Details for: CNNM4

Gene ID: 26504

Symbol: CNNM4

Ensembl ID: ENSG00000158158

Description: cyclin and CBS domain divalent metal cation transport mediator 4

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 105.4356
    Cell Significance Index: -16.4000
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 64.5789
    Cell Significance Index: -16.3800
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 33.4763
    Cell Significance Index: -13.6000
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 14.2342
    Cell Significance Index: -13.5900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.3744
    Cell Significance Index: -16.4900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.4206
    Cell Significance Index: -17.2000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.3389
    Cell Significance Index: 445.1100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.2069
    Cell Significance Index: -4.8300
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 2.0009
    Cell Significance Index: 126.1100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 1.4454
    Cell Significance Index: 17.2300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.1229
    Cell Significance Index: 15.3200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.0729
    Cell Significance Index: 8.2700
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.9675
    Cell Significance Index: 27.8800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.9000
    Cell Significance Index: 97.8900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.8702
    Cell Significance Index: 141.5300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.7471
    Cell Significance Index: 44.8500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7048
    Cell Significance Index: 15.2700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6933
    Cell Significance Index: 626.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6104
    Cell Significance Index: 122.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.5750
    Cell Significance Index: 29.8700
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.5110
    Cell Significance Index: 11.1900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5026
    Cell Significance Index: 49.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4833
    Cell Significance Index: 33.4300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4711
    Cell Significance Index: 12.1100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4455
    Cell Significance Index: 6.3800
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3734
    Cell Significance Index: 74.1100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3508
    Cell Significance Index: 8.7700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.3230
    Cell Significance Index: 4.8400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.3052
    Cell Significance Index: 55.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.3040
    Cell Significance Index: 23.3300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2976
    Cell Significance Index: 106.7500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2775
    Cell Significance Index: 9.7500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2337
    Cell Significance Index: 6.5300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1940
    Cell Significance Index: 23.8600
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1749
    Cell Significance Index: 120.9900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.1672
    Cell Significance Index: 3.5600
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 0.1619
    Cell Significance Index: 1.7200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1590
    Cell Significance Index: 18.1500
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1537
    Cell Significance Index: 6.9700
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.1208
    Cell Significance Index: 6.2900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.1091
    Cell Significance Index: 6.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1081
    Cell Significance Index: 59.0100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0824
    Cell Significance Index: 1.7100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0794
    Cell Significance Index: 4.8800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0665
    Cell Significance Index: 2.9400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0569
    Cell Significance Index: 25.1500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0527
    Cell Significance Index: 6.7500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0517
    Cell Significance Index: 2.4100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0434
    Cell Significance Index: 7.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0413
    Cell Significance Index: 1.5700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0412
    Cell Significance Index: 2.7700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0216
    Cell Significance Index: 0.3700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0174
    Cell Significance Index: 7.9000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0119
    Cell Significance Index: 1.7300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0100
    Cell Significance Index: 18.9100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0094
    Cell Significance Index: 0.2500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0062
    Cell Significance Index: 9.5100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0028
    Cell Significance Index: 5.1700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0027
    Cell Significance Index: -3.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0061
    Cell Significance Index: -4.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0067
    Cell Significance Index: -4.2600
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0079
    Cell Significance Index: -0.1300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0106
    Cell Significance Index: -6.6500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0172
    Cell Significance Index: -12.6100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0173
    Cell Significance Index: -9.7600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0203
    Cell Significance Index: -15.4000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0234
    Cell Significance Index: -0.7500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0313
    Cell Significance Index: -6.6000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0391
    Cell Significance Index: -5.3800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0443
    Cell Significance Index: -12.7500
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0538
    Cell Significance Index: -6.2700
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0779
    Cell Significance Index: -8.9300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0809
    Cell Significance Index: -9.5500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0847
    Cell Significance Index: -3.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0860
    Cell Significance Index: -11.1100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1002
    Cell Significance Index: -2.6900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1068
    Cell Significance Index: -10.9100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.1135
    Cell Significance Index: -1.0500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.1205
    Cell Significance Index: -3.2800
  • Cell Name: large intestine goblet cell (CL1000320)
    Fold Change: -0.1209
    Cell Significance Index: -1.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1406
    Cell Significance Index: -10.4800
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1466
    Cell Significance Index: -15.2600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1513
    Cell Significance Index: -10.7000
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.1537
    Cell Significance Index: -3.7500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1919
    Cell Significance Index: -15.2000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1939
    Cell Significance Index: -11.8900
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.1947
    Cell Significance Index: -2.3600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.2023
    Cell Significance Index: -13.0500
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2218
    Cell Significance Index: -5.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2221
    Cell Significance Index: -11.6600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.2366
    Cell Significance Index: -3.5700
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.2654
    Cell Significance Index: -1.7300
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2767
    Cell Significance Index: -5.4000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2879
    Cell Significance Index: -4.2500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3039
    Cell Significance Index: -9.6800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3079
    Cell Significance Index: -10.0800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3134
    Cell Significance Index: -7.2400
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3183
    Cell Significance Index: -3.3000
  • Cell Name: melanocyte of skin (CL1000458)
    Fold Change: -0.3310
    Cell Significance Index: -4.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3314
    Cell Significance Index: -11.6100

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** CNNM4 is a transmembrane protein with a unique combination of cyclin and CBS domains, which confer its ability to transport divalent metal ions across cellular membranes. The protein's structure and function are characterized by its high affinity for magnesium (Mg2+) ions, making it a crucial regulator of Mg2+ homeostasis within cells. CNNM4 exhibits a broad tissue distribution, with significant expression in mural cells, cardiac muscle myoblasts, and various epithelial cells, including those of the colon and eye. **Pathways and Functions:** The functional repertoire of CNNM4 is multifaceted, with key roles in maintaining ion homeostasis in various cellular compartments. The protein's ability to transport Mg2+ ions is critical for the proper functioning of numerous cellular processes, including: 1. **Magnesium ion homeostasis:** CNNM4 helps regulate Mg2+ levels within cells, which is essential for various cellular functions, including enzyme activity, protein synthesis, and cell signaling. 2. **Enamel mineralization:** CNNM4 has been implicated in the regulation of Mg2+ levels during enamel mineralization, a process critical for tooth development. 3. **Visual perception:** The protein's expression in GABAergic interneurons of the cerebral cortex and photoreceptor cells of the eye suggests a role in maintaining ion homeostasis in the visual system. 4. **Intracellular monoatomic cation homeostasis:** CNNM4 may also contribute to the regulation of other divalent metal ions, such as calcium (Ca2+) and zinc (Zn2+), within cells. **Clinical Significance:** Dysregulation of CNNM4 has been implicated in various human diseases, including: 1. **Tooth enamel defects:** Mutations in the CNNM4 gene have been associated with enamel hypoplasia, a condition characterized by defective tooth enamel formation. 2. **Visual impairment:** Abnormalities in CNNM4 expression or function may contribute to visual disorders, such as photoreceptor degeneration. 3. **Cardiac arrhythmias:** Alterations in CNNM4-mediated Mg2+ homeostasis may contribute to the development of cardiac arrhythmias. In conclusion, CNNM4 is a multifunctional protein with a critical role in maintaining ion homeostasis in various cellular compartments. Further research is necessary to fully elucidate the mechanisms underlying CNNM4-mediated functions and to explore the clinical implications of its dysregulation in human disease.

Genular Protein ID: 4060781160

Symbol: CNNM4_HUMAN

Name: Metal transporter CNNM4

UniProtKB Accession Codes:

Q6P4Q7 B7Z1U0 C7SQM3 C7SQM4 C7SQM5 Q53RE5 Q9H9G3 Q9HCI0 Q9NRN1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 GO 10 Gene3D 2 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 8 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 1 SASBDB 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15815621

Title: Generation and annotation of the DNA sequences of human chromosomes 2 and 4.

PubMed ID: 15815621

DOI: 10.1038/nature03466

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 19200527

Title: Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

PubMed ID: 19200527

DOI: 10.1016/j.ajhg.2009.01.006

PubMed ID: 12657465

Title: Molecular cloning and characterization of a novel gene family of four ancient conserved domain proteins (ACDP).

PubMed ID: 12657465

DOI: 10.1016/s0378-1119(02)01210-6

PubMed ID: 10997877

Title: 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

DOI: 10.1093/dnares/7.4.271

PubMed ID: 15840172

Title: 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

DOI: 10.1186/1744-8069-1-15

PubMed ID: 22399287

Title: Membrane topology and intracellular processing of Cyclin M2 (CNNM2).

PubMed ID: 22399287

DOI: 10.1074/jbc.m112.342204

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 19200525

Title: Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.

PubMed ID: 19200525

DOI: 10.1016/j.ajhg.2009.01.009

Sequence Information:

  • Length: 775
  • Mass: 86607
  • Checksum: D159303834A9416C
  • Sequence:
    • MAPVGGGGRP VGGPARGRLL LAAPVLLVLL WALGARGQGS PQQGTIVGMR LASCNKSCGT 
NPDGIIFVSE GSTVNLRLYG YSLGNISSNL ISFTEVDDAE TLHKSTSCLE LTKDLVVQQL 
VNVSRGNTSG VLVVLTKFLR RSESMKLYAL CTRAQPDGPW LKWTDKDSLL FMVEEPGRFL 
PLWLHILLIT VLLVLSGIFS GLNLGLMALD PMELRIVQNC GTEKERRYAR KIEPIRRKGN 
YLLCSLLLGN VLVNTSLTIL LDNLIGSGLM AVASSTIGIV IFGEILPQAL CSRHGLAVGA 
NTILLTKFFM LLTFPLSFPI SKLLDFFLGQ EIRTVYNREK LMEMLKVTEP YNDLVKEELN 
MIQGALELRT KTVEDIMTQL QDCFMIRSDA ILDFNTMSEI MESGYTRIPV FEDEQSNIVD 
ILYVKDLAFV DPDDCTPLKT ITRFYNHPVH FVFHDTKLDA MLEEFKKGKS HLAIVQKVNN 
EGEGDPFYEV LGLVTLEDVI EEIIKSEILD ESDMYTDNRS RKRVSEKNKR DFSAFKDADN 
ELKVKISPQL LLAAHRFLAT EVSQFSPSLI SEKILLRLLK YPDVIQELKF DEHNKYYARH 
YLYTRNKPAD YFILILQGKV EVEAGKENMK FETGAFSYYG TMALTSVPSD RSPAHPTPLS 
RSASLSYPDR TDVSTAATLA GSSNQFGSSV LGQYISDFSV RALVDLQYIK ITRQQYQNGL 
LASRMENSPQ FPIDGCTTHM ENLAEKSELP VVDETTTLLN ERNSLLHKAS HENAI

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.