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CNNM4 Gene

protein-coding   GIFtS: 55
GCID: GC02P097426

Cyclin M4


(Previous symbol: ACDP4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cyclin M41 2     cyclin-M42
ACDP41 2 3 5     Metal Transporter CNNM42
Ancient Conserved Domain-Containing Protein 42 3     Cyclin-M43
Ancient Conserved Domain Protein 42     KIAA15923

External Ids:    HGNC: 1051   Entrez Gene: 265042   Ensembl: ENSG000001581587   OMIM: 6078055   UniProtKB: Q6P4Q73   

Export aliases for CNNM4 gene to outside databases

Previous GC identifers: GC02P095298 GC02P095882 GC02P096894 GC02P096911 GC02P096848 GC02P096790 GC02P091387


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CNNM4 Gene:
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. Mutations in this gene are associated with Jalili syndrome which consists of
cone-rod dystrophy and amelogenesis imperfecta. (provided by RefSeq, Feb 2010)

GeneCards Summary for CNNM4 Gene:
CNNM4 (cyclin M4) is a protein-coding gene. Diseases associated with CNNM4 include cone-rod dystrophy amelogenesis imperfecta, and cone-rod dystrophy. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM1.

UniProtKB/Swiss-Prot: CNNM4_HUMAN, Q6P4Q7
Function: Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play
a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNNM4 gene promoter:
         COUP-TF1   RP58   AML1a   HTF   COUP   HNF-4alpha2   HNF-4alpha1   N-Myc   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNNM4 promoter sequence
   Search Chromatin IP Primers for CNNM4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNNM4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q11   Ensembl cytogenetic band:  2q11.2   HGNC cytogenetic band: 2q11.2

CNNM4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNNM4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P097426:  view genomic region     (about GC identifiers)

Start:
97,426,639 bp from pter      End:
97,477,628 bp from pter
Size:
50,990 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CNNM4_HUMAN, Q6P4Q7 (See protein sequence)
Recommended Name: Metal transporter CNNM4  
Size: 775 amino acids; 86607 Da
Subunit: Interacts with COX11
Miscellaneous: Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no
cyclin-like function in vivo
Sequence caution: Sequence=AAF86370.1; Type=Frameshift; Positions=108, 120; Sequence=AAY14963.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB14266.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: Q53RE5 Q9H9G3 Q9HCI0 Q9NRN1

Explore the universe of human proteins at neXtProt for CNNM4: NX_Q6P4Q7

Explore proteomics data for CNNM4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn85, Asn122, Asn127
  • Modification sites at PhosphoSitePlus

  • See CNNM4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_064569.3  
    ENSEMBL proteins: 
     ENSP00000366275   ENSP00000444806  

    CNNM4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for CNNM4
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    Novus Biologicals CNNM4 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CNNM4

    CNNM4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for CNNM4
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    CNNM4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CNNM4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CNNM4
    Cloud-Clone Corp. CLIAs for CNNM4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR000644 CBS_dom
     IPR018490 cNMP-bd-like
     IPR000595 cNMP-bd_dom
     IPR002550 DUF21
     IPR014710 RmlC-like_jellyroll

    Graphical View of Domain Structure for InterPro Entry Q6P4Q7

    ProtoNet protein and cluster: Q6P4Q7

    3 Blocks protein domains:
    IPB000595 Cyclic nucleotide-binding domain
    IPB000644 CBS domain
    IPB002550 CBS


    UniProtKB/Swiss-Prot: CNNM4_HUMAN, Q6P4Q7
    Similarity: Belongs to the ACDP family
    Similarity: Contains 2 CBS domains
    Similarity: Contains 1 DUF21 domain


    CNNM4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNNM4_HUMAN, Q6P4Q7
    Function: Probable metal transporter. The interaction with the metal ion chaperone COX11 suggests that it may play
    a role in sensory neuron functions (By similarity). May play a role in biomineralization and retinal function

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030554adenyl nucleotide binding IEA--
         
    CNNM4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNNM4:
     Decreased circadian period len 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNNM4
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNNM4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNNM4

    miRNA
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    miRTarBase miRNAs that target CNNM4:
    hsa-mir-98-5p (MIRT027523)

    Block miRNA regulation of human, mouse, rat CNNM4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNNM4 (see all 57):
    hsa-miR-2052 hsa-miR-142-5p hsa-miR-19b-2* hsa-miR-300 hsa-miR-24-1* hsa-miR-25 hsa-miR-1258 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCNNM4 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat CNNM4

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNNM4 (NM_020184)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNNM4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNNM4

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNNM4


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CNNM4_HUMAN, Q6P4Q7: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton1
    endoplasmic reticulum1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016021integral component of membrane IEA--

    CNNM4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNNM4
    Interactions:

        Search GeneGlobe Interaction Network for CNNM4

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for CNNM4 (Q6P4Q73 ENSP000003662754) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTP4A2Q129743, ENSP000003449094I2D: score=1 STRING: ENSP00000344909
    UBCENSP000003448184STRING: ENSP00000344818
    UBBENSP000003046974STRING: ENSP00000304697
    TPI1ENSP000003799334STRING: ENSP00000379933
    TPRENSP000003564484STRING: ENSP00000356448
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006811ion transport IEA--
    GO:0007601visual perception IEA--
    GO:0031214biomineral tissue development IEA--
    GO:0050896response to stimulus IEA--

    CNNM4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CNNM4



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CNNM4 gene: 
    NM_020184.3  

    Unigene Cluster for CNNM4:

    Cyclin M4
    Hs.175043  [show with all ESTs]
    Unigene Representative Sequence: BC063295
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377075(uc002swx.3) ENST00000482716 ENST00000496186 ENST00000493384
    ENST00000540067(uc010yuy.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat CNNM4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNNM4 (see all 57):
    hsa-miR-2052 hsa-miR-142-5p hsa-miR-19b-2* hsa-miR-300 hsa-miR-24-1* hsa-miR-25 hsa-miR-1258 hsa-miR-9
    SwitchGear 3'UTR luciferase reporter plasmidCNNM4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for CNNM4
    Predesigned siRNA for gene silencing in human, mouse, rat CNNM4
    Clone
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    OriGene clones in human, mouse for CNNM4 (see all 7)
    OriGene ORF clones in mouse, rat for CNNM4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: CNNM4 (NM_020184)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CNNM4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNNM4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for CNNM4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CNNM4
      QuantiTect SYBR Green Assays in human, mouse, rat CNNM4
      QuantiFast Probe-based Assays in human, mouse, rat CNNM4

    Additional mRNA sequence: 

    AB046812.1 AF202777.1 AK022833.1 AK095065.1 AK293915.1 AL833905.1 BC063295.1 

    4 DOTS entries:

    DT.440749  DT.99949719  DT.40195286  DT.92423031 

    Selected AceView cDNA sequences (see all 113):

    AL833905 AI086161 AI215435 AI082229 AA458941 BM770528 AA631999 R79035 
    AK095065 BC063295 CB306490 AA323653 BM770248 NM_020184 BM665620 BM770397 
    AI816846 AB046812 AW193818 AI190631 AI161073 BU728717 AI203318 AU124719 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CNNM4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGGTCCTTC
    CNNM4 Expression
    About this image

    CNNM4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNNM4 Protein Expression

    Genevestigator expression for CNNM4

    SOURCE GeneReport for Unigene cluster: Hs.175043

    UniProtKB/Swiss-Prot: CNNM4_HUMAN, Q6P4Q7
    Tissue specificity: Widely expressed. Highly expressed in heart

        Custom PCR Arrays for CNNM4
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNNM4

    (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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for CNNM4 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cnnm41 , 5 cyclin M41, 5 87.1(n)1
    89.52(a)1
      1 (15.28 cM)5
    942201  NM_033570.21  NP_291048.21 
     364716205 
    chicken
    (Gallus gallus)
    Aves LOC4257061 metal transporter CNNM4-like 72.32(n)
    72.32(a)
      425706  XM_003643431.2  XP_003643479.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    66(a)
    58(a)
    1 ↔ many
    1 ↔ many
    GL343484.1(529744-580868)
    GL343488.1(253793-265126)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cnnm21 cyclin M2 66.9(n)
    67.41(a)
      100036645  NM_001097203.1  NP_001090672.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1003297891 metal transporter CNNM4-like 67.9(n)
    69(a)
      100329789  XM_005155434.1  XP_005155491.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta uex6
    unextended
    39(a)
    1 → many
    2RHet(3136909-3181390)
    worm
    (Caenorhabditis elegans)
    Secernentea C33D12.23   -- 46(a)
    (best of 3)
      X(3077278-3081092)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MAM36
    Protein required for normal mitochondrial morpholo...
    24(a)
    1 → many
    XV(214017-216137) YOL060C


    ENSEMBL Gene Tree for CNNM4 (if available)
    TreeFam Gene Tree for CNNM4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNNM4 gene
    CNNM12  CNNM32  CNNM22  
    4 SIMAP similar genes for CNNM4 using alignment to 5 protein entries:     CNNM4_HUMAN (see all proteins):
    CNNM1    DKFZp434I1016    CNNM2    CNNM3

    CNNM4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CNNM4 (see all 893)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0583214
    Jalili syndrome (JALIS)4--see VAR_0583212 R Q mis40--------
    VAR_0359464
    A breast cancer sample4--see VAR_0359462 V L mis40--------
    VAR_0583224
    Jalili syndrome (JALIS)4--see VAR_0583222 L P mis40--------
    VAR_0583204
    Jalili syndrome (JALIS)4--see VAR_0583202 S Y mis40--------
    VAR_0583194
    Jalili syndrome (JALIS)4--see VAR_0583192 S P mis40--------
    rs794243541,2
    Cpathogenic197084977(+) ATTTTA/CTGGCC 2 Y S mis10--------
    rs752670111,2
    Cpathogenic197085085(+) CATCCA/GGCGCA 2 Q R mis10--------
    rs745525431,2
    Cpathogenic197085349(+) GCTCCC/TGGACT 2 P L mis10--------
    rs801009371,2
    Cpathogenic197122443(+) TCTCTC/TAGTTT 2 Q * stg10--------
    rs755593531,2
    Cpathogenic197132716(+) AGTACC/TAGAAC 2 Q * stg10--------

    HapMap Linkage Disequilibrium report for CNNM4 (97426639 - 97477628 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CNNM4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720414CNV Deletion23290073
    dgv650e201CNV Deletion23290073
    esv2720413CNV Deletion23290073
    esv2677477CNV Deletion23128226
    dgv4249n71CNV Loss21882294
    nsv874680CNV Loss21882294
    nsv526313CNV Loss19592680
    nsv874677CNV Loss21882294
    nsv834307CNV Loss17160897
    esv5003CNV Complex18987735

    Human Gene Mutation Database (HGMD): CNNM4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNNM4
    DNA2.0 Custom Variant and Variant Library Synthesis for CNNM4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607805   
    OMIM disorders: 217080  
    UniProtKB/Swiss-Prot: CNNM4_HUMAN, Q6P4Q7
  • Jalili syndrome (JALIS) [MIM:217080]: A syndrome characterized by the association of cone-rod dystrophy
    and amelogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for CNNM4:    About MalaCards
    cone-rod dystrophy amelogenesis imperfecta    cone-rod dystrophy    amelogenesis imperfecta    achromatopsia
    neurofibromatosis    bipolar disorder    breast and colorectal cancer    retinitis
    tuberculosis    multiple myeloma    myeloma    colorectal cancer
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for CNNM4:
    cone-rod dystrophy     Amelogenesis imperfecta

    CNNM4 for disorders           About GeneDecksing


    Export disorders for CNNM4 gene to outside databases

    (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)
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    PubMed articles for CNNM4 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with CNNM4)
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    1. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (PubMed id 19200527)1, 2 Polok B....Schorderet D.F. (Am. J. Hum. Genet. 2009)
    2. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (PubMed id 19200525)1, 2 Parry D.A.... Inglehearn C.F. (Am. J. Hum. Genet. 2009)
    3. 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. (PubMed id 15840172)1, 2 Guo D.... Wang C.-Y. (Mol. Pain 2005)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. 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. (Gene 2003)
    6. 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. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    7. Membrane topology and intracellular processing of Cyclin M2 (CNNM2). (PubMed id 22399287)2 de Baaij J.H.... Hoenderop J.G. (J. Biol. Chem. 2012)
    8. Cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. (PubMed id 21728811)1 Zobor D....Kohl S. (Ophthalmic Genet. 2012)
    9. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. (PubMed id 21926972)1 (Nat. Genet. 2011)
    10. Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. (PubMed id 21393841)1 GA^mez GarcA-a I....MartA-nez-Cruz L.A. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 26504 HGNC: 105 AceView: CNNM4 Ensembl:ENSG00000158158 euGenes: HUgn26504
    ECgene: CNNM4 H-InvDB: CNNM4

    (According to HUGE)
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    HUGE: KIAA1592

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CNNM4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CNNM4 gene:
    Search GeneIP for patents involving CNNM4

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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