LOCUS       NM_024741               2229 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens zinc finger protein 408 (ZNF408), transcript variant
            1, mRNA.
ACCESSION   NM_024741
VERSION     NM_024741.3
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 2229)
  AUTHORS   Tao,X., He,L., Cen,C., Liu,Y., Li,Q., Gong,L., Zhou,W. and Li,C.
  TITLE     Genetic and clinical characteristics of ZNF408-related familial
            exudative vitreoretinopathy
  JOURNAL   J Int Med Res 51 (9), 3000605231194518 (2023)
   PUBMED   37684015
  REMARK    GeneRIF: Genetic and clinical characteristics of ZNF408-related
            familial exudative vitreoretinopathy.
REFERENCE   2  (bases 1 to 2229)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 2229)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2229)
  AUTHORS   Li,Y., Peng,J., Li,J., Zhang,Q., Li,J., Zhang,X., Fei,P., She,K.
            and Zhao,P.
  TITLE     The characteristics of digenic familial exudative vitreoretinopathy
  JOURNAL   Graefes Arch Clin Exp Ophthalmol 256 (11), 2149-2156 (2018)
   PUBMED   30097784
  REMARK    GeneRIF: This is the first study to report a group of patients with
            digenic familial exudative vitreoretinopathy (FEVR). In most
            affected eyes, the stage was more severe than stage 3. We speculate
            that the phenotype of FEVR is more severe in patients with digenic
            rather than monogenic variants of FEVR-related genes.
REFERENCE   5  (bases 1 to 2229)
  AUTHORS   Karjosukarso,D.W., van Gestel,S.H.C., Qu,J., Kouwenhoven,E.N.,
            Duijkers,L., Garanto,A., Zhou,H. and Collin,R.W.J.
  TITLE     An FEVR-associated mutation in ZNF408 alters the expression of
            genes involved in the development of vasculature
  JOURNAL   Hum Mol Genet 27 (20), 3519-3527 (2018)
   PUBMED   29982478
  REMARK    GeneRIF: p.H455Y ZNF408 has reduced DNA-binding ability, as
            compared to the wild-type protein. The fact that the p.H455Y
            mutation disrupts the expression of genes important for the
            development of vasculature sheds further light on the molecular
            mechanisms underlying ZNF408-associated familial exudative
            vitreoretinopathy.
REFERENCE   6  (bases 1 to 2229)
  AUTHORS   Estrada,K., Styrkarsdottir,U., Evangelou,E., Hsu,Y.H., Duncan,E.L.,
            Ntzani,E.E., Oei,L., Albagha,O.M., Amin,N., Kemp,J.P., Koller,D.L.,
            Li,G., Liu,C.T., Minster,R.L., Moayyeri,A., Vandenput,L.,
            Willner,D., Xiao,S.M., Yerges-Armstrong,L.M., Zheng,H.F.,
            Alonso,N., Eriksson,J., Kammerer,C.M., Kaptoge,S.K., Leo,P.J.,
            Thorleifsson,G., Wilson,S.G., Wilson,J.F., Aalto,V., Alen,M.,
            Aragaki,A.K., Aspelund,T., Center,J.R., Dailiana,Z., Duggan,D.J.,
            Garcia,M., Garcia-Giralt,N., Giroux,S., Hallmans,G., Hocking,L.J.,
            Husted,L.B., Jameson,K.A., Khusainova,R., Kim,G.S., Kooperberg,C.,
            Koromila,T., Kruk,M., Laaksonen,M., Lacroix,A.Z., Lee,S.H.,
            Leung,P.C., Lewis,J.R., Masi,L., Mencej-Bedrac,S., Nguyen,T.V.,
            Nogues,X., Patel,M.S., Prezelj,J., Rose,L.M., Scollen,S.,
            Siggeirsdottir,K., Smith,A.V., Svensson,O., Trompet,S., Trummer,O.,
            van Schoor,N.M., Woo,J., Zhu,K., Balcells,S., Brandi,M.L.,
            Buckley,B.M., Cheng,S., Christiansen,C., Cooper,C., Dedoussis,G.,
            Ford,I., Frost,M., Goltzman,D., Gonzalez-Macias,J., Kahonen,M.,
            Karlsson,M., Khusnutdinova,E., Koh,J.M., Kollia,P., Langdahl,B.L.,
            Leslie,W.D., Lips,P., Ljunggren,O., Lorenc,R.S., Marc,J.,
            Mellstrom,D., Obermayer-Pietsch,B., Olmos,J.M.,
            Pettersson-Kymmer,U., Reid,D.M., Riancho,J.A., Ridker,P.M.,
            Rousseau,F., Slagboom,P.E., Tang,N.L., Urreizti,R., Van Hul,W.,
            Viikari,J., Zarrabeitia,M.T., Aulchenko,Y.S.,
            Castano-Betancourt,M., Grundberg,E., Herrera,L., Ingvarsson,T.,
            Johannsdottir,H., Kwan,T., Li,R., Luben,R., Medina-Gomez,C.,
            Palsson,S.T., Reppe,S., Rotter,J.I., Sigurdsson,G., van Meurs,J.B.,
            Verlaan,D., Williams,F.M., Wood,A.R., Zhou,Y., Gautvik,K.M.,
            Pastinen,T., Raychaudhuri,S., Cauley,J.A., Chasman,D.I.,
            Clark,G.R., Cummings,S.R., Danoy,P., Dennison,E.M., Eastell,R.,
            Eisman,J.A., Gudnason,V., Hofman,A., Jackson,R.D., Jones,G.,
            Jukema,J.W., Khaw,K.T., Lehtimaki,T., Liu,Y., Lorentzon,M.,
            McCloskey,E., Mitchell,B.D., Nandakumar,K., Nicholson,G.C.,
            Oostra,B.A., Peacock,M., Pols,H.A., Prince,R.L., Raitakari,O.,
            Reid,I.R., Robbins,J., Sambrook,P.N., Sham,P.C., Shuldiner,A.R.,
            Tylavsky,F.A., van Duijn,C.M., Wareham,N.J., Cupples,L.A.,
            Econs,M.J., Evans,D.M., Harris,T.B., Kung,A.W., Psaty,B.M.,
            Reeve,J., Spector,T.D., Streeten,E.A., Zillikens,M.C.,
            Thorsteinsdottir,U., Ohlsson,C., Karasik,D., Richards,J.B.,
            Brown,M.A., Stefansson,K., Uitterlinden,A.G., Ralston,S.H.,
            Ioannidis,J.P., Kiel,D.P. and Rivadeneira,F.
  TITLE     Genome-wide meta-analysis identifies 56 bone mineral density loci
            and reveals 14 loci associated with risk of fracture
  JOURNAL   Nat Genet 44 (5), 491-501 (2012)
   PUBMED   22504420
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 2229)
  AUTHORS   Ravasi,T., Suzuki,H., Cannistraci,C.V., Katayama,S., Bajic,V.B.,
            Tan,K., Akalin,A., Schmeier,S., Kanamori-Katayama,M., Bertin,N.,
            Carninci,P., Daub,C.O., Forrest,A.R., Gough,J., Grimmond,S.,
            Han,J.H., Hashimoto,T., Hide,W., Hofmann,O., Kamburov,A., Kaur,M.,
            Kawaji,H., Kubosaki,A., Lassmann,T., van Nimwegen,E.,
            MacPherson,C.R., Ogawa,C., Radovanovic,A., Schwartz,A.,
            Teasdale,R.D., Tegner,J., Lenhard,B., Teichmann,S.A., Arakawa,T.,
            Ninomiya,N., Murakami,K., Tagami,M., Fukuda,S., Imamura,K., Kai,C.,
            Ishihara,R., Kitazume,Y., Kawai,J., Hume,D.A., Ideker,T. and
            Hayashizaki,Y.
  TITLE     An atlas of combinatorial transcriptional regulation in mouse and
            man
  JOURNAL   Cell 140 (5), 744-752 (2010)
   PUBMED   20211142
  REMARK    Erratum:[Cell. 2010 Apr 16;141(2):369. Kamburov, Atanas [added];
            Kaur, Mandeep [added]; MacPherson, Cameron Ross [added];
            Radovanovic, Aleksandar [added]; Schwartz, Ariel [added]]
REFERENCE   8  (bases 1 to 2229)
  AUTHORS   Rivadeneira,F., Styrkarsdottir,U., Estrada,K., Halldorsson,B.V.,
            Hsu,Y.H., Richards,J.B., Zillikens,M.C., Kavvoura,F.K., Amin,N.,
            Aulchenko,Y.S., Cupples,L.A., Deloukas,P., Demissie,S.,
            Grundberg,E., Hofman,A., Kong,A., Karasik,D., van Meurs,J.B.,
            Oostra,B., Pastinen,T., Pols,H.A., Sigurdsson,G., Soranzo,N.,
            Thorleifsson,G., Thorsteinsdottir,U., Williams,F.M., Wilson,S.G.,
            Zhou,Y., Ralston,S.H., van Duijn,C.M., Spector,T., Kiel,D.P.,
            Stefansson,K., Ioannidis,J.P. and Uitterlinden,A.G.
  CONSRTM   Genetic Factors for Osteoporosis (GEFOS) Consortium
  TITLE     Twenty bone-mineral-density loci identified by large-scale
            meta-analysis of genome-wide association studies
  JOURNAL   Nat Genet 41 (11), 1199-1206 (2009)
   PUBMED   19801982
REFERENCE   9  (bases 1 to 2229)
  AUTHORS   Gao,J., Li,W.X., Feng,S.Q., Yuan,Y.S., Wan,D.F., Han,W. and Yu,Y.
  TITLE     A protein-protein interaction network of transcription factors
            acting during liver cell proliferation
  JOURNAL   Genomics 91 (4), 347-355 (2008)
   PUBMED   18255255
REFERENCE   10 (bases 1 to 2229)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK022889.1, BC015708.2 and
            AW246726.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_024741.2.
            
            Summary: The protein encoded by this gene contains ten tandem zinc
            fingers and an N-terminal SET domain, so it is likely a DNA binding
            protein that interacts with other proteins. In adults, the encoded
            protein is expressed most highly in retina. Consequently, defects
            in this gene have been associated with familial exudative
            vitreoretinopathy (FEVR) and retinitis pigmentosa (RP). [provided
            by RefSeq, Dec 2016].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC015708.2, SRR1660809.48678.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311764.3/ ENSP00000309606.2
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1729              AK022889.1         214-1942
            1730-2211           BC015708.2         1723-2204
            2212-2229           AW246726.1         15-32               c
FEATURES             Location/Qualifiers
     source          1..2229
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p11.2"
     gene            1..2229
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /note="zinc finger protein 408"
                     /db_xref="GeneID:79797"
                     /db_xref="HGNC:HGNC:20041"
                     /db_xref="MIM:616454"
     exon            1..69
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /inference="alignment:Splign:2.1.0"
     CDS             18..2180
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /note="isoform 1 is encoded by transcript variant 1; PR
                     domain zinc finger protein 17"
                     /codon_start=1
                     /product="zinc finger protein 408 isoform 1"
                     /protein_id="NP_079017.1"
                     /db_xref="CCDS:CCDS7923.1"
                     /db_xref="GeneID:79797"
                     /db_xref="HGNC:HGNC:20041"
                     /db_xref="MIM:616454"
                     /translation="MEEAEELLLEGKKALQLAREPRLGLDLGWNPSGEGCTQGLKDVP
                     PEPTRDILALKSLPRGLALGPSLAKEQRLGVWCVGDPLQPGLLWGPLEEESASKEKGE
                     GVKPRQEENLSLGPWGDVCACEQSSGWTSLVQRGRLESEGNVAPVRISERLHLQVYQL
                     VLPGSELLLWPQPSSEGPSLTQPGLDKEAAVAVVTEVESAVQQEVASPGEDAAEPCID
                     PGSQSPSGIQAENMVSPGLKFPTQDRISKDSQPLGPLLQDGDVDEECPAQAQMPPELQ
                     SNSATQQDPDGSGASFSSSARGTQPHGYLAKKLHSPSDQCPPRAKTPEPGAQQSGFPT
                     LSRSPPGPAGSSPKQGRRYRCGECGKAFLQLCHLKKHAFVHTGHKPFLCTECGKSYSS
                     EESFKAHMLGHRGVRPFPCPQCDKAYGTQRDLKEHQVVHSGARPFACDQCGKAFARRP
                     SLRLHRKTHQVPAAPAPCPCPVCGRPLANQGSLRNHMRLHTGEKPFLCPHCGRAFRQR
                     GNLRGHLRLHTGERPYRCPHCADAFPQLPELRRHLISHTGEAHLCPVCGKALRDPHTL
                     RAHERLHSGERPFPCPQCGRAYTLATKLRRHLKSHLEDKPYRCPTCGMGYTLPQSLRR
                     HQLSHRPEAPCSPPSVPSAASEPTVVLLQAEPQLLDTHREEEVSPARDVVEVTISESQ
                     EKCFVVPEEPDAAPSLVLIHKDMGLGAWAEVVEVEMGT"
     exon            70..347
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /inference="alignment:Splign:2.1.0"
     exon            348..409
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /inference="alignment:Splign:2.1.0"
     exon            410..669
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /inference="alignment:Splign:2.1.0"
     exon            670..2229
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2208..2213
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /note="hexamer: CATAAA"
     polyA_site      2229
                     /gene="ZNF408"
                     /gene_synonym="EVR6; RP72"
                     /note="major polyA site"
ORIGIN      
        1 aggctttctg acccggaatg gaggaggcgg aggagctgct cttggagggg aagaaggcgc
       61 tgcaactcgc ccgcgagccg cgcctgggcc tggacttagg atggaaccct tccggagaag
      121 gctgtacgca gggcctcaaa gacgtcccac ccgagccgac ccgagacatc ctcgctttaa
      181 agagccttcc ccggggcttg gcccttggcc cctcactcgc caaggaacag cgcttggggg
      241 tctggtgtgt cggggacccc ctgcagcccg gcctgctgtg ggggccgctg gaagaggagt
      301 ctgcctccaa ggagaagggc gagggagtaa agccacggca ggaggagaac ctgtcattag
      361 gcccatgggg agacgtgtgt gcctgtgagc agagttctgg ctggactagc ttggtacaac
      421 ggggcaggct ggagagtgag ggaaatgtgg ccccagtgcg gatcagcgag aggcttcatc
      481 tgcaagtgta ccagctggtg ctgccaggct ctgaactgct gctgtggccc cagccttcct
      541 ctgagggccc aagtctcacc cagcctgggc tggacaaaga ggcagctgta gcagtggtga
      601 cagaagtgga gtctgctgta cagcaggaag tggcctcccc tggggaggat gcagcagaac
      661 cttgcataga tcctggttcc cagtcaccct ctggcatcca ggcagagaat atggtgagcc
      721 ctggacttaa gttcccaacc caggaccgaa tttccaagga tagccagcca cttggcccat
      781 tgcttcagga tggcgacgtg gatgaggaat gcccggccca ggcacagatg ccacctgaac
      841 ttcagagcaa ttcggctacc cagcaggacc cagatggcag tggagccagt ttctcatctt
      901 ctgccagggg cacccagccg catggctacc tggccaagaa gttacacagc cccagtgatc
      961 agtgcccacc cagagcaaag accccagagc ctggagccca gcagtctggc ttccctacac
     1021 tctcgcggag ccctcctggc ccagcaggaa gctccccaaa gcaggggcga cggtaccggt
     1081 gtggagagtg tggcaaggca ttcctacagc tgtgccacct aaagaagcac gcatttgtgc
     1141 acacgggcca caagcccttt ctttgcactg agtgtggcaa gagctatagc tcagaggaga
     1201 gcttcaaagc ccatatgctg ggccaccgtg gggtgcggcc cttcccctgt ccacaatgcg
     1261 acaaggccta tggcacccag cgagacctca aagagcacca ggtggtacat tcaggtgccc
     1321 ggccctttgc ttgtgaccag tgtggcaagg cctttgcccg ccggccctcc ctgcggctgc
     1381 atcgcaagac ccaccaggtg ccagctgccc ctgccccttg cccatgccct gtgtgtgggc
     1441 ggcccctggc caaccagggc tccctgcgga accatatgag gctccataca ggagaaaagc
     1501 ctttcctgtg cccgcactgt ggccgggcgt ttcgtcagcg gggcaacctg cgtgggcatt
     1561 tgcggctcca caccggggag cgtccttacc gctgcccaca ctgtgccgat gccttccccc
     1621 agctgcctga actgcggcgc catctcatct cacacaccgg ggaggcccac ttgtgcccgg
     1681 tgtgtggcaa ggccctccga gacccacaca cgctccgagc tcacgagcgc ctgcactccg
     1741 gagagaggcc ctttccctgt ccccagtgtg gccgtgctta cacgctggcc accaagctgc
     1801 ggcgccacct caaatctcac ttggaggaca agccctaccg ctgccccacc tgtggcatgg
     1861 gctacaccct cccgcagagc ctcaggcggc atcagctcag tcaccggcct gaggcaccct
     1921 gcagcccacc ctctgtgcct tctgctgctt ctgagcccac tgtggtgctc ctgcaggctg
     1981 agccacaact gctggacaca cacagagagg aggaagtctc ccccgccagg gatgttgttg
     2041 aggtcaccat ttcagaaagc caggagaagt gctttgtggt gccagaggag ccagatgccg
     2101 cccccagcct ggtgctaatc cataaggaca tgggcctcgg cgcctgggca gaggtggtgg
     2161 aggtggagat gggcacctga cagctttgcc ttttgctgac acagctccat aaagactcgt
     2221 gctttctca
//
