Details for: ENAM

Gene ID: 10117

Symbol: ENAM

Ensembl ID: ENSG00000132464

Description: enamelin

Associated with

Cells (max top 100)

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

  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 3.19
    Marker Score: 4,401
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.09
    Marker Score: 2,105
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1,170
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.42
    Marker Score: 1,420
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 854
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.17
    Marker Score: 487
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4,816
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 1.09
    Marker Score: 502
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,829
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48,054
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 508
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,409
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 462
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,413
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 0.94
    Marker Score: 598
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5,348
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.93
    Marker Score: 373
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,739
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.9
    Marker Score: 324
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,291
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: 0.81
    Marker Score: 795
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1,261
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.77
    Marker Score: 701
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.76
    Marker Score: 396
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.72
    Marker Score: 549
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.7
    Marker Score: 6,155
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.69
    Marker Score: 178
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.68
    Marker Score: 1,295
  • Cell Name: pulmonary ionocyte (CL0017000)
    Fold Change: 0.67
    Marker Score: 410
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9,663
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.61
    Marker Score: 1,242
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 0.57
    Marker Score: 694
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.57
    Marker Score: 255
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 444
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.55
    Marker Score: 147
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.55
    Marker Score: 231
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 173
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.53
    Marker Score: 340
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: 0.51
    Marker Score: 431
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.46
    Marker Score: 275
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.43
    Marker Score: 426
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.42
    Marker Score: 254
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.41
    Marker Score: 129
  • Cell Name: amacrine cell (CL0000561)
    Fold Change: 0.41
    Marker Score: 1,300
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.4
    Marker Score: 160
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.37
    Marker Score: 995
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.37
    Marker Score: 409
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.36
    Marker Score: 384
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.35
    Marker Score: 588
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.34
    Marker Score: 803
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.34
    Marker Score: 342
  • Cell Name: plasmacytoid dendritic cell, human (CL0001058)
    Fold Change: 0.33
    Marker Score: 86
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: 0.32
    Marker Score: 140
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.32
    Marker Score: 103
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.3
    Marker Score: 427
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.24
    Marker Score: 116
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.24
    Marker Score: 606
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.23
    Marker Score: 80
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.22
    Marker Score: 64
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.22
    Marker Score: 74
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.22
    Marker Score: 219
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.21
    Marker Score: 219
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 0.2
    Marker Score: 96
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.19
    Marker Score: 129
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.19
    Marker Score: 95
  • Cell Name: PP cell (CL0000696)
    Fold Change: 0.19
    Marker Score: 42
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 0.18
    Marker Score: 344
  • Cell Name: ionocyte (CL0005006)
    Fold Change: 0.17
    Marker Score: 53
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 0.17
    Marker Score: 181
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.17
    Marker Score: 184
  • Cell Name: granulocyte (CL0000094)
    Fold Change: 0.17
    Marker Score: 77
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.17
    Marker Score: 43
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.16
    Marker Score: 73
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.16
    Marker Score: 152
  • Cell Name: erythroid lineage cell (CL0000764)
    Fold Change: 0.16
    Marker Score: 79
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.15
    Marker Score: 38
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.15
    Marker Score: 134
  • Cell Name: IgM plasma cell (CL0000986)
    Fold Change: 0.14
    Marker Score: 48
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.14
    Marker Score: 151
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 0.13
    Marker Score: 31
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.13
    Marker Score: 463
  • Cell Name: renal intercalated cell (CL0005010)
    Fold Change: 0.13
    Marker Score: 69
  • Cell Name: kidney loop of Henle epithelial cell (CL1000909)
    Fold Change: 0.12
    Marker Score: 78
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.12
    Marker Score: 118
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.12
    Marker Score: 161
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.12
    Marker Score: 64
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 0.12
    Marker Score: 31
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.11
    Marker Score: 64
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 0.11
    Marker Score: 702
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 0.1
    Marker Score: 21
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 0.1
    Marker Score: 57
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.1
    Marker Score: 106
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.1
    Marker Score: 83
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 0.1
    Marker Score: 113
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.09
    Marker Score: 35
  • Cell Name: IgG plasma cell (CL0000985)
    Fold Change: 0.09
    Marker Score: 41
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.09
    Marker Score: 160
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.09
    Marker Score: 61
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.09
    Marker Score: 328

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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:** 1. **Expression pattern:** ENAM is expressed in a variety of cell types, including double negative thymocytes, blood vessel endothelial cells, colon goblet cells, and intestinal epithelial cells. 2. **Protein structure:** Enamelin is a small, secreted protein consisting of 32 amino acids, with a characteristic 3D structure that allows it to interact with other proteins and lipids. 3. **Function:** Enamelin is involved in the regulation of enamel mineralization, protein binding, and post-translational protein modification. **Pathways and Functions:** 1. **Ameloblast differentiation:** ENAM is essential for the differentiation of ameloblasts, the cells responsible for tooth enamel formation. 2. **Amelogenesis:** Enamelin regulates the mineralization of tooth enamel, ensuring the proper formation of this hard tissue. 3. **Biomineral tissue development:** ENAM is involved in the development of biomineral tissues, including tooth enamel and bone. 4. **Endoplasmic reticulum lumen:** Enamelin interacts with proteins and lipids in the endoplasmic reticulum lumen, influencing protein synthesis and secretion. 5. **Protein binding:** ENAM binds to various proteins, including insulin-like growth factor (IGF) binding proteins (IGFBPs), regulating their transport and uptake. 6. **Post-translational protein modification:** Enamelin is involved in post-translational protein modification, including phosphorylation and protein binding. **Clinical Significance:** 1. **Tooth enamel defects:** Mutations in the ENAM gene have been associated with tooth enamel defects, including hypoplastic enamel and enamel hypoplasia. 2. **Dental caries:** ENAM has been implicated in the development of dental caries, as impaired enamel mineralization can lead to increased susceptibility to caries. 3. **Oral health:** ENAM is also involved in the regulation of oral health, influencing the development and maintenance of other oral tissues, including the periodontium. 4. **Systemic diseases:** Recent studies have suggested that ENAM may also play a role in the development of systemic diseases, including diabetes and cardiovascular disease. In conclusion, the ENAM gene is a critical regulator of tooth enamel development and maintenance, with implications for oral health and systemic disease. Further research is needed to fully elucidate the functions of ENAM and its role in human health and disease.

Genular Protein ID: 4102300501

Symbol: ENAM_HUMAN

Name: Enamelin

UniProtKB Accession Codes:

Q9NRM1 Q17RI5 Q9H3D1

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 6 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 Reactome 2 RefSeq 2 SAM 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 18245370

Title: Dietary change and adaptive evolution of enamelin in humans and among primates.

PubMed ID: 18245370

DOI: 10.1534/genetics.107.077123

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: 11037750

Title: Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus.

PubMed ID: 11037750

DOI: 10.1034/j.1600-0722.2000.108005353.x

PubMed ID: 11487571

Title: Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta.

PubMed ID: 11487571

DOI: 10.1093/hmg/10.16.1673

PubMed ID: 11978766

Title: A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

PubMed ID: 11978766

DOI: 10.1093/hmg/11.9.1069

PubMed ID: 14684688

Title: Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects.

PubMed ID: 14684688

DOI: 10.1136/jmg.40.12.900

PubMed ID: 25789606

Title: A secretory kinase complex regulates extracellular protein phosphorylation.

PubMed ID: 25789606

DOI: 10.7554/elife.06120

PubMed ID: 20439930

Title: Altered enamelin phosphorylation site causes amelogenesis imperfecta.

PubMed ID: 20439930

DOI: 10.1177/0022034510365662

Sequence Information:

  • Length: 1142
  • Mass: 128785
  • Checksum: 28274A71BE947EB1
  • Sequence:
    • MLVLRCRLGT SFPKLDNLVP KGKMKILLVF LGLLGNSVAM PMHMPRMPGF SSKSEEMMRY 
NQFNFMNGPH MAHLGPFFGN GLPQQFPQYQ MPMWPQPPPN TWHPRKSSAP KRHNKTDQTQ 
ETQKPNQTQS KKPPQKRPLK QPSHNQPQPE EEAQPPQAFP PFGNGLFPYQ QPPWQIPQRL 
PPPGYGRPPI SNEEGGNPYF GYFGYHGFGG RPPYYSEEMF EQDFEKPKEE DPPKAESPGT 
EPTANSTVTE TNSTQPNPKG SQGGNDTSPT GNSTPGLNTG NNPPAQNGIG PLPAVNASGQ 
GGPGSQIPWR PSQPNIRENH PYPNIRNFPS GRQWYFTGTV MGHRQNRPFY RNQQVQRGPR 
WNFFAWERKQ VARPGNPVYH KAYPPTSRGN YPNYAGNPAN LRRKPQGPNK HPVGTTVAPL 
GPKPGPVVRN EKIQNPKEKP LGPKEQIIVP TKNPTSPWRN SQQYEVNKSN YKLPHSEGYM 
PVPNFNSVDQ HENSYYPRGD SRKVPNSDGQ TQSQNLPKGI VLGSRRMPYE SETNQSELKH 
SSYQPAVYPE EIPSPAKEHF PAGRNTWDHQ EISPPFKEDP GRQEEHLPHP SHGSRGSVFY 
PEYNPYDPRE NSPYLRGNTW DERDDSPNTM GQKESPLYPI NTPDQKEIVP YNEEDPVDPT 
GDEVFPGQNR WGEELSFKGG PTVRHYEGEQ YTSNQPKEYL PYSLDNPSKP REDFYYSEFY 
PWSPDENFPS YNTASTMPPP IESRGYYVNN AAGPEESTLF PSRNSWDHRI QAQGQRERRP 
YFNRNIWDQA THLQKAPARP PDQKGNQPYY SNTPAGLQKN PIWHEGENLN YGMQITRMNS 
PEREHSSFPN FIPPSYPSGQ KEAHLFHLSQ RGSCCAGSST GPKDNPLALQ DYTPSYGLAP 
GENQDTSPLY TDGSHTKQTR DIISPTSILP GQRNSSEKRE SQNPFRDDVS TLRRNTPCSI 
KNQLGQKEIM PFPEASSLQS KNTPCLKNDL GGDGNNILEQ VFEDNQLNER TVDLTPEQLV 
IGTPDEGSNP EGIQSQVQEN ESERQQQRPS NILHLPCFGS KLAKHHSSTT GTPSSDGRQS 
PFDGDSITPT ENPNTLVELA TEEQFKSINV DPLDADEHSP FEFLQRGTNV QDQVQDCLLL 
QA

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.