LOCUS       NM_018684               2724 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens zinc finger C4H2-type containing (ZC4H2), transcript
            variant 1, mRNA.
ACCESSION   NM_018684
VERSION     NM_018684.4
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 2724)
  AUTHORS   Wongkittichote,P., Choi,T.I., Kim,O.H., Riley,K., Koeberl,D.,
            Narayanan,V., Ramsey,K., Balak,C., Schwartz,C.E.,
            Cueto-Gonzalez,A.M., Casadesus,F.M., Kim,C.H. and Shinawi,M.S.
  TITLE     Expanding allelic and phenotypic spectrum of ZC4H2-related
            disorder: A novel hypomorphic variant and high prevalence of
            tethered cord
  JOURNAL   Clin Genet 103 (2), 167-178 (2023)
   PUBMED   36250278
  REMARK    GeneRIF: Expanding allelic and phenotypic spectrum of ZC4H2-related
            disorder: A novel hypomorphic variant and high prevalence of
            tethered cord.
REFERENCE   2  (bases 1 to 2724)
  AUTHORS   Li,Y., Yang,C., Wang,H., Zhao,L., Kong,Q., Cang,Y., Zhao,S., Lv,L.,
            Li,Y., Mao,B. and Ma,P.
  TITLE     Sequential stabilization of RNF220 by RLIM and ZC4H2 during
            cerebellum development and Shh-group medulloblastoma progression
  JOURNAL   J Mol Cell Biol 14 (1) (2022)
   PUBMED   35040952
  REMARK    GeneRIF: Sequential stabilization of RNF220 by RLIM and ZC4H2
            during cerebellum development and Shh-group medulloblastoma
            progression.
            Erratum:[J Mol Cell Biol. 2022 May 25;14(2):mjac030. doi:
            10.1093/jmcb/mjac030.. PMID: 35639540]
REFERENCE   3  (bases 1 to 2724)
  AUTHORS   Godfrey,D., Torres,A., Heidary,G., Zahoor,H., Lee,A., Berry,G. and
            Engle,E.
  TITLE     A 7-year old female with arthrogryposis multiplex congenita, Duane
            retraction syndrome, and Marcus Gunn phenomenon due to a ZC4H2 gene
            mutation: a clinical presentation of the Wieacker-Wolff syndrome
  JOURNAL   Ophthalmic Genet 42 (5), 612-614 (2021)
   PUBMED   33949289
  REMARK    GeneRIF: A 7-year old female with arthrogryposis multiplex
            congenita, Duane retraction syndrome, and Marcus Gunn phenomenon
            due to a ZC4H2 gene mutation: a clinical presentation of the
            Wieacker-Wolff syndrome.
REFERENCE   4  (bases 1 to 2724)
  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   5  (bases 1 to 2724)
  AUTHORS   Lombard,Z., Park,C., Makova,K.D. and Ramsay,M.
  TITLE     A computational approach to candidate gene prioritization for
            X-linked mental retardation using annotation-based binary filtering
            and motif-based linear discriminatory analysis
  JOURNAL   Biol Direct 6, 30 (2011)
   PUBMED   21668950
  REMARK    Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2724)
  AUTHORS   Kroncke,K.D. and Klotz,L.O.
  TITLE     Zinc fingers as biologic redox switches?
  JOURNAL   Antioxid Redox Signal 11 (5), 1015-1027 (2009)
   PUBMED   19132878
  REMARK    Review article
REFERENCE   7  (bases 1 to 2724)
  AUTHORS   Gamsjaeger,R., Liew,C.K., Loughlin,F.E., Crossley,M. and
            Mackay,J.P.
  TITLE     Sticky fingers: zinc-fingers as protein-recognition motifs
  JOURNAL   Trends Biochem Sci 32 (2), 63-70 (2007)
   PUBMED   17210253
  REMARK    Review article
REFERENCE   8  (bases 1 to 2724)
  AUTHORS   Wang,Y., Han,K.J., Pang,X.W., Vaughan,H.A., Qu,W., Dong,X.Y.,
            Peng,J.R., Zhao,H.T., Rui,J.A., Leng,X.S., Cebon,J., Burgess,A.W.
            and Chen,W.F.
  TITLE     Large scale identification of human hepatocellular
            carcinoma-associated antigens by autoantibodies
  JOURNAL   J Immunol 169 (2), 1102-1109 (2002)
   PUBMED   12097419
REFERENCE   9  (bases 1 to 2724)
  AUTHORS   Mulley,J.C., Kerr,B., Stevenson,R. and Lubs,H.
  TITLE     Nomenclature guidelines for X-linked mental retardation
  JOURNAL   Am J Med Genet 43 (1-2), 383-391 (1992)
   PUBMED   1605216
  REMARK    Review article
REFERENCE   10 (bases 1 to 2724)
  AUTHORS   Miles,J.H. and Carpenter,N.J.
  TITLE     Unique X-linked mental retardation syndrome with fingertip arches
            and contractures linked to Xq21.31
  JOURNAL   Am J Med Genet 38 (2-3), 215-223 (1991)
   PUBMED   2018061
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC004411.1 and AK001547.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_018684.3.
            
            Summary: This gene encodes a member of the zinc finger
            domain-containing protein family. This family member has a
            C-terminal zinc finger domain that is characterized by four
            cysteine residues and two histidine residues, and it also includes
            a coiled-coil region. This protein has been detected as an
            autoantigen in hepatocellular carcinoma patients. This gene has
            been identified as a potential candidate for X-linked cognitive
            disability. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Aug 2011].
            
            Transcript Variant: This variant (1) encodes the longest 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 :: SRR14038195.1570751.1, BC004411.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed/partial sample support
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000350]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374839.8/ ENSP00000363972.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2146              BC004411.1         35-2180
            2147-2724           AK001547.1         1659-2236
FEATURES             Location/Qualifiers
     source          1..2724
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.2"
     gene            1..2724
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="zinc finger C4H2-type containing"
                     /db_xref="GeneID:55906"
                     /db_xref="HGNC:HGNC:24931"
                     /db_xref="MIM:300897"
     exon            1..126
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /inference="alignment:Splign:2.1.0"
     CDS             74..748
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="isoform 1 is encoded by transcript variant 1;
                     hepatocellular carcinoma-associated antigen 127; zinc
                     finger C4H2 domain-containing protein; zinc finger, C4H2
                     domain containing"
                     /codon_start=1
                     /product="zinc finger C4H2 domain-containing protein
                     isoform 1"
                     /protein_id="NP_061154.1"
                     /db_xref="CCDS:CCDS14380.1"
                     /db_xref="GeneID:55906"
                     /db_xref="HGNC:HGNC:24931"
                     /db_xref="MIM:300897"
                     /translation="MADEQEIMCKLESIKEIRNKTLQMEKIKARLKAEFEALESEERH
                     LKEYKQEMDLLLQEKMAHVEELRLIHADINVMENTIKQSENDLNKLLESTRRLHDEYK
                     PLKEHVDALRMTLGLQRLPDLCEEEEKLSLDYFEKQKAEWQTEPQEPPIPESLAAAAA
                     AAQQLQVARKQDTRQTATFRQQPPPMKACLSCHQQIHRNAPICPLCKAKSRSRNPKKP
                     KRKQDE"
     exon            127..298
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /inference="alignment:Splign:2.1.0"
     exon            299..471
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /inference="alignment:Splign:2.1.0"
     exon            472..634
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /inference="alignment:Splign:2.1.0"
     exon            635..2724
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2020..2025
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="hexamer: TATAAA"
     polyA_site      2050
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="major polyA site"
     regulatory      2126..2131
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="hexamer: AATACA"
     polyA_site      2150
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="major polyA site"
     regulatory      2685..2690
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
                     /note="hexamer: AATAAA"
     polyA_site      2724
                     /gene="ZC4H2"
                     /gene_synonym="HCA127; KIAA1166; MCS; MRXS4; WRWF; WRWFFR;
                     WWS"
ORIGIN      
        1 acattgtgtc tattgtatcc cttggctggt gtatttgtac atctctcggg acgtgaaatt
       61 gacagtgaaa agtatggcag atgagcaaga aatcatgtgc aaattggaaa gcattaaaga
      121 gatcaggaac aagaccctgc agatggagaa gatcaaggct cgtttgaagg ctgagtttga
      181 ggcacttgag tcagaggaaa ggcacctgaa ggaatacaag caggagatgg accttctgct
      241 acaggagaag atggcccatg tggaggaact ccgactgatc cacgctgaca tcaatgtgat
      301 ggaaaacact atcaaacaat ctgagaatga cctaaacaag ctgctagagt ctacaaggag
      361 gctgcatgat gagtataagc cactgaaaga acatgtggat gccctgcgca tgactctggg
      421 cctgcagagg ctccctgact tgtgtgaaga agaggagaag ctttccttgg attactttga
      481 gaagcagaaa gcagaatggc agacagaacc tcaggagccc cccatccctg agtccctggc
      541 cgctgcagcc gctgccgccc aacagctcca agtggctagg aagcaggata ctcggcagac
      601 ggccaccttc aggcagcagc ccccacctat gaaggcctgc ttgtcatgtc accagcaaat
      661 tcaccggaat gcacctatat gccctctttg caaggccaag agtcggtccc ggaaccccaa
      721 aaagccgaaa cggaagcagg atgaataaag aaagggagag cacatgaagc tttgctaatt
      781 ataacccctc accttgacca gagtcattga tgtcctgatg tgaaacaacc cttgcccaac
      841 cccacgaagt ctcctattta atgtgatgga agcacaaccc ctctctcact ttgctcctat
      901 ttctttctgc tcttgggatt tctggtttag gaagagatgt ggttcaggtg ctaaacagtg
      961 tgtctgatga tcccttctct cccactcaca tttcaacccc tgcccttgtt tggagctaag
     1021 ggaagggcaa aaggctcaga tatgattctc tatctcttgt gcctgaggcc tggagcctaa
     1081 ggagctgtag ggtctgaggg gcaggggagg cccatatctt gtttcaggta aaggacccag
     1141 tatttcccct ccttgtactt ttgccttagg ttctcaaggg acaatagtct tcatgttgga
     1201 ttctccaaca ggctgggtgc atgtatcccc ctactcctac cctcatctca tccttaaggc
     1261 ccagaggtag cttggacaag ccctcctttt cataatcatt tgggaggcat ggctgtaatt
     1321 ctttagcttt ctccacttct gtctcccaca tatactaaaa ttcttaggta ctaggctgtg
     1381 tgtcttggga tcttaagatc aatgaacctt tccccaatat ctagtctttg caaattctag
     1441 tagaagattt ccacagtgaa atcagtgagc cagaccaact ctacatctcc tgcctaacct
     1501 actgcctaag tcattagggc tgagggctcg gctgtagggg cttccttagg ctgagagtgc
     1561 ccccaggctg acatctgtgt tggcttttgt tcagaaccat tactctggca catgctcaat
     1621 ggtatattgc agggaggaga ggagtagatt tagatttgag taaatgccaa tcactttaca
     1681 catgaaggtg ggtgggactt tccttccatt catcccttgc tctcttggat ctgaactctt
     1741 ctggagcctc agctcaggat agctgctggc cactcctgtc ctgtggattg tgcaggtggc
     1801 ctttcctccc aaaagaaaag gcatcaggct ccccaagccc cacagctctc ctttccacca
     1861 aagccaggtt tcctggtaag gtcactcgaa gataagggat ggggatgggg gctgactgac
     1921 aaaaaatttt agccccaggt ctcagtacct ggctggggag ggggatattt ttccttcctt
     1981 aagtagtttt acattgccac agtgtgtatg tgttcactat ataaaatgtt cctctgctct
     2041 ttgaaagtaa gagtgttgtg tctgtacaaa tccttttaac atgcattcat tggagtaaat
     2101 tctgagtatc tactgtgtat tggataatac aaaagatgta atgtcattta cctttctggg
     2161 tagctcttgt ttgctcttat tcattccacc ttacaaatga gaaagccagg caccaaggac
     2221 aataatttac ctaattatca caataatttc catttattta gcacctactc tgtgccaggt
     2281 acctatgcaa gttgcttaat ataaatgatt gtatttgact tccaaaatac cttacaagct
     2341 aagtattctt atcaccattt taaaaaaaaa gggatactga acctccaaaa acttaaaagc
     2401 tttttcagag ttaaacagct agtaagagga aattgcagga tttggagcca gctttgtcca
     2461 actccagagc tcattttttt ctacttcttc tccatgatca tttttaagaa aacctttctc
     2521 cctttcagaa tggcttgatg atgagagtgg ttgaaataac tttggaactg aaatcaagaa
     2581 ctgggtgtca aatgactgat tcagggatat aaaggccaag ggctctctaa ataatatcct
     2641 gtacactaat ctgtctctgt gcttgtcagg gaattcaaca gctaaataaa acctctctgt
     2701 gcctcagtgt cctcatctgg aaaa
//
