LOCUS       NM_005797               2622 bp    mRNA    linear   PRI 24-APR-2024
DEFINITION  Homo sapiens myelin protein zero like 2 (MPZL2), transcript variant
            1, mRNA.
ACCESSION   NM_005797
VERSION     NM_005797.4
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 2622)
  AUTHORS   Lo,E., Blair,J., Yamamoto,N., Diaz-Miranda,M.A., Bedoukian,E.,
            Gray,C., Lawrence,A., Dedhia,K., Elden,L.M., Germiller,J.A.,
            Kazahaya,K., Sobol,S.E., Luo,M., Krantz,I.D. and Hartman,T.R.
  TITLE     Recurrent missense variant identified in two unrelated families
            with MPZL2-related hearing loss, expanding the variant spectrum
            associated with DFNB111
  JOURNAL   Am J Med Genet A 194 (5), e63530 (2024)
   PUBMED   38197511
  REMARK    GeneRIF: Recurrent missense variant identified in two unrelated
            families with MPZL2-related hearing loss, expanding the variant
            spectrum associated with DFNB111.
REFERENCE   2  (bases 1 to 2622)
  AUTHORS   Zhang,L., Yang,J.Y., Wang,Q.Q., Gao,X., Wang,G.J., Han,M.Y.,
            Kang,D.Y., Han,D.Y., Huang,S.S. and Yuan,Y.Y.
  TITLE     MPZL2-a common autosomal recessive deafness gene related to
            moderate sensorineural hearing loss in the Chinese population
  JOURNAL   BMC Med Genomics 17 (1), 32 (2024)
   PUBMED   38254107
  REMARK    GeneRIF: MPZL2-a common autosomal recessive deafness gene related
            to moderate sensorineural hearing loss in the Chinese population.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2622)
  AUTHORS   Li,W., Guo,L., Chen,B., Shu,Y. and Li,H.
  TITLE     MPZL2 variant analysis with whole exome sequencing in a cohort of
            Chinese hearing loss patients
  JOURNAL   Int J Pediatr Otorhinolaryngol 171, 111635 (2023)
   PUBMED   37390746
  REMARK    GeneRIF: MPZL2 variant analysis with whole exome sequencing in a
            cohort of Chinese hearing loss patients.
REFERENCE   4  (bases 1 to 2622)
  AUTHORS   Eshibona,N., Giwa,A., Rossouw,S.C., Gamieldien,J., Christoffels,A.
            and Bendou,H.
  TITLE     Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in
            pediatric acute myeloid leukemia patients with FLT3-ITD mutation
  JOURNAL   Leuk Lymphoma 63 (8), 1897-1906 (2022)
   PUBMED   35249471
  REMARK    GeneRIF: Upregulation of FHL1, SPNS3, and MPZL2 predicts poor
            prognosis in pediatric acute myeloid leukemia patients with
            FLT3-ITD mutation.
REFERENCE   5  (bases 1 to 2622)
  AUTHORS   Amalou,G., Bonnet,C., Riahi,Z., Bouzidi,A., Elrharchi,S.,
            Bousfiha,A., Charif,M., Kandil,M., Lenaers,G., Petit,C. and
            Barakat,A.
  TITLE     A homozygous MPZL2 deletion is associated with non syndromic
            hearing loss in a moroccan family
  JOURNAL   Int J Pediatr Otorhinolaryngol 140, 110481 (2021)
   PUBMED   33234333
  REMARK    GeneRIF: A homozygous MPZL2 deletion is associated with non
            syndromic hearing loss in a moroccan family.
REFERENCE   6  (bases 1 to 2622)
  AUTHORS   Ohtsu,N., Nakatani,Y., Yamashita,D., Ohue,S., Ohnishi,T. and
            Kondo,T.
  TITLE     Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating
            Cells by Activating the Noncanonical NF-kappaB Signaling Pathway
  JOURNAL   Cancer Res 76 (1), 171-181 (2016)
   PUBMED   26677976
  REMARK    GeneRIF: Findings highlight Eva1 as a novel regulator of GIC
            function and also provide new mechanistic insight into the role of
            noncanonical NF-kappaB activation in GIC.
REFERENCE   7  (bases 1 to 2622)
  AUTHORS   Ramani,S.R., Tom,I., Lewin-Koh,N., Wranik,B., Depalatis,L.,
            Zhang,J., Eaton,D. and Gonzalez,L.C.
  TITLE     A secreted protein microarray platform for extracellular protein
            interaction discovery
  JOURNAL   Anal Biochem 420 (2), 127-138 (2012)
   PUBMED   21982860
REFERENCE   8  (bases 1 to 2622)
  AUTHORS   Wojcik,E., Carrithers,L.M. and Carrithers,M.D.
  TITLE     Characterization of epithelial V-like antigen in human choroid
            plexus epithelial cells: potential role in CNS immune surveillance
  JOURNAL   Neurosci Lett 495 (2), 115-120 (2011)
   PUBMED   21440040
  REMARK    GeneRIF: EVA is expressed in human choroid plexus epithelial cells
            and CD4 T lymphocytes and regulates CD4+ T lymphocyte adhesion to
            human choroid plexus epithelial cells in vitro. These data suggest
            a novel mechanism to regulate CNS immune surveillance.
REFERENCE   9  (bases 1 to 2622)
  AUTHORS   Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J.,
            Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B.,
            Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E.,
            Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S.,
            Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C.,
            Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V.,
            Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K.,
            Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z.,
            Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   10 (bases 1 to 2622)
  AUTHORS   Guttinger,M., Sutti,F., Panigada,M., Porcellini,S., Merati,B.,
            Mariani,M., Teesalu,T., Consalez,G.G. and Grassi,F.
  TITLE     Epithelial V-like antigen (EVA), a novel member of the
            immunoglobulin superfamily, expressed in embryonic epithelia with a
            potential role as homotypic adhesion molecule in thymus
            histogenesis
  JOURNAL   J Cell Biol 141 (4), 1061-1071 (1998)
   PUBMED   9585423
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA163069.1, AF275945.1 and
            AW073724.1.
            
            On Nov 23, 2018 this sequence version replaced NM_005797.3.
            
            Summary: Thymus development depends on a complex series of
            interactions between thymocytes and the stromal component of the
            organ. Epithelial V-like antigen (EVA) is expressed in thymus
            epithelium and strongly downregulated by thymocyte developmental
            progression. This gene is expressed in the thymus and in several
            epithelial structures early in embryogenesis. It is highly
            homologous to the myelin protein zero and, in thymus-derived
            epithelial cell lines, is poorly soluble in nonionic detergents,
            strongly suggesting an association to the cytoskeleton. Its
            capacity to mediate cell adhesion through a homophilic interaction
            and its selective regulation by T cell maturation might imply the
            participation of EVA in the earliest phases of thymus
            organogenesis. The protein bears a characteristic V-type domain and
            two potential N-glycosylation sites in the extracellular domain; a
            putative serine phosphorylation site for casein kinase 2 is also
            present in the cytoplasmic tail. Two transcript variants encoding
            the same protein have been found for this gene. [provided by
            RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longer
            transcript.
            
            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 :: SRR1660803.142024.1,
                                           SRR1660805.227446.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278937.7/ ENSP00000278937.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-15                DA163069.1         240-254
            16-2578             AF275945.1         1-2563
            2579-2622           AW073724.1         11-54               c
FEATURES             Location/Qualifiers
     source          1..2622
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q23.3"
     gene            1..2622
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="myelin protein zero like 2"
                     /db_xref="GeneID:10205"
                     /db_xref="HGNC:HGNC:3496"
                     /db_xref="MIM:604873"
     exon            1..202
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     CDS             145..792
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="epithelial V-like antigen 1; myelin protein
                     zero-like protein 2"
                     /codon_start=1
                     /product="myelin protein zero-like protein 2 precursor"
                     /protein_id="NP_005788.1"
                     /db_xref="CCDS:CCDS8393.1"
                     /db_xref="GeneID:10205"
                     /db_xref="HGNC:HGNC:3496"
                     /db_xref="MIM:604873"
                     /translation="MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDAR
                     LKCTFSSFAPVGDALTVTWNFRPLDGGPEQFVFYYHIDPFQPMSGRFKDRVSWDGNPE
                     RYDASILLWKLQFDDNGTYTCQVKNPPDVDGVIGEIRLSVVHTVRFSEIHFLALAIGS
                     ACALMIIIVIVVVLFQHYRKKRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD"
     exon            203..369
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     exon            370..580
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     exon            581..728
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     exon            729..804
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     exon            805..2622
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1277..1282
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="hexamer: AGTAAA"
     polyA_site      1303
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="major polyA site"
     regulatory      2585..2590
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="hexamer: AATAAA"
     regulatory      2599..2604
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="hexamer: AATAAA"
     polyA_site      2617
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
                     /note="major polyA site"
     polyA_site      2622
                     /gene="MPZL2"
                     /gene_synonym="DFNB111; EVA; EVA1"
ORIGIN      
        1 gtcacaggca caggtgagga actcaactca aactcctctc tctgggaaaa cgcggtgctt
       61 gctcctcccg gagtggcctt ggcagggtgt tggagccctc ggtctgcccc gtccggtctc
      121 tggggccaag gctgggtttc cctcatgtat ggcaagagct ctactcgtgc ggtgcttctt
      181 ctccttggca tacagctcac agctctttgg cctatagcag ctgtggaaat ttatacctcc
      241 cgggtgctgg aggctgttaa tgggacagat gctcggttaa aatgcacttt ctccagcttt
      301 gcccctgtgg gtgatgctct aacagtgacc tggaattttc gtcctctaga cgggggacct
      361 gagcagtttg tattctacta ccacatagat cccttccaac ccatgagtgg gcggtttaag
      421 gaccgggtgt cttgggatgg gaatcctgag cggtacgatg cctccatcct tctctggaaa
      481 ctgcagttcg acgacaatgg gacatacacc tgccaggtga agaacccacc tgatgttgat
      541 ggggtgatag gggagatccg gctcagcgtc gtgcacactg tacgcttctc tgagatccac
      601 ttcctggctc tggccattgg ctctgcctgt gcactgatga tcataatagt aattgtagtg
      661 gtcctcttcc agcattaccg gaaaaagcga tgggccgaaa gagctcataa agtggtggag
      721 ataaaatcaa aagaagagga aaggctcaac caagagaaaa aggtctctgt ttatttagaa
      781 gacacagact aacaatttta gatggaagct gagatgattt ccaagaacaa gaaccctagt
      841 atttcttgaa gttaatggaa acttttcttt ggcttttcca gttgtgaccc gttttccaac
      901 cagttctgca gcatattaga ttctagacaa gcaacacccc tctggagcca gcacagtgct
      961 cctccatatc accagtcata cacagcctca ttattaaggt cttatttaat ttcagagtgt
     1021 aaattttttc aagtgctcat taggttttat aaacaagaag ctacattttt gcccttaaga
     1081 cactacttac agtgttatga cttgtataca catatattgg tatcaaaagg gataaaagcc
     1141 aatttgtctg ttacatttcc tttcacgtat ttcttttagc agcacttctg ctactaaagt
     1201 taatgtgttt actctctttc cttcccacat tctcaattaa aaggtgagct aagcctcctc
     1261 ggtgtttctg attaacagta aatcctaaat tcaaactgtt aaatgacatt tttattttta
     1321 tgtctctcct taactatgag acacatcttg ttttactgaa tttctttcaa tattccaggt
     1381 gatagatttt tgttgttttg ttaattaatc caagatttac aatagcacaa cgctaaatca
     1441 cacagtaact acaaaaggtt acatagatat gaaaagattg gcagaggcca ttgcaggatg
     1501 aatcacttgt cacttttctt ctgtgctggg aaaaataatc aacaatgtgg gtctttcatg
     1561 agcagtgacg gatagtttag cttactatgt ttccccccca attcaatgat ctataacaac
     1621 agagcaaagt ctatgctcat ttgcagactg gaatcattaa gtaatttaat aaaaaaattg
     1681 tgaaacagca tattacaagt ttgaaaattc agggctggtg aaaaaaatca actctaaatg
     1741 atgataattt tgtacagttt tatataaaac tctgagaact agaagaaatt attaactttt
     1801 tttctttttt aattctaatt cacttgttta ttttggggga ggaagacttt ggtatggagc
     1861 aaagaaatac caaaactact ttaaatggaa taaaaccaac tttattcttt ttttccccca
     1921 tactggtaga taaagcaaac tttataagtg ggctattgaa agaaaagtta caagcttaag
     1981 atacagaagc atttgttcaa aggatagaaa gcatctaaaa gtttaggctc aagatcaatc
     2041 tttacagatt gatattttca gtttttaatc gactggactg cagatgtttt ttcttttaac
     2101 aaactggaat tttcaaacag attatctgta tttaaatgta tagaccttga tatttttcca
     2161 atactatttt ttaaaaaatt gtatgattta catatgaacc tcagttctga aattcattac
     2221 atatctgtct cattctgcct tttatactgt ctaaaaaagc aaagttttaa agtgcaattt
     2281 taaaactgta aattacatct gaaggctata tatcctttaa tcacatttta tattttttct
     2341 tcacaattct aacctttgaa aatattataa ctggatattt cttcaaacag atgtcctgga
     2401 tgatggtcca taagaataat gaagaagtag ttaaaaatgt atggacagtt tttccggcaa
     2461 aatttgtagc ttatgtcttg gctaaatagt caaggggtaa tatgggcctg ttgtttagtg
     2521 tctccttcct aaagagcact tttgtattgt aatttatttt ttattatgct ttaaacacta
     2581 tgtaaataaa cctttagtaa taaagaatta tcagttatat aa
//
