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Aliases for CNNM4 Gene

Aliases for CNNM4 Gene

  • Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4 2 3 5
  • Ancient Conserved Domain-Containing Protein 4 3 4
  • Cyclin-M4 3 4
  • ACDP4 3 4
  • Ancient Conserved Domain Protein 4 3
  • Metal Transporter CNNM4 3
  • Cyclin M4 2
  • KIAA1592 4

External Ids for CNNM4 Gene

Previous HGNC Symbols for CNNM4 Gene

  • ACDP4

Previous GeneCards Identifiers for CNNM4 Gene

  • GC02P095298
  • GC02P095882
  • GC02P096894
  • GC02P096911
  • GC02P096848
  • GC02P097426
  • GC02P091387

Summaries for CNNM4 Gene

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 And CBS Domain Divalent Metal Cation Transport Mediator 4) is a Protein Coding gene. Diseases associated with CNNM4 include Jalili Syndrome and Cone-Rod Dystrophy. GO annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM2.

UniProtKB/Swiss-Prot for CNNM4 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNNM4 Gene

Genomics for CNNM4 Gene

Regulatory Elements for CNNM4 Gene

Enhancers for CNNM4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F096727 0.3 FANTOM5 13.1 -33.3 -33256 0.2 CNNM4 ARID5A KANSL3 TMEM127 LMAN2L GC02M096702
GH02F096733 0.6 ENCODE 12.3 -26.6 -26551 1.1 LMAN2L CNNM4 SNRNP200 GC02M096702
GH02F096802 0.9 Ensembl ENCODE 12.2 +41.5 41549 0.6 HDGF CTCF ETS2 EGR1 POLR2A TSC22D4 FOXA1 LMAN2L CNNM4 MIR3127 PIR40637
GH02F096800 0.8 Ensembl ENCODE 12.2 +40.3 40256 1.7 HDGF ELF3 ARID4B SIN3A YBX1 ZNF48 ZSCAN9 ZNF2 RAD21 GLIS2 LMAN2L CNNM4 SEMA4C MIR3127 PIR40637
GH02F096810 0.8 ENCODE 11.7 +50.5 50541 2.4 ELF3 HDAC1 PKNOX1 DMAP1 THRB ZSCAN9 RAD21 GATA2 THAP11 ZEB2 LMAN2L CNNM4 ZAP70 LOC100506036 PIR40637
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CNNM4 on UCSC Golden Path with GeneCards custom track

Promoters for CNNM4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001544469 98 1201 HDGF PKNOX1 MLX WRNIP1 ZFP64 ARID4B FEZF1 ZNF48 BRCA1 YY1

Genomic Location for CNNM4 Gene

Chromosome:
2
Start:
96,760,902 bp from pter
End:
96,811,891 bp from pter
Size:
50,990 bases
Orientation:
Plus strand

Genomic View for CNNM4 Gene

Genes around CNNM4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNNM4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNNM4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNNM4 Gene

Proteins for CNNM4 Gene

  • Protein details for CNNM4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P4Q7-CNNM4_HUMAN
    Recommended name:
    Metal transporter CNNM4
    Protein Accession:
    Q6P4Q7
    Secondary Accessions:
    • B7Z1U0
    • C7SQM3
    • C7SQM4
    • C7SQM5
    • Q53RE5
    • Q9H9G3
    • Q9HCI0
    • Q9NRN1

    Protein attributes for CNNM4 Gene

    Size:
    775 amino acids
    Molecular mass:
    86607 Da
    Quaternary structure:
    • Interacts with COX11.
    Miscellaneous:
    • Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no cyclin-like function in vivo.
    SequenceCaution:
    • Sequence=AAF86370.1; Type=Frameshift; Positions=108, 120; Evidence={ECO:0000305}; Sequence=AAY14963.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14266.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CNNM4 Gene

    Alternative splice isoforms for CNNM4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CNNM4 Gene

Post-translational modifications for CNNM4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CNNM4 Gene

No data available for DME Specific Peptides for CNNM4 Gene

Domains & Families for CNNM4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P4Q7

UniProtKB/Swiss-Prot:

CNNM4_HUMAN :
  • Contains 2 CBS domains.
  • Belongs to the ACDP family.
Domain:
  • Contains 2 CBS domains.
  • Contains 1 DUF21 domain.
Family:
  • Belongs to the ACDP family.
genes like me logo Genes that share domains with CNNM4: view

No data available for Gene Families for CNNM4 Gene

Function for CNNM4 Gene

Molecular function for CNNM4 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for CNNM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015081 sodium ion transmembrane transporter activity IEA --
GO:0015095 magnesium ion transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with CNNM4: view
genes like me logo Genes that share phenotypes with CNNM4: view

Human Phenotype Ontology for CNNM4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CNNM4 Gene

MGI Knock Outs for CNNM4:

Animal Model Products

miRNA for CNNM4 Gene

miRTarBase miRNAs that target CNNM4

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CNNM4 Gene

Localization for CNNM4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNNM4 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNNM4 Gene COMPARTMENTS Subcellular localization image for CNNM4 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNNM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
genes like me logo Genes that share ontologies with CNNM4: view

Pathways & Interactions for CNNM4 Gene

SuperPathways for CNNM4 Gene

No Data Available

Pathways by source for CNNM4 Gene

1 GeneTex pathway for CNNM4 Gene

Interacting Proteins for CNNM4 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000366275%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000304697%0d%0a9606.ENSP00000344909%0d%0a9606.ENSP00000257570%0d%0a9606.ENSP00000366249%0d%0a
Selected Interacting proteins: ENSP00000366275 Q6P4Q7-CNNM4_HUMAN for CNNM4 Gene via STRING IID

Gene Ontology (GO) - Biological Process for CNNM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0007601 visual perception IEA --
GO:0010960 magnesium ion homeostasis IEA --
GO:0015693 magnesium ion transport IEA --
genes like me logo Genes that share ontologies with CNNM4: view

No data available for SIGNOR curated interactions for CNNM4 Gene

Transcripts for CNNM4 Gene

Unigene Clusters for CNNM4 Gene

Cyclin M4:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CNNM4 Gene

No ASD Table

Relevant External Links for CNNM4 Gene

GeneLoc Exon Structure for
CNNM4
ECgene alternative splicing isoforms for
CNNM4

Expression for CNNM4 Gene

mRNA expression in normal human tissues for CNNM4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNNM4 Gene

This gene is overexpressed in Colon - Transverse (x4.6).

Protein differential expression in normal tissues from HIPED for CNNM4 Gene

This gene is overexpressed in Breast (22.7), Stomach (15.6), and Retina (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CNNM4 Gene



Protein tissue co-expression partners for CNNM4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CNNM4 Gene:

CNNM4

SOURCE GeneReport for Unigene cluster for CNNM4 Gene:

Hs.175043

mRNA Expression by UniProt/SwissProt for CNNM4 Gene:

Q6P4Q7-CNNM4_HUMAN
Tissue specificity: Widely expressed. Highly expressed in heart.
genes like me logo Genes that share expression patterns with CNNM4: view

Primer Products

Orthologs for CNNM4 Gene

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

Orthologs for CNNM4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNNM4 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNNM4 34 35
  • 90.33 (n)
cow
(Bos Taurus)
Mammalia CNNM4 34 35
  • 87.75 (n)
rat
(Rattus norvegicus)
Mammalia Cnnm4 34
  • 87.68 (n)
mouse
(Mus musculus)
Mammalia Cnnm4 34 16 35
  • 87.1 (n)
oppossum
(Monodelphis domestica)
Mammalia CNNM4 35
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNNM4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC425706 34
  • 72.32 (n)
CNNM4 35
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 66 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cnnm2 34
  • 66.9 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100329789 34
  • 67.9 (n)
CNNM4 35
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta uex 35
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C33D12.2 36
  • 46 (a)
C52D10.12 36
  • 34 (a)
R04E5.2 36
  • 34 (a)
C01H6.6 35
  • 25 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAM3 35
  • 24 (a)
OneToMany
Species where no ortholog for CNNM4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNNM4 Gene

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

Paralogs for CNNM4 Gene

Paralogs for CNNM4 Gene

(4) SIMAP similar genes for CNNM4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with CNNM4: view

Variants for CNNM4 Gene

Sequence variations from dbSNP and Humsavar for CNNM4 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs74552543 Jalili syndrome (JALIS) [MIM:217080], Pathogenic 96,761,970(+) GCTCC(C/T)GGACT reference, missense
rs75267011 Jalili syndrome (JALIS) [MIM:217080], Pathogenic 96,761,706(+) CATCC(A/G)GCGCA reference, missense
rs79424354 Jalili syndrome (JALIS) [MIM:217080], Pathogenic 96,761,598(+) ATTTT(A/C)TGGCC reference, missense
VAR_035946 A breast cancer sample
VAR_058319 Jalili syndrome (JALIS) [MIM:217080]

Structural Variations from Database of Genomic Variants (DGV) for CNNM4 Gene

Variant ID Type Subtype PubMed ID
dgv607e201 CNV deletion 23290073
esv2677477 CNV deletion 23128226
esv2720413 CNV deletion 23290073
esv2720414 CNV deletion 23290073
esv3365153 CNV duplication 20981092
esv3387574 CNV duplication 20981092
esv3425717 CNV duplication 20981092
esv3591693 CNV loss 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259
nsv526313 CNV loss 19592680
nsv834307 CNV loss 17160897

Variation tolerance for CNNM4 Gene

Residual Variation Intolerance Score: 3.07% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.33; 26.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CNNM4 Gene

Human Gene Mutation Database (HGMD)
CNNM4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNNM4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNNM4 Gene

Disorders for CNNM4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CNNM4 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
jalili syndrome
  • cone-rod dystrophy amelogenesis imperfecta
cone-rod dystrophy
  • cone-rod dystrophy 5
urofacial syndrome 1
  • urofacial syndrome
achromatopsia
  • achromatopsia 2
- elite association - COSMIC cancer census association via MalaCards
Search CNNM4 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CNNM4_HUMAN
  • Jalili syndrome (JALIS) [MIM:217080]: A syndrome characterized by the association of cone-rod dystrophy and amelogenesis imperfecta. {ECO:0000269 PubMed:19200525, ECO:0000269 PubMed:19200527}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CNNM4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CNNM4
genes like me logo Genes that share disorders with CNNM4: view

No data available for Genatlas for CNNM4 Gene

Publications for CNNM4 Gene

  1. Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. (PMID: 24194943) Luder H.U. … Schorderet D.F. (PLoS ONE 2013) 2 3 64
  2. Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. (PMID: 21393841) GA^mez GarcA-a I. … MartA-nez-Cruz L.A. (Acta Crystallogr. Sect. F Struct. Biol. Cryst. Commun. 2011) 2 3 64
  3. Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal- recessive cone-rod dystrophy and amelogenesis imperfecta. (PMID: 19200525) Parry D.A. … Inglehearn C.F. (Am. J. Hum. Genet. 2009) 3 4 64
  4. Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (PMID: 19200527) Polok B. … Schorderet D.F. (Am. J. Hum. Genet. 2009) 3 4 64
  5. 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. (PMID: 15840172) Guo D. … Wang C.-Y. (Mol. Pain 2005) 3 4 64

Products for CNNM4 Gene

Sources for CNNM4 Gene

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