Details for: AMELX

Gene ID: 265

Symbol: AMELX

Ensembl ID: ENSG00000125363

Description: amelogenin X-linked

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: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: 2.4956
    Cell Significance Index: 23.3500
  • Cell Name: CD14-positive monocyte (CL0001054)
    Fold Change: 0.7281
    Cell Significance Index: 14.2400
  • Cell Name: cytotoxic T cell (CL0000910)
    Fold Change: 0.3019
    Cell Significance Index: 4.4000
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.1191
    Cell Significance Index: 1.7100
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.0935
    Cell Significance Index: 0.9100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0688
    Cell Significance Index: 1.4700
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.0516
    Cell Significance Index: 0.4900
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.0414
    Cell Significance Index: 0.5400
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.0316
    Cell Significance Index: 0.4000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0251
    Cell Significance Index: 0.2600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0145
    Cell Significance Index: 1.6900
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 0.0114
    Cell Significance Index: 0.1600
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0109
    Cell Significance Index: 0.5500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0084
    Cell Significance Index: 0.2300
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.0021
    Cell Significance Index: 0.0200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0009
    Cell Significance Index: 1.3200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0002
    Cell Significance Index: 0.3300
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.0000
    Cell Significance Index: 0.0000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0004
    Cell Significance Index: -0.6500
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0005
    Cell Significance Index: -0.0100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0009
    Cell Significance Index: -1.1600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0010
    Cell Significance Index: -0.7400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0013
    Cell Significance Index: -0.7400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0015
    Cell Significance Index: -0.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0017
    Cell Significance Index: -0.7900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0021
    Cell Significance Index: -0.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0027
    Cell Significance Index: -0.5500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0028
    Cell Significance Index: -0.1200
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.0030
    Cell Significance Index: -0.0500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0042
    Cell Significance Index: -0.7600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0048
    Cell Significance Index: -0.5000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0061
    Cell Significance Index: -0.8800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0068
    Cell Significance Index: -0.8400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0073
    Cell Significance Index: -0.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0090
    Cell Significance Index: -0.6900
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.0115
    Cell Significance Index: -0.3400
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: -0.0119
    Cell Significance Index: -0.1400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0119
    Cell Significance Index: -0.8000
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: -0.0130
    Cell Significance Index: -0.1700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0150
    Cell Significance Index: -0.8400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0168
    Cell Significance Index: -0.5500
  • Cell Name: microglial cell (CL0000129)
    Fold Change: -0.0170
    Cell Significance Index: -0.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0170
    Cell Significance Index: -0.7500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0177
    Cell Significance Index: -0.9200
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: -0.0180
    Cell Significance Index: -0.2300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.0180
    Cell Significance Index: -0.2400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0183
    Cell Significance Index: -0.6400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0188
    Cell Significance Index: -0.6000
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.0211
    Cell Significance Index: -0.8000
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0236
    Cell Significance Index: -0.5700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.0253
    Cell Significance Index: -0.8000
  • Cell Name: stromal cell (CL0000499)
    Fold Change: -0.0254
    Cell Significance Index: -0.2600
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.0259
    Cell Significance Index: -0.3500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0287
    Cell Significance Index: -0.6100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0296
    Cell Significance Index: -0.6400
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.0299
    Cell Significance Index: -0.6300
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.0300
    Cell Significance Index: -0.4100
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0301
    Cell Significance Index: -0.7500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0303
    Cell Significance Index: -0.8700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.0305
    Cell Significance Index: -0.8700
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.0306
    Cell Significance Index: -0.4500
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: -0.0309
    Cell Significance Index: -0.3900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0319
    Cell Significance Index: -0.6400
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0321
    Cell Significance Index: -0.6400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0326
    Cell Significance Index: -0.8700
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.0329
    Cell Significance Index: -0.6500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.0340
    Cell Significance Index: -0.3700
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0341
    Cell Significance Index: -0.5700
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.0341
    Cell Significance Index: -0.8700
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: -0.0349
    Cell Significance Index: -0.3500
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.0351
    Cell Significance Index: -0.6900
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0360
    Cell Significance Index: -0.4800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.0372
    Cell Significance Index: -0.9000
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: -0.0391
    Cell Significance Index: -0.5200
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0401
    Cell Significance Index: -0.6000
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0403
    Cell Significance Index: -0.4700
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0411
    Cell Significance Index: -0.7100
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.0421
    Cell Significance Index: -0.7200
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: -0.0421
    Cell Significance Index: -0.5500
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.0423
    Cell Significance Index: -0.6300
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.0435
    Cell Significance Index: -0.7100
  • Cell Name: mural cell (CL0008034)
    Fold Change: -0.0452
    Cell Significance Index: -0.5500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0454
    Cell Significance Index: -0.9500
  • Cell Name: glial cell (CL0000125)
    Fold Change: -0.0461
    Cell Significance Index: -0.5100
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.0471
    Cell Significance Index: -1.1500
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.0474
    Cell Significance Index: -0.6800
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: -0.0479
    Cell Significance Index: -0.5100
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: -0.0488
    Cell Significance Index: -0.5700
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.0499
    Cell Significance Index: -0.5500
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: -0.0508
    Cell Significance Index: -0.6100
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0512
    Cell Significance Index: -0.6900
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.0516
    Cell Significance Index: -0.6100
  • Cell Name: astrocyte (CL0000127)
    Fold Change: -0.0520
    Cell Significance Index: -0.6000
  • Cell Name: retinal bipolar neuron (CL0000748)
    Fold Change: -0.0528
    Cell Significance Index: -0.6400
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: -0.0532
    Cell Significance Index: -0.7300
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: -0.0534
    Cell Significance Index: -0.6200
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0539
    Cell Significance Index: -1.3800
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: -0.0541
    Cell Significance Index: -0.6800
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: -0.0542
    Cell Significance Index: -0.6600

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:** 1. **X-linked inheritance**: The AMELX gene is located on the X chromosome, making it a sex-linked gene. This means that mutations in the AMELX gene are more likely to affect males, who have only one X chromosome, than females, who have two X chromosomes. 2. **Amelogenin protein**: The AMELX gene encodes for the amelogenin X isoform, a protein that plays a critical role in tooth enamel formation. 3. **Highly expressed in tooth development**: The AMELX gene is highly expressed in tooth development, particularly in ameloblasts, cells responsible for producing and secreting amelogenin. 4. **Regulation of cell adhesion and differentiation**: AMELX has been shown to regulate cell adhesion and differentiation, particularly in epithelial cells. **Pathways and Functions:** 1. **Amelogenesis and tooth mineralization**: AMELX plays a crucial role in the formation and mineralization of tooth enamel. The amelogenin X isoform interacts with other proteins to form a complex that regulates the deposition of minerals, leading to the hardening of tooth enamel. 2. **Cell adhesion and differentiation**: AMELX regulates cell adhesion and differentiation, particularly in epithelial cells. This involves the interaction with other proteins, such as integrins and cadherins, to facilitate cell-cell adhesion and migration. 3. **Signaling pathways**: AMELX has been implicated in various signaling pathways, including the Wnt/β-catenin pathway, which regulates cell proliferation and differentiation. 4. **Regulation of protein metabolism**: AMELX regulates protein metabolism, particularly in the context of tooth development. The amelogenin X isoform interacts with other proteins to regulate the degradation and synthesis of proteins involved in tooth enamel formation. **Clinical Significance:** 1. **Amelogenesis imperfecta**: Mutations in the AMELX gene have been associated with amelogenesis imperfecta, a disorder characterized by defective tooth enamel formation. 2. **Tooth decay and sensitivity**: Abnormalities in the AMELX gene have also been linked to tooth decay and sensitivity, as the defective tooth enamel is more susceptible to decay and sensitivity. 3. **Other diseases**: AMELX has been implicated in other diseases, including cancer, where it regulates cell adhesion and differentiation. 4. **Cancer therapy**: The AMELX gene has been identified as a potential target for cancer therapy, as it regulates cell adhesion and differentiation, which are critical processes in cancer progression. In conclusion, the AMELX gene plays a critical role in tooth development and mineralization, and its dysregulation has been implicated in various diseases, including amelogenesis imperfecta, tooth decay, and cancer. Further research is needed to fully understand the mechanisms by which AMELX regulates cellular processes and to develop novel therapeutic strategies targeting this gene.

Genular Protein ID: 74626928

Symbol: AMELX_HUMAN

Name: Amelogenin, X isoform

UniProtKB Accession Codes:

Q99217 Q96NW6 Q9UCA7

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 8 Ensembl 3 GO 25 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 2 RefSeq 3 SMART 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 1734713

Title: The human enamel protein gene amelogenin is expressed from both the X and the Y chromosomes.

PubMed ID: 1734713

PubMed ID: 11922868

Title: A nomenclature for X-linked amelogenesis imperfecta.

PubMed ID: 11922868

DOI: 10.1016/s0003-9969(02)00005-5

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

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: 2509010

Title: Human amelogenins: sequences of 'TRAP' molecules.

PubMed ID: 2509010

DOI: 10.1007/bf02556044

PubMed ID: 8118759

Title: Production of a monoclonal antibody against human amelogenin.

PubMed ID: 8118759

DOI: 10.1007/bf00316294

PubMed ID: 2004775

Title: A human X-Y homologous region encodes 'amelogenin'.

PubMed ID: 2004775

DOI: 10.1016/0888-7543(91)90251-9

PubMed ID: 8254123

Title: Amino acid sequence of a major human amelogenin protein employing Edman degradation and cDNA sequencing.

PubMed ID: 8254123

DOI: 10.1177/00220345930720120601

PubMed ID: 25789606

Title: A secretory kinase complex regulates extracellular protein phosphorylation.

PubMed ID: 25789606

DOI: 10.7554/elife.06120

PubMed ID: 7782077

Title: Amelogenin signal peptide mutation: correlation between mutations in the amelogenin gene (AMGX) and manifestations of X-linked amelogenesis imperfecta.

PubMed ID: 7782077

DOI: 10.1016/0888-7543(95)80097-6

PubMed ID: 7599636

Title: Characterisation of molecular defects in X-linked amelogenesis imperfecta (AIH1).

PubMed ID: 7599636

DOI: 10.1002/humu.1380050310

PubMed ID: 10669095

Title: Mutational analysis of X-linked amelogenesis imperfecta in multiple families.

PubMed ID: 10669095

DOI: 10.1016/s0003-9969(99)00106-5

PubMed ID: 9188994

Title: An amelogenin gene defect associated with human X-linked amelogenesis imperfecta.

PubMed ID: 9188994

DOI: 10.1016/s0003-9969(96)00099-4

PubMed ID: 15111628

Title: Amelogenin p.M1T and p.W4S mutations underlying hypoplastic X-linked amelogenesis imperfecta.

PubMed ID: 15111628

DOI: 10.1177/154405910408300505

Sequence Information:

  • Length: 191
  • Mass: 21603
  • Checksum: 322C88DA3F7155DC
  • Sequence:
    • MGTWILFACL LGAAFAMPLP PHPGHPGYIN FSYEVLTPLK WYQSIRPPYP SYGYEPMGGW 
LHHQIIPVLS QQHPPTHTLQ PHHHIPVVPA QQPVIPQQPM MPVPGQHSMT PIQHHQPNLP 
PPAQQPYQPQ PVQPQPHQPM QPQPPVHPMQ PLPPQPPLPP MFPMQPLPPM LPDLTLEAWP 
STDKTKREEV D

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.