LOCUS       NM_001364008            7830 bp    mRNA    linear   PRI 08-APR-2024
DEFINITION  Homo sapiens notch 2 N-terminal like B (NOTCH2NLB), transcript
            variant 2, mRNA.
ACCESSION   NM_001364008 XM_006711703
VERSION     NM_001364008.2
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 7830)
  AUTHORS   Lodewijk,G.A., Fernandes,D.P., Vretzakis,I., Savage,J.E. and
            Jacobs,F.M.J.
  TITLE     Evolution of Human Brain Size-Associated NOTCH2NL Genes Proceeds
            toward Reduced Protein Levels
  JOURNAL   Mol Biol Evol 37 (9), 2531-2548 (2020)
   PUBMED   32330268
  REMARK    GeneRIF: Evolution of Human Brain Size-Associated NOTCH2NL Genes
            Proceeds toward Reduced Protein Levels.
REFERENCE   2  (bases 1 to 7830)
  AUTHORS   Dougherty,M.L., Underwood,J.G., Nelson,B.J., Tseng,E., Munson,K.M.,
            Penn,O., Nowakowski,T.J., Pollen,A.A. and Eichler,E.E.
  TITLE     Transcriptional fates of human-specific segmental duplications in
            brain
  JOURNAL   Genome Res 28 (10), 1566-1576 (2018)
   PUBMED   30228200
REFERENCE   3  (bases 1 to 7830)
  AUTHORS   Suzuki,I.K., Gacquer,D., Van Heurck,R., Kumar,D., Wojno,M.,
            Bilheu,A., Herpoel,A., Lambert,N., Cheron,J., Polleux,F.,
            Detours,V. and Vanderhaeghen,P.
  TITLE     Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through
            Delta/Notch Regulation
  JOURNAL   Cell 173 (6), 1370-1384 (2018)
   PUBMED   29856955
  REMARK    GeneRIF: NOTCH2NL can expand human cortical progenitors and
            increase their neuronal output at the clonal level through
            cell-autonomous activation of the Notch pathway.
REFERENCE   4  (bases 1 to 7830)
  AUTHORS   Fiddes,I.T., Lodewijk,G.A., Mooring,M., Bosworth,C.M., Ewing,A.D.,
            Mantalas,G.L., Novak,A.M., van den Bout,A., Bishara,A.,
            Rosenkrantz,J.L., Lorig-Roach,R., Field,A.R., Haeussler,M.,
            Russo,L., Bhaduri,A., Nowakowski,T.J., Pollen,A.A., Dougherty,M.L.,
            Nuttle,X., Addor,M.C., Zwolinski,S., Katzman,S., Kriegstein,A.,
            Eichler,E.E., Salama,S.R., Jacobs,F.M.J. and Haussler,D.
  TITLE     Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical
            Neurogenesis
  JOURNAL   Cell 173 (6), 1356-1369 (2018)
   PUBMED   29856954
  REMARK    GeneRIF: the emergence of human-specific NOTCH2NL genes may have
            contributed to the rapid evolution of the larger human neocortex,
            accompanied by loss of genomic stability at the 1q21.1 locus and
            resulting recurrent neurodevelopmental disorders
REFERENCE   5  (bases 1 to 7830)
  AUTHORS   Florio,M., Heide,M., Pinson,A., Brandl,H., Albert,M., Winkler,S.,
            Wimberger,P., Huttner,W.B. and Hiller,M.
  TITLE     Evolution and cell-type specificity of human-specific genes
            preferentially expressed in progenitors of fetal neocortex
  JOURNAL   Elife 7, e32332 (2018)
   PUBMED   29561261
  REMARK    Publication Status: Online-Only
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC239811.3.
            
            On Jun 16, 2021 this sequence version replaced NM_001364008.1.
            
            Transcript Variant: This variant (2) uses an alternate splice site
            at a 5' exon compared to variant 1. This difference is predicted to
            result in the use of a downstream start codon and an isoform (2)
            with a shorter and distinct N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7410570.22626.1, MH721899.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000593495.4/ ENSP00000472124.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-285               AC239811.3         245707-245991       c
            286-359             AC239811.3         206261-206334       c
            360-619             AC239811.3         181936-182195       c
            620-955             AC239811.3         173655-173990       c
            956-7830            AC239811.3         166530-173404       c
FEATURES             Location/Qualifiers
     source          1..7830
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q21.2"
     gene            1..7830
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /note="notch 2 N-terminal like B"
                     /db_xref="GeneID:100996763"
                     /db_xref="HGNC:HGNC:53923"
                     /db_xref="MIM:618024"
     exon            1..285
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /inference="alignment:Splign:2.1.0"
     CDS             283..1032
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /note="isoform 2 is encoded by transcript variant 2; notch
                     homolog 2 N-terminal-like protein B; Notch homolog 2
                     N-terminal-like protein A"
                     /codon_start=1
                     /product="notch homolog 2 N-terminal-like protein B
                     isoform 2"
                     /protein_id="NP_001350937.1"
                     /db_xref="CCDS:CCDS86012.1"
                     /db_xref="GeneID:100996763"
                     /db_xref="HGNC:HGNC:53923"
                     /db_xref="MIM:618024"
                     /translation="MCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEK
                     NRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDT
                     YECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNEC
                     DIPGHCQHGGICLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTF
                     ECNCLPETVRRGTELWERDREVWNGKEHDEN"
     exon            286..359
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /inference="alignment:Splign:2.1.0"
     exon            360..619
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /inference="alignment:Splign:2.1.0"
     exon            620..955
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /inference="alignment:Splign:2.1.0"
     exon            956..7830
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      7806..7811
                     /regulatory_class="polyA_signal_sequence"
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /note="hexamer: AATACA"
     polyA_site      7830
                     /gene="NOTCH2NLB"
                     /gene_synonym="N2N; NOTCH2NL; NOTCH2NLA"
                     /note="major polyA site"
ORIGIN      
        1 agccaaactt cgggcggctg aggcggcggc cgaggagcgg cggactccgg gcgcggggag
       61 tcgaggcatt tgcgcctggg cttcggagcg tagcgccagg gcctgagcct ttgaagcagg
      121 aggaggggag gagagagtgg ggctcctcta tcgggacccc ctccccatgt ggatctgccc
      181 aggcggcggc ggcggaggag gcgaccgaga agatgcccgc cctgcgcccc gctctgctgt
      241 gggcgctgct ggcgctctgg ctgtgctgcg cgacccccgc gcatgtgtcg agatggctat
      301 gaaccctgtg taaatgaagg aatgtgtgtt acctaccaca atggcacagg atactgcaaa
      361 tgtccagaag gcttcttggg ggaatattgt caacatcgag acccctgtga gaagaaccgc
      421 tgccagaatg gtgggacttg tgtggcccag gccatgctgg ggaaagccac gtgccgatgt
      481 gcctcagggt ttacaggaga ggactgccaa tactcgacat ctcatccatg ctttgtgtct
      541 cgaccttgcc tgaatggcgg cacatgccat atgctcagcc gggataccta tgagtgcacc
      601 tgtcaagtcg ggtttacagg taaggagtgc caatggaccg atgcctgcct gtctcatccc
      661 tgtgcaaatg gaagtacctg taccactgtg gccaaccagt tctcctgcaa atgcctcaca
      721 ggcttcacag ggcagaagtg tgagactgat gtcaatgagt gtgacattcc aggacactgc
      781 cagcatggtg gcatctgcct caacctgcct ggttcctacc agtgccagtg ccttcagggc
      841 ttcacaggcc agtactgtga cagcctgtat gtgccctgtg caccctcgcc ttgtgtcaat
      901 ggaggcacct gtcggcagac tggtgacttc acttttgagt gcaactgcct tccagaaaca
      961 gtgagaagag gaacagagct ctgggaaaga gacagggaag tctggaatgg aaaagaacac
     1021 gatgagaatt agacactgga aaatatgtat gtgtggttaa taaagtgctt taaactgaat
     1081 tgacattaac agtgggtgat caactttact atgtgcttgt gcttttgctt ttgatggagt
     1141 aattcattgt tttcttatcc acctaaatgc acccagctgc ccttgatttt ctctgggcta
     1201 ctggccttca caaccctctc ccatgtaccc tctctgactt tggggtaacc ctcccctaac
     1261 ttaaagctag agaattctga aactgaggag gggatcctct gttaatcagt gagcactttt
     1321 tgatgagctg atagatgata tatgagagac tatgcgtggc acaatacttt gttacactct
     1381 tcactgatac aagtgttcta gagtgtacac acaacccaaa gatagaaata aaaagaggag
     1441 cagtgtcggg gagcttgggg cctggtgttc catggagagg gagaaaggaa caagcttgac
     1501 caattcattc aactccttat aaaaatgatg aggaggctga aaaccaagaa ttttgattgg
     1561 gaacagaata caagcagctg aatcagatga attactaagc cacaaagatc ctgtttttat
     1621 acaaatatcc ttagtacaaa aacaaaagaa ggaaaactgt aggggggagt aatgtgctaa
     1681 gtaagcagaa ttgcctcaaa aagaagttgt tctagttact ctttcagagt gggaatctta
     1741 gattctggta ttgtggatat ggttcacata taatgggatt gtgtgtttta ttttggaggg
     1801 attaaaggtc atagtttggt cctcagtata aaatcaactg gtaatttatt catttcattt
     1861 ggtaaaaatg tattgactgc ctgctatgtt ctaggcacca tgctatgtat ttggaataca
     1921 gctatacaaa gcattgtcac ataattgaaa tgaaaatttt atattattta agtcacaaga
     1981 acaagctatt taattatatt acttttagtt tctcttttaa taaagaatag ataatgctat
     2041 cattctagat actaaataag tattttctta acataatatt actatccact ttatcttgta
     2101 gaagaaataa ctaaaataca tctgtcttca ctcctgtatt tgtttgcatt ttaaggatta
     2161 aagacagaaa tagaaatgta aacaacttta ttttgaaaat atttcaacac tgcaaatatc
     2221 tctgggtctg atattctagt aatctaattg gctagtaatt gatgttagtg tgatttattg
     2281 ttgaaggcta aatgtgtttt tcagtttcaa gaaaattgct tttaataatt gcctagaaca
     2341 agaggttgat ttggcagcaa gatgttgacg ggaagttaga gaagtcaata aaggaagttt
     2401 ttagctgaga gagagtgatt attcactccc atagcctctg cattgttatc cattagccac
     2461 gataagaacc ttagggaatt ctgagagtgt gtccaggaaa ggatctgtca aactagaata
     2521 gtatctcctc cttgagaaag gaaataacca aggattctgc agctgagagg ctgccagggc
     2581 tagtgaaata gagtaaggaa atcttggctg tctcttattc tctggttgta gtttaacgca
     2641 agacacttat ttactcactg atggtgtgtg tgtgtgtggg aggggagatt agcatgagga
     2701 gtgggaatgg ggagattcaa tgaagagaaa actgacattt ttttggtgac tcaggaactg
     2761 tgccaggtac ttccatgctt attagctcaa ttacacaaaa atcttgggac caggtattat
     2821 ttttcaagtc ttcccacatg aagtaactga agtttggaga tgttaagtga ttcacccaaa
     2881 gttgtacagc taatatgtgg ttaggctggg tcctgaaacc gaggcagttt attttcaaag
     2941 cctttgcttt gtgcatctta ctgcgccaca ttgcactgca catctgcttc ctgaaagcac
     3001 tttgtaggtg tgtaaaactt ttcgttaaat gctttaagct gtttgggtta aaaatatatg
     3061 ttcatgttat aagaaaacca agacactcct aattataatc aaatagtact tgttacatat
     3121 caatgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtgtgtgt gtgtatatgg cgttgtgcag
     3181 atgtttaaaa gtagttacat agactagttc ttgcttttca gggtcccata atctaaacca
     3241 gatgacttca gctttggata aatatataga aggaaattta aagagaattc aaaacaatag
     3301 atgatgcagt gacactgtga ataaatgtta tttatacagt ttgtaagatt tcatgctcat
     3361 tgttcatatg tcccaggtgg agttcagaaa atattctctt catttccaca aaggggaata
     3421 gtgcctagag atggttttct tttaaaaagt ccttttcata atgcagtgcc cttccttcca
     3481 ttgcccttca ttccattgct tcccatgctt gtcaagagac taaaatgtta cttatagtaa
     3541 tagtcactat ctcaatgtaa atagcaccct tatttgatga gaattattat ttcagttcta
     3601 aaaatgggga aacaaagtca gcaggaggca aagtagcttg ttaaagtatt ctgcaacttt
     3661 caaatggttg cttccactgc atttcacgtc ttggcacttc taattgaggg ttactctaac
     3721 caccctattt aaaattgtaa ctgtccccca cccccttaat tactaaccct ggtctacttt
     3781 ttgttttctt tttctgtaac tcttatcttc ttactatata atttatacta tataatttac
     3841 ttcattatgt ctattgttca ttgtctgtct tttccaaatt ctactgcctc ttaccctctc
     3901 cagaatgaaa actagtatct ttgtttttgt ttactgatgt aacccaaaca cctacaaaca
     3961 gtgcccagta tatactaggc ccacaaatat atattggctg actgactgta tggtttagta
     4021 tcatgtcata gtattgagac tgtaactttg gtcttctcat tttcttcttt gtattgtgcg
     4081 tcctagactt agtttggcct ctccttttgt ccttgtatac tctaatactg gataagaatt
     4141 ttggagtctt tttcaactct gagtcagtga atgccacata acttagtgac tatatttaaa
     4201 tggttaattt acaatttttt ccctgcaaag gatactgtag tcactgtgag tattttagta
     4261 ttattgtagg actcaagagg gaattaaaac tacaaaaatg actcatcttg tatgacacag
     4321 aaagaaatgt ttcttcacag agggaggaga aaaatatctt caagagagaa ctaatagaat
     4381 caaatcaatg aaccatgtct catctttttg gataagtaac tgttagtaat ccagacactt
     4441 catgagcttt cattatgtaa agtctttagc agaagctaaa ggaggggcac caaccacagt
     4501 aattttaact taagaacaaa atggagcatg aaaataaatt attaaatcat ttactcccac
     4561 tatttttggg ttagggccaa taatggggag agaaagaggt agactagttt tgtgtttgtg
     4621 gctattttaa tagagtagca caagtaatca aaaaacagta ggctgttttg aatttactgg
     4681 ctgtccctta tgagttcaca gttagattgg actgtcctca atgtactttc ttttttttct
     4741 ttctttccca catctcttta tttctctgat tttgtttaaa cttcataaag agctctctga
     4801 tctttccttt ccaaacaatg aaggtttatc ctttgtaaac tacctctgta ctccacaggc
     4861 tgatgatatg tgatatccct atatcattaa agtaaagcct aagcacattc tatggctttt
     4921 gtgtctactc tgttgttgct gagcttatga actattagaa ataactccct cttgcatttt
     4981 cacacatggg gaatgtgatg ttctcttggg tattatgcta atcatatttt ggcaggtttc
     5041 tctggagcag atgcagaaat gatcatacca ctttccaggg tgtattattt tagctccttt
     5101 gacttgggcc ctaagtctgt tttacctgat gttcctgaaa gatgttcctg atgtccttca
     5161 ctgttctttc atgctggatg ttcttgccta tgctgcctcc tcagctatca ccctctcttc
     5221 ccctttttaa tgtagaactc attcttaatg atttgtcaaa ggcaccctat ttcactgaaa
     5281 tgccttctat attccctacc ctccaagtgg attgtagacc ttctaaggtc ttttgacatc
     5341 tgcatatctc tagcacagca cttatcacgg tgattattta tctgttcatc tttccaagta
     5401 gacactctca ttttaactcc ctaccctagt cgccagcatc cccagcatag tgcctgtcat
     5461 aaaatggtgc cacaatgaaa atttgaaaaa tgaatgaacg tgataaacat agatgagaat
     5521 cctatattct acaatttttt aaatgtactg aaattattct ttttgaatcc tcctatttat
     5581 ttctgtgact tctttggtga caaagttaga aaaaagtgga ggtcagtagg gagatatgaa
     5641 gggacgcagg tggaagcagt gagcctgggc gggtgatgga gtgggagata cgtggcacag
     5701 gggtcagtga gttaatctgg gctcattcag agaatggaag gtgtgtgcca agaaaactgg
     5761 ttggataggg ataggtcagg gattccctct tgcattctca cacttggggg catgtgtcat
     5821 tttcttttct tttctttttt tttttttttt tttttgagac ggagcatcgc tctttctccc
     5881 aggctggagt gcaatggtgc tatcttggct cactgcaacc tccacctccc gggttcaagc
     5941 tattctcatg tctcagcctt ccaagtagct gggactacag gtgcctgcca ccatgctcag
     6001 ctaatttttg tatttttagt agagatgggg tttcaccatg ttggtcaggt tggcctcgaa
     6061 ctcctgatct caggtgatcc acctgcctcg gcttctcaaa gtgctgggat tccaggcatg
     6121 agccaccatg cctggccgca tgtgtcattt tcttgggtgt tatactgatc gtatatttgc
     6181 aggtttgctt ttgtgacaga cttcttctgg gggaaaaaaa gtatccttct atctttttac
     6241 ttttgtccag ttccaggtat ccctgttttt ttcttcactc ttccttcctt gttcatggga
     6301 gtttttcttg aggacttcaa gcccagcttc ggagaatcct ggttgtgtca tctcatctcc
     6361 tttctgctct cttctctacc tagcctttcc accctcacac ctcccggggt ctgaaaatgg
     6421 aaagataagg gtgtttccct gaaagttgct cttctgtgtg gggatgacag gttctaaaga
     6481 ctcttttctg gtccctgccc tcattgccat gattaatcag ttaagtggcc cgaggtttta
     6541 taacagcaca gtcttaaaat gcttctccca agtttaattt ctctccattt gaccttttaa
     6601 ggatgtgaat tggctttaag cagtagactc cctttagtac ggcgctgtga gcctctcagt
     6661 gaatctgcta catccattcc acccacgggt ctggaaactt gtctgtttac ctttccctaa
     6721 aaacctaaga tatattttta agaagtgcct tgtaactttt catatagcct ttcccctact
     6781 ttgggtagac tgtttcttac aggaatttgg tagatctttc caaagagaat tctgtatctg
     6841 tatttttaaa gcataaatcc tgtcaacttt ggaggagaac tgatttggct tgagttttct
     6901 cagacatggg aacttttgac ctaagtttgt attttacatt gttgaaaggg aactccggga
     6961 tcccagaaaa catatggact gcaattgggt aaagcttctg ttccagaaat gcctcttctg
     7021 gacatttcat acaaatggaa acatgcagca tgtagtaatt tatgacagct tctttcactt
     7081 agcatgaggt tttcaaagtt cattgatgtg gtagcatttg tcagtactct gtgccttttt
     7141 atggctgaat aatattttat catatggatt taccacattt tatcatttta tttatccatc
     7201 atcagttgat tgacatttga gttgcttcta ctttttgagt attatcaata attctgttat
     7261 gaacattctt gtacaatttt ttggtagaca tttatcttca tatttcttgg atatatacct
     7321 aggagcagaa ttgctgcgtc agatggtaat gctgtttaac cttttcagga actgtcagac
     7381 tgttctgaag tgggtacatt attttacatt ccaaccagca gtgtatgaga attccagttt
     7441 ctccacatcc tcatcaacag ttgttattgt ctgtcttttt tattatattc atctgtaatg
     7501 tgaagtgttt atctcattgt ggttttgatt tacatttccc tgatggttga tgattttcaa
     7561 catcttttca tatacttatt agtcattatg tatcttcttt ggagaatgtc tgttcagatc
     7621 ctttacctac tttataattg gtttatcttt ttaatattga actgtaatag tttttaaaaa
     7681 atatatccta aatacaagtc tcttatcaga taatatgatt tgcagatatt ttctgtcatt
     7741 ctatgtactg tcttttcaca ttcttgatga tagacttttc agcccaaatg tttttaactt
     7801 gatggaatac aatttatttt ttcttttgtt
//
