Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.74
PubTator Score 13.70

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.300 0.000
fibroadenoma 1.100 0.017
invasive ductal carcinoma 1.200 0.005
ulcerative colitis -1.100 0.001
psoriasis 1.300 0.000

Synonym

Gene

PDB

4IY3  

Gene RIF (9)

PMID Text
25449265 CNNM4 is sorted to the basolateral membrane by the complementary function of AP-1A and AP-1B
25347473 these results indicate that CNNM4-dependent Mg(2+) efflux suppresses tumor progression by regulating energy metabolism.
24706765 Data indicate that a mutation in the cystathionine-beta-synthase (CBS) domains of ancient conserved domain protein 4/cyclin M4 CNNM4 completely abrogated their Mg2+ efflux functions.
24339795 These results demonstrate the crucial importance of Mg(2+) extrusion by CNNM4 in organismal and topical regulation of magnesium.
24194943 The c.1312 dupC mutation of CNNM4 leads to a premature termination of amelogenesis resulting in thin, incompletely mineralized enamel, whereas in dentin, only mineralization is disturbed.
21728811 Our case shows a unique combination of NF1 and Jalili syndrome; clinical examination, but also of molecular genetic analysis, which together provide a precise diagnosis.
21393841 This work describes the purification and preliminary crystallographic analysis of the CBS-pair regulatory domain of the human ancient domain protein 4 (ACDP4), also known as CNNM4.
19200527 Since CNNM4 is implicated in metal ion transport, cone-rod dystrophy and amelogenesis imperfecta may originate from abnormal ion homeostasis.
19200525 Identification of CNNM4 as the causative gene for Jalili syndrome, characterized by autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

AA Sequence

MAPVGGGGRPVGGPARGRLLLAAPVLLVLLWALGARGQGSPQQGTIVGMRLASCNKSCGTNPDGIIFVSE      1 - 70
GSTVNLRLYGYSLGNISSNLISFTEVDDAETLHKSTSCLELTKDLVVQQLVNVSRGNTSGVLVVLTKFLR     71 - 140
RSESMKLYALCTRAQPDGPWLKWTDKDSLLFMVEEPGRFLPLWLHILLITVLLVLSGIFSGLNLGLMALD    141 - 210
PMELRIVQNCGTEKERRYARKIEPIRRKGNYLLCSLLLGNVLVNTSLTILLDNLIGSGLMAVASSTIGIV    211 - 280
IFGEILPQALCSRHGLAVGANTILLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKLMEMLKVTEP    281 - 350
YNDLVKEELNMIQGALELRTKTVEDIMTQLQDCFMIRSDAILDFNTMSEIMESGYTRIPVFEDEQSNIVD    351 - 420
ILYVKDLAFVDPDDCTPLKTITRFYNHPVHFVFHDTKLDAMLEEFKKGKSHLAIVQKVNNEGEGDPFYEV    421 - 490
LGLVTLEDVIEEIIKSEILDESDMYTDNRSRKRVSEKNKRDFSAFKDADNELKVKISPQLLLAAHRFLAT    491 - 560
EVSQFSPSLISEKILLRLLKYPDVIQELKFDEHNKYYARHYLYTRNKPADYFILILQGKVEVEAGKENMK    561 - 630
FETGAFSYYGTMALTSVPSDRSPAHPTPLSRSASLSYPDRTDVSTAATLAGSSNQFGSSVLGQYISDFSV    631 - 700
RALVDLQYIKITRQQYQNGLLASRMENSPQFPIDGCTTHMENLAEKSELPVVDETTTLLNERNSLLHKAS    701 - 770
HENAI                                                                     771 - 775
//

Text Mined References (24)

PMID Year Title
25449265 2014 Basolateral sorting of the Mg²? transporter CNNM4 requires interaction with AP-1A and AP-1B.
25347473 2014 Membrane protein CNNM4-dependent Mg2+ efflux suppresses tumor progression.
24706765 2014 Mg2+-dependent interactions of ATP with the cystathionine-?-synthase (CBS) domains of a magnesium transporter.
24339795 2013 Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.
24194943 2013 Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22399287 2012 Membrane topology and intracellular processing of cyclin M2 (CNNM2).
21926972 2011 Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
21728811 2012 Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1.
21393841 2011 Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4.
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