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Aliases for CNNM2 Gene

Aliases for CNNM2 Gene

  • Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2 2 3
  • ACDP2 3 4 6
  • Ancient Conserved Domain-Containing Protein 2 3 4
  • Cyclin M2 2 3
  • Metal Transporter CNNM2 3
  • Cyclin-M2 4

External Ids for CNNM2 Gene

Previous Symbols for CNNM2 Gene

  • ACDP2

Summaries for CNNM2 Gene

Entrez Gene Summary for CNNM2 Gene

  • 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]

GeneCards Summary for CNNM2 Gene

CNNM2 (Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2) is a Protein Coding gene. Diseases associated with CNNM2 include hypomagnesemia 6 and hypomagnesemia 6, renal. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM1.

UniProtKB/Swiss-Prot for CNNM2 Gene

  • Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNNM2 Gene

Genomics for CNNM2 Gene

Genomic Location for CNNM2 Gene

Start:
102,918,293 bp from pter
End:
103,090,221 bp from pter
Size:
171,929 bases
Orientation:
Plus strand

Genomic View for CNNM2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNNM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNNM2 Gene

Regulatory Elements for CNNM2 Gene

Proteins for CNNM2 Gene

  • Protein details for CNNM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H8M5-CNNM2_HUMAN
    Recommended name:
    Metal transporter CNNM2
    Protein Accession:
    Q9H8M5
    Secondary Accessions:
    • Q5T569
    • Q5T570
    • Q8WU59
    • Q9H952
    • Q9NRK5
    • Q9NXT4

    Protein attributes for CNNM2 Gene

    Size:
    875 amino acids
    Molecular mass:
    96623 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-like function in vivo
    SequenceCaution:
    • Sequence=AAF86374.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA90926.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14386.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAI16511.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI16512.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40076.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=CAI40077.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CNNM2 Gene

    Alternative splice isoforms for CNNM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNNM2 Gene

Proteomics data for CNNM2 Gene at MOPED

Post-translational modifications for CNNM2 Gene

Other Protein References for CNNM2 Gene

No data available for DME Specific Peptides for CNNM2 Gene

Domains for CNNM2 Gene

Protein Domains for CNNM2 Gene

InterPro:
Blocks:
ProtoNet:

UniProtKB/Swiss-Prot:

CNNM2_HUMAN
Domain:
  • Contains 2 CBS domains.:
    • Q9H8M5
  • Contains 1 DUF21 domain.:
    • Q9H8M5
Family:
  • Belongs to the ACDP family.:
    • Q9H8M5
genes like me logo Genes that share domains with CNNM2: view

No data available for Gene Families for CNNM2 Gene

Function for CNNM2 Gene

Molecular function for CNNM2 Gene

UniProtKB/Swiss-Prot Function: Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) (By similarity).

Gene Ontology (GO) - Molecular Function for CNNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030554 adenyl nucleotide binding --
genes like me logo Genes that share ontologies with CNNM2: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CNNM2 Gene

Localization for CNNM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNNM2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNNM2 Gene COMPARTMENTS Subcellular localization image for CNNM2 gene
Compartment Confidence
plasma membrane 5
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IMP 21397062
genes like me logo Genes that share ontologies with CNNM2: view

Pathways for CNNM2 Gene

SuperPathways for CNNM2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0010960 magnesium ion homeostasis IMP 21397062
GO:0015693 magnesium ion transport IEA --
genes like me logo Genes that share ontologies with CNNM2: view

No data available for Pathways by source for CNNM2 Gene

Transcripts for CNNM2 Gene

Unigene Clusters for CNNM2 Gene

Cyclin M2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNNM2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b
SP1: - -
SP2: - - -
SP3: -
SP4:

Relevant External Links for CNNM2 Gene

GeneLoc Exon Structure for
CNNM2
ECgene alternative splicing isoforms for
CNNM2

Expression for CNNM2 Gene

mRNA expression in normal human tissues for CNNM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNNM2 Gene

SOURCE GeneReport for Unigene cluster for CNNM2 Gene Hs.643509

mRNA Expression by UniProt/SwissProt for CNNM2 Gene

Q9H8M5-CNNM2_HUMAN
Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weakly expressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascending limb of Henle loop.
genes like me logo Genes that share expressions with CNNM2: view

Orthologs for CNNM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CNNM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNNM2 36
  • 99.7 (n)
  • 100 (a)
CNNM2 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNNM2 36
  • 93.63 (n)
  • 98.59 (a)
CNNM2 37
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNNM2 36
  • 94.7 (n)
  • 98.86 (a)
CNNM2 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnnm2 36
  • 91.66 (n)
  • 97.83 (a)
Cnnm2 16
Cnnm2 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNNM2 37
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNNM2 37
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnnm2 36
  • 91.96 (n)
  • 97.71 (a)
chicken
(Gallus gallus)
Aves CNNM2 36
  • 87.66 (n)
  • 96.01 (a)
CNNM2 37
  • 95 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNNM2 37
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnnm4 36
  • 81.36 (n)
  • 91.13 (a)
zebrafish
(Danio rerio)
Actinopterygii CNNM2 (2 of 2) 37
  • 80 (a)
OneToMany
cnnm2a 37
  • 81 (a)
OneToMany
LOC565702 36
  • 76.66 (n)
  • 83.38 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002094 36
  • 54.9 (n)
  • 47.26 (a)
fruit fly
(Drosophila melanogaster)
Insecta uex 36
  • 55.62 (n)
  • 55.74 (a)
uex 37
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C52D10.12 37
  • 32 (a)
ManyToMany
CELE_C52D10.12 36
  • 48.91 (n)
  • 41.59 (a)
R04E5.2 37
  • 30 (a)
ManyToMany
C52D10.12 38
  • 34 (a)
R04E5.2 38
  • 36 (a)
C33D12.2 38
  • 44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAM3 37
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14230 36
  • 46.8 (n)
  • 39.24 (a)
rice
(Oryza sativa)
Liliopsida Os05g0395300 36
  • 48.97 (n)
  • 41.59 (a)
Species with no ortholog for CNNM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNNM2 Gene

ENSEMBL:
Gene Tree for CNNM2 (if available)
TreeFam:
Gene Tree for CNNM2 (if available)

Paralogs for CNNM2 Gene

Paralogs for CNNM2 Gene

Selected SIMAP similar genes for CNNM2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CNNM2: view

Variants for CNNM2 Gene

Sequence variations from dbSNP and Humsavar for CNNM2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs837982 -- 102,952,542(-) ctgtc(A/G)cccag intron-variant
rs943036 -- 103,076,290(-) GCCAC(A/G)CTGCA intron-variant
rs943037 -- 103,076,162(-) GTGAC(A/G)GCGTC reference, synonymous-codon
rs943038 -- 103,066,504(-) CTGGC(A/G)GGGTT intron-variant
rs943039 -- 103,065,375(-) TCCCA(A/G)ATTAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNNM2 Gene

Variant ID Type Subtype PubMed ID
esv2449517 CNV Insertion 19546169
nsv7528 CNV Loss 18451855

Relevant External Links for CNNM2 Gene

HapMap Linkage Disequilibrium report
CNNM2
Human Gene Mutation Database (HGMD)
CNNM2

Disorders for CNNM2 Gene

(1) OMIM Diseases for CNNM2 Gene (607803)

UniProtKB/Swiss-Prot

CNNM2_HUMAN
  • Hypomagnesemia 6 (HOMG6) [MIM:613882]: A renal disease characterized by severely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show an inappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinical onset is highly variable and some affected individuals are asymptomatic. {ECO:0000269 PubMed:21397062}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNNM2

Genetic Association Database (GAD)
CNNM2
Human Genome Epidemiology (HuGE) Navigator
CNNM2
genes like me logo Genes that share disorders with CNNM2: view

Publications for CNNM2 Gene

  1. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). (PMID: 12657465) Wang C.-Y. … She J.-X. (Gene 2003) 3 4
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  3. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PMID: 16385451) Grupe A. … Goate A. (Am. J. Hum. Genet. 2006) 3 49
  4. Genome-wide association study identifies eight loci associated with blood pressure. (PMID: 19430483) Newton-Cheh C. … Munroe P.B. (Nat. Genet. 2009) 3 49
  5. Genome-wide association study reveals genetic risk underlying Parkinson's disease. (PMID: 19915575) SimA^n-SA!nchez J. … Gasser T. (Nat. Genet. 2009) 3 49

Products for CNNM2 Gene

Sources for CNNM2 Gene

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