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    CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 [ Homo sapiens (human) ]

    Gene ID: 26504, updated on 8-Apr-2018
    Official Symbol
    CNNM4provided by HGNC
    Official Full Name
    cyclin and CBS domain divalent metal cation transport mediator 4provided by HGNC
    Primary source
    HGNC:HGNC:105
    See related
    Ensembl:ENSG00000158158 MIM:607805; Vega:OTTHUMG00000130532
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ACDP4
    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]
    Expression
    Broad expression in colon (RPKM 26.1), thyroid (RPKM 9.4) and 23 other tissues See more
    Orthologs
    Location:
    2q11.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (96760902..96811891)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (97426639..97477628)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene fer-1 like family member 5 Neighboring gene lectin, mannose binding 2 like Neighboring gene microRNA 3127 Neighboring gene CNNM3 divergent transcript Neighboring gene cyclin and CBS domain divalent metal cation transport mediator 3

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Cone-rod dystrophy amelogenesis imperfecta
    MedGen: C1857588 OMIM: 217080 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ37746, FLJ42791, KIAA1592

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    magnesium ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    sodium ion transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    enamel mineralization IEA
    Inferred from Electronic Annotation
    more info
     
    magnesium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    magnesium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion homeostasis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    basolateral plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    metal transporter CNNM4
    Names
    ancient conserved domain protein 4
    ancient conserved domain-containing protein 4
    cyclin-M4

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016608.1 RefSeqGene

      Range
      5001..55990
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_020184.3NP_064569.3  metal transporter CNNM4 precursor

      See identical proteins and their annotated locations for NP_064569.3

      Status: REVIEWED

      Source sequence(s)
      AB046812, BC063295
      Consensus CDS
      CCDS2024.2
      UniProtKB/Swiss-Prot
      Q6P4Q7
      Related
      ENSP00000366275.2, OTTHUMP00000161092, ENST00000377075.2, OTTHUMT00000252954
      Conserved Domains (3) summary
      COG0517
      Location:373500
      CBS; CBS domain [Signal transduction mechanisms]
      cd04590
      Location:382502
      CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
      pfam01595
      Location:196358
      DUF21; Domain of unknown function DUF21

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

      Range
      96760902..96811891
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005263914.4XP_005263971.1  metal transporter CNNM4 isoform X1

      Conserved Domains (3) summary
      COG0517
      Location:373500
      CBS; CBS domain [Signal transduction mechanisms]
      cd04590
      Location:382502
      CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
      pfam01595
      Location:196358
      DUF21; Domain of unknown function DUF21
    2. XM_005263915.4XP_005263972.1  metal transporter CNNM4 isoform X2

      Conserved Domains (3) summary
      COG0517
      Location:373500
      CBS; CBS domain [Signal transduction mechanisms]
      cd04590
      Location:382502
      CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
      pfam01595
      Location:196358
      DUF21; Domain of unknown function DUF21
    3. XM_011510955.3XP_011509257.1  metal transporter CNNM4 isoform X3

      Conserved Domains (3) summary
      COG0517
      Location:373500
      CBS; CBS domain [Signal transduction mechanisms]
      cd04590
      Location:382502
      CBS_pair_CorC_HlyC_assoc; This cd contains two tandem repeats of the cystathionine beta-synthase (CBS pair) domains associated with the CorC_HlyC domain. CorC_HlyC is a transporter associated domain. This small domain is found in Na+/H+ antiporters, in proteins involved in ...
      pfam01595
      Location:196358
      DUF21; Domain of unknown function DUF21
    4. XM_011510956.3XP_011509258.1  metal transporter CNNM4 isoform X4

      Conserved Domains (2) summary
      pfam01595
      Location:196358
      DUF21; Domain of unknown function DUF21
      cl15354
      Location:382474
      CBS_pair; The CBS domain, named after human CBS, is a small domain originally identified in cystathionine beta-synthase and is subsequently found in a wide range of different proteins. CBS domains usually occur in tandem repeats. They associate to form a so-called ...
    5. XM_017003799.1XP_016859288.1  metal transporter CNNM4 isoform X5

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