LOCUS       NM_001272037            4020 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens thrombospondin type laminin G domain and EAR repeats
            (TSPEAR), transcript variant 2, mRNA.
ACCESSION   NM_001272037
VERSION     NM_001272037.2
KEYWORDS    RefSeq.
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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 4020)
  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 AL773604.1, BC115414.1 and
            AJ487962.1.
            
            On May 31, 2019 this sequence version replaced NM_001272037.1.
            
            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 (2) contains an additional exon in
            the 5' region that causes translation initiation from a downstream
            AUG compared to variant 1. The resulting isoform (2) has a shorter
            N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC115414.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-25                AL773604.1         31852-31876         c
            26-2815             BC115414.1         1-2790
            2816-4020           AJ487962.1         2762-3966
FEATURES             Location/Qualifiers
     source          1..4020
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.3"
     gene            1..4020
                     /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"
     exon            141..202
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            203..423
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     CDS             325..2130
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="isoform 2 is encoded by transcript variant 2;
                     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 2"
                     /protein_id="NP_001258966.1"
                     /db_xref="GeneID:54084"
                     /db_xref="HGNC:HGNC:1268"
                     /db_xref="MIM:612920"
                     /translation="MSFPASRIFSQCDLFPEEFSIVVTLRVPNLPPKRNEYLLTVVAE
                     ESDLLLLGLRLSPAQLHFLFLREDTAGAWQTRVSFRSPALVDGRWHTLVLAVSAGVFS
                     LTTDCGLPVDIMADVPFPATLSVKGARFFVGSRRRAKGLFMGLVRQLVLLPGSDATPR
                     LCPSRNAPLAVLSIPRVLQALTGKPEDNEVLKYPYETNIRVTLGPQPPCTEVEDAQFW
                     FDASRKGLYLCVGNEWVSVLAAKERLDYVEEHQNLSTNSETLGIEVFRIPQVGLFVAT
                     ANRKATSAVYKWTEEKFVSYQNIPTHQAQAWRHFTIGKKIFLAVANFEPDEKGQEFSV
                     IYKWSHRKLKFTPYQSIATHSARDWEAFEVDGEHFLAVANHREGDNHNIDSVIYKWNP
                     ATRLFEANQTIATSGAYDWEFFSVGPYSFLVVANTFNGTSTKVHSHLYIRLLGSFQLF
                     QSFPTFGAADWEVFQIGERIFLAVANSHSYDVEMQVQNDSYVINSVIYELNVTAQAFV
                     KFQDILTCSALDWEFFSVGEDYFLVVANSFDGRTFSVNSIIYRWQGYEGFVAVHSLPT
                     VGCRDWEAFSTTAGAYLIYSSAKEPLSRVLRLRTR"
     exon            424..662
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            663..753
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            754..910
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            911..1042
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1269
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1270..1456
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1457..1686
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1687..1874
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1875..1976
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     exon            1977..4020
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3366..3371
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="hexamer: AATAAA"
     polyA_site      3387
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="major polyA site"
     regulatory      3999..4004
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TSPEAR"
                     /gene_synonym="C21orf29; DFNB98; ECTD14; STHAG10; TSP-EAR"
                     /note="hexamer: AATAAA"
     polyA_site      4020
                     /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 catgctcatc tttgaaagcg tgggctgaat gctgacctcc
      181 cggacatcat gagtgttgtt ctacctgcgc cccctggaca tcctggcgga agtggtccct
      241 tctgatggcg ccacaagcgg gatcaggata gttcaggttc acggtgcacg gggactccag
      301 ctctcagtag ccgccccccg caccatgagc ttcccagcat ccaggatttt ctcccagtgt
      361 gacctcttcc ctgaagaatt ttccatcgtc gtaactttga gagttcccaa tcttccaccc
      421 aagaggaacg agtacctgct gacggtggtg gcagaggaga gcgacctgct gctgctcggc
      481 ctgcggttgt cacctgccca gctgcacttc ctgttccttc gcgaggacac ggccggcgcc
      541 tggcagaccc gagtgtcctt ccgcagcccg gccctggtgg atggccgctg gcacacactg
      601 gtcctggctg tgtccgcagg cgtcttctcc ctcaccacgg actgcggcct cccggtggac
      661 ataatggccg atgtgccctt cccagccacc ctgtcagtga aaggagctcg attcttcgtc
      721 ggcagccgga ggagagccaa aggcctgttc atgggactgg tgaggcaact ggtcctgctg
      781 ccgggctcag acgccacccc aaggctgtgt cccagcagga acgccccgct ggcggtgctg
      841 tccatcccac gggtcctgca ggctctcacg gggaagccag aagataacga ggtgctaaaa
      901 tatccctatg aaaccaacat tcgagtgacg ctgggacccc agccaccgtg taccgaggtg
      961 gaagacgccc agttctggtt tgatgccagc cggaagggcc tgtatctgtg tgttggcaac
     1021 gagtgggtct ccgtgttagc agccaaagaa agactggact acgtggagga gcatcagaac
     1081 ttgtccacca actcagagac cctgggcatt gaggtgttcc gcatccctca ggtggggctc
     1141 tttgtggcca cagccaatcg caaagccaca tccgccgtct acaagtggac cgaagagaag
     1201 ttcgtctcat atcagaacat ccccacgcac caagcacagg cctggaggca tttcaccatc
     1261 gggaaaaaga tcttcctggc agtggctaat tttgaaccag atgagaaggg tcaggagttc
     1321 tctgtcattt acaaatggag ccacagaaag ctgaagttta ccccatatca gagcattgcc
     1381 acacacagcg cccgagactg ggaggccttc gaggtggatg gggagcactt cctggcggtg
     1441 gccaaccacc gggaaggcga caaccacaac atcgacagtg tcatctacaa gtggaacccg
     1501 gcaacccggc tcttcgaggc caaccagacc atcgccacct ccggcgccta cgactgggag
     1561 ttcttcagtg tggggcccta ctcgttcctg gtggtggcca acaccttcaa cggcacctcc
     1621 accaaggtgc actcgcacct ctacatccga ctcctgggct ccttccagct cttccagtcc
     1681 ttcccgacgt tcggtgctgc agactgggag gtcttccaga tcggggagag gatcttcctc
     1741 gctgtggcaa acagtcacag ctacgatgtg gagatgcaag tccagaatga ttcctatgtc
     1801 atcaactccg tcatctacga gctgaacgtg accgcgcagg cctttgtcaa gttccaggac
     1861 attctcacct gcagtgctct ggactgggag tttttctcgg tgggagaaga ttatttcctg
     1921 gtggtggcca actccttcga tgggcgtacc ttctcggtga acagtattat ttacaggtgg
     1981 cagggctacg agggcttcgt ggcggtgcac agcctcccca ccgtcggctg cagggactgg
     2041 gaggccttca gcaccacggc tggtgcctac ctcatctact ccagcgccaa ggagcccctc
     2101 tccagggtcc tgcggctgag gacacgctga ggccgcggct gcccggcagc aactggggtg
     2161 gccaggtggg gcgggacccc agcacctccc ccaactgacc ctggacgtcc aggtgggccc
     2221 agcctagggc atcccgggcc tgggcatcag gcagggtgca ggtggggcca tctgcggccc
     2281 tggttcgggc agggacatcc atccacctct gagtccttct gagccacagc cccagtgacg
     2341 gtctggtctt gcaggcagag gcccagagcc cctgccagtg ctcgcccatc tgagtgtcaa
     2401 gcggggattt cgctgtcaag gaaccgtttc tatacatttt tacctcaaac aacaggacct
     2461 cggttcatgt ccctgcggct ggcctctcgc cagccactcc tgcagtgtgc gtccggccgc
     2521 ctgagcaggt gtggtgccgt cccgccattg ccgccaccta tttattgtgt tttatctgaa
     2581 cggaagtgta tttatactgc tctttacaaa agcaccggtg ctcctctcta ggcagcgggt
     2641 gggcacagcc cctcaccacg gacacggaca gaggaccacc tccccataca gagagaggct
     2701 tccctcccag cctcagttta cccgtaaatg cactagcgcg aggtcagaaa tcacaagcct
     2761 gggcatggcc tgggtcgcac cccctcccca cggccccacc cacagggacc tcaacttctg
     2821 ggcccgggat tttttcccta ttcagcagca ttttaatcac atgtcctcca gctgactggg
     2881 actcaggctg cgtgcctccg tctgcctgtg tgctggctgt cctagctccc tggtaacagc
     2941 atcctctgct ggctctcctg tggtcatctt gtctctgcag ctgggagagc tgcttgtctg
     3001 tccgtcacag gcagtgagga tgagaggggg tgatgggcgc aaggccccag gggtcctccc
     3061 tcttaaccca tgtaggtgcc agagaaacca cccccactcc atgagaagag gctcagacag
     3121 caggctccgg ggccacgcag cccagaccac acctgccacg gtcttccagg aacggtgctc
     3181 ctgcttctgc aacacaaatc ggaacaggag cgatcctcag agagtttaca atgtgctttt
     3241 tccgccaatc agaactgtgg acaaaacttc ctatttccta caccgcagct gtctgttcac
     3301 cttcagctca gagagcactc ctgacctttc gtaatgaaat ggaagcctcc ccttgtctgg
     3361 caaataataa actcagtgtc tacttttgcc ggctttggga ccttcgtgtt tttccggggc
     3421 tcaggtctca ctccagccat cgctgtggcc agtggagagc cactcccctc tgggggcagt
     3481 cgccgagagc ctccttcccc tccgtccagc cagcaaggct ttcccaagcg tcctgggcag
     3541 gagggttggg ccctgctttc caccaagtca ctcagaaggt cccaatcaca catgattggc
     3601 ctcattgggt cagcacctgt gaaaggaaga ttaaaaactc gacaccccaa ttcactcaac
     3661 caagaagaaa aaagctgaaa gctgagtcct gcaggaagct gcctttccct ttgccctaag
     3721 cagacagctg cagatgagag ggtcagcatc tccactagtg gctgctctgt gtgcccctta
     3781 tctcatggaa agtgccaatt tactgagcac gagataaaca ggtaactgac tgttcccacc
     3841 tgctcctttt ctcctgcagc atggagcaat cagtcatgtg accacaccct cctccctctg
     3901 ccccctccag ccggcttttc cccttgactg aagccttcaa catcatcttg ggagagaggc
     3961 acagacctgt ctcctgggtg catccttagc cttggcaaaa taaacttctc cattgatcga
//
