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NPNT (nephronectin)

Identity

Alias_symbol (synonym)EGFL6L
POEM
Other alias
HGNC (Hugo) NPNT
LocusID (NCBI) 255743
Atlas_Id 50401
Location 4q24  [Link to chromosome band 4q24]
Location_base_pair Starts at 105895440 and ends at 105971671 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LMOD1 (1q32.1) / NPNT (4q24)NPNT (4q24) / NPNT (4q24)NPNT (4q24) / ST3GAL1 (8q24.22)

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)NPNT   27405
Cards
Entrez_Gene (NCBI)NPNT  255743  nephronectin
AliasesEGFL6L; POEM
GeneCards (Weizmann)NPNT
Ensembl hg19 (Hinxton)ENSG00000168743 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168743 [Gene_View]  chr4:105895440-105971671 [Contig_View]  NPNT [Vega]
ICGC DataPortalENSG00000168743
TCGA cBioPortalNPNT
AceView (NCBI)NPNT
Genatlas (Paris)NPNT
WikiGenes255743
SOURCE (Princeton)NPNT
Genetics Home Reference (NIH)NPNT
Genomic and cartography
GoldenPath hg38 (UCSC)NPNT  -     chr4:105895440-105971671 +  4q24   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NPNT  -     4q24   [Description]    (hg19-Feb_2009)
EnsemblNPNT - 4q24 [CytoView hg19]  NPNT - 4q24 [CytoView hg38]
Mapping of homologs : NCBINPNT [Mapview hg19]  NPNT [Mapview hg38]
OMIM610306   
Gene and transcription
Genbank (Entrez)AK172856 AK290029 AK295772 AK302477 AK304279
RefSeq transcript (Entrez)NM_001033047 NM_001184690 NM_001184691 NM_001184692 NM_001184693 NM_198278
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NPNT
Cluster EST : UnigeneHs.518921 [ NCBI ]
CGAP (NCI)Hs.518921
Alternative Splicing GalleryENSG00000168743
Gene ExpressionNPNT [ NCBI-GEO ]   NPNT [ EBI - ARRAY_EXPRESS ]   NPNT [ SEEK ]   NPNT [ MEM ]
Gene Expression Viewer (FireBrowse)NPNT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)255743
GTEX Portal (Tissue expression)NPNT
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6UXI9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6UXI9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6UXI9
Splice isoforms : SwissVarQ6UXI9
PhosPhoSitePlusQ6UXI9
Domaine pattern : Prosite (Expaxy)ASX_HYDROXYL (PS00010)    EGF_1 (PS00022)    EGF_2 (PS01186)    EGF_3 (PS50026)    EGF_CA (PS01187)    MAM_2 (PS50060)   
Domains : Interpro (EBI)ConA-like_dom    EGF-like_Ca-bd_dom    EGF-like_CS    EGF-like_dom    EGF-type_Asp/Asn_hydroxyl_site    EGF_Ca-bd_CS    Growth_fac_rcpt_    MAM_dom   
Domain families : Pfam (Sanger)EGF_CA (PF07645)    MAM (PF00629)   
Domain families : Pfam (NCBI)pfam07645    pfam00629   
Domain families : Smart (EMBL)EGF (SM00181)  EGF_CA (SM00179)  MAM (SM00137)  
Conserved Domain (NCBI)NPNT
DMDM Disease mutations255743
Blocks (Seattle)NPNT
SuperfamilyQ6UXI9
Human Protein AtlasENSG00000168743
Peptide AtlasQ6UXI9
HPRD14141
IPIIPI00940626   IPI00157556   IPI00748819   IPI00910888   IPI00967557   IPI00910097   IPI00965931   IPI00964777   IPI00964242   IPI00967819   IPI00964503   
Protein Interaction databases
DIP (DOE-UCLA)Q6UXI9
IntAct (EBI)Q6UXI9
FunCoupENSG00000168743
BioGRIDNPNT
STRING (EMBL)NPNT
ZODIACNPNT
Ontologies - Pathways
QuickGOQ6UXI9
Ontology : AmiGOureteric bud development  branching involved in ureteric bud morphogenesis  integrin binding  integrin binding  calcium ion binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  cell-matrix adhesion  positive regulation of alkaline phosphatase activity  positive regulation of cell-substrate adhesion  extracellular matrix organization  smooth muscle contractile fiber  positive regulation of transforming growth factor beta receptor signaling pathway  cell-cell adhesion mediated by integrin  integrin alpha8-beta1 complex  establishment of protein localization  positive regulation of osteoblast differentiation  positive regulation of smooth muscle contraction  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  cellular response to tumor necrosis factor  pilomotor reflex  positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  
Ontology : EGO-EBIureteric bud development  branching involved in ureteric bud morphogenesis  integrin binding  integrin binding  calcium ion binding  extracellular region  proteinaceous extracellular matrix  basement membrane  extracellular space  cell-matrix adhesion  positive regulation of alkaline phosphatase activity  positive regulation of cell-substrate adhesion  extracellular matrix organization  smooth muscle contractile fiber  positive regulation of transforming growth factor beta receptor signaling pathway  cell-cell adhesion mediated by integrin  integrin alpha8-beta1 complex  establishment of protein localization  positive regulation of osteoblast differentiation  positive regulation of smooth muscle contraction  extracellular exosome  positive regulation of ERK1 and ERK2 cascade  cellular response to tumor necrosis factor  pilomotor reflex  positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation  
NDEx NetworkNPNT
Atlas of Cancer Signalling NetworkNPNT
Wikipedia pathwaysNPNT
Orthology - Evolution
OrthoDB255743
GeneTree (enSembl)ENSG00000168743
Phylogenetic Trees/Animal Genes : TreeFamNPNT
HOVERGENQ6UXI9
HOGENOMQ6UXI9
Homologs : HomoloGeneNPNT
Homology/Alignments : Family Browser (UCSC)NPNT
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNPNT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NPNT
dbVarNPNT
ClinVarNPNT
1000_GenomesNPNT 
Exome Variant ServerNPNT
ExAC (Exome Aggregation Consortium)NPNT (select the gene name)
Genetic variants : HAPMAP255743
Genomic Variants (DGV)NPNT [DGVbeta]
DECIPHERNPNT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNPNT 
Mutations
ICGC Data PortalNPNT 
TCGA Data PortalNPNT 
Broad Tumor PortalNPNT
OASIS PortalNPNT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNPNT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNPNT
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 NPNT
DgiDB (Drug Gene Interaction Database)NPNT
DoCM (Curated mutations)NPNT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NPNT (select a term)
intoGenNPNT
Cancer3DNPNT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610306   
Orphanet
MedgenNPNT
Genetic Testing Registry NPNT
NextProtQ6UXI9 [Medical]
TSGene255743
GENETestsNPNT
Target ValidationNPNT
Huge Navigator NPNT [HugePedia]
snp3D : Map Gene to Disease255743
BioCentury BCIQNPNT
ClinGenNPNT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD255743
Chemical/Pharm GKB GenePA142671247
Clinical trialNPNT
Miscellaneous
canSAR (ICR)NPNT (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNPNT
EVEXNPNT
GoPubMedNPNT
iHOPNPNT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Aug 1 17:09:21 CEST 2017

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