• Gene id: 26504

Gene Summary

• Gene Symbol: CNNM4   Gene   UCSC   Ensembl
• Aliases: ACDP4
• Gene name: cyclin and CBS domain divalent metal cation transport mediator 4
• Alternate names: metal transporter CNNM4, ancient conserved domain protein 4, ancient conserved domain-containing protein 4, cyclin-M4,
• Gene location: 2q11.2 (96760901: 96811887)     Exons: 11     NC_000002.12
• 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 a role in metal ion transport. Muta
• OMIM: 607805

Protein Summary

• Protein general information: Q6P4Q7  
  • Name: Metal transporter CNNM4 (Ancient conserved domain containing protein 4) (Cyclin M4)
  • Length: 775  
  • Mass: 86607
  • Tissue specificity: Widely expressed. Highly expressed in heart. {ECO
• Sequence:

  MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGTNPDGIIFVSEGSTVN
  LRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQLVNVSRGNTSGVLVVLTKFLRRSESMKLYAL
  CTRAQPDGPWLKWTDKDSLLFMVEEPGRFLPLWLHILLITVLLVLSGIFSGLNLGLMALDPMELRIVQNCGTEKE
  RRYARKIEPIRRKGNYLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIVIFGEILPQALCSRHGLAVGA
  NTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEPYNDLVKEELNMIQGALELRTKTVED
  IMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVDILYVKDLAFVDPDDCTPLKTITRFYNHPVH
  FVFHDTKLDAMLEEFKKGKSHLAIVQKVNNEGEGDPFYEVLGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVS
  EKNKRDFSAFKDADNELKVKISPQLLLAAHRFLATEVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARH
  YLYTRNKPADYFILILQGKVEVEAGKENMKFETGAFSYYGTMALTSVPSDRSPAHPTPLSRSASLSYPDRTDVST
  AATLAGSSNQFGSSVLGQYISDFSVRALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGCTTHMENLAEKSELP
  VVDETTTLLNERNSLLHKASHENAI

• Structural information:
  • Protein Domains: (178..35-)
    (/note="CNNM-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01193-)
    (377..43-)
    (/note="CBS-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00703-)
    (445..51-)
    (/note="CBS-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:P-)
  • Interpro: IPR000644  IPR018490  IPR000595  IPR002550  
  • Prosite: PS51371 PS50042 PS51846
  • PDB: 4IY3 6G52
  • PDBsum: 4IY3 6G52
  • STRING: ENSP00000366275
• Other Databases: GeneCards:  CNNM4  Malacards:  CNNM4

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:0015081	sodium ion transmembrane transporter activity	IBA	molecular function
GO:0015693	magnesium ion transport	IBA	biological process
GO:0022857	transmembrane transporter activity	IBA	molecular function
GO:0031214	biomineral tissue development	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0015095	magnesium ion transmembrane transporter activity	IEA	molecular function
GO:0010960	magnesium ion homeostasis	IEA	biological process
GO:0070166	enamel mineralization	IEA	biological process
GO:0043025	neuronal cell body	IEA	cellular component
GO:0016323	basolateral plasma membrane	IEA	cellular component
GO:0015693	magnesium ion transport	IEA	biological process
GO:0015081	sodium ion transmembrane transporter activity	IEA	molecular function
GO:0030425	dendrite	IEA	cellular component
GO:0005886	plasma membrane	IEA	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
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0035725	sodium ion transmembrane transport	IEA	biological process
GO:0055065	metal ion homeostasis	IDA	biological process
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Jalili syndrome	KEGG:H01015
Jalili syndrome	KEGG:H01015
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq