LOCUS       NM_001243332            3843 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens seizure related 6 homolog like 2 (SEZ6L2), transcript
            variant 5, mRNA.
ACCESSION   NM_001243332
VERSION     NM_001243332.2
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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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 3843)
  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, AK299103.1, DA188718.1 and BC000567.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 14, 2020 this sequence version replaced NM_001243332.1.
            
            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 (5) represents the longest
            transcript and encodes the longest 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 :: AK299103.1, SRR11853563.12409.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000617533.5/ ENSP00000481917.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-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
            442-751             AK299103.1         153-462
            752-835             DA188718.1         465-548
            836-3323            AK299103.1         547-3034
            3324-3843           BC000567.2         2496-3015
FEATURES             Location/Qualifiers
     source          1..3843
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="16"
                     /map="16p11.2"
     gene            1..3843
                     /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..3303
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="isoform 5 precursor is encoded by transcript
                     variant 5; type I transmembrane receptor (seizure-related
                     protein); seizure related 6-like protein 2"
                     /codon_start=1
                     /product="seizure 6-like protein 2 isoform 5 precursor"
                     /protein_id="NP_001230261.1"
                     /db_xref="CCDS:CCDS73865.1"
                     /db_xref="GeneID:26470"
                     /db_xref="HGNC:HGNC:30844"
                     /db_xref="MIM:616667"
                     /translation="MGTPRAQHPPPPQLLFLILLSCPWIQGLPLKEEEILPEPGSETP
                     TVASEALAELLHGALLRRGPEMGYLPGSDRDPTLATPPAGQTLAVPSLPRATEPGTGP
                     LTTAVTPNGVRGAGPTAPELLTPPPGTTAPPPPSPASPGPPLGPEGGEEETTTTIITT
                     TTVTTTVTSPVLCNNNISEGEGYVESPDLGSPVSRTLGLLDCTYSIHVYPGYGIEIQV
                     QTLNLSQEEELLVLAGGGSPGLAPRLLANSSMLGEGQVLRSPTNRLLLHFQSPRVPRG
                     GGFRIHYQAYLLSCGFPPRPAHGDVSVTDLHPGGTATFHCDSGYQLQGEETLICLNGT
                     RPSWNGETPSCMASCGGTIHNATLGRIVSPEPGGAVGPNLTCRWVIEAAEGRRLHLHF
                     ERVSLDEDNDRLMVRSGGSPLSPVIYDSDMDDVPERGLISDAQSLYVELLSETPANPL
                     LLSLRFEAFEEDRCFAPFLAHGNVTTTDPEYRPGALATFSCLPGYALEPPGPPNAIEC
                     VDPTEPHWNDTEPACKAMCGGELSEPAGVVLSPDWPQSYSPGQDCVWGVHVQEEKRIL
                     LQVEILNVREGDMLTLFDGDGPSARVLAQLRGPQPRRRLLSSGPDLTLQFQAPPGPPN
                     PGLGQGFVLHFKEVPRNDTCPELPPPEWGWRTASHGDLIRGTVLTYQCEPGYELLGSD
                     ILTCQWDLSWSAAPPACQKIMTCADPGEIANGHRTASDAGFPVGSHVQYRCLPGYSLE
                     GAAMLTCYSRDTGTPKWSDRVPKCALKYEPCLNPGVPENGYQTLYKHHYQAGESLRFF
                     CYEGFELIGEVTITCVPGHPSQWTSQPPLCKVAYEELLDNRKLEVTQTTDPSRQLEGG
                     NLALAILLPLGLVIVLGSGVYIYYTKLQGKSLFGFSGSHSYSPITVESDFSNPLYEAG
                     DTREYEVSI"
     exon            611..742
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            743..1042
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1043..1182
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1183..1384
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1385..1570
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1571..1739
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1740..1903
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            1904..2104
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2105..2243
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2244..2440
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2441..2635
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2636..2827
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            2828..3019
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3020..3058
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3059..3176
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3177..3273
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     exon            3274..3843
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3470..3475
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="hexamer: AATAAA"
     polyA_site      3495
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="major polyA site"
     regulatory      3818..3823
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6L2"
                     /gene_synonym="BSRPA; PSK-1"
                     /note="hexamer: AATAAA"
     polyA_site      3843
                     /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 aggatctgat cgggacccca cgctagccac ccctccggcc
      781 ggccagactc tcgcagtgcc ctccctgcca cgggccactg agccggggac agggcctctg
      841 acaacagccg tcacccctaa cggggtcagg ggggcaggcc ccactgcgcc agaactgctg
      901 accccgcccc caggaaccac agccccaccc ccacccagcc ctgcctcccc agggcctccc
      961 cttgggcctg agggaggaga ggaggagacg acgaccacca tcatcaccac gacaactgtt
     1021 accactacgg tgaccagccc agttctgtgt aataacaaca tctccgaggg cgaagggtat
     1081 gtggagtctc cagatctggg gagccccgtc agccgcaccc tggggctcct ggactgcact
     1141 tacagcatcc atgtctaccc tggctacggc attgagatcc aggtgcagac gctgaacctg
     1201 tcacaggaag aggagctcct ggtgctggct ggtgggggat ccccaggcct ggccccccga
     1261 ctcctggcca actcatccat gcttggagaa ggacaagtcc ttcggagccc aaccaaccgg
     1321 ctgcttctgc acttccagag cccacgggtc ccaaggggcg gtggcttcag gatccactat
     1381 caggcctacc tcctgagctg tggcttccct ccccggccgg cccatgggga cgtgagtgtg
     1441 acggacctgc accctggggg cactgccacc tttcactgtg attcgggcta ccagctgcag
     1501 ggagaggaga ccctcatctg cctcaatggc acccggccat cctggaacgg tgaaaccccc
     1561 agctgcatgg catcctgtgg tggcaccatc cacaatgcca ccctgggccg catcgtgtcc
     1621 ccagagcctg ggggagccgt agggcccaac ctcacctgcc gttgggtcat tgaagcagct
     1681 gaggggcgcc ggctgcacct gcactttgaa agggtctcgc tggatgagga caatgaccgg
     1741 ctgatggtgc gctcaggggg cagcccccta tcccccgtga tctatgattc ggacatggac
     1801 gatgtccccg agcggggtct catcagtgac gcccagtccc tctacgtgga gctgctgtca
     1861 gagacacctg ccaatcccct gctgttaagc cttcgatttg aagcctttga ggaggatcgc
     1921 tgcttcgccc ccttcctggc acatggaaat gtcactacca cggaccctga gtatcgccca
     1981 ggggcactgg caaccttctc gtgcctccca ggatatgccc tggagccccc tgggcccccc
     2041 aatgccatcg aatgtgtgga tcccacagaa ccccactgga acgacacaga gccggcctgc
     2101 aaagccatgt gtggagggga gctgtcggaa ccagctggcg tggtcctctc tcccgactgg
     2161 ccccagagct atagcccggg ccaagactgc gtgtggggcg tgcacgtcca ggaagagaag
     2221 cgcatcttgc tccaagttga gatattgaat gtgcgggaag gggacatgct gacgctgttc
     2281 gacggggacg gtcccagcgc ccgagtcttg gcccagctgc ggggacctca gccgcgccgc
     2341 cgccttctct cctctgggcc cgacctcaca ctgcagtttc aggcaccgcc cgggccccca
     2401 aatccaggcc tgggccaggg cttcgtattg cacttcaaag aggtcccgag gaacgacacg
     2461 tgccccgagc tgccacctcc ggagtggggc tggagaacgg catcccacgg ggacctgatc
     2521 cggggcacgg tgctcaccta ccagtgcgag cctggctacg agctgctagg ctccgacatt
     2581 ctcacttgcc agtgggacct gtcttggagc gccgcgccgc ccgcctgcca aaagatcatg
     2641 acttgtgctg accctggcga gattgccaac gggcaccgca ccgcctcgga cgccggcttc
     2701 cccgttggct cccacgtcca gtaccgctgc ctgccagggt acagcctcga gggggcagcc
     2761 atgctcacct gctacagccg ggacacaggc acacccaagt ggagcgatag ggtccccaaa
     2821 tgcgccttga agtacgagcc gtgcctgaac ccgggggttc ccgagaatgg ctaccagacg
     2881 ctgtacaagc accactacca ggcgggcgag tctctgcgct tcttctgcta tgagggcttt
     2941 gagcttatcg gcgaggtcac catcacctgt gtgcccggcc acccctccca gtggaccagc
     3001 cagcccccac tctgcaaagt tgcctatgag gagctcctgg acaaccgaaa actggaagtg
     3061 acccagacca cagatccatc acggcagctg gaagggggga acctggccct ggccatcctg
     3121 ctgcctctag gcttggtcat tgtcctcggc agtggcgttt acatctacta caccaagctt
     3181 cagggaaagt cccttttcgg cttctcgggc tcccactcct acagccccat caccgtggag
     3241 tcggacttca gcaacccgct gtatgaagct ggggatacgc gggagtatga agtttccatc
     3301 tgaaccccaa gactacagct gcaggaccca ggacgcccct cccctcctca ttcgggcaga
     3361 gggaaatacg ggacccggtc tctgcctcct ggctgccctc ctccctggct gtgtaaatag
     3421 tctccctatc ccacgagggg gctttgatgg ccctggagat cctacagtaa ataaaccagc
     3481 atcctgccgc ccaaagccgc ctcttctcag ttgccaaacg aggggcctgc cccccgccct
     3541 accggctttt ggattctggg aggggaactc tgcctccctg caaatcttgc agcccctcct
     3601 gcccagggca cccctcaagg actgcccccg atagctctac tgttcccttg gccacgaagg
     3661 tgcccccctc ccagatgccc tggccctagg cctgactccg gccaggaggg tcagaagaag
     3721 gacaaagggg agagctggga caaggccttg cccccttcct gccatctccc caacccacag
     3781 tctctccacc tttgcttctg aattcttgtt tttgagcaat aaacagaaaa tcgccacttg
     3841 taa
//
