 |
 | Services
| |
 |
Aliases & Descriptions for ENAM
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ADAI 2 | | AI1C 2, 5 | | AIH2 2, 5 | | OTTHUMP00000160363 2 | | enamelin 2 |
| | | Descriptions |
|---|
amelogenesis imperfecta 2, hypocalcification (autosomal dominant) 1, 2 |
|
| | Search outside databases for aliases for ENAM genePrevious GC identifers: GC04P071451 GC04P071895 GC04P071960 GC04P071859 |
Summaries for ENAM(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for ENAM: Dental enamel is a highly mineralized tissue with 85% of its volume occupied by unusually large, highly organized, hydroxyapatite crystals. This highly organized and unusual structure is thought to be rigorously controlled in ameloblasts through the interaction of a number of organic matrix molecules that include enamelin, amelogenin (AMELX; MIM 300391), ameloblastin (AMBN; MIM 601259), tuftelin (TUFT1; MIM 600087), dentine sialophosphoprotein (DSPP; MIM 125485), and a variety of enzymes. Enamelin is the largest protein in the enamel matrix of developing teeth and comprises approximately 5% of total enamel matrix protein.[supplied by OMIM] UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formationGene Wiki entry for ENAM |
Genomic Location for ENAM
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q13.3 Ensembl cytogenetic band: 4q13.3 HGNC cytogenetic band: 4q13.3ENAM Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P071734:
(about GC identifiers)
Start:
|
71,713,325 bp from pter |
End:
|
71,731,405 bp from pter |
Size:
|
18,081 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.10 NT_006216.14
| Proteins for ENAM
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
About This Section
| UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1 (See
protein sequence)Recommended Name: Enamelin precursor Size: 1142 amino acids; 128785 Da
Subcellular location: Secreted, extracellular space, extracellular matrix
Secondary accessions: Q17RI5 Q9H3D1Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_114095.2
ENSEMBL proteins: ENSP00000254800 ENSP00000379383
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | | GO:0005578 | proteinaceous extracellular matrix |
NAS | -- | About this table
Antibodies for ENAM: Assays for ENAM: | Protein
Domains/ Families for ENAM(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9NRM1
ProtoNet protein and cluster: Q9NRM1 | Gene Function for ENAM
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031889
Applied Biosystems Silencer® siRNAs for ENAM
Sigma-Aldrich siRNA for ENAM  Sigma-Aldrich shRNA Panels and shRNA for ENAM  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_031889                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_031889                                  untagged cDNA clone in CMV expression vector: NM_031889 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_031889
UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1Function: Involved in the mineralization and structural organization of enamel. Involved in the extension of enamel during the secretory stage of dental enamel formation2 MGI mutant phenotypes (inferred from 4 alleles ) (MGI details for Enam):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030345 | structural constituent of tooth enamel |
NAS | -- | About this table | Pathways & Interactions for ENAM
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
5/13 Interacting proteins for ENAM (ENSP000002548003) via UniProtKB, MINT, and/or STRING (see all 13
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0030282 | bone mineralization |
NAS | -- | | GO:0042476 | odontogenesis |
NAS | -- | About this table
|
Drugs & Compounds for ENAM(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for ENAM 2 Novoseek chemical compound relationships for ENAM gene
About this table
|
Transcripts for ENAM(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_031889
Sigma-Aldrich siRNA for ENAM  Sigma-Aldrich shRNA Panels and shRNA for ENAM  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_031889 REFSEQ mRNAs for ENAM gene: NM_031889.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_031889               OriGene GFP tagged cDNA clone in CMV expression vector: NM_031889                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_031889                                  untagged cDNA clone in CMV expression vector: NM_031889  Additional cDNA sequence: AF125373.1 AF210247.1 BC117308.1 BC117310.1 BC171756.1 4 DOTS entries: DT.70103210 DT.40310739 DT.99979611 DT.100798802 12 AceView cDNA sequences:AF125373 BU741192 BX098849 BM726916 NM_031889 AI675060 AF210247 AI627857 AI078135 AW466983 BG196445 AW770535
highest scoring ESTs for ENAM:AI627857 AF125373 AF210247 AI078135 AI675060 AW466983 BX098849 BM726916 BU428532 BU741192 Unigene Cluster for ENAM: Enamelin Hs.667018 [show with all ESTs]Unigene Representative Sequence: AF125373
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000254800
ENST00000396073
|
Expression for ENAM
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| ENAM expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for ENAM
1 / 2 / 3 3 probe-sets matching ENAM gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAAACACCGT
SOURCE GeneReport for Unigene cluster: Hs.667018 UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1Tissue specificity: Expressed in tooth particularly in odontoblast, ameloblast and cementoblast |
Orthologs for ENAM
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for ENAM gene from 5 species
About this table Species with no ortholog for ENAM
ENSEMBL Gene Tree for ENAM | Paralogs for ENAM(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for ENAM(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for ENAM (up to first 250kb)
|
Disorders & Mutations for ENAM
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 606585 disorders: 104500 204650 UniProtKB/Swiss-Prot: ENAM_HUMAN, Q9NRM1
Defects in ENAM are the cause of amelogenesis imperfecta hypoplastic type 1B (AI1B) [MIM:104500]. AI1B is an autosomal dominant defect of enamel formation. Clinical manifestations may be variable. Some cases present with generalized enamel hypoplasia resulting in small, smooth, yellow and spaced teeth (smooth hypoplastic AI). Others show horizontal rows of pits, grooves or a hypoplastic area in the enamel (local hypoplastic AI) Defects in ENAM are the cause of amelogenesis imperfecta type 1C (AI1C) [MIM:204650]; also known as amelogenesis imperfecta hypoplastic with or without openbite malocclusion. AI1C is an autosomal recessive defect of dental enamel formation. Teeth show hypoplastic and unmineralized enamel, and a yellow-brown discoloration. Enamel defects can be associated with facial and oral features including vertical dysgnathia and anterior openbite malocclusion8 Novoseek disease relationships for ENAM gene
About this table
Human Gene Mutation Database: ENAM Human Genome Epidemiology Navigator: ENAM (1 document)
|
Medical News for ENAM(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for ENAM (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/78 PubMed articles for ENAM gene (see all 78
):- A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). (PubMed id 11978766)1, 2, 3, 4 Mardh C.K....Forsman-Semb K. (2002)
- Enamelin maps to human chromosome 4q21 within the autosomal dominant amelogenesis imperfecta locus. (PubMed id 11037750)1, 3, 4 Dong J.... MacDougall M. (2000)
- Dietary change and adaptive evolution of enamelin in humans and among primates. (PubMed id 18245370)1, 3, 4 Kelley J.L. and Swanson W.J. (2008)
- Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. (PubMed id 14684688)1, 3, 4 Hart T.C.... Firatli E. (2003)
- Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. (PubMed id 11487571)1, 3, 4 Rajpar M.H.... Dixon M.J. (2001)
- Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG. (PubMed id 17125728)1, 3 Pavlic A....Battelino T. (2007)
- Enamelin and autosomal-dominant amelogenesis imperfecta. (PubMed id 14656895)1, 3 Hu J.C. and Yamakoshi Y. (2003)
- Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature. (PubMed id 12828988)1, 3 Hart P.S.... Wright J.T. (2003)
- Cloning human enamelin cDNA, chromosomal localization, and analysis of expression during tooth development. (PubMed id 10831092)1, 3 Hu C.C....Simmer J.P. (2000)
- Candidate gene strategy reveals ENAM mutations. (PubMed id 19329462)1, 3 Kang H.Y....Kim J.W. (2009)
|
Search for ENAM
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing ENAM
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing ENAM
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ENAM(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| About This Section
| --
| Services for ENAM(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for ENAM:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for ENAM |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|