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    CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2 [ Homo sapiens (human) ]

    Gene ID: 54805, updated on 31-Mar-2024

    Summary

    Official Symbol
    CNNM2provided by HGNC
    Official Full Name
    cyclin and CBS domain divalent metal cation transport mediator 2provided by HGNC
    Primary source
    HGNC:HGNC:103
    See related
    Ensembl:ENSG00000148842 MIM:607803; AllianceGenome:HGNC:103
    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
    ACDP2; HOMG6; HOMGSMR
    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 an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
    Expression
    Ubiquitous expression in kidney (RPKM 2.4), placenta (RPKM 1.9) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CNNM2 in Genome Data Viewer
    Location:
    10q24.32
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (102918294..103090222)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (103804071..103976463)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104678051..104849979)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene BORCS7-ASMT readthrough (NMD candidate) Neighboring gene uncharacterized LOC124902567 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104657816-104658316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:104658317-104658817 Neighboring gene uncharacterized LOC107984265 Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 3077 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104677691-104678377 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:104677004-104677690 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2775 Neighboring gene MPRA-validated peak1082 silencer Neighboring gene Sharpr-MPRA regulatory region 2614 Neighboring gene 5'-nucleotidase, cytosolic II Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3953 Neighboring gene ribosomal protein S15a pseudogene 29 Neighboring gene MARCKS like 1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • 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 Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Hypomagnesemia, seizures, and intellectual disability 1
    MedGen: C4225333 OMIM: 616418 GeneReviews: Not available
    Compare labs
    Renal hypomagnesemia 6
    MedGen: C3151295 OMIM: 613882 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    A comprehensive family-based replication study of schizophrenia genes.
    EBI GWAS Catalog
    A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
    EBI GWAS Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    EBI GWAS Catalog
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
    EBI GWAS Catalog
    Genome-wide association study identifies eight loci associated with blood pressure.
    EBI GWAS Catalog
    Genome-wide association study identifies five new schizophrenia loci.
    EBI GWAS Catalog
    Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
    EBI GWAS Catalog
    Genome-wide association study of intracranial aneurysm identifies three new risk loci.
    EBI GWAS Catalog
    Genome-wide association study reveals genetic risk underlying Parkinson's disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog
    Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
    EBI GWAS Catalog
    Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
    EBI GWAS Catalog
    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
    EBI GWAS Catalog
    Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
    EBI GWAS Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables magnesium ion transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in magnesium ion homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within magnesium ion homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in magnesium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in basolateral plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    metal transporter CNNM2
    Names
    ancient conserved domain-containing protein 2
    cyclin M2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_031932.2 RefSeqGene

      Range
      5002..176930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017649.5NP_060119.3  metal transporter CNNM2 isoform 1

      See identical proteins and their annotated locations for NP_060119.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AK023066, AL139817, AL356608, BC021222, BU621540, BX113753
      Consensus CDS
      CCDS44474.1
      UniProtKB/Swiss-Prot
      Q5T569, Q5T570, Q8WU59, Q9H8M5, Q9H952, Q9NRK5, Q9NXT4
      Related
      ENSP00000358894.3, ENST00000369878.9
      Conserved Domains (1) summary
      cl27264
      Location:256586
      CorC_HlyC; Transporter associated domain
    2. NM_199076.3NP_951058.1  metal transporter CNNM2 isoform 2

      See identical proteins and their annotated locations for NP_951058.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the 3' coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AK023066, AK023479, AL139817, AL356608, BC021222, BU621540, BX113753
      Consensus CDS
      CCDS44475.1
      UniProtKB/Swiss-Prot
      Q9H8M5
      Related
      ENSP00000392875.2, ENST00000433628.2
      Conserved Domains (1) summary
      cl27264
      Location:256586
      CorC_HlyC; Transporter associated domain
    3. NM_199077.3NP_951059.1  metal transporter CNNM2 isoform 3

      See identical proteins and their annotated locations for NP_951059.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate terminal exon and lacks a large portion of the 3' coding region, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AL356608, BC021222
      Consensus CDS
      CCDS7543.1
      UniProtKB/Swiss-Prot
      Q9H8M5
      Related
      ENSP00000358891.3, ENST00000369875.3
      Conserved Domains (1) summary
      cl27264
      Location:256543
      CorC_HlyC; Transporter associated domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      102918294..103090222
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      103804071..103976463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)