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Aliases for CNNM4 Gene

Aliases for CNNM4 Gene

  • Cyclin And CBS Domain Divalent Metal Cation Transport Mediator 4 2 3
  • ACDP4 3 4 6
  • Ancient Conserved Domain-Containing Protein 4 3 4
  • Cyclin M4 2 3
  • Cyclin-M4 3 4
  • Ancient Conserved Domain Protein 4 3
  • Metal Transporter CNNM4 3
  • 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 amelogenesis imperfecta. 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

Genomic Location for CNNM4 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for CNNM4 Gene at MOPED

Post-translational modifications for CNNM4 Gene

  • Glycosylation at Asn85, Asn122, and Asn127
  • Modification sites at PhosphoSitePlus

Other Protein References for CNNM4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNNM4 Gene

Domains for CNNM4 Gene

Graphical View of Domain Structure for InterPro Entry

Q6P4Q7

UniProtKB/Swiss-Prot:

CNNM4_HUMAN :
  • Q6P4Q7
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:0030554 adenyl nucleotide binding --
genes like me logo Genes that share ontologies with CNNM4: view

Phenotypes for CNNM4 Gene

GenomeRNAi human phenotypes for CNNM4:
genes like me logo Genes that share phenotypes with CNNM4: view

miRNA for CNNM4 Gene

miRTarBase miRNAs that target CNNM4

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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 5
cytoskeleton 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for CNNM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CNNM4: view

Pathways for CNNM4 Gene

SuperPathways for CNNM4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CNNM4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0007601 visual perception IEA --
GO:0031214 biomineral tissue development IEA --
GO:0050896 response to stimulus IEA --
genes like me logo Genes that share ontologies with CNNM4: view

No data available for Pathways by source for CNNM4 Gene

Transcripts for CNNM4 Gene

Unigene Clusters for CNNM4 Gene

Cyclin M4:
Representative Sequences:

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 differential expression in normal tissues according to GTEx for CNNM4 Gene

This gene is overexpressed in Colon - Transverse (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CNNM4 Gene

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 expressions with CNNM4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for CNNM4 Gene

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 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNNM4 35
  • 87.75 (n)
  • 89.33 (a)
CNNM4 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNNM4 35
  • 90.33 (n)
  • 92.65 (a)
CNNM4 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cnnm4 35
  • 87.1 (n)
  • 89.52 (a)
Cnnm4 16
Cnnm4 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNNM4 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNNM4 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cnnm4 35
  • 87.68 (n)
  • 90.46 (a)
chicken
(Gallus gallus)
Aves CNNM4 36
  • 70 (a)
OneToOne
LOC425706 35
  • 72.32 (n)
  • 72.32 (a)
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 66 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia cnnm2 35
  • 66.9 (n)
  • 67.41 (a)
zebrafish
(Danio rerio)
Actinopterygii CNNM4 36
  • 43 (a)
OneToOne
LOC100329789 35
  • 67.9 (n)
  • 69 (a)
fruit fly
(Drosophila melanogaster)
Insecta uex 36
  • 39 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C01H6.6 36
  • 25 (a)
OneToOne
C52D10.12 37
  • 34 (a)
R04E5.2 37
  • 34 (a)
C33D12.2 37
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MAM3 36
  • 24 (a)
OneToMany
Species with no ortholog for CNNM4:
  • 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

Selected 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 MAF
rs12846 -- 96,811,637(+) TTCCA(C/T)GTAAG utr-variant-3-prime
rs878064 -- 96,772,815(-) Atgtg(C/G)gggta intron-variant
rs878919 -- 96,772,253(+) gcgct(C/T)acaca intron-variant
rs908920 -- 96,770,672(-) GTTCA(C/T)GTGGG intron-variant
rs994430 -- 96,773,264(-) CAGTC(A/T)TCAAT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv650e201 CNV Deletion 23290073
esv5003 CNV Complex 18987735
nsv874677 CNV Loss 21882294
esv2720413 CNV Deletion 23290073
nsv874680 CNV Loss 21882294
nsv834307 CNV Loss 17160897
nsv526313 CNV Loss 19592680
dgv4249n71 CNV Loss 21882294
esv2720414 CNV Deletion 23290073
esv2677477 CNV Deletion 23128226

Relevant External Links for CNNM4 Gene

HapMap Linkage Disequilibrium report
CNNM4
Human Gene Mutation Database (HGMD)
CNNM4

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

Disorders for CNNM4 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CNNM4 Gene including...

Search for CNNM4 Gene in MalaCards »

(1) OMIM Diseases for CNNM4 Gene (607805)

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.

(2) University of Copenhagen DISEASES for CNNM4 Gene

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

Publications for CNNM4 Gene

  1. 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. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  2. Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP). (PMID: 12657465) Wang C.-Y. … She J.-X. (Gene 2003) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4
  4. 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
  5. 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

Products for CNNM4 Gene

Sources for CNNM4 Gene

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