LOCUS       NM_001079827             823 bp    mRNA    linear   PRI 30-JUL-2024
DEFINITION  Homo sapiens clarin 2 (CLRN2), mRNA.
ACCESSION   NM_001079827 XM_928140 XM_940172
VERSION     NM_001079827.2
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 823)
  AUTHORS   Vona,B., Mazaheri,N., Lin,S.J., Dunbar,L.A., Maroofian,R.,
            Azaiez,H., Booth,K.T., Vitry,S., Rad,A., Ruschendorf,F.,
            Varshney,P., Fowler,B., Beetz,C., Alagramam,K.N., Murphy,D.,
            Shariati,G., Sedaghat,A., Houlden,H., Petree,C., VijayKumar,S.,
            Smith,R.J.H., Haaf,T., El-Amraoui,A., Bowl,M.R., Varshney,G.K. and
            Galehdari,H.
  TITLE     A biallelic variant in CLRN2 causes non-syndromic hearing loss in
            humans
  JOURNAL   Hum Genet 140 (6), 915-931 (2021)
   PUBMED   33496845
  REMARK    GeneRIF: A biallelic variant in CLRN2 causes non-syndromic hearing
            loss in humans.
REFERENCE   2  (bases 1 to 823)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 823)
  AUTHORS   Dunbar,L.A., Patni,P., Aguilar,C., Mburu,P., Corns,L., Wells,H.R.,
            Delmaghani,S., Parker,A., Johnson,S., Williams,D., Esapa,C.T.,
            Simon,M.M., Chessum,L., Newton,S., Dorning,J., Jeyarajan,P.,
            Morse,S., Lelli,A., Codner,G.F., Peineau,T., Gopal,S.R.,
            Alagramam,K.N., Hertzano,R., Dulon,D., Wells,S., Williams,F.M.,
            Petit,C., Dawson,S.J., Brown,S.D., Marcotti,W., El-Amraoui,A. and
            Bowl,M.R.
  TITLE     Clarin-2 is essential for hearing by maintaining stereocilia
            integrity and function
  JOURNAL   EMBO Mol Med 11 (9), e10288 (2019)
   PUBMED   31448880
  REMARK    GeneRIF: Utilizing data from the UK Biobank study, we could show
            that CLRN2 is involved in human non-syndromic progressive hearing
            loss.
REFERENCE   4  (bases 1 to 823)
  AUTHORS   Adato,A., Vreugde,S., Joensuu,T., Avidan,N., Hamalainen,R.,
            Belenkiy,O., Olender,T., Bonne-Tamir,B., Ben-Asher,E., Espinos,C.,
            Millan,J.M., Lehesjoki,A.E., Flannery,J.G., Avraham,K.B.,
            Pietrokovski,S., Sankila,E.M., Beckmann,J.S. and Lancet,D.
  TITLE     USH3A transcripts encode clarin-1, a four-transmembrane-domain
            protein with a possible role in sensory synapses
  JOURNAL   Eur J Hum Genet 10 (6), 339-350 (2002)
   PUBMED   12080385
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC127863.1 and AC093600.3.
            
            On Oct 2, 2008 this sequence version replaced NM_001079827.1.
            
            Summary: This gene belongs to the clarin family of genes. The
            clarins appear to belong to a large superfamily of small integral
            membrane glycoproteins with four transmembrane domains. The exact
            function of this gene is unknown. [provided by RefSeq, Oct 2008].
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC127863.1, EG328084.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000511148.2/ ENSP00000424711.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-311               BC127863.1         1-311
            312-312             AC093600.3         150409-150409
            313-823             BC127863.1         313-823
FEATURES             Location/Qualifiers
     source          1..823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4p15.32"
     gene            1..823
                     /gene="CLRN2"
                     /gene_synonym="DFNB117"
                     /note="clarin 2"
                     /db_xref="GeneID:645104"
                     /db_xref="HGNC:HGNC:33939"
                     /db_xref="MIM:618988"
     exon            1..355
                     /gene="CLRN2"
                     /gene_synonym="DFNB117"
                     /inference="alignment:Splign:2.1.0"
     CDS             103..801
                     /gene="CLRN2"
                     /gene_synonym="DFNB117"
                     /codon_start=1
                     /product="clarin-2"
                     /protein_id="NP_001073296.1"
                     /db_xref="CCDS:CCDS47032.1"
                     /db_xref="GeneID:645104"
                     /db_xref="HGNC:HGNC:33939"
                     /db_xref="MIM:618988"
                     /translation="MPGWFKKAWYGLASLLSFSSFILIIVALVVPHWLSGKILCQTGV
                     DLVNATDRELVKFIGDIYYGLFRGCKVRQCGLGGRQSQFTIFPHLVKELNAGLHVMIL
                     LLLFLALALALVSMGFAILNMIQVPYRAVSGPGGICLWNVLAGGVVALAIASFVAAVK
                     FHDLTERIANFQEKLFQFVVVEEQYEESFWICVASASAHAANLVVVAISQIPLPEIKT
                     KIEEATVTAEDILY"
     exon            356..535
                     /gene="CLRN2"
                     /gene_synonym="DFNB117"
                     /inference="alignment:Splign:2.1.0"
     exon            536..823
                     /gene="CLRN2"
                     /gene_synonym="DFNB117"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 tggaagagct gaccttggag cagagcattg ccgagtatct gaaagatgtc aatgaccctc
       61 gctgctgctc ggagaccttg gggatgacct gcacccacta gcatgcctgg atggttcaaa
      121 aaggcgtggt atgggctggc gtctttactc agcttctcct ccttcatcct gatcatcgtt
      181 gccctggtag tgccccactg gctgagtggg aaaatccttt gtcagactgg agtggatctg
      241 gtcaacgcca cagacagaga gctggtcaag ttcattgggg acatttacta cgggctcttc
      301 cgagggtgta aagtgcggca gtgtgggctt gggggccgcc aatcccaatt cacgatcttc
      361 ccacacctgg tgaaggagct caacgcaggc cttcatgtga tgattctgct gctcctcttc
      421 ctggccttgg ccctggctct ggtcagcatg ggctttgcca ttcttaacat gatccaggtc
      481 ccgtaccggg cagtcagcgg tcctgggggc atctgcctat ggaatgtcct ggcaggcggc
      541 gtcgtggcgt tagccatcgc cagcttcgtg gctgcggtga aatttcacga cctgacggaa
      601 cgaatcgcca actttcagga gaagctcttc cagtttgtgg tggtggaaga acagtatgaa
      661 gagtcgtttt ggatctgcgt ggccagcgct tcggcccatg ctgcaaactt ggtcgtggtg
      721 gcgatcagtc aaattcccct ccctgagatt aagaccaaaa tcgaagaggc cacggtcaca
      781 gctgaggata tcttgtatta atagccttcc cctgttcaca acc
//
