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

Gene ID: 54805, updated on 4-Jul-2021

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
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
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Genomic context

See CNNM2 in Genome Data Viewer
Location:
10q24.32
Exon count:
9
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (102918294..103090222)
105.20201022 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 BLOC-1 related complex subunit 7 Neighboring gene uncharacterized LOC107984265 Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17 Neighboring gene Sharpr-MPRA regulatory region 2614 Neighboring gene 5'-nucleotidase, cytosolic II 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
A comprehensive family-based replication study of schizophrenia genes.
GeneReviews: Not available
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
GeneReviews: Not available
Biological insights from 108 schizophrenia-associated genetic loci.
GeneReviews: Not available
Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
GeneReviews: Not available
Genome-wide association study identifies chromosome 10q24.32 variants associated with arsenic metabolism and toxicity phenotypes in Bangladesh.
GeneReviews: Not available
Genome-wide association study identifies eight loci associated with blood pressure.
GeneReviews: Not available
Genome-wide association study identifies five new schizophrenia loci.
GeneReviews: Not available
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder.
GeneReviews: Not available
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
GeneReviews: Not available
Genome-wide association study reveals genetic risk underlying Parkinson's disease.
GeneReviews: Not available
Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Hypomagnesemia 6, renal
MedGen: C3151295 OMIM: 613882 GeneReviews: Not available
Compare labs
Hypomagnesemia, seizures, and mental retardation 1
MedGen: C4225333 OMIM: 616418 GeneReviews: Not available
Compare labs
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
GeneReviews: Not available
Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis.
GeneReviews: Not available
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
GeneReviews: Not available
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
GeneReviews: Not available
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
enables transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
involved_in magnesium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
Component Evidence Code Pubs
located_in basolateral plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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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_031932.1 RefSeqGene

    Range
    5001..165270
    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
    Q9H8M5
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

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