LOCUS       NM_001257308            2339 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens membrane integral NOTCH2 associated receptor 2
            (MINAR2), mRNA.
ACCESSION   NM_001257308
VERSION     NM_001257308.2
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 2339)
  AUTHORS   Lotfollahzadeh,S., Xia,C., Amraei,R., Hua,N., Kandror,K.V.,
            Farmer,S.R., Wei,W., Costello,C.E., Chitalia,V. and Rahimi,N.
  TITLE     Inactivation of Minar2 in mice hyperactivates mTOR signaling and
            results in obesity
  JOURNAL   Mol Metab 73, 101744 (2023)
   PUBMED   37245847
  REMARK    GeneRIF: Inactivation of Minar2 in mice hyperactivates mTOR
            signaling and results in obesity.
REFERENCE   2  (bases 1 to 2339)
  AUTHORS   Gao,G., Guo,S., Zhang,Q., Zhang,H., Zhang,C. and Peng,G.
  TITLE     Kiaa1024L/Minar2 is essential for hearing by regulating cholesterol
            distribution in hair bundles
  JOURNAL   Elife 11, e80865 (2022)
   PUBMED   36317962
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2339)
  AUTHORS   Bademci,G., Lachgar-Ruiz,M., Deokar,M., Zafeer,M.F., Abad,C.,
            Yildirim Baylan,M., Ingham,N.J., Chen,J., Sineni,C.J., Vadgama,N.,
            Karakikes,I., Guo,S., Duman,D., Singh,N., Harlalka,G., Jain,S.P.,
            Chioza,B.A., Walz,K., Steel,K.P., Nasir,J. and Tekin,M.
  TITLE     Mutations in MINAR2 encoding membrane integral NOTCH2-associated
            receptor 2 cause deafness in humans and mice
  JOURNAL   Proc Natl Acad Sci U S A 119 (26), e2204084119 (2022)
   PUBMED   35727972
  REMARK    GeneRIF: Mutations in MINAR2 encoding membrane integral
            NOTCH2-associated receptor 2 cause deafness in humans and mice.
REFERENCE   4  (bases 1 to 2339)
  AUTHORS   Ho,R.X., Amraei,R., De La Cena,K.O.C., Sutherland,E.G.,
            Mortazavi,F., Stein,T., Chitalia,V. and Rahimi,N.
  TITLE     Loss of MINAR2 impairs motor function and causes Parkinson's
            disease-like symptoms in mice
  JOURNAL   Brain Commun 2 (1), fcaa047 (2020)
   PUBMED   32954300
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2339)
  AUTHORS   Schmutz,J., Martin,J., Terry,A., Couronne,O., Grimwood,J.,
            Lowry,S., Gordon,L.A., Scott,D., Xie,G., Huang,W., Hellsten,U.,
            Tran-Gyamfi,M., She,X., Prabhakar,S., Aerts,A., Altherr,M.,
            Bajorek,E., Black,S., Branscomb,E., Caoile,C., Challacombe,J.F.,
            Chan,Y.M., Denys,M., Detter,J.C., Escobar,J., Flowers,D.,
            Fotopulos,D., Glavina,T., Gomez,M., Gonzales,E., Goodstein,D.,
            Grigoriev,I., Groza,M., Hammon,N., Hawkins,T., Haydu,L., Israni,S.,
            Jett,J., Kadner,K., Kimball,H., Kobayashi,A., Lopez,F., Lou,Y.,
            Martinez,D., Medina,C., Morgan,J., Nandkeshwar,R., Noonan,J.P.,
            Pitluck,S., Pollard,M., Predki,P., Priest,J., Ramirez,L.,
            Retterer,J., Rodriguez,A., Rogers,S., Salamov,A., Salazar,A.,
            Thayer,N., Tice,H., Tsai,M., Ustaszewska,A., Vo,N., Wheeler,J.,
            Wu,K., Yang,J., Dickson,M., Cheng,J.F., Eichler,E.E., Olsen,A.,
            Pennacchio,L.A., Rokhsar,D.S., Richardson,P., Lucas,S.M.,
            Myers,R.M. and Rubin,E.M.
  TITLE     The DNA sequence and comparative analysis of human chromosome 5
  JOURNAL   Nature 431 (7006), 268-274 (2004)
   PUBMED   15372022
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC008591.6.
            
            On May 31, 2019 this sequence version replaced NM_001257308.1.
            
            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.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2148874,
                              SAMN03267761 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000564719.2/ ENSP00000454268.1
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-262               AC008591.6         112129-112390       c
            263-490             AC008591.6         99879-100106        c
            491-2339            AC008591.6         93752-95600         c
FEATURES             Location/Qualifiers
     source          1..2339
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q23.3"
     gene            1..2339
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /note="membrane integral NOTCH2 associated receptor 2"
                     /db_xref="GeneID:100127206"
                     /db_xref="HGNC:HGNC:33914"
                     /db_xref="MIM:620215"
     exon            1..262
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..670
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /note="UPF0258 protein KIAA1024-like; KIAA1024 like; major
                     intrinsically disordered NOTCH2-associated receptor 2"
                     /codon_start=1
                     /product="major intrinsically disordered NOTCH2-binding
                     receptor 1-like"
                     /protein_id="NP_001244237.1"
                     /db_xref="CCDS:CCDS58966.1"
                     /db_xref="GeneID:100127206"
                     /db_xref="HGNC:HGNC:33914"
                     /db_xref="MIM:620215"
                     /translation="MDLSVLPNNNHPDKFLQLDVKSLTRSSALLQASLVRFPGGNYPA
                     AQHWQNLVYSQREKKNIAAQRIRGSSADSLVTADSPPPSMSSVMKNNPLYGDLSLEEA
                     MEERKKNPSWTIEEYDKHSLHTNLSGHLKENPNDLRFWLGDMYTPGFDTLLKKEEKQE
                     KHSKFCRMGLILLVVISILVTIVTIITFFT"
     exon            263..490
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /inference="alignment:Splign:2.1.0"
     exon            491..2339
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /inference="alignment:Splign:2.1.0"
     regulatory      799..804
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /note="hexamer: ATTAAA"
     polyA_site      819
                     /gene="MINAR2"
                     /gene_synonym="DFNB120; KIAA1024L"
                     /note="major polyA site"
ORIGIN      
        1 agatgcagtc agagcatcct caggcacatt aataatggag gagtctgaca agagcagctt
       61 tgcctgtctt tgttttccac tgtaggtgaa gggagacatg gatctctctg ttttgccaaa
      121 taacaaccat cctgacaaat tcctgcagct tgacgtaaag tctttaacga ggagctcagc
      181 cctccttcag gccagcctgg tgaggtttcc gggtggaaat tatcctgctg cacaacactg
      241 gcaaaacctt gtctactcac agagggaaaa gaagaatatt gctgctcaac gaattagggg
      301 atccagtgca gacagccttg tcactgctga tagcccccca ccatccatgt catcagttat
      361 gaagaataac ccactctatg gtgacctaag tttggaggaa gctatggaag aaagaaaaaa
      421 gaacccctca tggaccattg aggaatatga caaacattcc ctgcacacaa acctctctgg
      481 acatctgaag gaaaatccta atgacctgcg gttttggttg ggagacatgt acactccagg
      541 ttttgacact ttattgaaaa aggaagagaa acaagagaag cattcaaaat tctgtcgtat
      601 gggtctgatt ttacttgtcg ttatctccat cttggttacc atagtgacta tcattacttt
      661 tttcacctga ggaaactgca acaatcagag ctactttaaa tttcctaaaa atttttctga
      721 taaacatttg aaaccccccc caccaaaata acaaaaaaac acatgtacat gcagtgtgaa
      781 tggattgttg attgtattat taaatgtaat tgtcctgaag aatgtgaatg tcaggcgtgg
      841 tatgctggct tctccacttt gttctataaa agctttctaa gagtgccacc ctgaactttg
      901 ggaagcagga attctgagga ccataatcac agaatagtca ctatatgcaa cccacattaa
      961 atatctttat agggagcaaa cagtatcaaa aattgtcagc agctttgttt tcatgcttaa
     1021 actatattaa ccttgtttta aaaatactgt taactcttta ccacctcatc ctcctgtgat
     1081 caccagaaaa gtttgagctg ataatttttt ttttaaccaa ctgctgggta gctaggataa
     1141 aaatcttcca gttgtgctgc caactgagtt agattcattc tctgttttat tttcctgtat
     1201 ttctgtttaa gtcagaaaaa aggaaaaagg gaaatatctt attcaaatct attcttattt
     1261 ccccagtaat catctatgat gccccaattt catgttgcaa ttttaataga attaaacttg
     1321 gataggccat agttacataa ttaattacat ttagatccaa tttatccaaa ttggctgtga
     1381 cccctggtgg cagtcagtgt gcatatatta ccaaccatgg tctaggttgg gggtccctag
     1441 gaaagcagag ggaatactgc taagagaaca gagtttgaag cctaactgct acttgctaac
     1501 agactctggc aagttattct ctcagagaag gaatgatatt acctgcccaa cagggctggc
     1561 caaaggacca aatacaaaac aggtatgaac agtatctggc tcgaaataag cagttgctta
     1621 attaaaggca gttgttatta ttaatttatg ctagctaatt gacaacctga gtttaccttc
     1681 cattgtctgc agatacctgg ggacatggtt gtagacacag atggggaatc aagtcaccat
     1741 cctgcccttc cttctagaac atcctttcct aagcccctca ttcccactct tttctcatct
     1801 ttaaacaacc cagccaaagg ctatcttatg caagaaacaa aagagggact ttctcttctt
     1861 ctcatgagcc taaagtcaga ttttgtccct tgatattgcc atatcatttt gttgtatttg
     1921 tcttaaagat gcttgaaata aagtacagta aaagacagtt tgggctgggc gcggtggctc
     1981 gcgcctgtaa tcccagcact ttgggaggct gaggtgggtg gatcatgagg tcaggagttc
     2041 gagaccagcc tggccaacat agtgaaaccc cgtctctatt aaaaatacaa aaattagccg
     2101 gggcttggtg gcagacacct gtagtctcag ctacttggga ggctgaggca ggagaatctc
     2161 tcgaaccctg gaggcagagg ttgcagtgag ccgagattgt gccactgcac tctagcctgg
     2221 gtgacagagt gagacttcca taaaaaaaaa aaaaaaaaaa aaacaaacaa acaaacaaaa
     2281 aaaaccccaa aaaaagagac agttttactg gacaataaag ttgttgtgta gaaaaaaaa
//
