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ENAM (enamelin)

Identity

Alias_namesAIH2
amelogenesis imperfecta 2, hypocalcification (autosomal dominant)
Other aliasADAI
AI1C
HGNC (Hugo) ENAM
LocusID (NCBI) 10117
Atlas_Id 62829
Location 4q13.3  [Link to chromosome band 4q13]
Location_base_pair Starts at 71494461 and ends at 71512536 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)ENAM   3344
Cards
Entrez_Gene (NCBI)ENAM  10117  enamelin
AliasesADAI; AI1C; AIH2
GeneCards (Weizmann)ENAM
Ensembl hg19 (Hinxton)ENSG00000132464 [Gene_View]  chr4:71494461-71512536 [Contig_View]  ENAM [Vega]
Ensembl hg38 (Hinxton)ENSG00000132464 [Gene_View]  chr4:71494461-71512536 [Contig_View]  ENAM [Vega]
ICGC DataPortalENSG00000132464
TCGA cBioPortalENAM
AceView (NCBI)ENAM
Genatlas (Paris)ENAM
WikiGenes10117
SOURCE (Princeton)ENAM
Genetics Home Reference (NIH)ENAM
Genomic and cartography
GoldenPath hg19 (UCSC)ENAM  -     chr4:71494461-71512536 +  4q13.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ENAM  -     4q13.3   [Description]    (hg38-Dec_2013)
EnsemblENAM - 4q13.3 [CytoView hg19]  ENAM - 4q13.3 [CytoView hg38]
Mapping of homologs : NCBIENAM [Mapview hg19]  ENAM [Mapview hg38]
OMIM104500   204650   606585   
Gene and transcription
Genbank (Entrez)AF125373 AF210247 BC111841 BC117308 BC117310
RefSeq transcript (Entrez)NM_031889
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_013024 NT_016354 NW_004929320
Consensus coding sequences : CCDS (NCBI)ENAM
Cluster EST : UnigeneHs.667018 [ NCBI ]
CGAP (NCI)Hs.667018
Alternative Splicing GalleryENSG00000132464
Gene ExpressionENAM [ NCBI-GEO ]   ENAM [ EBI - ARRAY_EXPRESS ]   ENAM [ SEEK ]   ENAM [ MEM ]
Gene Expression Viewer (FireBrowse)ENAM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10117
GTEX Portal (Tissue expression)ENAM
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NRM1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NRM1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NRM1
Splice isoforms : SwissVarQ9NRM1
PhosPhoSitePlusQ9NRM1
Domains : Interpro (EBI)Enamelin   
Domain families : Pfam (Sanger)Enamelin (PF15362)   
Domain families : Pfam (NCBI)pfam15362   
Conserved Domain (NCBI)ENAM
DMDM Disease mutations10117
Blocks (Seattle)ENAM
SuperfamilyQ9NRM1
Human Protein AtlasENSG00000132464
Peptide AtlasQ9NRM1
HPRD05960
IPIIPI00016685   
Protein Interaction databases
DIP (DOE-UCLA)Q9NRM1
IntAct (EBI)Q9NRM1
FunCoupENSG00000132464
BioGRIDENAM
STRING (EMBL)ENAM
ZODIACENAM
Ontologies - Pathways
QuickGOQ9NRM1
Ontology : AmiGOproteinaceous extracellular matrix  biomineral tissue development  amelogenesis  
Ontology : EGO-EBIproteinaceous extracellular matrix  biomineral tissue development  amelogenesis  
NDEx NetworkENAM
Atlas of Cancer Signalling NetworkENAM
Wikipedia pathwaysENAM
Orthology - Evolution
OrthoDB10117
GeneTree (enSembl)ENSG00000132464
Phylogenetic Trees/Animal Genes : TreeFamENAM
HOVERGENQ9NRM1
HOGENOMQ9NRM1
Homologs : HomoloGeneENAM
Homology/Alignments : Family Browser (UCSC)ENAM
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerENAM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ENAM
dbVarENAM
ClinVarENAM
1000_GenomesENAM 
Exome Variant ServerENAM
ExAC (Exome Aggregation Consortium)ENAM (select the gene name)
Genetic variants : HAPMAP10117
Genomic Variants (DGV)ENAM [DGVbeta]
DECIPHER (Syndromes)4:71494461-71512536  ENSG00000132464
CONAN: Copy Number AnalysisENAM 
Mutations
ICGC Data PortalENAM 
TCGA Data PortalENAM 
Broad Tumor PortalENAM
OASIS PortalENAM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICENAM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDENAM
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ENAM
DgiDB (Drug Gene Interaction Database)ENAM
DoCM (Curated mutations)ENAM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ENAM (select a term)
intoGenENAM
Cancer3DENAM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM104500    204650    606585   
Orphanet14604   
MedgenENAM
Genetic Testing Registry ENAM
NextProtQ9NRM1 [Medical]
TSGene10117
GENETestsENAM
Huge Navigator ENAM [HugePedia]
snp3D : Map Gene to Disease10117
BioCentury BCIQENAM
ClinGenENAM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10117
Chemical/Pharm GKB GenePA27781
Clinical trialENAM
Miscellaneous
canSAR (ICR)ENAM (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineENAM
EVEXENAM
GoPubMedENAM
iHOPENAM
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:02:52 CET 2017

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