LOCUS       NM_020184               4783 bp    mRNA    linear   PRI 09-FEB-2025
DEFINITION  Homo sapiens cyclin and CBS domain divalent metal cation transport
            mediator 4 (CNNM4), mRNA.
ACCESSION   NM_020184
VERSION     NM_020184.4
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 4783)
  AUTHORS   Shahsavan,A., Lee,E.L., Illes,K., Kozlov,G. and Gehring,K.
  TITLE     Dimerization of the CNNM extracellular domain
  JOURNAL   Protein Sci 33 (2), e4860 (2024)
   PUBMED   38149326
  REMARK    GeneRIF: Dimerization of the CNNM extracellular domain.
REFERENCE   2  (bases 1 to 4783)
  AUTHORS   Rattanapornsompong,K., Gavila,P., Tungsanga,S., Chanakul,A.,
            Apivatthakakul,A., Tengsujaritkul,M., Tongsong,T., Theerapanon,T.,
            Porntaveetus,T. and Shotelersuk,V.
  TITLE     Novel CNNM4 variant and clinical features of Jalili syndrome
  JOURNAL   Clin Genet 103 (2), 256-257 (2023)
   PUBMED   36354001
  REMARK    GeneRIF: Novel CNNM4 variant and clinical features of Jalili
            syndrome.
REFERENCE   3  (bases 1 to 4783)
  AUTHORS   Bai,Z., Feng,J., Franken,G.A.C., Al'Saadi,N., Cai,N., Yu,A.S.,
            Lou,L., Komiya,Y., Hoenderop,J.G.J., de Baaij,J.H.F., Yue,L. and
            Runnels,L.W.
  TITLE     CNNM proteins selectively bind to the TRPM7 channel to stimulate
            divalent cation entry into cells
  JOURNAL   PLoS Biol 19 (12), e3001496 (2021)
   PUBMED   34928937
  REMARK    GeneRIF: CNNM proteins selectively bind to the TRPM7 channel to
            stimulate divalent cation entry into cells.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4783)
  AUTHORS   Prasov,L., Ullah,E., Turriff,A.E., Warner,B.M., Conley,J.,
            Mark,P.R., Hufnagel,R.B. and Huryn,L.A.
  TITLE     Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4
            variants and uniparental isodisomy in a north American patient
            cohort
  JOURNAL   Am J Med Genet A 182 (3), 493-497 (2020)
   PUBMED   32022389
  REMARK    GeneRIF: Expanding the genotypic spectrum of Jalili syndrome: Novel
            CNNM4 variants and uniparental isodisomy in a north American
            patient cohort.
REFERENCE   5  (bases 1 to 4783)
  AUTHORS   Parveen,A., Mirza,M.U., Vanmeert,M., Akhtar,J., Bashir,H., Khan,S.,
            Shehzad,S., Froeyen,M., Ahmed,W., Ansar,M. and Wasif,N.
  TITLE     A novel pathogenic missense variant in CNNM4 underlying Jalili
            syndrome: Insights from molecular dynamics simulations
  JOURNAL   Mol Genet Genomic Med 7 (9), e902 (2019)
   PUBMED   31347285
  REMARK    GeneRIF: The novel identified variant in CNNM4 is the first report
            from the Pakistani population. Sequence analysis of CNNM4 revealed
            a novel missense variant (c.1220G>T, p.Arg407Leu) in exon-1
            encoding cystathionine-beta-synthase (CBS) domain.
REFERENCE   6  (bases 1 to 4783)
  AUTHORS   Guo,D., Ling,J., Wang,M.H., She,J.X., Gu,J. and Wang,C.Y.
  TITLE     Physical interaction and functional coupling between ACDP4 and the
            intracellular ion chaperone COX11, an implication of the role of
            ACDP4 in essential metal ion transport and homeostasis
  JOURNAL   Mol Pain 1, 15 (2005)
   PUBMED   15840172
  REMARK    Publication Status: Online-Only
REFERENCE   7  (bases 1 to 4783)
  AUTHORS   Michaelides,M., Bloch-Zupan,A., Holder,G.E., Hunt,D.M. and
            Moore,A.T.
  TITLE     An autosomal recessive cone-rod dystrophy associated with
            amelogenesis imperfecta
  JOURNAL   J Med Genet 41 (6), 468-473 (2004)
   PUBMED   15173235
REFERENCE   8  (bases 1 to 4783)
  AUTHORS   Wang,C.Y., Shi,J.D., Yang,P., Kumar,P.G., Li,Q.Z., Run,Q.G.,
            Su,Y.C., Scott,H.S., Kao,K.J. and She,J.X.
  TITLE     Molecular cloning and characterization of a novel gene family of
            four ancient conserved domain proteins (ACDP)
  JOURNAL   Gene 306, 37-44 (2003)
   PUBMED   12657465
REFERENCE   9  (bases 1 to 4783)
  AUTHORS   Downey,L.M., Keen,T.J., Jalili,I.K., McHale,J., Aldred,M.J.,
            Robertson,S.P., Mighell,A., Fayle,S., Wissinger,B. and
            Inglehearn,C.F.
  TITLE     Identification of a locus on chromosome 2q11 at which recessive
            amelogenesis imperfecta and cone-rod dystrophy cosegregate
  JOURNAL   Eur J Hum Genet 10 (12), 865-869 (2002)
   PUBMED   12461695
REFERENCE   10 (bases 1 to 4783)
  AUTHORS   Jalili,I.K. and Smith,N.J.
  TITLE     A progressive cone-rod dystrophy and amelogenesis imperfecta: a new
            syndrome
  JOURNAL   J Med Genet 25 (11), 738-740 (1988)
   PUBMED   3236352
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC063295.1 and AB046812.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020184.3.
            
            Summary: This gene encodes a member of the ancient conserved domain
            containing protein family. Members of this protein family contain a
            cyclin box motif and have structural similarity to the cyclins. The
            encoded protein may play a role in metal ion transport. Mutations
            in this gene are associated with Jalili syndrome which consists of
            cone-rod dystrophy and amelogenesis imperfecta. [provided by
            RefSeq, Feb 2010].
            
            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 :: BC063295.1, AB046812.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000377075.3/ ENSP00000366275.2
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-473               BC063295.1         1-473
            474-4780            AB046812.1         204-4510
            4781-4783           BC063295.1         4781-4783
FEATURES             Location/Qualifiers
     source          1..4783
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2q11.2"
     gene            1..4783
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /note="cyclin and CBS domain divalent metal cation
                     transport mediator 4"
                     /db_xref="GeneID:26504"
                     /db_xref="HGNC:HGNC:105"
                     /db_xref="MIM:607805"
     exon            1..1500
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     CDS             99..2426
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /note="ancient conserved domain protein 4; metal
                     transporter CNNM4; cyclin-M4; ancient conserved
                     domain-containing protein 4"
                     /codon_start=1
                     /product="metal transporter CNNM4 precursor"
                     /protein_id="NP_064569.3"
                     /db_xref="CCDS:CCDS2024.2"
                     /db_xref="GeneID:26504"
                     /db_xref="HGNC:HGNC:105"
                     /db_xref="MIM:607805"
                     /translation="MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQG
                     TIVGMRLASCNKSCGTNPDGIIFVSEGSTVNLRLYGYSLGNISSNLISFTEVDDAETL
                     HKSTSCLELTKDLVVQQLVNVSRGNTSGVLVVLTKFLRRSESMKLYALCTRAQPDGPW
                     LKWTDKDSLLFMVEEPGRFLPLWLHILLITVLLVLSGIFSGLNLGLMALDPMELRIVQ
                     NCGTEKERRYARKIEPIRRKGNYLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASST
                     IGIVIFGEILPQALCSRHGLAVGANTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRT
                     VYNREKLMEMLKVTEPYNDLVKEELNMIQGALELRTKTVEDIMTQLQDCFMIRSDAIL
                     DFNTMSEIMESGYTRIPVFEDEQSNIVDILYVKDLAFVDPDDCTPLKTITRFYNHPVH
                     FVFHDTKLDAMLEEFKKGKSHLAIVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEI
                     LDESDMYTDNRSRKRVSEKNKRDFSAFKDADNELKVKISPQLLLAAHRFLATEVSQFS
                     PSLISEKILLRLLKYPDVIQELKFDEHNKYYARHYLYTRNKPADYFILILQGKVEVEA
                     GKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLSRSASLSYPDRTDVSTAATLAGS
                     SNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGCTTHM
                     ENLAEKSELPVVDETTTLLNERNSLLHKASHENAI"
     exon            1501..1644
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1645..1779
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1780..1949
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     exon            1950..2046
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     exon            2047..2228
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     exon            2229..4783
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4760..4765
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /note="hexamer: AATAAA"
     polyA_site      4783
                     /gene="CNNM4"
                     /gene_synonym="ACDP4; SLC70A4"
                     /note="major polyA site"
ORIGIN      
        1 agttggctcg gcggcagcgg agcggccgga gctgcggtgc ggaccggggc cgcgcggcgt
       61 ggcgcgggga gcggcggcgg cggcagagcc agagcaacat ggcgccggtg ggcgggggcg
      121 ggcgcccggt cggcggaccg gcccgcgggc gcctcctcct ggcggcgccg gtgctgctgg
      181 tgctgctgtg ggcgctgggg gcccggggcc agggcagccc ccagcagggc acgatcgtgg
      241 gcatgaggct ggcgagctgc aacaagtcgt gtgggacgaa cccggatggc atcatcttcg
      301 tgtccgaggg cagcaccgtg aacctgaggc tgtacggcta cagcctgggc aacatctcca
      361 gcaacctgat ctccttcacc gaggtggacg atgccgagac cctccacaag tccaccagct
      421 gcctcgagct caccaaggac ctggtcgtcc agcagctggt caacgtgagc cgcgggaaca
      481 cgtccggcgt gctggtggtg ctcaccaagt tcctccggag gagcgagagc atgaagctgt
      541 atgcactgtg cacccgggcc cagcccgacg ggccctggct gaagtggacg gacaaggact
      601 cactgctctt catggtggag gagcctggga ggttcctgcc tctctggctg cacattctcc
      661 taattacggt gctgctggtg ctgtcgggca tattttctgg cctcaacctc gggcttatgg
      721 ccctggaccc catggagctg cgcatcgtgc agaactgtgg caccgagaag gagaggcgct
      781 atgcccgcaa gattgagccc atccggcgca agggcaacta ccttctctgc tcgttgctcc
      841 tagggaacgt gctggtcaac acctccctca caatccttct agacaacctc atcgggtccg
      901 gcctcatggc ggtggcctcc tccaccattg gcattgtcat ctttggggag atcctacctc
      961 aggccctgtg ctcccgacat gggctggctg tgggtgccaa caccatcctt ctcaccaaat
     1021 tctttatgct actcaccttc cccctcagtt ttcccattag caagctcctg gacttttttc
     1081 tgggccagga gattcgcact gtttacaacc gggagaagct gatggagatg ttgaaggtga
     1141 cggagcccta taatgacctc gtgaaagagg agctcaatat gatccagggt gccctggaac
     1201 tacggaccaa aactgtagag gatatcatga cccagctcca ggactgcttc atgatccgca
     1261 gcgatgccat cctggacttc aacaccatgt cggagataat ggaaagcggc tatactcgca
     1321 tcccggtgtt cgaagacgag cagtccaata ttgtagatat tctctacgtc aaagacttgg
     1381 cctttgtgga ccccgatgac tgcacccccc tcaagactat cactcgcttc tataaccacc
     1441 cggtgcactt tgtcttccat gacaccaagt tggatgccat gctggaggag ttcaagaagg
     1501 ggaagtccca cctggccatc gtgcagaagg taaacaacga gggtgagggt gaccccttct
     1561 acgaggtcct gggcctggtc accctggagg acgtgatcga ggagatcatc aagtcggaga
     1621 tcctggacga gtccgacatg tacactgaca accgaagccg gaagcgggtg tctgagaaga
     1681 acaagcgtga cttctctgcc ttcaaggatg cggacaatga gctcaaagtg aaaatctccc
     1741 cgcagctcct cctggccgct catcgcttcc tagccacaga ggtctctcag tttagcccct
     1801 ccctgatatc agagaagatc ctgctgcggc tactcaagta cccagatgtc attcaggaac
     1861 tcaagtttga cgagcacaat aagtactacg cccgccatta cctgtacacc cgaaataagc
     1921 cggccgacta cttcatcctc atcctgcagg ggaaggtgga ggtggaggca gggaaggaga
     1981 acatgaagtt tgagacgggc gccttctcct actatgggac tatggccctg acctcggtcc
     2041 cctccgaccg ttccccagca caccccaccc cactcagccg ctcagcctcc ctcagttacc
     2101 cagaccgcac agacgtctca actgcagcaa ccttggcagg cagcagcaac cagtttggca
     2161 gctctgtcct gggccagtac atctctgact tcagcgtccg ggcactcgtg gacttgcagt
     2221 acatcaagat cactcggcag cagtaccaga acgggctgct ggcttctcgc atggagaaca
     2281 gccctcagtt tcccatagac gggtgcacca cccacatgga gaacttggcc gagaagtctg
     2341 agctgcctgt ggtggacgag accacaactc ttctcaacga gcgtaactcc ttgctgcaca
     2401 aagcctccca cgagaatgcc atctgacagg agggcccggg gccccctgcc caccctgcgg
     2461 gggcctcccc agtgggccca catgaagaga gggaacctgt tagtccagaa aggatacgga
     2521 tagatagcct gtctgactga acagccagat ggcccccagc ctatggggga tctggcctct
     2581 gccagggacc tctgagtagc tctgaggtgg cactgtccag ccctggatag ggggggcagt
     2641 gggccagcta ccgtaagcaa aggctgtttt ttactgagag aatttctaaa gtaggctcat
     2701 cacttttttt taaatatcat tttgggaagg gaagacaggg ttaaggaact ttatttaaaa
     2761 aaaaaatatt tttttcctaa aaactataaa agaggaaggg tttcttgtcc cgggaagcaa
     2821 cggacataat ctgttcccag ccatggcctt ccagcttgtg tccctgattc agggagctct
     2881 cccttcctcc tcctcctcct cctccggagg tgggatccca gagcctgcca gtggaggctt
     2941 atctgttggg aggaagacag ctcttcacag aagcaaagaa caaaatggca tggagatcag
     3001 ctgcctgagc acctgcgctg tagcttatct gacaacgctg aggccacgag ctcctgggta
     3061 gctgtgatca gggacatgat aatctgagct atgcagagga gcacatctgt tgtcaactgc
     3121 tgtacccaga aatctagaac tctgccgaca gcctctcctg gtgagtcggg actcagctga
     3181 ggacacatcc ccaccctgcc tcccatctgg ccctttggac aactggccct ttgtgacagg
     3241 gctgactcaa gtgttaggca gggtctcagg cctttgattg ctcacccctg ctccccaggc
     3301 cctgccctca cttttaccaa aggttctccc tcggcgggag ggcatctgtg ttggaggtga
     3361 tttgtctggg ttcttccttt tggttccaga aggaactgtc agtcatcagc atctgcgttg
     3421 ttagcagtca gtaccacccc cgccccacaa tgacagtcaa ggctgacttg ttgactgaag
     3481 cctttttccc agacccctta tttcgaatcc ccaagcttca gtccctcttg ggggtggaga
     3541 caagaggaca tgtgggaagc cacggaagca ggttctttat gtcctctcct ctgtggctgg
     3601 caaggctcac ctggccttat ccacccactt atggaacctc aggagaggag ggctcctcct
     3661 aaaggcatgc agcttgcagc ccctctttct cacacgtgtg atcctagcgt gagaggtcat
     3721 cctgcccttg ctgaagttag tagtactgta ctaagagctc tgccctcatg tgaattcctg
     3781 ccctggcgcc tcttccctgg ggctgaatca ggccctgctg caaaactcca ggcttcccag
     3841 ggttggggag gctgtgggac caaggtccat gttggtcctt ccactgggtg cagcaggagc
     3901 tgggtcccga gagcctggca ggtgaaactc tgcaggcctt ccgcctgatt attatttatt
     3961 cactcctttc ctcaccccaa gtgccctgct ctccaggtgc ctagagtatc ctaactctta
     4021 ggaccaggga ttgtcttgca ccaagtatgc ctacccctgg ccagtctgag gtctcctagc
     4081 catagaactg actcctggaa gcctggagag aaggtggtga cacccatggg ttctcaactg
     4141 taaggaaaaa agacaccaga cttttgttcc ctagtggggg aaagccctta gtcttgtaca
     4201 ggagcagctt gctcccaagt ccttttggaa gctggcagag ctatattcct gacagccctg
     4261 actgccaggt agagcaaaag acattggtgg gggtatgtga agcaaaaggg gcaggtgcac
     4321 acacctccac agtgacctct gtgcacacgg ttaccaccaa ctggctggcc ctcctcctct
     4381 tccctggccc attgatcatc ccttctcaca gagggtcatc attatttcca aatattgttt
     4441 gtctgatgac ttcctcttcc cagtgcaatt tttcccttcc tatttcaacc tctggttcct
     4501 gggatgagcc ataccctgga actggcccac ccactgtgtc ttccacgtaa gggagacctt
     4561 tgcaaagggc atccaaatgg gtaggcaggt gacagccgcc gtatttattt tgcataatat
     4621 tttaatttgt atatttttgt gatttatttt ggcgttatga gtttgactct cggggagttt
     4681 tgttgttatg actcttgtgt cttttgtcac aaaacaatga tatttgctaa acgatatatg
     4741 gaatttattt ttgattggta ataaaaaatc aaatatgtat aaa
//
