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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. [pro... See more...
Aliases for CNNM4 Gene
Aliases for CNNM4 Gene
External Ids for CNNM4 Gene
- HGNC: 105
- Entrez Gene: 26504
- Ensembl: ENSG00000158158
- OMIM: 607805
- UniProtKB: Q6P4Q7
Previous HGNC Symbols for CNNM4 Gene
- ACDP4
Previous GeneCards Identifiers for CNNM4 Gene
- GC02P095298
- GC02P095882
- GC02P096894
- GC02P096911
- GC02P096848
- GC02P097426
- GC02P091387
Summaries 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 Inherited Retinal Disorder. Gene Ontology (GO) annotations related to this gene include adenyl nucleotide binding. An important paralog of this gene is CNNM2.
UniProtKB/Swiss-Prot Summary 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.
Additional gene information for CNNM4 Gene
- HGNC(105)
- Entrez Gene(26504)
- Ensembl(ENSG00000158158)
- OMIM(607805)
- UniProtKB(Q6P4Q7)
- Open Targets Platform(ENSG00000158158)
- Monarch Initiative
- Search for CNNM4 at DataMed
- Search for CNNM4 at HumanCyc
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNNM4 Gene
Genomics for CNNM4 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CNNM4 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNNM4 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNNM4
- Top Transcription factor binding sites by QIAGEN in the CNNM4 gene promoter:
-
- AML1a
- COUP
- COUP-TF
- COUP-TF1
- HNF-4alpha1
- HNF-4alpha2
- HTF
- N-Myc
- RP58
Genomic Locations for CNNM4 Gene
Genomic Locations for CNNM4 Gene
- chr2:96,760,902-96,811,888
- (GRCh38/hg38)
- Size:
- 50,987 bases
- Orientation:
- Plus strand
- chr2:97,426,639-97,477,628
- (GRCh37/hg19)
- 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:
-
- 2q11.2 by HGNC
- 2q11.2 by Entrez Gene
- 2q11.2 by Ensembl
CNNM4 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
- SequenceCaution:
-
- Sequence=AAF86370.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAY14963.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14266.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
- Miscellaneous:
-
- Shares weak sequence similarity with the cyclin family, explaining its name. However, it has no cyclin-like function in vivo.
Protein Expression for CNNM4 Gene
Post-translational modifications for CNNM4 Gene
Other Protein References for CNNM4 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CNNM4
- Novus Biologicals Antibodies for CNNM4
-
Abcam antibodies for CNNM4
- Invitrogen Antibodies for CNNM4 (AFLGC-CNNM4)
Protein Products
-
OriGene Purified Proteins for CNNM4
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- Origene Custom Protein Services for CNNM4
- Novus Biologicals proteins for CNNM4
- antibodies-online: Show 7 available CNNM4 Proteins ranked by validation data
- Compare Top CNNM4 Proteins
-
Quality Products:
-
Abcam proteins for CNNM4
No data available for DME Specific Peptides for CNNM4 Gene
Domains & Families for CNNM4 Gene
Gene Families for CNNM4 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for CNNM4 Gene
- InterPro:
- Blocks:
-
- Cyclic nucleotide-binding domain
- CBS domain
- CBS
- ProtoNet:
Suggested Antigen Peptide Sequences for CNNM4 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ58754, highly similar to Homo sapiens cyclin M4 (CNNM4), mRNA (B7Z1U0_HUMAN)
- Truncated cyclin M4 (C7SQM3_HUMAN)
- Cyclin M4 (C7SQM4_HUMAN)
- Cyclin M4 (C7SQM5_HUMAN)
- Cyclin-M4 (CNNM4_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q6P4Q7- Family:
-
- Belongs to the ACDP family.
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.
Phenotypes From GWAS Catalog for CNNM4 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 15840172 |
| GO:0015081 | sodium ion transmembrane transporter activity | IEA,IBA | 21873635 |
| GO:0015095 | magnesium ion transmembrane transporter activity | IBA | 21873635 |
| GO:0022857 | transmembrane transporter activity | IBA | 21873635 |
Phenotypes for CNNM4 Gene
- MGI mutant phenotypes for CNNM4:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CNNM4:
Animal Models for CNNM4 Gene
- MGI Knock Outs for CNNM4:
-
- Cnnm4 Cnnm4<tm1a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNNM4 - Select products 50% OFF >
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-
OriGene CRISPR knockouts for CNNM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNNM4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNNM4
miRNA for CNNM4 Gene
- miRTarBase miRNAs that target CNNM4
-
- hsa-miR-98-5p (MIRT027523)
- hsa-miR-377-5p (MIRT304104)
- hsa-miR-3148 (MIRT304107)
- hsa-miR-3202 (MIRT304108)
- hsa-miR-4257 (MIRT304109)
- hsa-miR-4476 (MIRT304110)
- hsa-miR-4668-5p (MIRT304111)
- hsa-miR-5584-5p (MIRT304112)
- hsa-miR-6086 (MIRT304113)
- hsa-miR-6876-5p (MIRT304115)
- hsa-miR-7515 (MIRT304116)
- hsa-miR-876-3p (MIRT479069)
- hsa-miR-6508-3p (MIRT479070)
- hsa-miR-323a-5p (MIRT479071)
- hsa-miR-4726-5p (MIRT479072)
- hsa-miR-4640-5p (MIRT479073)
- hsa-miR-765 (MIRT479074)
- hsa-miR-6077 (MIRT479075)
- hsa-miR-4646-5p (MIRT479076)
- hsa-miR-7113-5p (MIRT479077)
- hsa-miR-6895-5p (MIRT479078)
- hsa-miR-9500 (MIRT479079)
- hsa-miR-4779 (MIRT479080)
- hsa-miR-575 (MIRT479081)
- hsa-miR-4676-5p (MIRT479082)
- hsa-miR-769-3p (MIRT479083)
- hsa-miR-450b-3p (MIRT479084)
- hsa-miR-4314 (MIRT479085)
- hsa-miR-1260b (MIRT479086)
- hsa-miR-1260a (MIRT479087)
- hsa-miR-638 (MIRT479088)
- hsa-miR-8085 (MIRT479089)
- hsa-miR-4713-3p (MIRT479090)
- hsa-miR-6731-5p (MIRT479091)
- hsa-miR-760 (MIRT479092)
- hsa-miR-766-5p (MIRT479093)
- hsa-miR-6506-5p (MIRT479094)
- hsa-miR-619-5p (MIRT479095)
- hsa-miR-3192-5p (MIRT479096)
- hsa-miR-204-3p (MIRT479097)
- hsa-miR-330-5p (MIRT479098)
- hsa-miR-326 (MIRT479099)
- hsa-miR-1203 (MIRT479100)
- hsa-miR-1224-3p (MIRT479101)
- hsa-miR-1306-5p (MIRT479102)
- hsa-miR-6760-5p (MIRT479103)
- hsa-miR-4325 (MIRT548749)
- hsa-miR-7703 (MIRT548750)
- hsa-miR-203a-3p (MIRT548751)
- hsa-miR-3914 (MIRT548752)
- hsa-miR-32-5p (MIRT548753)
- hsa-miR-92b-3p (MIRT548754)
- hsa-miR-25-3p (MIRT548755)
- hsa-miR-367-3p (MIRT548756)
- hsa-miR-92a-3p (MIRT548757)
- hsa-miR-363-3p (MIRT548758)
- hsa-miR-6748-5p (MIRT559892)
- hsa-miR-3190-3p (MIRT559893)
- hsa-miR-654-5p (MIRT559894)
- hsa-miR-541-3p (MIRT559895)
- hsa-miR-4483 (MIRT559896)
- hsa-miR-1293 (MIRT559897)
- hsa-miR-6756-5p (MIRT559898)
- hsa-miR-6766-5p (MIRT559899)
- hsa-miR-6745 (MIRT559900)
- hsa-miR-363-5p (MIRT559901)
- hsa-miR-7-5p (MIRT559902)
- hsa-miR-194-3p (MIRT559903)
- hsa-miR-3681-3p (MIRT559904)
- hsa-miR-216a-3p (MIRT559905)
- hsa-miR-128-3p (MIRT559906)
- hsa-miR-6881-3p (MIRT624314)
- hsa-miR-6780a-3p (MIRT624315)
- hsa-miR-7111-3p (MIRT624316)
- hsa-miR-3667-3p (MIRT624317)
- hsa-miR-877-3p (MIRT624318)
- hsa-miR-1247-3p (MIRT659442)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNNM4
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNNM4
Clone Products
- Applied Biological Materials (abm): Clones for CNNM4 - Select products 50% OFF >
- * CNNM4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CNNM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNNM4
Cell Line Products
-
Horizon Cell Lines for CNNM4
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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| cytoskeleton | 2 |
| endoplasmic reticulum | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| endosome | 1 |
| cytosol | 1 |
- Plasma membrane (3)
- Actin filaments (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | IBA | 21873635 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0016323 | basolateral plasma membrane | IEA | -- |
| GO:0030425 | dendrite | IEA | -- |
Pathways & Interactions for CNNM4 Gene
Pathways by source for CNNM4 Gene
1 GeneTex pathway for CNNM4 Gene
Interacting Proteins for CNNM4 Gene
GPS-Prot Interaction Network for CNNM4
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006810 | transport | IBA | 21873635 |
| GO:0006811 | ion transport | IEA | -- |
| GO:0007601 | visual perception | IEA | -- |
| GO:0010960 | magnesium ion homeostasis | IBA | 21873635 |
| GO:0015693 | magnesium ion transport | IEA,IBA | 21873635 |
No data available for SIGNOR curated interactions for CNNM4 Gene
Transcripts for CNNM4 Gene
mRNA/cDNA for CNNM4 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000377075 4783 nts (view in UCSC)
- ENST00000482716 547 nts (view in UCSC)
- ENST00000496186 748 nts (view in UCSC)
- ENST00000493384 589 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for CNNM4 - Select products 50% OFF >
- * CNNM4 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for CNNM4
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNNM4
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNNM4
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNNM4
- Browse OriGene Inhibitory RNA Products For CNNM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNNM4
Clone Products
- Applied Biological Materials (abm): Clones for CNNM4 - Select products 50% OFF >
- * CNNM4 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for CNNM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNNM4
Relevant External Links for CNNM4 Gene
- GeneLoc Exon Structure for
- CNNM4
Expression 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).
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, MaxQB, and MOPED for CNNM4 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNNM4
SOURCE GeneReport for Unigene cluster for CNNM4 Gene:
Hs.175043mRNA Expression by UniProt/SwissProt for CNNM4 Gene:
Q6P4Q7-CNNM4_HUMAN
Tissue specificity:
Widely expressed. Highly expressed in heart.
Evidence on tissue expression from TISSUES for CNNM4 Gene
- Nervous system(4.4)
- Intestine(2.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CNNM4 Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- nervous
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- eye
- eyelid
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
General:
- peripheral nervous system
Primer Products
-
OriGene qPCR primer pairs for CNNM4
Gene Expression Assay Products
Orthologs for CNNM4 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CNNM4 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CNNM4 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CNNM4 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cnnm4 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cnnm4 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CNNM4 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CNNM4 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | LOC425706 30 |
|
||
| CNNM4 31 |
|
OneToOne | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cnnm2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100329789 30 |
|
||
| CNNM4 31 |
|
OneToOne | |||
| Fruit Fly (Drosophila melanogaster) |
Insecta | uex 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | C33D12.2 32 |
|
|
|
| C52D10.12 32 |
|
|
|||
| R04E5.2 32 |
|
|
|||
| C01H6.6 31 |
|
OneToOne | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | MAM3 31 |
|
OneToMany |
- Species where no ortholog for CNNM4 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CNNM4: view image
Paralogs for CNNM4 Gene
Variants for CNNM4 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNNM4 Gene
| SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 627568 | Pathogenic: Jalili syndrome | 96,762,219(+) | G/T | MISSENSE_VARIANT | |
| 635490 | Pathogenic: Jalili syndrome | 96,762,305(+) | AC/A | FRAMESHIFT_VARIANT | |
| 721229 | Benign/Likely Benign: Jalili syndrome; not provided | 96,799,235(+) | G/A | INTRON_VARIANT | |
| 773838 | Benign/Likely Benign: Jalili syndrome; not provided | 96,797,070(+) | C/T | SYNONYMOUS_VARIANT | |
| 773839 | Likely Benign: Jalili syndrome; not provided | 96,797,150(+) | T/C | MISSENSE_VARIANT |
| 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 |
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)
Additional Variant Information for CNNM4 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CNNM4 Gene
Disorders for CNNM4 Gene
(13) MalaCards diseases for CNNM4 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| jalili syndrome |
|
|
| inherited retinal disorder |
|
|
| fundus dystrophy |
|
|
| amelogenesis imperfecta |
|
|
| trichodentoosseous syndrome |
|
|
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.
Additional Disease Information for CNNM4
No data available for Genatlas for CNNM4 Gene
Publications for CNNM4 Gene
- Dental phenotype in Jalili syndrome due to a c.1312 dupC homozygous mutation in the CNNM4 gene. (PMID: 24194943) Luder HU … Schorderet DF (PloS one 2013) 2 3
- Purification, crystallization and preliminary crystallographic analysis of the CBS pair of the human metal transporter CNNM4. (PMID: 21393841) Gómez García I … Martínez-Cruz LA (Acta crystallographica. Section F, Structural biology and crystallization communications 2011) 2 3
- Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. (PMID: 19200525) Parry DA … Inglehearn CF (American journal of human genetics 2009) 3 4
- Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. (PMID: 19200527) Polok B … Schorderet DF (American journal of human genetics 2009) 3 4
- 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 CY (Molecular pain 2005) 3 4
ExternalLinks
Products for CNNM4 Gene
- Custom Antibody ServicesOriGene Antibodies for CNNM4
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- Custom Assay Services
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- Search Origene for MassSpec and Protein Over-expression Lysates for CNNM4
- Origene Custom Protein Services for CNNM4
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNNM4
- Browse OriGene Inhibitory RNA Products For CNNM4
- OriGene qPCR primer pairs for CNNM4
- OriGene CRISPR knockouts for CNNM4
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CNNM4
- Sino Biological Human cDNA Clone for CNNM4
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- High-throughput Antibody Production Service
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- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CNNM4
- Novus Biologicals proteins for CNNM4
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- Abcam proteins for CNNM4
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- Invitrogen Antibodies for CNNM4 (AFLGC-CNNM4)
- VectorBuilder Custom and pre-made DNA vectors for CNNM4 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for CNNM4 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for CNNM4 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for CNNM4 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for CNNM4
- antibodies-online: Show 31 available CNNM4 Antibodies ranked by validation data
- Compare Top CNNM4 Antibodies
- antibodies-online: Search results for available CNNM4 related products ranked by validation data
- antibodies-online: Show 7 available CNNM4 Proteins ranked by validation data
- Compare Top CNNM4 Proteins
- Quality Products:
- Horizon Cell Lines for CNNM4
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNNM4
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNNM4
- Search GeneCopoeia for miRNA 3'UTR Target clone products for CNNM4
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNNM4
Sources for CNNM4 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB