Details for: AMBN

Gene ID: 258

Symbol: AMBN

Ensembl ID: ENSG00000178522

Description: ameloblastin

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: erythrocyte (CL0000232)
    Fold Change: 10.86
    Marker Score: 6014
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 5.07
    Marker Score: 2880
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 3.78
    Marker Score: 1990
  • Cell Name: retinal cone cell (CL0000573)
    Fold Change: 2.91
    Marker Score: 8358
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 2.22
    Marker Score: 928
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.48
    Marker Score: 170215
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 1.43
    Marker Score: 947
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1
    Marker Score: 370
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71823
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48048
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.98
    Marker Score: 2478
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5351
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5291
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.86
    Marker Score: 965
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.8
    Marker Score: 465
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1268
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 711
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 399
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.75
    Marker Score: 1561
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.69
    Marker Score: 1102
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.65
    Marker Score: 1237
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.62
    Marker Score: 495
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.57
    Marker Score: 1169
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 279
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.43
    Marker Score: 258
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.41
    Marker Score: 6340
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.38
    Marker Score: 199
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.3
    Marker Score: 121.5
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.28
    Marker Score: 210.5
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.27
    Marker Score: 122
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 0.27
    Marker Score: 268
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.25
    Marker Score: 2490
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.23
    Marker Score: 134
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.2
    Marker Score: 95
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.19
    Marker Score: 61
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.19
    Marker Score: 100
  • Cell Name: B cell (CL0000236)
    Fold Change: 0.18
    Marker Score: 173
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.17
    Marker Score: 2210
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.16
    Marker Score: 73
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.16
    Marker Score: 125
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.15
    Marker Score: 55
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.15
    Marker Score: 260.5
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.15
    Marker Score: 167
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.15
    Marker Score: 144
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.14
    Marker Score: 327
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 0.14
    Marker Score: 55
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.13
    Marker Score: 116
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.11
    Marker Score: 27.5
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.11
    Marker Score: 27.5
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.1
    Marker Score: 25.5
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1
    Marker Score: 222
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.1
    Marker Score: 27.5
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.1
    Marker Score: 29
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 0.1
    Marker Score: 39
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 0.09
    Marker Score: 256
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.09
    Marker Score: 326
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.09
    Marker Score: 42
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.09
    Marker Score: 33
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.08
    Marker Score: 26
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.08
    Marker Score: 30
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.08
    Marker Score: 54
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.08
    Marker Score: 53
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.08
    Marker Score: 39
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.08
    Marker Score: 335
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.08
    Marker Score: 84
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.08
    Marker Score: 91.5
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.08
    Marker Score: 55
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 0.08
    Marker Score: 27.5
  • Cell Name: progenitor cell (CL0011026)
    Fold Change: 0.07
    Marker Score: 476
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.07
    Marker Score: 24.5
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.07
    Marker Score: 77.5
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.07
    Marker Score: 416
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.07
    Marker Score: 70
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 0.07
    Marker Score: 27.5
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.07
    Marker Score: 17
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.06
    Marker Score: 18.5
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.06
    Marker Score: 36
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.06
    Marker Score: 74
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 0.06
    Marker Score: 235
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.06
    Marker Score: 102
  • Cell Name: mature NK T cell (CL0000814)
    Fold Change: 0.06
    Marker Score: 26.5
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 0.06
    Marker Score: 23.5
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.06
    Marker Score: 18
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.05
    Marker Score: 25
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.05
    Marker Score: 17
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.05
    Marker Score: 19
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.05
    Marker Score: 70
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 0.05
    Marker Score: 45
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.05
    Marker Score: 26
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: 0.05
    Marker Score: 145
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.05
    Marker Score: 20.5
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 0.05
    Marker Score: 27.5
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.05
    Marker Score: 1082
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.05
    Marker Score: 67
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: 0.05
    Marker Score: 32

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Other Information

**Key characteristics** * AMBN is a transmembrane protein with a molecular weight of approximately 130 kDa. * It is found in the extracellular matrix of tissues such as teeth, bone, and cartilage. * AMBN is a key component of dentin, the tissue that makes up the teeth and bones. * It is also expressed in other tissues, including the blood, eyes, and skin. **Pathways and functions** * AMBN is involved in the regulation of cell population proliferation and differentiation. * It is a key factor in the development of tooth enamel, which is the hard, protective outer layer of teeth. * AMBN is also involved in cell adhesion, extracellular matrix remodeling, and signaling pathways. * It plays a role in the regulation of insulin-like growth factor (IGF) transport and uptake by IGF-binding proteins (IGFBPs). * AMBN is also involved in the regulation of cell migration and differentiation. **Clinical significance** AMBN mutations have been linked to several human diseases, including ameloblastic dwarfism and dentinogenesis imperfecta. These disorders are characterized by abnormalities in tooth development and function. **Conclusion** AMBN is a critical protein for the development and function of tissues in the body, including teeth. Its mutations can lead to a variety of diseases, highlighting its important role in human health.

Genular Protein ID: 397126073

Symbol: AMBN_HUMAN

Name: Ameloblastin

UniProtKB Accession Codes:

Q9NP70 Q3B862 Q9H2X1 Q9H4L1

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 DisProt 1 EMBL 13 Ensembl 2 ExpressionAtlas 1 GO 8 GeneCards 1 GeneTree 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 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 1 SAM 1 SMART 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 11054529

Title: Cloning and characterization of the human ameloblastin gene.

PubMed ID: 11054529

DOI: 10.1016/s0378-1119(00)00379-6

PubMed ID: 10946765

Title: Cloning, characterization and immunolocalization of human ameloblastin.

PubMed ID: 10946765

DOI: 10.1034/j.1600-0722.2000.108004303.x

PubMed ID: 11330937

Title: Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients.

PubMed ID: 11330937

DOI: 10.1034/j.1600-0722.2001.00979.x

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: 24858907

Title: Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

PubMed ID: 24858907

DOI: 10.1093/hmg/ddu247

Sequence Information:

  • Length: 447
  • Mass: 48283
  • Checksum: D5CAFAA76B55758C
  • Sequence:
    • MSASKIPLFK MKDLILILCL LEMSFAVPFF PQQSGTPGMA SLSLETMRQL GSLQRLNTLS 
QYSRYGFGKS FNSLWMHGLL PPHSSLPWMR PREHETQQYE YSLPVHPPPL PSQPSLKPQQ 
PGLKPFLQSA AATTNQATAL KEALQPPIHL GHLPLQEGEL PLVQQQVAPS DKPPKPELPG 
VDFADPQGPS LPGMDFPDPQ GPSLPGLDFA DPQGSTIFQI ARLISHGPMP QNKQSPLYPG 
MLYVPFGANQ LNAPARLGIM SSEEVAGGRE DPMAYGAMFP GFGGMRPGFE GMPHNPAMGG 
DFTLEFDSPV AATKGPENEE GGAQGSPMPE ANPDNLENPA FLTELEPAPH AGLLALPKDD 
IPGLPRSPSG KMKGLPSVTP AAADPLMTPE LADVYRTYDA DMTTSVDFQE EATMDTTMAP 
NSLQTSMPGN KAQEPEMMHD AWHFQEP

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.