LOCUS       NM_013249               4892 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens zinc finger protein 214 (ZNF214), transcript variant
            2, mRNA.
ACCESSION   NM_013249 XM_495864
VERSION     NM_013249.4
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 4892)
  AUTHORS   Lovering,R.C., Gaudet,P., Acencio,M.L., Ignatchenko,A., Jolma,A.,
            Fornes,O., Kuiper,M., Kulakovskiy,I.V., Laegreid,A., Martin,M.J.
            and Logie,C.
  TITLE     A GO catalogue of human DNA-binding transcription factors
  JOURNAL   Biochim Biophys Acta Gene Regul Mech 1864 (11-12), 194765 (2021)
   PUBMED   34673265
REFERENCE   2  (bases 1 to 4892)
  AUTHORS   Sofos,E., Pescosolido,M.F., Quintos,J.B., Abuelo,D., Gunn,S.,
            Hovanes,K., Morrow,E.M. and Shur,N.
  TITLE     A novel familial 11p15.4 microduplication associated with
            intellectual disability, dysmorphic features, and obesity with
            involvement of the ZNF214 gene
  JOURNAL   Am J Med Genet A 158A (1), 50-58 (2012)
   PUBMED   22052655
REFERENCE   3  (bases 1 to 4892)
  AUTHORS   Nord,A.S., Roeb,W., Dickel,D.E., Walsh,T., Kusenda,M.,
            O'Connor,K.L., Malhotra,D., McCarthy,S.E., Stray,S.M., Taylor,S.M.,
            Sebat,J., King,B., King,M.C. and McClellan,J.M.
  CONSRTM   STAART Psychopharmacology Network
  TITLE     Reduced transcript expression of genes affected by inherited and de
            novo CNVs in autism
  JOURNAL   Eur J Hum Genet 19 (6), 727-731 (2011)
   PUBMED   21448237
  REMARK    GeneRIF: For a number of genes affected by de novo copy number
            variants CNVs in autism (CNTNAP2, ZNF214, ARID1B, Proline
            Dehydrogenase), reduced transcript expression may be a mechanism of
            pathogenesis during neurodevelopment.
REFERENCE   4  (bases 1 to 4892)
  AUTHORS   Massart,F. and Saggese,G.
  TITLE     Morphogenetic targets and genetics of undescended testis
  JOURNAL   Sex Dev 4 (6), 326-335 (2010)
   PUBMED   20980787
  REMARK    Review article
REFERENCE   5  (bases 1 to 4892)
  AUTHORS   Gianotten,J., van der Veen,F., Alders,M., Leschot,N.J., Tanck,M.W.,
            Land,J.A., Kremer,J.A., Hoefsloot,L.H., Mannens,M.M., Lombardi,M.P.
            and Hoffer,M.J.
  TITLE     Chromosomal region 11p15 is associated with male factor
            subfertility
  JOURNAL   Mol Hum Reprod 9 (10), 587-592 (2003)
   PUBMED   12970396
REFERENCE   6  (bases 1 to 4892)
  AUTHORS   Alders,M., Ryan,A., Hodges,M., Bliek,J., Feinberg,A.P.,
            Privitera,O., Westerveld,A., Little,P.F. and Mannens,M.
  TITLE     Disruption of a novel imprinted zinc-finger gene, ZNF215, in
            Beckwith-Wiedemann syndrome
  JOURNAL   Am J Hum Genet 66 (5), 1473-1484 (2000)
   PUBMED   10762538
REFERENCE   7  (bases 1 to 4892)
  AUTHORS   Redeker,E., Hoovers,J.M., Alders,M., van Moorsel,C.J., Ivens,A.C.,
            Gregory,S., Kalikin,L., Bliek,J., de Galan,L., van den Bogaard,R.
            et al.
  TITLE     An integrated physical map of 210 markers assigned to the short arm
            of human chromosome 11
  JOURNAL   Genomics 21 (3), 538-550 (1994)
   PUBMED   7959730
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB262997.1, AF056617.1,
            AC100875.3, AA678604.1 and CA313222.1.
            
            On Nov 22, 2018 this sequence version replaced NM_013249.3.
            
            Summary: This gene is expressed predominantly in the testis and
            encodes a zinc finger protein that contains an N-terminal
            kruppel-associated box A (KRABA) domain and twelve zinc finger
            domains. This gene is located within one of three regions on
            chromosome 11p15 associated with Beckwith-Wiedemann syndrome,
            called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2),
            and is thought to play a role in the etiology of this disease.
            [provided by RefSeq, Aug 2017].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803613.237865.1,
                                           SRR1803614.185476.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMN03267765 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000278314.5/ ENSP00000278314.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-36                DB262997.1         10-45
            37-1047             AF056617.1         1-1011
            1048-1048           AC100875.3         157282-157282
            1049-2287           AF056617.1         1013-2251
            2288-2387           AA678604.1         1-100               c
            2388-4891           AC100875.3         158622-161125
            4892-4892           CA313222.1         17-17               c
FEATURES             Location/Qualifiers
     source          1..4892
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11p15.4"
     gene            1..4892
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="zinc finger protein 214"
                     /db_xref="GeneID:7761"
                     /db_xref="HGNC:HGNC:13006"
                     /db_xref="MIM:605015"
     exon            1..274
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /inference="alignment:Splign:2.1.0"
     exon            275..421
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /inference="alignment:Splign:2.1.0"
     CDS             295..2115
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     BWSCR2-associated zinc finger protein 1"
                     /codon_start=1
                     /product="zinc finger protein 214 isoform 2"
                     /protein_id="NP_037381.2"
                     /db_xref="CCDS:CCDS31418.1"
                     /db_xref="GeneID:7761"
                     /db_xref="HGNC:HGNC:13006"
                     /db_xref="MIM:605015"
                     /translation="MAVTFEDVTIIFTWEEWKFLDSSQKRLYREVMWENYTNVMSVEN
                     WNESYKSQEEKFRYLEYENFSYWQGWWNAGAQMYENQNYGETVQGTDSKDLTQQDRSQ
                     CQEWLILSTQVPGYGNYELTFESKSLRNLKYKNFMPWQSLETKTTQDYGREIYMSGSH
                     GFQGGRYRLGISRKNLSMEKEQKLIVQHSYIPVEEALPQYVGVICQEDLLRDSMEEKY
                     CGCNKCKGIYYWNSRCVFHKRNQPGENLCQCSICKACFSQRSDLYRHPRNHIGKKLYG
                     CDEVDGNFHQSSGVHFHQRVHIGEVPYSCNACGKSFSQISSLHNHQRVHTEEKFYKIE
                     CDKDLSRNSLLHIHQRLHIGEKPFKCNQCGKSFNRSSVLHVHQRVHTGEKPYKCDECG
                     KGFSQSSNLRIHQLVHTGEKSYKCEDCGKGFTQRSNLQIHQRVHTGEKPYKCDDCGKD
                     FSHSSDLRIHQRVHTGEKPYTCPECGKGFSKSSKLHTHQRVHTGEKPYKCEECGKGFS
                     QRSHLLIHQRVHTGEKPYKCHDCGKGFSHSSNLHIHQRVHTGEKPYQCAKCGKGFSHS
                     SALRIHQRVHAGEKPYKCREYYKGFDHNSHLHNNHRRGNL"
     exon            422..4892
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2356..2361
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="hexamer: ATTAAA"
     polyA_site      2383
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="major polyA site"
     regulatory      2639..2644
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="hexamer: AATAAA"
     polyA_site      2662
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
     regulatory      4533..4538
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="hexamer: AATAAA"
     polyA_site      4562
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
     regulatory      4866..4871
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
                     /note="hexamer: AATAAA"
     polyA_site      4892
                     /gene="ZNF214"
                     /gene_synonym="BAZ-1; BAZ1"
ORIGIN      
        1 gacttccgtt tcggtccagc cgggctgcgg ccattgtttg tgtggactga gtgttttggc
       61 catcccggtc cactctcaca ggctccgtta agtgacatga actctcagga ggactgagcc
      121 agaagcggac agggcaagac gagctgtgct tgaaggaaga ggggcagaaa atcgagggtc
      181 agggactgag aagctactcc ggtttagaaa ccccagagac acccgtgtag atgggtacat
      241 cacggcttct ctcccacgtt aagacttaat aaagaaagcc tgatctttga ccagatggca
      301 gtaacatttg aagatgtgac tattattttt acatgggagg agtggaaatt cctggattct
      361 tctcaaaaaa gactctacag ggaggtcatg tgggagaact acacaaatgt catgtcagta
      421 gaaaactgga atgagagcta caaatcccaa gaagaaaaat tcagatactt agaatatgaa
      481 aatttttcct actggcaagg ctggtggaat gctggcgccc agatgtatga gaatcagaac
      541 tatggggaaa ctgttcaagg gacagattcc aaagacctca cacagcaaga tcgttcccag
      601 tgtcaggaat ggttaatact ctccacacaa gtaccagggt atgggaacta tgaactgact
      661 tttgaaagca aaagtctcag gaacttaaaa tataaaaatt ttatgccttg gcagtcctta
      721 gaaacaaaaa ccactcaaga ctatggtaga gaaatctaca tgagtggttc acatggtttt
      781 caagggggca gataccgtct tggcatatcc aggaaaaacc tctccatgga aaaagaacag
      841 aagctcatag ttcagcattc ttatatccca gtggaggaag cccttccaca gtatgttggg
      901 gtgatatgtc aagaagacct actgagagat tcaatggaag aaaagtactg tggatgtaat
      961 aaatgtaaag gaatttatta ttggaactca cggtgtgttt tccacaagag aaatcaacct
     1021 ggagaaaacc tctgtcaatg ctccatctgt aaagcatgct tctctcagag atcagacttg
     1081 tatagacatc caagaaacca cataggtaag aagctgtacg gatgtgatga agttgacggt
     1141 aactttcatc agagctccgg agttcacttt catcagagag ttcacatagg ggaggtacct
     1201 tatagctgta atgcatgtgg taagagcttc agccagatct ctagtcttca caatcatcaa
     1261 agagtccaca cagaagagaa attctataaa attgagtgtg ataaagacct cagtagaaat
     1321 tcattacttc acattcacca gagacttcac ataggagaga agccttttaa atgtaatcag
     1381 tgtggtaaga gttttaatcg gagttcagta cttcatgttc atcagagagt ccacacagga
     1441 gaaaaaccat ataagtgtga tgagtgtggt aagggtttca gccagagctc aaatcttcga
     1501 attcatcagt tagtacacac aggagagaag tcttataaat gtgaagactg tggtaaaggc
     1561 tttacccagc gctcaaatct tcaaattcat cagagagtgc atacaggaga gaaaccttat
     1621 aaatgtgatg actgtggaaa ggactttagt cacagctcag atcttcgcat tcatcagaga
     1681 gtccatacag gggagaaacc ctatacttgt cctgaatgtg ggaagggctt cagtaagagt
     1741 tcaaagcttc acactcatca aagagtacat actggagaga aaccctacaa atgtgaagag
     1801 tgtggcaagg gattcagtca gcgttcacat cttctcattc atcagagagt ccatacagga
     1861 gaaaagccct ataaatgtca tgattgtgga aagggtttta gtcacagttc taatcttcac
     1921 attcatcaga gggtccatac aggagagaag ccttatcaat gtgctaagtg tggtaaaggt
     1981 ttcagtcata gctcagctct tcgaattcat caaagagtcc atgcaggaga gaaaccttac
     2041 aaatgccgtg aatattataa gggatttgat cataattcac atcttcacaa taatcataga
     2101 agaggaaact tataaatatt gttcatttag ttaacagctt taatcaaagt ttacctaacc
     2161 tttaaaccct ataaatcctg ctgttaagga aatcttataa ataacacaag taatcccaag
     2221 caacatttat agtttcccct atctcccact aagaattatt tgcttcaaaa ggagatcttt
     2281 agaaaaaacc ctatatattt aaaattatag tgtatttttc tttacctact ataaatataa
     2341 tacagtcata aatatattaa acatttaagg agaaaactct tcattctatt tcattctagt
     2401 ctttttttct gtgcatttta atgtgcatga aattgtgtgt tcaattttgt attttcactg
     2461 tcttcaaaat atttacttaa attttggttt gaattgaaac tggttggcca actgttaaac
     2521 gacatctctt aactccccta aaaactccct aggaagtaac agaaaagatg gaaacacata
     2581 gaacttaaaa ctcagttttg gccggtagaa ttcaattgtt tatggacaaa agccacctaa
     2641 taaaagatag gaaagcattg tatgacattg tgtctgagac agtgtatctg agttgttatc
     2701 tctgtcaacc agaaaaccca gggaccatcc ttctgttgca ggggtgcttc actttgaggt
     2761 gactacagtg cactcatccc ttccctttcc ggttttccac gcttaataat aggttcagat
     2821 accaaacaac aagaagtaca gaattttctc taaggtgtga agggtatgga caaaagtgct
     2881 agaaatggaa gatactccat tggttcggaa ttagagatcc aagcagtaga attttattta
     2941 atctcagtag aacagagtgg taatagagaa atatctgcaa ggacagcatt gaactcagaa
     3001 ctctgtgcaa cgatgaaccc tgaagctaat tatgtaaaaa gagagtttgg ccattatctc
     3061 agaatagagt tagtcggaat acacagtctt aattattgat acacaaatat gctgaagtaa
     3121 taccaagaga aaaaaaagtg gacatgttta ggaaaattag agggaattgc aatactgaag
     3181 aaaagaatat catcctaaag acctggaaac ttattgccct gaaaattagc tgctgcaggc
     3241 ttcagaggaa atttccagaa atgttggtgt ccttagtggc ataacagaga atctgaactc
     3301 agtaaagata gagtagaaat atacaagtag agaagagtat ctaaagtgaa aagagaaata
     3361 gatacaacaa agaaggactt cagggagctc tgaaatactg tatcaaaata aatgcaataa
     3421 aaagtaacac tgaagaatat aaaataattg atagttaata gataaacttg atctgatctt
     3481 aaatgtatct gaaaaggata atgagatgga aactaagaaa gaacagatat gaatatcaga
     3541 ggatggaggt ccagtgtgag aattaaaggt gtctctaagg aaggtgaaag aacatttggc
     3601 atagaatcaa tgatcaaaga cattaagaaa ctttctctga gttaaaagta tatggtcact
     3661 aagttttagg caaaaccagt attaaagcaa ccttagaaac aggttagaaa gaagcaatta
     3721 aaagcatgca gaaagaaaaa ttctggttat ctgcaaaacc agaaagggag ggtggataca
     3781 gagctctgca acagtaactc agaaggcaat ggagcagcac gttcagaatt ttgagatttg
     3841 aaaagtttat tatcaccagt tttataacaa aagtgtcttt catatgtgca ggaaacaaat
     3901 atttttgata agcaagaaaa cagtgtagcg tatatgtgcc ttaaagagag tttgtgaatg
     3961 tggaaatcat ggtataaaag gactagtgat aagcactgaa atcaattaga tatgcagttg
     4021 tctggatagt ttccaaaact tcaaaaaatt aaatgtgcaa taaaaatata caaatgctga
     4081 gtgtaaagtg tacaaatgct gagtctgggt aggagagtaa ggttgtcagg acacccagtt
     4141 aagtttgaat ttcatataag caaagaataa ttgttttagt ataagggtgt cccaaatatt
     4201 gcatgggact tacactaaaa tttcatacat ttgaaattca aatttaactg gtcatttctg
     4261 tttttagttg ctacatccgg caactggaga gagaccataa gtgccacatt tctgatctta
     4321 aatagcaggg actcataata acattttctt tttgaatgac aatttaagaa aggccttttt
     4381 tttttttttt tacaaaccta aaattacaac ttaataaaac taaaaaaagt gcatatacct
     4441 ttcaaaatgg gagaagataa aagcaaaaat tattcagtct ctgtagcaat gactaccaaa
     4501 aaaatcccca agaagttggc ctaaaatatt aaaataaacg gatcaagatg attaaagcca
     4561 aatgtatcaa aacacgttca atgcttcatt ttaaaatgtt gaaaacactg ggttaaaaat
     4621 ttctaattat gtgctataac agatgaaaat gtgatattgc ttaaatgtga gaccaggtga
     4681 aggtttatta gacaaacata aaggagtacc tacaatatgt ttttaaaggt gaaaagtgca
     4741 ctaatttaaa ctcattaagt tgggcaaaaa tacaaaatca ttagttttct aaattcttgg
     4801 aatattcagg aaatgtaatt gtcaaaaaat ctggttttta atttacaaaa atgcagaatg
     4861 aaaataataa aaaacgggga aatataaaag ag
//
