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 3.4e-04
fibroadenoma 1.100 1.7e-02
invasive ductal carcinoma 1.200 4.9e-03
ulcerative colitis -1.100 1.0e-03
psoriasis 1.300 1.4e-73

 OMIM Phenotype (1)

Pathway (1)

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.
19200527 2009 Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
19200525 2009 Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
18711365 2008 Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
15840172 2005 Physical interaction and functional coupling between ACDP4 and the intracellular ion chaperone COX11, an implication of the role of ACDP4 in essential metal ion transport and homeostasis.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15173235 2004 An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12657465 2003 Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12461695 2002 Identification of a locus on chromosome 2q11 at which recessive amelogenesis imperfecta and cone-rod dystrophy cosegregate.
10997877 2000 Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
3236352 1988 A progressive cone-rod dystrophy and amelogenesis imperfecta: a new syndrome.