosed Diseases Network
  TITLE     TSPEAR variants are primarily associated with ectodermal dysplasia
            and tooth agenesis but not hearing loss: A novel cohort study
  JOURNAL   Am J Med Genet A 185 (8), 2417-2433 (2021)
   PUBMED   34042254
  REMARK    GeneRIF: TSPEAR variants are primarily associated with ectodermal
            dysplasia and tooth agenesis but not hearing loss: A novel cohort
            study.
REFERENCE   4  (bases 1 to 3958)
  AUTHORS   Song,J.S., Bae,M. and Kim,J.W.
  TITLE     Novel TSPEAR mutations in non-syndromic oligodontia
  JOURNAL   Oral Dis 26 (4), 847-849 (2020)
   PUBMED   32112661
  REMARK    GeneRIF: Novel TSPEAR mutations in non-syndromic oligodontia.
REFERENCE   5  (bases 1 to 3958)
  AUTHORS   Du,R., Dinckan,N., Song,X., Coban-Akdemir,Z., Jhangiani,S.N.,
            Guven,Y., Aktoren,O., Kayserili,H., Petty,L.E., Muzny,D.M.,
            Below,J.E., Boerwinkle,E., Wu,N., Gibbs,R.A., Posey,J.E.,
            Lupski,J.R., Letra,A. and Uyguner,Z.O.
  TITLE     Identification of likely pathogenic and known variants in TSPEAR,
            LAMB3, BCOR, and WNT10A in four Turkish families with tooth
            agenesis
  JOURNAL   Hum Genet 137 (9), 689-703 (2018)
   PUBMED   30046887
  REMARK    GeneRIF: TSPEAR mutation is associated with tooth agenesis.
REFERENCE   6  (bases 1 to 3958)
  AUTHORS   Wang,Y. and Tatakis,D.N.
  TITLE     Human gingiva transcriptome during wound healing
  JOURNAL   J Clin Periodontol 44 (4), 394-402 (2017)
   PUBMED   28005267
  REMARK    GeneRIF: TSPEAR expression is significantly downregulated in human
            masticatory mucosa during wound healing
REFERENCE   7  (bases 1 to 3958)
  AUTHORS   Peled,A., Sarig,O., Samuelov,L., Bertolini,M., Ziv,L.,
            Weissglas-Volkov,D., Eskin-Schwartz,M., Adase,C.A., Malchin,N.,
            Bochner,R., Fainberg,G., Goldberg,I., Sugawara,K., Baniel,A.,
            Tsuruta,D., Luxenburg,C., Adir,N., Duverger,O., Morasso,M.,
            Shalev,S., Gallo,R.L., Shomron,N., Paus,R. and Sprecher,E.
  TITLE     Mutations in TSPEAR, Encoding a Regulator of Notch Signaling,
            Affect Tooth and Hair Follicle Morphogenesis
  JOURNAL   PLoS Genet 12 (10), e1006369 (2016)
   PUBMED   27736875
  REMARK    GeneRIF: using a luciferase-based reporter assay, we showed that
            TSPEAR knock-down is associated with decreased Notch signaling. In
            addition, NOTCH1 protein expression was reduced in patient scalp
            skin. Moreover, TSPEAR silencing in mouse hair follicle organ
            cultures was found to induce apoptosis in follicular epithelial
            cells, resulting in decreased hair bulb diameter
            Publication Status: Online-Only
REFERENCE   8  (bases 1 to 3958)
  AUTHORS   Delmaghani,S., Aghaie,A., Michalski,N., Bonnet,C., Weil,D. and
            Petit,C.
  TITLE     Defect in the gene encoding the EAR/EPTP domain-containing protein
            TSPEAR causes DFNB98 profound deafness
  JOURNAL   Hum Mol Genet 21 (17), 3835-3844 (2012)
   PUBMED   22678063
  REMARK    GeneRIF: TSPEAR, cause disorders with auditory features: epilepsy,
            which can include auditory features in humans; audiogenic seizures
            in animals; and/or hearing impairments in humans and mice.
REFERENCE   9  (bases 1 to 3958)
  AUTHORS   Scheel,H., Tomiuk,S. and Hofmann,K.
  TITLE     A common protein interaction domain links two recently identified
            epilepsy genes
  JOURNAL   Hum Mol Genet 11 (15), 1757-1762 (2002)
   PUBMED   12095917
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AJ487962.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_144991.2.
            
            Summary: 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].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: AJ487962.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323084.9/ ENSP00000321987.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3958              AJ487962.1         9-3966
FEATURES             Location/Qualifiers
     source          1..3958
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..3958
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="thrombospondin type laminin G domain and EAR
                     repeats"
                     /db_xref="GeneID:54084"
                     /db_xref="HGNC:HGNC:1268"
                     /db_xref="MIM:612920"
     exon            1..140
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             59..2068
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; thrombospondin-type laminin G domain and EAR
                     repeats-containing protein"
                     /codon_start=1
                     /product="thrombospondin-type laminin G domain and EAR
                     repeat-containing protein isoform 1 precursor"
                     /protein_id="NP_659428.2"
                     /db_xref="CCDS:CCDS13712.1"
                     /db_xref="GeneID:54084"
                     /db_xref="HGNC:HGNC:1268"
                     /db_xref="MIM:612920"
                     /translation="MSALLSLCFVLPLAAPGHGTQGWEPCTDLRPLDILAEVVPSDGA
                     TSGIRIVQVHGARGLQLSVAAPRTMSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKR
                     NEYLLTVVAEESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTL
                     VLAVSAGVFSLTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLV
                     LLPGSDATPRLCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPP
                     CTEVEDAQFWFDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFR
                     IPQVGLFVATANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFE
                     PDEKGQEFSVIYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHN
                     IDSVIYKWNPATRLFEANQTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLY
                     IRLLGSFQLFQSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYVINSVIY
                     ELNVTAQAFVKFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYE
                     GFVAVHSLPTVGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR"
     exon            141..361
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            362..600
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            601..691
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            692..848
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            849..980
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            981..1207
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1208..1394
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1395..1624
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..1812
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1813..1914
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1915..3958
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3304..3309
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="hexamer: AATAAA"
     polyA_site      3325
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="major polyA site"
     regulatory      3937..3942
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="hexamer: AATAAA"
     polyA_site      3958
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
ORIGIN      
        1 agccacttcc ctgcaggctg agcggagccc tggatggagc ttggcaccca agcccctcat
       61 gtctgccctg ctgagtctgt gttttgtgct gcccctggcg gcccccggcc acggcacgca
      121 gggttgggag ccctgcacag acctgcgccc cctggacatc ctggcggaag tggtcccttc
      181 tgatggcgcc acaagcggga tcaggatagt tcaggttcac ggtgcacggg gactccagct
      241 ctcagtagcc gccccccgca ccatgagctt cccagcatcc aggattttct cccagtgtga
      301 cctcttccct gaagaatttt ccatcgtcgt aactttgaga gttcccaatc ttccacccaa
      361 gaggaacgag tacctgctga cggtggtggc agaggagagc gacctgctgc tgctcggcct
      421 gcggttgtca cctgcccagc tgcacttcct gttccttcgc gaggacacgg ccggcgcctg
      481 gcagacccga gtgtccttcc gcagcccggc cctggtggat ggccgctggc acacactggt
      541 cctggctgtg tccgcaggcg tcttctccct caccacggac tgcggcctcc cggtggacat
      601 aatggccgat gtgcccttcc cagccaccct gtcagtgaaa ggagctcgat tcttcgtcgg
      661 cagccggagg agagccaaag gcctgttcat gggactggtg aggcaactgg tcctgctgcc
      721 gggctcagac gccaccccaa ggctgtgtcc cagcaggaac gccccgctgg cggtgctgtc
      781 catcccacgg gtcctgcagg ctctcacggg gaagccagaa gataacgagg tgctaaaata
      841 tccctatgaa accaacattc gagtgacgct gggaccccag ccaccgtgta ccgaggtgga
      901 agacgcccag ttctggtttg atgccagccg gaagggcctg tatctgtgtg ttggcaacga
      961 gtgggtctcc gtgttagcag ccaaagaaag actggactac gtggaggagc atcagaactt
     1021 gtccaccaac tcagagaccc tgggcattga ggtgttccgc atccctcagg tggggctctt
     1081 tgtggccaca gccaatcgca aagccacatc cgccgtctac aagtggaccg aagagaagtt
     1141 cgtctcatat cagaacatcc ccacgcacca agcacaggcc tggaggcatt tcaccatcgg
     1201 gaaaaagatc ttcctggcag tggctaattt tgaaccagat gagaagggtc aggagttctc
     1261 tgtcatttac aaatggagcc acagaaagct gaagtttacc ccatatcaga gcattgccac
     1321 acacagcgcc cgagactggg aggccttcga ggtggatggg gagcacttcc tggcggtggc
     1381 caaccaccgg gaaggcgaca accacaacat cgacagtgtc atctacaagt ggaacccggc
     1441 aacccggctc ttcgaggcca accagaccat cgccacctcc ggcgcctacg actgggagtt
     1501 cttcagtgtg gggccctact cgttcctggt ggtggccaac accttcaacg gcacctccac
     1561 caaggtgcac tcgcacctct acatccgact cctgggctcc ttccagctct tccagtcctt
     1621 cccgacgttc ggtgctgcag actgggaggt cttccagatc ggggagagga tcttcctcgc
     1681 tgtggcaaac agtcacagct acgatgtgga gatgcaagtc cagaatgatt cctatgtcat
     1741 caactccgtc atctacgagc tgaacgtgac cgcgcaggcc tttgtcaagt tccaggacat
     1801 tctcacctgc agtgctctgg actgggagtt tttctcggtg ggagaagatt atttcctggt
     1861 ggtggccaac tccttcgatg ggcgtacctt ctcggtgaac agtattattt acaggtggca
     1921 gggctacgag ggcttcgtgg cggtgcacag cctccccacc gtcggctgca gggactggga
     1981 ggccttcagc accacggctg gtgcctacct catctactcc agcgccaagg agcccctctc
     2041 cagggtcctg cggctgagga cacgctgagg ccgcggctgc ccggcagcaa ctggggtggc
     2101 caggtggggc gggaccccag cacctccccc aactgaccct ggacgtccag gtgggcccag
     2161 cctagggcat cccgggcctg ggcatcaggc agggtgcagg tggggccatc tgcggccctg
     2221 gttcgggcag ggacatccat ccacctctga gtccttctga gccacagccc cagtgacggt
     2281 ctggtcttgc aggcagaggc ccagagcccc tgccagtgct cgcccatctg agtgtcaagc
     2341 ggggatttcg ctgtcaagga accgtttcta tacattttta cctcaaacaa caggacctcg
     2401 gttcatgtcc ctgcggctgg cctctcgcca gccactcctg cagtgtgcgt ccggccgcct
     2461 gagcaggtgt ggtgccgtcc cgccattgcc gccacctatt tattgtgttt tatctgaacg
     2521 gaagtgtatt tatactgctc tttacaaaag caccggtgct cctctctagg cagcgggtgg
     2581 gcacagcccc tcaccacgga cacggacaga ggaccacctc cccatacaga gagaggcttc
     2641 cctcccagcc tcagtttacc cgtaaatgca ctagcgcgag gtcagaaatc acaagcctgg
     2701 gcatggcctg ggtcgcaccc cctccccacg gccccaccca cagggacctc aacttctggg
     2761 cccgggattt tttccctatt cagcagcatt ttaatcacat gtcctccagc tgactgggac
     2821 tcaggctgcg tgcctccgtc tgcctgtgtg ctggctgtcc tagctccctg gtaacagcat
     2881 cctctgctgg ctctcctgtg gtcatcttgt ctctgcagct gggagagctg cttgtctgtc
     2941 cgtcacaggc agtgaggatg agagggggtg atgggcgcaa ggccccaggg gtcctccctc
     3001 ttaacccatg taggtgccag agaaaccacc cccactccat gagaagaggc tcagacagca
     3061 ggctccgggg ccacgcagcc cagaccacac ctgccacggt cttccaggaa cggtgctcct
     3121 gcttctgcaa cacaaatcgg aacaggagcg atcctcagag agtttacaat gtgctttttc
     3181 cgccaatcag aactgtggac aaaacttcct atttcctaca ccgcagctgt ctgttcacct
     3241 tcagctcaga gagcactcct gacctttcgt aatgaaatgg aagcctcccc ttgtctggca
     3301 aataataaac tcagtgtcta cttttgccgg ctttgggacc ttcgtgtttt tccggggctc
     3361 aggtctcact ccagccatcg ctgtggccag tggagagcca ctcccctctg ggggcagtcg
     3421 ccgagagcct ccttcccctc cgtccagcca gcaaggcttt cccaagcgtc ctgggcagga
     3481 gggttgggcc ctgctttcca ccaagtcact cagaaggtcc caatcacaca tgattggcct
     3541 cattgggtca gcacctgtga aaggaagatt aaaaactcga caccccaatt cactcaacca
     3601 agaagaaaaa agctgaaagc tgagtcctgc aggaagctgc ctttcccttt gccctaagca
     3661 gacagctgca gatgagaggg tcagcatctc cactagtggc tgctctgtgt gccccttatc
     3721 tcatggaaag tgccaattta ctgagcacga gataaacagg taactgactg ttcccacctg
     3781 ctccttttct cctgcagcat ggagcaatca gtcatgtgac cacaccctcc tccctctgcc
     3841 ccctccagcc ggcttttccc cttgactgaa gccttcaaca tcatcttggg agagaggcac
     3901 agacctgtct cctgggtgca tccttagcct tggcaaaata aacttctcca ttgatcga
//
