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Aliases for CNNM2 Gene

Aliases for CNNM2 Gene

  • Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 2 2 3 5
  • Ancient Conserved Domain-Containing Protein 2 3 4
  • Cyclin M2 2 3
  • ACDP2 3 4
  • Metal Transporter CNNM2 3
  • Cyclin-M2 4
  • HOMGSMR 3
  • HOMG6 3

External Ids for CNNM2 Gene

Previous HGNC Symbols for CNNM2 Gene

  • ACDP2

Previous GeneCards Identifiers for CNNM2 Gene

  • GC10P103571
  • GC10P103911
  • GC10P104809
  • GC10P104342
  • GC10P104668
  • GC10P098313

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, Renal and Hypomagnesemia, Seizures, And Mental Retardation. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM4.

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 CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNNM2 Gene

Genomics for CNNM2 Gene

Regulatory Elements for CNNM2 Gene

Enhancers for CNNM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G103043 1.9 Ensembl ENCODE 11.4 +126.7 126716 2.8 ARID1B TCF12 FOXA2 TAL1 BHLHE40 TEAD4 FOS ZNF652 AS3MT CNNM2 ARL3 SFXN2 ENSG00000278498 PIR62550
GH10G102772 1.9 FANTOM5 Ensembl ENCODE dbSUPER 10.2 -139.6 -139608 11.8 FOXA2 PKNOX1 ZFP64 SIN3A YY1 ZNF121 GLIS2 GATA2 FOS ZNF263 PDCD11 SFXN2 ARL3 PPRC1 TAF5 LDB1 AS3MT INA BORCS7 CYP17A1
GH10G103237 1.6 FANTOM5 Ensembl ENCODE 10.8 +322.1 322076 5.0 PKNOX1 ARID4B SIN3A BRCA1 ZNF48 ZNF121 FOS DEK ZNF263 REST BORCS7 NT5C2 AS3MT INA CNNM2 PFN1P11 CYP17A1 PTGES3P4 RNU11-3P ARL3
GH10G102785 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.1 -132.1 -132094 2.3 CTCF MAX HNF4A RAD21 NR2F2 GABPA AS3MT CYP17A1 PTGES3P4 PFN1P11 BORCS7 CNNM2 SFXN2 NFKB2 NT5C2 RNU6-1231P
GH10G102811 1.5 Ensembl ENCODE dbSUPER 10.1 -103.5 -103466 6.3 PKNOX1 FOXA2 ATF1 MLX ARID4B FEZF1 DMAP1 ZNF48 YY1 TCF12 AS3MT CYP17A1 PTGES3P4 PFN1P11 ARL3 SFXN2 CNNM2 WBP1L BORCS7 C10orf95
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CNNM2 on UCSC Golden Path with GeneCards custom track

Promoters for CNNM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032824 -193 2201 HDGF PKNOX1 FOXA2 MLX ARNT AGO1 ZFP64 ARID4B SIN3A DMAP1

Genomic Location for CNNM2 Gene

Chromosome:
10
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

Genes around CNNM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNNM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNNM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CNNM2 Gene

  • Ubiquitination at posLast=413413
  • Glycosylation at Asn112
  • Modification sites at PhosphoSitePlus

Other Protein References for CNNM2 Gene

No data available for DME Specific Peptides for CNNM2 Gene

Domains & Families for CNNM2 Gene

Protein Domains for CNNM2 Gene

Suggested Antigen Peptide Sequences for CNNM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9H8M5

UniProtKB/Swiss-Prot:

CNNM2_HUMAN :
  • Belongs to the ACDP family.
Family:
  • Belongs to the ACDP family.
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:0005524 ATP binding IEA --
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with CNNM2: view
genes like me logo Genes that share phenotypes with CNNM2: view

Human Phenotype Ontology for CNNM2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNNM2 Gene

MGI Knock Outs for CNNM2:

Animal Model Products

miRNA for CNNM2 Gene

miRTarBase miRNAs that target CNNM2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IMP 21397062
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with CNNM2: view

Pathways & Interactions for CNNM2 Gene

SuperPathways for CNNM2 Gene

No Data Available

Interacting Proteins for CNNM2 Gene

Gene Ontology (GO) - Biological Process for CNNM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0010960 magnesium ion homeostasis IMP 21397062
GO:0015693 magnesium ion transport IEA --
GO:1903830 magnesium ion transmembrane transport IEA --
genes like me logo Genes that share ontologies with CNNM2: view

No data available for Pathways by source and SIGNOR curated interactions for CNNM2 Gene

Transcripts for CNNM2 Gene

Unigene Clusters for CNNM2 Gene

Cyclin M2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CNNM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CNNM2 Gene

This gene is overexpressed in Serum (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CNNM2 Gene



Protein tissue co-expression partners for CNNM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNNM2 Gene:

CNNM2

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.

Evidence on tissue expression from TISSUES for CNNM2 Gene

  • Intestine(4.2)
  • Kidney(2.4)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CNNM2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • head
  • meninges
  • neck
  • parathyroid
  • skull
  • thyroid
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CNNM2: view

Primer Products

No data available for mRNA differential expression in normal tissues for CNNM2 Gene

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 34 35
  • 99.7 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CNNM2 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNNM2 34 35
  • 94.7 (n)
cow
(Bos Taurus)
Mammalia CNNM2 34 35
  • 93.63 (n)
oppossum
(Monodelphis domestica)
Mammalia CNNM2 35
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnnm2 34
  • 91.96 (n)
mouse
(Mus musculus)
Mammalia Cnnm2 34 16 35
  • 91.66 (n)
chicken
(Gallus gallus)
Aves CNNM2 34 35
  • 87.66 (n)
lizard
(Anolis carolinensis)
Reptilia CNNM2 35
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cnnm4 34
  • 81.36 (n)
zebrafish
(Danio rerio)
Actinopterygii cnnm2a 35
  • 81 (a)
OneToMany
CNNM2 (2 of 2) 35
  • 80 (a)
OneToMany
LOC565702 34
  • 76.66 (n)
fruit fly
(Drosophila melanogaster)
Insecta uex 34 35
  • 55.62 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002094 34
  • 54.9 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C52D10.12 34
  • 48.91 (n)
C33D12.2 36
  • 44 (a)
R04E5.2 36 35
  • 36 (a)
C52D10.12 36 35
  • 34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAM3 35
  • 25 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G14230 34
  • 46.8 (n)
rice
(Oryza sativa)
Liliopsida Os05g0395300 34
  • 48.97 (n)
Species where no ortholog for CNNM2 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs387906975 Pathogenic, Hypomagnesemia 6 (HOMG6) [MIM:613882] 103,049,788(+) CGTCA(C/T)CTTAG nc-transcript-variant, reference, missense
rs786205909 Pathogenic, Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM:616418] 102,918,844(+) TCACC(A/G)AGCAC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs786205910 Pathogenic, Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM:616418] 102,919,549(+) TCGGA(A/G)AGATC nc-transcript-variant, upstream-variant-2KB, reference, missense
rs794726858 Pathogenic, Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM:616418] 102,919,286(+) CCTGT(C/G)GGGCA nc-transcript-variant, upstream-variant-2KB, reference, missense
VAR_073850 Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM:616418]

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

Variant ID Type Subtype PubMed ID
esv2449517 CNV insertion 19546169
nsv1048637 CNV gain 25217958
nsv7528 CNV deletion 18451855

Variation tolerance for CNNM2 Gene

Residual Variation Intolerance Score: 8.57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.50; 55.33% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNNM2 Gene

Human Gene Mutation Database (HGMD)
CNNM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNNM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNNM2 Gene

Disorders for CNNM2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CNNM2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search CNNM2 in MalaCards View complete list of genes associated with diseases

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.
  • Hypomagnesemia, seizures, and mental retardation (HOMGSMR) [MIM:616418]: A disease characterized by renal wasting of magnesium, low serum magnesium, seizures, and variable degrees of delayed psychomotor development. {ECO:0000269 PubMed:24699222}. 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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNNM2
genes like me logo Genes that share disorders with CNNM2: view

No data available for Genatlas for CNNM2 Gene

Publications for CNNM2 Gene

  1. CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia. (PMID: 24699222) Arjona F.J. … Hoenderop J.G. (PLoS Genet. 2014) 2 3 4 64
  2. Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. (PMID: 21393841) GA^mez GarcA-a I. … MartA-nez-Cruz L.A. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2011) 2 3 64
  3. A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease. (PMID: 21378988) (Nat. Genet. 2011) 3 46 64
  4. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 46 64
  5. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. (PMID: 21397062) Stuiver M. … Muller D. (Am. J. Hum. Genet. 2011) 3 4 64

Products for CNNM2 Gene

Sources for CNNM2 Gene

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