CNNM2 Gene
protein-coding GIFtS: 52
GCID: GC10P104668
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|
cyclin M2
(Previous symbol: ACDP2)
| |
Aliases
for CNNM2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Cyclin M21 2 | | ACDP21 2 3 5 | | Ancient Conserved Domain-Containing Protein 22 3 | | Metal Transporter CNNM22 | | Cyclin-M23 |
Export aliases for CNNM2 gene to outside databasesPrevious GC identifers: GC10P103571 GC10P103911 GC10P104809 GC10P104342 GC10P098313 |
Summaries
for CNNM2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for CNNM2:
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein familycontain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an importantrole in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in thisgene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoformshave been observed for this gene. (provided by RefSeq, Dec 2011)
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5Function: 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)
|
Genomic Views
for CNNM2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000010.10 NC_018921.1 NT_030059.13
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the CNNM2 gene promoter:
AhR p53 Sp1 CUTL1 YY1 PPAR-alpha CREB SEF-1 (1) Hlf
Other transcription factors
Search SABiosciences Chromatin IP Primers for CNNM2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNNM2 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 10q24.32 Ensembl cytogenetic band: 10q24.32 HGNC cytogenetic band: 10q23-q24CNNM2 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 10 GeneLoc Exon Structure GeneLoc location for GC10P104668: view genomic region
(about GC identifiers)
Start:
|
104,678,071 bp from pter |
End:
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104,838,344 bp from pter |
Size:
|
160,274 bases |
Orientation:
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plus strand |
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Proteins
for CNNM2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5 (See
protein sequence)Recommended Name: Metal transporter CNNM2 Size: 875 amino acids; 96623 Da
Subcellular location: Cell membrane; Multi-pass membrane protein (By similarity)
Miscellaneous: Shares weak sequence similarity with the cyclin family, hence its name. However, it has no cyclin-likefunction in vivo
Sequence caution: Sequence=AAF86374.1; Type=Erroneous initiation; Note=Translation N-terminally extended;Sequence=BAA90926.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=BAB14386.1;Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAI16511.1; Type=Erroneous gene modelprediction; Sequence=CAI16512.1; Type=Erroneous gene model prediction; Sequence=CAI40076.1; Type=Erroneous gene modelprediction; Sequence=CAI40077.1; Type=Erroneous gene model prediction;
Secondary accessions: Q5T569 Q5T570 Q8WU59 Q9H952 Q9NRK5 Q9NXT4Alternative splicing: 3 isoforms: Q9H8M5-1 Q9H8M5-2 Q9H8M5-3 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CNNM2: NX_Q9H8M5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9H8M5
CNNM2 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_060119.3 NP_951058.1 NP_951059.1
ENSEMBL proteins: ENSP00000402831 ENSP00000392875 ENSP00000358891 ENSP00000358894 ENSP00000286899
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016021 | integral to membrane |
IEA | -- | | GO:0016323 | basolateral plasma membrane |
IMP | -- |
CNNM2 for ontologies About GeneDecksing
CNNM2 Antibody Products:
Assay Products for CNNM2: |
Protein
Domains /
Families
for CNNM2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
CNNM2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9H8M5ProtoNet protein and cluster: Q9H8M5 2 Blocks protein families: IPB000644 CBS domain IPB002550 CBS
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5Similarity: Belongs to the ACDP familySimilarity: Contains 2 CBS domainsSimilarity: Contains 1 DUF21 domain |
Function
for CNNM2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5Function: 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)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNNM2 (see all 4)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNNM2 |
|
Pathways & Interactions
for CNNM2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CNNM2
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for CNNM2 (Q9H8M53 ENSP000003588944) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
CNNM2 for ontologies About GeneDecksing
|
Drugs & Compounds
for CNNM2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for CNNM2
Search CenterWatch for drugs/clinical trials and news about CNNM2
|
Transcripts
for CNNM2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for CNNM2 gene (3 alternative transcripts): NM_017649.4 NM_199076.2 NM_199077.2 Unigene Cluster for CNNM2: Cyclin M2 Hs.643509 [show with all ESTs]Unigene Representative Sequence: NM_0176496 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000457502(uc001kwm.3 uc001kwn.3) ENST00000433628 ENST00000369875(uc001kwl.3)
ENST00000475511 ENST00000369878 ENST00000345419
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CNNM2 (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): CNNM2 (NM_199077) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CNNM2 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNNM2 |
Additional cDNA sequence: AF216962.1 AK000071.1 AK023066.1 AK023479.1 BC021222.2 6 DOTS entries: DT.95157342 DT.412460 DT.438085 DT.306632 DT.95157340 DT.99999302 24/103 AceView cDNA sequences (see all 103): AK023066 BU632128 BC021222 BM711859 BM727814 AF216962 AI499732 NM_199076 Z41609 BX113753 AW452585 NM_199077 CF890717 AW611666 BU675201 AW469552 AK023479 BM562876 AA430042 NM_017649 AK090785 F04472 AI827730 CF886849
GeneLoc Exon Structure
4 Alternative Splicing Database (ASD) splice patterns (SP) for CNNM2 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
|---|
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| SP1: | | | | | - | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | - | | | | | | | | - | | | | - | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | - | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for CNNM2
|
Expression
for CNNM2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| CNNM2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GGGCCCGGCA
About this image
See CNNM2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CNNM2
SOURCE GeneReport for Unigene cluster: Hs.643509
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5Tissue specificity: Widely expressed. Expressed at higher level in brain, kidney and placenta, while it is weaklyexpressed in skeletal muscle. In the kidney, it is expressed in the distal convoluted tubule and the thick ascendinglimb of Henle loop
SABiosciences Custom PCR Arrays for CNNM2
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CNNM2
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNNM2 |
Orthologs
for CNNM2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for CNNM2 gene from 9/27 species (see all 27) About this table
ENSEMBL Gene Tree for CNNM2 (if available)
TreeFam Gene Tree for CNNM2 (if available) |
Paralogs
for CNNM2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for CNNM2 gene
- CNNM12 CNNM32 CNNM42
4 SIMAP similar genes for CNNM2 using alignment to 1 protein entry: CNNM2_HUMAN:DKFZp434I1016 CNNM1 CNNM4 CNNM3
CNNM2 for paralogs About GeneDecksing
|
Genomic Variants
for CNNM2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 10 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for CNNM2 (104678071 - 104838344 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for CNNM2
3 CNVs: 75372 85455 85454
2 Indels: 101031 75373
Human Gene Mutation Database (HGMD): CNNM2
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CNNM2 |
|
Disorders
/ Diseases
for CNNM2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
CNNM2 for disorders About GeneDecksing
OMIM gene information: 607803
OMIM disorders: --
UniProtKB/Swiss-Prot: CNNM2_HUMAN, Q9H8M5
Defects in CNNM2 are the cause of hypomagnesemia type 6 (HOMG6) [MIM:613882]. A renal disease characterized byseverely lowered serum magnesium levels in the absence of other electrolyte disturbances. Affected individuals show aninappropriately normal urinary magnesium excretion, demonstrating a defect in tubular reabsorption. Age of clinicalonset is highly variable and some affected individuals are asymptomatic
13  diseases for CNNM2: About MalaCardshypomagnesemia cone-rod dystrophy amelogenesis imperfecta gigantism
parkinson's disease alzheimer's disease pneumonia hypertension
neuroblastoma tuberculosis malaria neuronitis
mycobacterium tuberculosis
Human Genome Epidemiology (HuGE) Navigator: CNNM2 (5 documents)
Export disorders for CNNM2 gene to outside databases
|
Publications
for CNNM2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for CNNM2 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with CNNM2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. (PubMed id 21397062)1, 2 Stuiver M.... Muller D. (2011)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). (PubMed id 12657465)1, 2 Wang C.-Y.... She J.-X. (2003)
- Membrane topology and intracellular processing of Cyclin M2 (CNNM2). (PubMed id 22399287)1 de Baaij J.H.... Hoenderop J.G. (2012)
- Purification, crystallization and preliminary crystall ographic analysis of the CBS-domain pair of cyclin M2 (CNNM2). (PubMed id 23027747)1 Gomez-Garcia I....Martinez-Cruz L.A. (2012)
- Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared wit h bipolar disorder. (PubMed id 22688191)1 Bergen S.E....Sullivan P.F. (2012)
- Genome-wide association study identifies five new schi zophrenia loci. (PubMed id 21926974)1 (2011)
- Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1 Schunkert H....Samani N.J. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A genome-wide association study in Europeans and Sout h Asians identifies five new loci for coronary artery disease. (PubMed id 21378988)1 (2011)
|
External Searches for CNNM2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing CNNM2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CNNM2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CNNM2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for CNNM2 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for CNNM2 gene:
Search GeneIP for patents involving CNNM2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for CNNM2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNNM2 |
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