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

Gene ID: 54805, updated on 5-Aug-2018

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; Vega:OTTHUMG00000018976
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

Genomic context

See CNNM2 in Genome Data Viewer
Location:
10q24.32
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 10 NC_000010.11 (102918293..103087169)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (104678075..104838344)

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 translation initiation factor IF-2-like Neighboring gene arsenite methyltransferase Neighboring gene ribosomal protein L22 pseudogene 17 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Hypomagnesemia 6, renal
MedGen: C3151295 OMIM: 613882 GeneReviews: Not available
Compare labs
Hypomagnesemia, seizures, and mental retardation
MedGen: C4225333 OMIM: 616418 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
magnesium ion transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
magnesium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
PubMed 
magnesium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
basolateral plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_017649.4NP_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, BC021222, BU621540, BX113753
    Consensus CDS
    CCDS44474.1
    UniProtKB/Swiss-Prot
    Q9H8M5
    Related
    ENSP00000358894.3, OTTHUMP00000020387, ENST00000369878.8, OTTHUMT00000050113
    Conserved Domains (1) summary
    cl27264
    Location:256586
    CorC_HlyC; Transporter associated domain
  2. NM_199076.2NP_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, BC021222, BU621540, BX113753
    Consensus CDS
    CCDS44475.1
    UniProtKB/Swiss-Prot
    Q9H8M5
    Related
    ENSP00000392875.2, OTTHUMP00000020388, ENST00000433628.2, OTTHUMT00000050114
    Conserved Domains (1) summary
    cl27264
    Location:256586
    CorC_HlyC; Transporter associated domain
  3. NM_199077.2NP_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)
    BC021222
    Consensus CDS
    CCDS7543.1
    UniProtKB/Swiss-Prot
    Q9H8M5
    Related
    ENSP00000358891.3, OTTHUMP00000020389, ENST00000369875.3, OTTHUMT00000050116
    Conserved Domains (1) summary
    cl27264
    Location:256543
    CorC_HlyC; Transporter associated domain

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_000010.11 Reference GRCh38.p12 Primary Assembly

    Range
    102918293..103087169
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269933.4XP_005269990.1  metal transporter CNNM2 isoform X1

    See identical proteins and their annotated locations for XP_005269990.1

    Conserved Domains (2) summary
    pfam01595
    Location:257431
    DUF21; Domain of unknown function DUF21
    cl15354
    Location:470540
    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 ...
  2. XM_006717908.2XP_006717971.1  metal transporter CNNM2 isoform X2

    Conserved Domains (2) summary
    pfam01595
    Location:257431
    DUF21; Domain of unknown function DUF21
    cl15354
    Location:470540
    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 ...
  3. XM_011539911.3XP_011538213.1  metal transporter CNNM2 isoform X1

    See identical proteins and their annotated locations for XP_011538213.1

    Conserved Domains (2) summary
    pfam01595
    Location:257431
    DUF21; Domain of unknown function DUF21
    cl15354
    Location:470540
    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 ...

RNA

  1. XR_001747121.1 RNA Sequence

  2. XR_001747118.1 RNA Sequence

  3. XR_001747119.2 RNA Sequence

  4. XR_945782.3 RNA Sequence

  5. XR_001747120.1 RNA Sequence

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