Manteia - Molecule gene

ENSMUSG00000029286

Mus musculus

Features

Gene ID:	ENSMUSG00000029286

Biological name :	Enam

Synonyms :	Enam / Enamelin / O55196

Possible biological names infered from orthology :	Q9NRM1

Species:	Mus musculus

Chr. number:	5
Strand:	1
Band:	E1
Gene start:	88487975
Gene end:	88506049

Corresponding Affymetrix probe sets:	10522961 (MoGene1.0st) 1421699_at (Mouse Genome 430 2.0 Array) 1443769_at (Mouse Genome 430 2.0 Array)

Cross references:	Ensembl peptide - ENSMUSP00000142854 Ensembl peptide - ENSMUSP00000031222 NCBI entrez gene - 13801 See in Manteia. MGI - MGI:1333772 RefSeq - NM_017468 RefSeq Peptide - NP_059496 swissprot - A0A0G2JEP7 swissprot - O55196 swissprot - Q548P8 Ensembl - ENSMUSG00000029286

See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed

Ortholog prediction (from Ensembl)

Ortholog name	ID	Species
ENAM	ENSG00000132464	Homo sapiens

Paralog prediction (from Ensembl)

Paralog name

ID

Similarity(%)

No match

Protein motifs (from Interpro)

Interpro ID	Name
IPR015673	Enamelin

Gene Ontology (GO)

Type	GO ID	Term	Ev.Code
biological_process	GO:0022604	regulation of cell morphogenesis	IMP
biological_process	GO:0031214	biomineral tissue development	IEA
biological_process	GO:0036305	ameloblast differentiation	IMP
biological_process	GO:0042475	odontogenesis of dentin-containing tooth	IMP
biological_process	GO:0070175	positive regulation of enamel mineralization	IMP
biological_process	GO:0097186	amelogenesis	IMP
cellular_component	GO:0005576	extracellular region	IEA
molecular_function	GO:0030345	structural constituent of tooth enamel	IDA

Pathways (from Reactome)

Pathway description

Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)

Post-translational protein phosphorylation

Phenotype (from MGI, Zfin or HPO)

ID	Phenotype	Definition	Genetic BG
MP:0000063	reduced bone density	"decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0000122	accelerated tooth eruption	"early onset of the growth of the teeth out of the gums" [J:65045]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0000130	abnormal cancellous bone morphology	"structural anomaly of bone that has a latticelike or spongy structure" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0000208	decreased hematocrit	"less than the average percentage of a volume of a blood sample occupied by red blood cells" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0000452	abnormal mouth morphology	"anomalous structure or development of the oral cavity" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]	Show Allelic Composition: Card11^m1Btlr/Card11^m1Btlr Genetic Background: C57BL/6J-Card11^m1Btlr
MP:0001258	decreased body length	"decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0001262	decreased body weight	"lower than normal average weight " [J:61295]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0001664	abnormal digestion	"altered ability of the mechanical, chemical, and enzymatic processes of the body to convert ingested food into material suitable for assimiliation for synthesis of tissues or liberation of energy " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0002100	abnormal tooth morphology	"atypical size, shape or hard tissue structure of the teeth " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sept4^tm1Hs/Sept4⁺ Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6J Allelic Composition: Enam^Rgsc514/Enam⁺ Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^Rgsc521/Enam⁺ Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6 Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: involves: C57BL/6
MP:0002576	abnormal enamel morphology	"malformation of the hard outer coating of the exposed portion of the tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:71126, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Sept4^tm1Hs/Sept4⁺ Genetic Background: involves: 129/Sv * 129P2/OlaHsd * C57BL/6J Allelic Composition: Enam^Rgsc514/Enam⁺ Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^Rgsc521/Enam⁺ Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0002577	reduced enamel thickness	"thin hard coating of the exposed portion of the tooth" [J:71126, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Hoxd13^tm1Mrc/Hoxd13⁺ Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6 Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: involves: C57BL/6
MP:0002590	increased mean corpuscular volume	"greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0002644	decreased circulating triglyceride level	"lower than normal concentration of triacylglycerols in the blood" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]	Show Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0002649	abnormal enamel rod pattern	"anomalous orientation of the structural unit of tooth enamel " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6 Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: involves: C57BL/6
MP:0002650	abnormal ameloblast morphology	"malformation of the epithelial cells of the inner layer of the enamel organ of the developing tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, il:Ira Lu , Mouse Genome Informatics Curator]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0002689	abnormal molar morphology	"structural defect of the most posterior teeth located on either side of the jaw, and characterized by a large crown and broad chewing surface" [il:Ira Lu , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0002817	abnormal tooth mineralization	"abnormalities in the process by which calcium salts are deposited into the dental enamel, dentin and cementum " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0002875	decreased erythrocyte count	"reduced number of the cells in the blood that carry oxygen, red blood cells, per unit" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0003053	delayed tooth eruption	"postponed onset of the growth of the teeth out of the gums" [pvb:Pierre Vanden Borre, Mouse Genome Informatics Curator]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0003404	absent enamel	"absence of the hard outer coating of the exposed portion of the tooth" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:92017]	Show Allelic Composition: Hoxd13^tm1Mrc/Hoxd13⁺ Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Enam^Rgsc521/Enam^Rgsc521 Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0003797	abnormal compact bone morphology	"structural anomaly of the outer layers of solid, hard bone that covers spongy bone; consists of parallel osteons containing mineral deposits and interstitial lamellae" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, hdene:Howard Dene , Mouse Genome Informatics Curator]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0003932	abnormal molar crown morphology	"defects in the upper part of the molar, which is normally covered with enamel " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0003960	increased lean body mass	"more than average fat-free physical bulk or volume of the body including all its components except adipose tissue" [honda:Hiraoki Onda, Mouse GEnome Informatics Curator]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0005179	decreased total circulating cholesterol level	"less than the normal concentration in the blood of these most abundant steroids in animal tissues, and precursors to steroid hormones and bile salts; also components of plasma membranes" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0005358	abnormal incisor morphology	"structural defect of the long pointed teeth; most anterior and prominent in the jaw" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, J:85574]	Show Allelic Composition: Enam^Rgsc521/Enam⁺ Genetic Background: involves: C57BL/6JJcl * DBA/2J Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0005584	abnormal enzyme/coenzyme activity	"altered ability of any of these proteins, or their cofactors, to act as catalysts to induce chemical changes in other substances" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0006086	decreased body mass index	"less than normal average of a measure of weight for height " [ncbi:NCBI request, smb:Susan M Bello, Mouse Genome Informatics Curator]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0008851	decreased hemoglobin concentration distribution width	"lower than normal standard deviation of the distribution of erythrocytes by their cellular (individual) hemoglobin concentrations" [MGI:brs "Beverly Richards-Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0010025	decreased total body fat amount	"less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0010096	abnormal incisor color	"anomaly in the color and shading of the incisor, which normally presents in shades of white" [PMID:12407097]	Show Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^Abte2/Enam^Abte2 Genetic Background: C3HeB/FeJ-Enam^Abte2 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0010124	decreased bone mineral content	"reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0010747	abnormal enamel organ morphology	"any structural anomaly of the circumscribed mass of ectodermal cells which bud off from the dental lamina; it becomes cup-shaped and develops on its internal face the ameloblast layer of cells that produces the enamel cap of a developing tooth" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0010968	decreased compact bone area	"reduction in the total amount of cross-sectional area of compact bone tissue" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6
MP:0011584	increased alkaline phosphatase activity	"greater ability to catalyze the reaction: an orthophosphoric monoester + H2O = an alcohol + phosphate, with an alkaline pH optimum" [GO:0004035]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0011894	decreased circulating transferrin level	"reduced concentration in the blood of a plasma protein that reversibly binds and transports iron and other metal ions through the blood to the liver, spleen and bone marrow" [MGI:csmith]	Show Allelic Composition: Tor1a^tm2Wtd/Tor1a^tm4.2Wtd Genetic Background: involves: 129S/SvEv * 129S1/Sv * C57BL/6 Allelic Composition: Enam^Abte2/Enam⁺ Genetic Background: C3HeB/FeJ-Enam^Abte2
MP:0030136	abnormal lower incisor morphology	"any structural anomaly of the lower set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: involves: C57BL/6
MP:0030137	abnormal upper incisor morphology	"any structural anomaly of the upper set of long teeth that are the most anterior and prominent in the jaw" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030138	abnormal lower incisor color	"anomaly in the color and shading of the lower incisors, which normally presents in shades of white" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030139	abnormal upper incisor color	"anomaly in the color and shading of the upper incisors, which normally presents in shades of white" [MGI:anna]	Show Allelic Composition: Hoxd13^tm1Mrc/Hoxd13⁺ Genetic Background: involves: 129S7/SvEvBrd Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030220	mandibular cysts	"presence of saccular lesions lined with epithelium and contained within pathologically formed cavities in the mandible" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0030221	maxillary cysts	"presence of saccular lesions lined with epithelium and contained within pathologically formed cavities in the maxilla" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6
MP:0030450	abnormal enamel mineralization	"anomaly in the process by which calcium salts, mainly carbonated hydroxyapatite, are deposited into the dental enamel" [GO:0070166]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030457	abnormal molar cusp morphology	"any structural anomaly of an elevation or mound on the crown of a molar tooth making up a part of the occlusal (masticatory) surface" [https://medical-dictionary.thefreedictionary.com/cusp+of+tooth, MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030458	abnormal tooth wear	"change in the progression or severity of loss of tooth substance, usually resulting from abrasion, attrition and erosion acting singly or concurrently; tooth wear is a normal, age-dependent physiological process that leads to surface loss of dental hard tissues" [https://www.igi-global.com/dictionary/tooth-wear/45534, https://www.slideshare.net/aneeqa_yaqub/tooth-wear-and-its-types, PMID:22240686]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030459	abnormal tooth attrition	"change in the physiologic wearing away of tooth structure as a result of abnormal tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces" [PMID:22240686, RDO:0007259]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: C57BL/6-Enam^tm1.1Jcch Allelic Composition: Enam^tm1.1Jcch/Enam⁺ Genetic Background: C57BL/6-Enam^tm1.1Jcch
MP:0030514	absent Tomes process	"failure to form the pyramidal extension at the apical pole of a secretory ameloblast that plays an important role in organizing the enamel crystals into a complex network of rod (prism) and interrod enamel" [MGI:anna]	Show Allelic Composition: Enam^tm1.1Jcch/Enam^tm1.1Jcch Genetic Background: involves: C57BL/6

Interacting proteins (from Reactome)

Interactor ID

Name

Interaction type

No match

1 s.

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		© Olivier Tassy / Olivier Pourquie 2007-2024 contact: otassy@igbmc.fr