Details for: AMELX

Gene ID: 265

Symbol: AMELX

Ensembl ID: ENSG00000125363

Description: amelogenin X-linked

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 8.24
    Marker Score: 53068
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 3.16
    Marker Score: 3180
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 1.08
    Marker Score: 2735
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71834
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48060
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.94
    Marker Score: 1532
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5356
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5295
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 713
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.78
    Marker Score: 403
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.66
    Marker Score: 528
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 283
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.28
    Marker Score: 575
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.25
    Marker Score: 510
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.2
    Marker Score: 373
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.15
    Marker Score: 72
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.13
    Marker Score: 146
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.13
    Marker Score: 81
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.12
    Marker Score: 72
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.11
    Marker Score: 54
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.1
    Marker Score: 57
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.08
    Marker Score: 1318
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.07
    Marker Score: 22.5
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.06
    Marker Score: 16.5
  • Cell Name: central nervous system macrophage (CL0000878)
    Fold Change: 0.06
    Marker Score: 29.5
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.05
    Marker Score: 21
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.05
    Marker Score: 86
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.04
    Marker Score: 52
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.04
    Marker Score: 14
  • Cell Name: ependymal cell (CL0000065)
    Fold Change: 0.04
    Marker Score: 15
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.04
    Marker Score: 16
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.04
    Marker Score: 15
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.04
    Marker Score: 13
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.04
    Marker Score: 93
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.04
    Marker Score: 14
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.04
    Marker Score: 213
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.04
    Marker Score: 16
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.03
    Marker Score: 35
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.03
    Marker Score: 141.5
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.03
    Marker Score: 26
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.03
    Marker Score: 22
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.03
    Marker Score: 17.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.03
    Marker Score: 17
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.03
    Marker Score: 9
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.03
    Marker Score: 15
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.03
    Marker Score: 24
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.03
    Marker Score: 22
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.02
    Marker Score: 29
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 0.02
    Marker Score: 13
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.02
    Marker Score: 14
  • Cell Name: pulmonary interstitial fibroblast (CL0002241)
    Fold Change: 0.02
    Marker Score: 16
  • Cell Name: nasal mucosa goblet cell (CL0002480)
    Fold Change: 0.02
    Marker Score: 12
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: epithelial cell of lung (CL0000082)
    Fold Change: 0.02
    Marker Score: 88
  • Cell Name: kidney collecting duct principal cell (CL1001431)
    Fold Change: 0.02
    Marker Score: 42
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.02
    Marker Score: 20
  • Cell Name: capillary endothelial cell (CL0002144)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.02
    Marker Score: 15
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.02
    Marker Score: 15
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.02
    Marker Score: 17
  • Cell Name: kidney loop of Henle thin descending limb epithelial cell (CL1001111)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: club cell (CL0000158)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.01
    Marker Score: 21
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.01
    Marker Score: 33
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.01
    Marker Score: 27
  • Cell Name: monocyte (CL0000576)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.01
    Marker Score: 12
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: endothelial cell of vascular tree (CL0002139)
    Fold Change: 0.01
    Marker Score: 16
  • Cell Name: basal cell (CL0000646)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: medullary thymic epithelial cell (CL0002365)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.01
    Marker Score: 41
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 0.01
    Marker Score: 25
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.01
    Marker Score: 10
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.01
    Marker Score: 13
  • Cell Name: respiratory basal cell (CL0002633)
    Fold Change: 0.01
    Marker Score: 12
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.01
    Marker Score: 15
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.01
    Marker Score: 28
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 0.01
    Marker Score: 9
  • Cell Name: kidney collecting duct intercalated cell (CL1001432)
    Fold Change: 0.01
    Marker Score: 12
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.01
    Marker Score: 12
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.01
    Marker Score: 17
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.01
    Marker Score: 28
  • Cell Name: Unknown (CL0000003)
    Fold Change: 0.01
    Marker Score: 21
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.01
    Marker Score: 14
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: 0.01
    Marker Score: 51
  • Cell Name: tracheal goblet cell (CL1000329)
    Fold Change: 0
    Marker Score: 14
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0
    Marker Score: 36

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Other Information

**Key characteristics:** - AMELX is a protein that is highly expressed in the developing tooth enamel. - It is also expressed in cells of the blood vessel endothelial cell, goblet cell, intestinal crypt stem cell of colon, cerebral cortex GABAergic interneuron, forebrain radial glial cell, and absorptive cell. - It is a transmembrane protein that is involved in the regulation of cell adhesion, migration, and differentiation. - AMELX is also involved in the metabolism of proteins and the response to nutrient and xenobiotic stimuli. **Pathways and functions:** - AMELX is involved in the development and maintenance of tooth enamel by regulating the expression of genes that are responsible for the formation of the enamel matrix. - It is also involved in the regulation of insulin-like growth factor (igf) transport and uptake by insulin-like growth factor binding proteins (igfbps). - AMELX is also involved in the response to nutrient and xenobiotic stimuli by regulating the expression of genes that are involved in the uptake of nutrients and the detoxification of toxins. **Clinical significance:** - Mutations in the AMELX gene have been linked to the development of several human diseases, including amelogenesis imperfecta, a genetic disorder that affects the structure of teeth and bones. - AMELX mutations can also lead to the development of other diseases, such as osteoporosis and cancer. - Research on the AMELX gene is ongoing, with the goal of developing new treatments for these diseases.

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 Genevisible 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 SAM 1 SMART 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 2 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. For the full schema, download it here.