• Gene id: 54805

Gene Summary

• Gene Symbol: CNNM2   Gene   UCSC   Ensembl
• Aliases: ACDP2, HOMG6, HOMGSMR
• Gene name: cyclin and CBS domain divalent metal cation transport mediator 2
• Alternate names: metal transporter CNNM2, ancient conserved domain-containing protein 2, cyclin M2,
• Gene location: 10q24.32 (155911348: 155897807)     Exons: 7     NC_000001.11
• Gene summary(Entrez): 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 home
• OMIM: 607803

Protein Summary

• Protein general information: Q9H8M5  
  • Name: Metal transporter CNNM2 (Ancient conserved domain containing protein 2) (Cyclin M2)
  • Length: 875  
  • Mass: 96623
  • 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. {ECO
• Sequence:

  MIGCGACEPKVKMAGGQAAAALPTWKMAARRSLSARGRGILQAAAGRLLPLLLLSCCCGAGGCAAVGENEETVII
  GLRLEDTNDVSFMEGGALRVSERTRVKLRVYGQNINNETWSRIAFTEHERRRHSPGERGLGGPAPPEPDSGPQRC
  GIRTSDIIILPHIILNRRTSGIIEIEIKPLRKMEKSKSYYLCTSLSTPALGAGGSGSTGGAVGGKGGSGVAGLPP
  PPWAETTWIYHDGEDTKMIVGEEKKFLLPFWLQVIFISLLLCLSGMFSGLNLGLMALDPMELRIVQNCGTEKEKN
  YAKRIEPVRRQGNYLLCSLLLGNVLVNTTLTILLDDIAGSGLVAVVVSTIGIVIFGEIVPQAICSRHGLAVGANT
  IFLTKFFMMMTFPASYPVSKLLDCVLGQEIGTVYNREKLLEMLRVTDPYNDLVKEELNIIQGALELRTKTVEDVM
  TPLRDCFMITGEAILDFNTMSEIMESGYTRIPVFEGERSNIVDLLFVKDLAFVDPDDCTPLKTITKFYNHPLHFV
  FNDTKLDAMLEEFKKGKSHLAIVQRVNNEGEGDPFYEVLGIVTLEDVIEEIIKSEILDETDLYTDNRTKKKVAHR
  ERKQDFSAFKQTDSEMKVKISPQLLLAMHRFLATEVEAFSPSQMSEKILLRLLKHPNVIQELKYDEKNKKAPEYY
  LYQRNKPVDYFVLILQGKVEVEAGKEGMKFEASAFSYYGVMALTASPVPLSLSRTFVVSRTELLAAGSPGENKSP
  PRPCGLNHSDSLSRSDRIDAVTPTLGSSNNQLNSSLLQVYIPDYSVRALSDLQFVKISRQQYQNALMASRMDKTP
  QSSDSENTKIELTLTELHDGLPDETANLLNEQNCVTHSKANHSLHNEGAI

• Structural information:
  • Protein Domains: (251..43-)
    (/note="CNNM-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01193-)
    (450..51-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (518..58-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:P-)
  • Interpro: IPR000644  IPR002550  
  • Prosite: PS51371 PS51846
  • PDB: 4IY0 4IY2 4IY4 4IYS 6DJ3 6N7E
  • PDBsum: 4IY0 4IY2 4IY4 4IYS 6DJ3 6N7E
  • STRING: ENSP00000358894
• Other Databases: GeneCards:  CNNM2  Malacards:  CNNM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0010960	magnesium ion homeostasis	IBA	biological process
GO:0015095	magnesium ion transmembrane transporter activity	IBA	molecular function
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016323	basolateral plasma membrane	IMP	cellular component
GO:0010960	magnesium ion homeostasis	IMP	biological process
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0015693	magnesium ion transport	IEA	biological process
GO:0015095	magnesium ion transmembrane transporter activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:1903830	magnesium ion transmembrane transport	IEA	biological process
GO:1903830	magnesium ion transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	IEA	biological process

Diseases

Associated diseases	References
Hypomagnesemia	KEGG:H01210
Symptomatic generalized epilepsies	KEGG:H00577
Hypomagnesemia	KEGG:H01210
Symptomatic generalized epilepsies	KEGG:H00577
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq