LOCUS       NM_147196               1765 bp    mRNA    linear   PRI 12-DEC-2024
DEFINITION  Homo sapiens transmembrane inner ear (TMIE), transcript variant 1,
            mRNA.
ACCESSION   NM_147196
VERSION     NM_147196.3
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 1765)
  AUTHORS   Rayat,S., Farhadi,M., Emamdjomeh,H., Morovvati,S. and Falah,M.
  TITLE     Analysis of TMIE gene mutations including the first large deletion
            of exon 1 with autosomal recessive non-syndromic deafness
  JOURNAL   BMC Med Genomics 15 (1), 133 (2022)
   PUBMED   35710363
  REMARK    GeneRIF: Analysis of TMIE gene mutations including the first large
            deletion of exon 1 with autosomal recessive non-syndromic deafness.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1765)
  AUTHORS   Ganapathy,A., Pandey,N., Srisailapathy,C.R., Jalvi,R., Malhotra,V.,
            Venkatappa,M., Chatterjee,A., Sharma,M., Santhanam,R., Chadha,S.,
            Ramesh,A., Agarwal,A.K., Rangasayee,R.R. and Anand,A.
  TITLE     Non-syndromic hearing impairment in India: high allelic
            heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and
            TMIE
  JOURNAL   PLoS One 9 (1), e84773 (2014)
   PUBMED   24416283
  REMARK    GeneRIF: Description of the spectrum of mutations in TMIE in 374
            families with autosomal recessive, non-syndromic hearing loss from
            India.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1765)
  AUTHORS   Yang,J.J., Su,M.C., Chien,K.H., Hsin,C.H. and Li,S.Y.
  TITLE     Identification of novel variants in the TMIE gene of patients with
            nonsyndromic hearing loss
  JOURNAL   Int J Pediatr Otorhinolaryngol 74 (5), 489-493 (2010)
   PUBMED   20206386
  REMARK    GeneRIF: We suggest that a missense variant and one promoter
            variant is de novo and may be a risk factor for the development of
            hearing loss in Taiwanese
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   4  (bases 1 to 1765)
  AUTHORS   Sirmaci,A., Ozturkmen-Akay,H., Erbek,S., Incesulu,A., Duman,D.,
            Tasir-Yilmaz,S., Ozdag,H. and Tekin,M.
  TITLE     A founder TMIE mutation is a frequent cause of hearing loss in
            southeastern Anatolia
  JOURNAL   Clin Genet 75 (6), 562-567 (2009)
   PUBMED   19438934
  REMARK    GeneRIF: p.R84W could be a common mutation in other Middle Eastern
            populations and should be included in mutation screening offered to
            individuals with autosomal recessive non-syndromic sensorineural
            hearing loss (ARNSSNHL)
REFERENCE   5  (bases 1 to 1765)
  AUTHORS   Santos,R.L., El-Shanti,H., Sikandar,S., Lee,K., Bhatti,A., Yan,K.,
            Chahrour,M.H., McArthur,N., Pham,T.L., Mahasneh,A.A., Ahmad,W. and
            Leal,S.M.
  TITLE     Novel sequence variants in the TMIE gene in families with autosomal
            recessive nonsyndromic hearing impairment
  JOURNAL   J Mol Med (Berl) 84 (3), 226-231 (2006)
   PUBMED   16389551
REFERENCE   6  (bases 1 to 1765)
  AUTHORS   Mitchem,K.L., Hibbard,E., Beyer,L.A., Bosom,K., Dootz,G.A.,
            Dolan,D.F., Johnson,K.R., Raphael,Y. and Kohrman,D.C.
  TITLE     Mutation of the novel gene Tmie results in sensory cell defects in
            the inner ear of spinner, a mouse model of human hearing loss DFNB6
  JOURNAL   Hum Mol Genet 11 (16), 1887-1898 (2002)
   PUBMED   12140191
  REMARK    GeneRIF: genetic mapping data support human TMIE as the gene
            affected at DFNB6, a non-syndromic hearing loss locus
REFERENCE   7  (bases 1 to 1765)
  AUTHORS   Petit,C.
  TITLE     Genes responsible for human hereditary deafness: symphony of a
            thousand
  JOURNAL   Nat Genet 14 (4), 385-391 (1996)
   PUBMED   8944017
  REMARK    Review article
REFERENCE   8  (bases 1 to 1765)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
REFERENCE   9  (bases 1 to 1765)
  AUTHORS   Fukushima,K., Ramesh,A., Srisailapathy,C.R., Ni,L., Wayne,S.,
            O'Neill,M.E., Van Camp,G., Coucke,P., Jain,P., Wilcox,E.R.,
            Smith,S.D., Kenyon,J.B., Zbar,R.I. and Smith,R.J.
  TITLE     An autosomal recessive nonsyndromic form of sensorineural hearing
            loss maps to 3p-DFNB6
  JOURNAL   Genome Res 5 (3), 305-308 (1995)
   PUBMED   8593615
REFERENCE   10 (bases 1 to 1765)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC134504.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 24, 2019 this sequence version replaced NM_147196.2.
            
            Summary: This gene encodes a transmembrane inner ear protein.
            Studies in mouse suggest that this gene is required for normal
            postnatal maturation of sensory hair cells in the cochlea,
            including correct development of stereocilia bundles. This gene is
            one of multiple genes responsible for recessive non-syndromic
            deafness (DFNB), also known as autosomal recessive nonsyndromic
            hearing loss (ARNSHL), the most common form of congenitally
            acquired inherited hearing impairment. [provided by RefSeq, Mar
            2009].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (1).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY081842.1, BC126260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000643606.3/ ENSP00000494576.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-189               AC134504.2         54174-54362         c
            190-307             AC134504.2         49847-49964         c
            308-457             AC134504.2         46479-46628         c
            458-1765            AC134504.2         44868-46175         c
FEATURES             Location/Qualifiers
     source          1..1765
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3p21.31"
     gene            1..1765
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /note="transmembrane inner ear"
                     /db_xref="GeneID:259236"
                     /db_xref="HGNC:HGNC:30800"
                     /db_xref="MIM:607237"
     exon            1..189
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /inference="alignment:Splign:2.1.0"
     CDS             97..567
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; transmembrane inner ear protein; transmembrane
                     inner ear expressed protein"
                     /codon_start=1
                     /product="transmembrane inner ear expressed protein
                     isoform 1 precursor"
                     /protein_id="NP_671729.2"
                     /db_xref="CCDS:CCDS43081.1"
                     /db_xref="GeneID:259236"
                     /db_xref="HGNC:HGNC:30800"
                     /db_xref="MIM:607237"
                     /translation="MAGWPGAGPLCVLGGAALGVCLAGVAGQLVEPSTAPPKPKPPPL
                     TKETVVFWDMRLWHVVGIFSLFVLSIIITLCCVFNCRVPRTRKEIEARYLQRKAAKMY
                     TDKLETVPPLNELTEVPGEDKKKKKKKKKDSVDTVAIKVEEDEKNEAKKKKGEK"
     exon            190..307
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            308..457
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /inference="alignment:Splign:2.1.0"
     exon            458..1765
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1742..1747
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /note="hexamer: AATAAA"
     polyA_site      1765
                     /gene="TMIE"
                     /gene_synonym="DFNB6"
                     /note="major polyA site"
ORIGIN      
        1 caaagcccgt ggccaccgag cgccggctgg caggggcagt gaccggcggc cggcccgttc
       61 gtccctgggc tccgcaagcg gcgcggtggc acgaagatgg cggggtggcc gggcgcgggt
      121 cccctctgcg tgctgggcgg cgccgcactc ggggtgtgcc tcgcgggggt tgccgggcag
      181 ctggtggagc ccagcacggc cccacccaag cccaagccgc ctccgctgac caaggagaca
      241 gtggtgttct gggacatgcg cctgtggcac gtggtgggca tcttttcgct cttcgtgttg
      301 tccatcatca tcacgctgtg ctgtgtcttc aactgtcgtg tgccacggac ccggaaggag
      361 atcgaagccc ggtacctgca gcgaaaggca gccaagatgt acacagacaa gctggagact
      421 gtgccacccc tcaatgagct cacagaagtc ccaggagagg ataagaagaa gaagaagaag
      481 aagaagaagg acagtgtgga cacagtggcc atcaaagtag aggaggatga gaagaatgag
      541 gccaagaaga agaaaggaga gaaatgaaga catcctgggc agcttgggct ggcgggccct
      601 ggagctcaag ccgtggccgg ggtccaggca tgttggactc tgagctcatt tggggaccac
      661 agaggctgtg gtcagagagg gaagctgagg cccatggcca catcctcatg gcccatcagg
      721 ggcaggaacc agacaatctc gtaggtgtcc tgccccccag cctaggcttg gctcctttca
      781 ccccatccac atgggtactg tctcggcaga ggtggtctgg tgccaccgtc cctctgcaga
      841 tacactgctc tccccaccca gacctgcctg tctcccaccc tttctgccag ggatggcagt
      901 ggctgtgaag gagtaatggg atatggggtt acttcagcca ccctttctgg cacgaaatgg
      961 ctgaagtgca tgggtcaggg tgtgaggcca cacccagagt agccatgagg aggcagagag
     1021 ggtcactggg ggacactgtg gcagcaggag ggactctgtc tggccaggga ggagccccag
     1081 tggtgagaag acttccccaa gcctggcagg ggatccagct caagggagta agtagaggtg
     1141 gcttcagaaa tggaaccccc agcccagcag acatcaagct caaggcaatg ggctaccctc
     1201 atttcacacg ttgtgatgaa gctgaggctg ctgccaggcc cggcatgagg ccccgaggct
     1261 cgagctcggg gctgggggct gcagggctgg gtcaggggta cacagagcta aggccaatgg
     1321 gctagagggt gccggaaaga gagctggagt ctgggctcct cttgggaatc agagtatatt
     1381 taagaagcca agggggacct cgggctgttc tggtggcccc ttctatgccc agctgtgctg
     1441 ggaggtccca gggccctaga agatcacagc agggccttct gcctgctgac cataacagtg
     1501 ccagcttctt tgcagcttcc tcttctacca tttcccacta cgggcaccta aaagaagcat
     1561 ctctgaccag aagacaaagg cccaaatagc acctggggga gggaagatgc acagaggcac
     1621 ttccagatgg catcgaacag actaaggctc tgaaacctag gcctgaacac taaggtctcg
     1681 agacaccaga ggtttctgag ccaggagagc ctgctggaaa agcagcctgc agagatttgt
     1741 gaataaagct gattgccttc tcaga
//
