LOCUS       NM_012410               3633 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens seizure related 6 homolog like 2 (SEZ6L2), transcript
            variant 1, mRNA.
ACCESSION   NM_012410 XM_939114
VERSION     NM_012410.4
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 3633)
  AUTHORS   Chen,L., Han,S., Li,Y., Zheng,Y. and Zhang,Q.
  TITLE     SEZ6L2, regulated by USF1, accelerates the growth and metastasis of
            breast cancer
  JOURNAL   Exp Cell Res 417 (1), 113194 (2022)
   PUBMED   35523305
  REMARK    GeneRIF: SEZ6L2, regulated by USF1, accelerates the growth and
            metastasis of breast cancer.
REFERENCE   2  (bases 1 to 3633)
  AUTHORS   Qiu,W.Q., Luo,S., Ma,S.A., Saminathan,P., Li,H., Gunnersen,J.M.,
            Gelbard,H.A. and Hammond,J.W.
  TITLE     The Sez6 Family Inhibits Complement by Facilitating Factor I
            Cleavage of C3b and Accelerating the Decay of C3 Convertases
  JOURNAL   Front Immunol 12, 607641 (2021)
   PUBMED   33936031
  REMARK    GeneRIF: The Sez6 Family Inhibits Complement by Facilitating Factor
            I Cleavage of C3b and Accelerating the Decay of C3 Convertases.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3633)
  AUTHORS   An,N., Zhao,Y., Lan,H., Zhang,M., Yin,Y. and Yi,C.
  TITLE     SEZ6L2 knockdown impairs tumour growth by promoting
            caspase-dependent apoptosis in colorectal cancer
  JOURNAL   J Cell Mol Med 24 (7), 4223-4232 (2020)
   PUBMED   32105413
  REMARK    GeneRIF: SEZ6L2 knockdown impairs tumour growth by promoting
            caspase-dependent apoptosis in colorectal cancer.
REFERENCE   4  (bases 1 to 3633)
  AUTHORS   Wang,L., Ling,X., Zhu,C., Zhang,Z., Wang,Z., Huang,S., Tang,Y.,
            He,S., Guo,Z. and He,X.
  TITLE     Upregulated Seizure-Related 6 Homolog-Like 2 Is a Prognostic
            Predictor of Hepatocellular Carcinoma
  JOURNAL   Dis Markers 2020, 7318703 (2020)
   PUBMED   32148567
  REMARK    GeneRIF: Upregulated Seizure-Related 6 Homolog-Like 2 Is a
            Prognostic Predictor of Hepatocellular Carcinoma.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3633)
  AUTHORS   Niu,N., Schaid,D.J., Abo,R.P., Kalari,K., Fridley,B.L., Feng,Q.,
            Jenkins,G., Batzler,A., Brisbin,A.G., Cunningham,J.M., Li,L.,
            Sun,Z., Yang,P. and Wang,L.
  TITLE     Genetic association with overall survival of taxane-treated lung
            cancer patients - a genome-wide association study in human
            lymphoblastoid cell lines followed by a clinical association study
  JOURNAL   BMC Cancer 12, 422 (2012)
   PUBMED   23006423
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3633)
  AUTHORS   Konyukh,M., Delorme,R., Chaste,P., Leblond,C., Lemiere,N.,
            Nygren,G., Anckarsater,H., Rastam,M., Stahlberg,O., Amsellem,F.,
            Gillberg,I.C., Mouren-Simeoni,M.C., Herbrecht,E., Fauchereau,F.,
            Toro,R., Gillberg,C., Leboyer,M. and Bourgeron,T.
  TITLE     Variations of the candidate SEZ6L2 gene on Chromosome 16p11.2 in
            patients with autism spectrum disorders and in human populations
  JOURNAL   PLoS One 6 (3), e17289 (2011)
   PUBMED   21394203
  REMARK    GeneRIF: These results provide an extensive ascertainment of the
            genetic variability of SEZ6L2 in human populations and do not
            support a major role for SEZ6L2 sequence variations in the
            susceptibility to autism spectrum disorders.
            Publication Status: Online-Only
REFERENCE   7  (bases 1 to 3633)
  AUTHORS   Bedoyan,J.K., Kumar,R.A., Sudi,J., Silverstein,F., Ackley,T.,
            Iyer,R.K., Christian,S.L. and Martin,D.M.
  TITLE     Duplication 16p11.2 in a child with infantile seizure disorder
  JOURNAL   Am J Med Genet A 152A (6), 1567-1574 (2010)
   PUBMED   20503337
REFERENCE   8  (bases 1 to 3633)
  AUTHORS   Polasek,O., Marusic,A., Rotim,K., Hayward,C., Vitart,V.,
            Huffman,J., Campbell,S., Jankovic,S., Boban,M., Biloglav,Z.,
            Kolcic,I., Krzelj,V., Terzic,J., Matec,L., Tometic,G., Nonkovic,D.,
            Nincevic,J., Pehlic,M., Zedelj,J., Velagic,V., Juricic,D.,
            Kirac,I., Belak Kovacevic,S., Wright,A.F., Campbell,H. and Rudan,I.
  TITLE     Genome-wide association study of anthropometric traits in Korcula
            Island, Croatia
  JOURNAL   Croat Med J 50 (1), 7-16 (2009)
   PUBMED   19260139
  REMARK    GeneRIF: Observational study and genome-wide association study of
            gene-disease association. (HuGE Navigator)
REFERENCE   9  (bases 1 to 3633)
  AUTHORS   Kumar,R.A., Marshall,C.R., Badner,J.A., Babatz,T.D., Mukamel,Z.,
            Aldinger,K.A., Sudi,J., Brune,C.W., Goh,G., Karamohamed,S.,
            Sutcliffe,J.S., Cook,E.H., Geschwind,D.H., Dobyns,W.B.,
            Scherer,S.W. and Christian,S.L.
  TITLE     Association and mutation analyses of 16p11.2 autism candidate genes
  JOURNAL   PLoS One 4 (2), e4582 (2009)
   PUBMED   19242545
  REMARK    GeneRIF: significant association between autism and a coding
            variant in the seizure-related gene SEZ6L2 gene; SEZ6L2 expression
            in human fetal brain was highest in post-mitotic cortical layers,
            hippocampus, amygdala, and thalamus
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   10 (bases 1 to 3633)
  AUTHORS   Ishikawa,N., Daigo,Y., Takano,A., Taniwaki,M., Kato,T., Tanaka,S.,
            Yasui,W., Takeshima,Y., Inai,K., Nishimura,H., Tsuchiya,E.,
            Kohno,N. and Nakamura,Y.
  TITLE     Characterization of SEZ6L2 cell-surface protein as a novel
            prognostic marker for lung cancer
  JOURNAL   Cancer Sci 97 (8), 737-745 (2006)
   PUBMED   16863507
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC120114.2, DA726021.1,
            AY358404.1, AJ245820.1 and BC000567.2.
            
            On Jun 2, 2019 this sequence version replaced NM_012410.3.
            
            Summary: This gene encodes a seizure-related protein that is
            localized on the cell surface. The gene is located in a region of
            chromosome 16p11.2 that is thought to contain candidate genes for
            autism spectrum disorders (ASD), though there is no evidence
            directly implicating this gene in ASD. Increased expression of this
            gene has been found in lung cancers, and the protein is therefore
            considered to be a novel prognostic marker for lung cancer.
            Alternative splicing of this gene results in multiple transcript
            variants. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) uses an alternate in-frame
            splice site in the 5' coding region, compared to variant 5,
            resulting in an isoform (1) that is shorter than isoform 5.
            
            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 :: AB105376.1, AJ245820.1 [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
            1-286               AC120114.2         77336-77621         c
            287-353             DA726021.1         1-67
            354-441             AY358404.1         56-143
            442-460             DA726021.1         153-171
            461-3285            AJ245820.1         14-2838
            3286-3633           BC000567.2         2668-3015
FEATURES             Location/Qualifiers
     source          1..3633
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..3633
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="seizure related 6 homolog like 2"
                     /db_xref="GeneID:26470"
                     /db_xref="HGNC:HGNC:30844"
                     /db_xref="MIM:616667"
     exon            1..610
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     CDS             532..3093
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; type I transmembrane receptor (seizure-related
                     protein); seizure related 6-like protein 2"
                     /codon_start=1
                     /product="seizure 6-like protein 2 isoform 1 precursor"
                     /protein_id="NP_036542.1"
                     /db_xref="CCDS:CCDS10658.1"
                     /db_xref="GeneID:26470"
                     /db_xref="HGNC:HGNC:30844"
                     /db_xref="MIM:616667"
                     /translation="MGTPRAQHPPPPQLLFLILLSCPWIQGLPLKEEEILPEPGSETP
                     TVASEALAELLHGALLRRGPEMGYLPGPPLGPEGGEEETTTTIITTTTVTTTVTSPVL
                     CNNNISEGEGYVESPDLGSPVSRTLGLLDCTYSIHVYPGYGIEIQVQTLNLSQEEELL
                     VLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRGGGFRIHYQAYLL
                     SCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGTRPSWNGETPSCM
                     ASCGGTIHNATLGRIVSPEPGGAVGPNLTCRWVIEAAEGRRLHLHFERVSLDEDNDRL
                     MVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPLLLSLRFEAFEED
                     RCFAPFLAHGNVTTTDPEYRPGALATFSCLPGYALEPPGPPNAIECVDPTEPHWNDTE
                     PACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGVHVQEEKRILLQVEILNVREGD
                     MLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPNPGLGQGFVLHFK
                     EVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSDILTCQWDLSWSA
                     APPACQKIMTCADPGEIANGHRTASDAGFPVGSHVQYRCLPGYSLEGAAMLTCYSRDT
                     GTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFFCYEGFELIGEVT
                     ITCVPGHPSQWTSQPPLCKVAYEELLDNRKLEVTQTTDPSRQLEGGNLALAILLPLGL
                     VIVLGSGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAGDTREYEVSI"
     exon            611..742
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            743..832
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            833..972
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1174
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1175..1360
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1361..1529
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1530..1693
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1694..1894
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1895..2033
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2034..2230
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2231..2425
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2426..2617
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2618..2809
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2810..2848
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2849..2966
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2967..3063
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3064..3633
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3260..3265
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="hexamer: AATAAA"
     polyA_site      3285
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="major polyA site"
     regulatory      3608..3613
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="hexamer: AATAAA"
     polyA_site      3633
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="major polyA site"
ORIGIN      
        1 ctcagcttct ccctcccgca gctccagtgc ccgagcttcg gctctcccag ttccccaacc
       61 caccccttcc cctccccgac aagccccgct agagcccagt ggagaccccc tcgatcctcg
      121 accccaccct aaacccccag aagctgtctt tctcctcccc agtcccctag cttggggtcc
      181 agacagccca gtggacccag gcgcctgagc aggagggtaa cccaggccac ccggcccctt
      241 cggccctctc ggccccaccc cctgcagccg gagccgcgcc ccctccacca cagagccgcg
      301 agaagaggac agaggagact gagcaaaggg gggtgggctc caggcgaccc ctagcccaat
      361 tctgcccctc catcccaagg ggcagagaaa ttgtctttct ttgctgactc ctacgaggaa
      421 aaaaaaaaaa aaaaaaaaaa caattaaagg gaaagataaa cggagacgga ggaaaggtgg
      481 cagccagatt acttagagag gcacagagga gagagatcgg ggtgagtcgc catggggact
      541 cccagggccc agcacccgcc gcctccccag ctgctgttcc taattctgct gagctgtccc
      601 tggatccagg gtctgcccct gaaggaggag gagatattgc cagagcctgg aagtgagacc
      661 cccacggtgg cctctgaggc cctggctgaa ctgcttcatg gggccctgct gaggaggggc
      721 ccagagatgg gctacctgcc agggcctccc cttgggcctg agggaggaga ggaggagacg
      781 acgaccacca tcatcaccac gacaactgtt accactacgg tgaccagccc agttctgtgt
      841 aataacaaca tctccgaggg cgaagggtat gtggagtctc cagatctggg gagccccgtc
      901 agccgcaccc tggggctcct ggactgcact tacagcatcc atgtctaccc tggctacggc
      961 attgagatcc aggtgcagac gctgaacctg tcacaggaag aggagctcct ggtgctggct
     1021 ggtgggggat ccccaggcct ggccccccga ctcctggcca actcatccat gcttggagaa
     1081 ggacaagtcc ttcggagccc aaccaaccgg ctgcttctgc acttccagag cccacgggtc
     1141 ccaaggggcg gtggcttcag gatccactat caggcctacc tcctgagctg tggcttccct
     1201 ccccggccgg cccatgggga cgtgagtgtg acggacctgc accctggggg cactgccacc
     1261 tttcactgtg attcgggcta ccagctgcag ggagaggaga ccctcatctg cctcaatggc
     1321 acccggccat cctggaacgg tgaaaccccc agctgcatgg catcctgtgg tggcaccatc
     1381 cacaatgcca ccctgggccg catcgtgtcc ccagagcctg ggggagccgt agggcccaac
     1441 ctcacctgcc gttgggtcat tgaagcagct gaggggcgcc ggctgcacct gcactttgaa
     1501 agggtctcgc tggatgagga caatgaccgg ctgatggtgc gctcaggggg cagcccccta
     1561 tcccccgtga tctatgattc ggacatggac gatgtccccg agcggggtct catcagtgac
     1621 gcccagtccc tctacgtgga gctgctgtca gagacacctg ccaatcccct gctgttaagc
     1681 cttcgatttg aagcctttga ggaggatcgc tgcttcgccc ccttcctggc acatggaaat
     1741 gtcactacca cggaccctga gtatcgccca ggggcactgg caaccttctc gtgcctccca
     1801 ggatatgccc tggagccccc tgggcccccc aatgccatcg aatgtgtgga tcccacagaa
     1861 ccccactgga acgacacaga gccggcctgc aaagccatgt gtggagggga gctgtcggaa
     1921 ccagctggcg tggtcctctc tcccgactgg ccccagagct atagcccggg ccaagactgc
     1981 gtgtggggcg tgcacgtcca ggaagagaag cgcatcttgc tccaagttga gatattgaat
     2041 gtgcgggaag gggacatgct gacgctgttc gacggggacg gtcccagcgc ccgagtcttg
     2101 gcccagctgc ggggacctca gccgcgccgc cgccttctct cctctgggcc cgacctcaca
     2161 ctgcagtttc aggcaccgcc cgggccccca aatccaggcc tgggccaggg cttcgtattg
     2221 cacttcaaag aggtcccgag gaacgacacg tgccccgagc tgccacctcc ggagtggggc
     2281 tggagaacgg catcccacgg ggacctgatc cggggcacgg tgctcaccta ccagtgcgag
     2341 cctggctacg agctgctagg ctccgacatt ctcacttgcc agtgggacct gtcttggagc
     2401 gccgcgccgc ccgcctgcca aaagatcatg acttgtgctg accctggcga gattgccaac
     2461 gggcaccgca ccgcctcgga cgccggcttc cccgttggct cccacgtcca gtaccgctgc
     2521 ctgccagggt acagcctcga gggggcagcc atgctcacct gctacagccg ggacacaggc
     2581 acacccaagt ggagcgatag ggtccccaaa tgcgccttga agtacgagcc gtgcctgaac
     2641 ccgggggttc ccgagaatgg ctaccagacg ctgtacaagc accactacca ggcgggcgag
     2701 tctctgcgct tcttctgcta tgagggcttt gagcttatcg gcgaggtcac catcacctgt
     2761 gtgcccggcc acccctccca gtggaccagc cagcccccac tctgcaaagt tgcctatgag
     2821 gagctcctgg acaaccgaaa actggaagtg acccagacca cagatccatc acggcagctg
     2881 gaagggggga acctggccct ggccatcctg ctgcctctag gcttggtcat tgtcctcggc
     2941 agtggcgttt acatctacta caccaagctt cagggaaagt cccttttcgg cttctcgggc
     3001 tcccactcct acagccccat caccgtggag tcggacttca gcaacccgct gtatgaagct
     3061 ggggatacgc gggagtatga agtttccatc tgaaccccaa gactacagct gcaggaccca
     3121 ggacgcccct cccctcctca ttcgggcaga gggaaatacg ggacccggtc tctgcctcct
     3181 ggctgccctc ctccctggct gtgtaaatag tctccctatc ccacgagggg gctttgatgg
     3241 ccctggagat cctacagtaa ataaaccagc atcctgccgc ccaaagccgc ctcttctcag
     3301 ttgccaaacg aggggcctgc cccccgccct accggctttt ggattctggg aggggaactc
     3361 tgcctccctg caaatcttgc agcccctcct gcccagggca cccctcaagg actgcccccg
     3421 atagctctac tgttcccttg gccacgaagg tgcccccctc ccagatgccc tggccctagg
     3481 cctgactccg gccaggaggg tcagaagaag gacaaagggg agagctggga caaggccttg
     3541 cccccttcct gccatctccc caacccacag tctctccacc tttgcttctg aattcttgtt
     3601 tttgagcaat aaacagaaaa tcgccacttg taa
//
