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Aliases for NPNT Gene

Aliases for NPNT Gene

  • Nephronectin 2 3 3 5
  • Preosteoblast EGF-Like Repeat Protein With MAM Domain 3 4
  • EGFL6L 3 4
  • POEM 3 4
  • Protein EGFL6-Like 4

External Ids for NPNT Gene

Previous GeneCards Identifiers for NPNT Gene

  • GC04P107175
  • GC04P107036
  • GC04P106816
  • GC04P102551

Summaries for NPNT Gene

GeneCards Summary for NPNT Gene

NPNT (Nephronectin) is a Protein Coding gene. GO annotations related to this gene include calcium ion binding and integrin binding. An important paralog of this gene is EGFL6.

UniProtKB/Swiss-Prot for NPNT Gene

  • Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NPNT Gene

Genomics for NPNT Gene

Regulatory Elements for NPNT Gene

Enhancers for NPNT Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G106314 1.4 ENCODE dbSUPER 4.3 +421.9 421883 4.0 HDGF PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZNF2 TBCK NPNT AIMP1
GH04G106311 1.2 Ensembl ENCODE dbSUPER 4.3 +418.3 418316 2.0 SCRT1 ZNF362 NR2F1 BHLHE40 MNT RAD51 JUND EGR1 IKZF1 SCRT2 TBCK NPNT AIMP1 GC04M106256
GH04G105965 1.4 FANTOM5 Ensembl ENCODE dbSUPER 2.2 +71.7 71658 1.3 RFX1 STAT3 CEBPB MNT FOXP2 EP300 PRDM1 ENSG00000250740 NPNT LOC101929577
GH04G106244 0.6 ENCODE 4.3 +350.9 350924 1.7 CTCF GATA3 ZNF366 HMBOX1 ZSCAN29 FOXP2 NFE2 NFE2L2 TBCK NPNT GC04M106235 GC04M106256
GH04G105969 0.2 dbSUPER 10.1 +76.1 76130 1.7 ENSG00000250740 INTS12 NPNT GSTCD LOC101929577
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NPNT on UCSC Golden Path with GeneCards custom track

Promoters for NPNT Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000171482 1074 1201 ZSCAN4 ZNF76 KLF17 FEZF1 ZNF121 GLIS2 SCRT2 EGR2 SP3 CBFB

Genomic Location for NPNT Gene

Chromosome:
4
Start:
105,894,526 bp from pter
End:
106,004,027 bp from pter
Size:
109,502 bases
Orientation:
Plus strand

Genomic View for NPNT Gene

Genes around NPNT on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NPNT Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NPNT Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NPNT Gene

Proteins for NPNT Gene

  • Protein details for NPNT Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6UXI9-NPNT_HUMAN
    Recommended name:
    Nephronectin
    Protein Accession:
    Q6UXI9
    Secondary Accessions:
    • A6NFT9
    • A8K1W4
    • B4DIT4
    • B4DYK3
    • B4E2H7
    • B4E3H2
    • D6RCA1
    • E9PCK8
    • E9PCQ1
    • E9PE64
    • E9PF04

    Protein attributes for NPNT Gene

    Size:
    565 amino acids
    Molecular mass:
    61907 Da
    Quaternary structure:
    • Homodimer and homotrimer.

    Alternative splice isoforms for NPNT Gene

neXtProt entry for NPNT Gene

Post-translational modifications for NPNT Gene

  • Glycosylation at posLast=264264 and posLast=376376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NPNT Gene

Domains & Families for NPNT Gene

Suggested Antigen Peptide Sequences for NPNT Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6UXI9

UniProtKB/Swiss-Prot:

NPNT_HUMAN :
  • The MAM domain is required for localization at the cell surface.
  • Belongs to the nephronectin family.
Domain:
  • The MAM domain is required for localization at the cell surface.
Family:
  • Belongs to the nephronectin family.
genes like me logo Genes that share domains with NPNT: view

No data available for Gene Families for NPNT Gene

Function for NPNT Gene

Molecular function for NPNT Gene

UniProtKB/Swiss-Prot Function:
Functional ligand of integrin alpha-8/beta-1 in kidney development. Regulates the expression of GDNF with integrin alpha-8/beta-1 which is essential for kidney development. May also play a role in the development and function of various tissues, regulating cell adhesion, spreading and survival through the binding of several integrins (By similarity).

Gene Ontology (GO) - Molecular Function for NPNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005178 integrin binding NAS 11470831
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with NPNT: view

Phenotypes for NPNT Gene

genes like me logo Genes that share phenotypes with NPNT: view

Animal Models for NPNT Gene

MGI Knock Outs for NPNT:

Animal Model Products

  • Taconic Biosciences Mouse Models for NPNT

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NPNT Gene

Localization for NPNT Gene

Subcellular locations from UniProtKB/Swiss-Prot for NPNT Gene

Secreted, extracellular space, extracellular matrix. Note=Trapped on the cell surface or in the extracellular matrix. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NPNT gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for NPNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region ISS 15754038
GO:0005578 proteinaceous extracellular matrix ISS,IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NPNT: view

Pathways & Interactions for NPNT Gene

No Data Available

Interacting Proteins for NPNT Gene

Gene Ontology (GO) - Biological Process for NPNT Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001657 ureteric bud development ISS 15754038
GO:0001658 branching involved in ureteric bud morphogenesis ISS 15754038
GO:0007155 cell adhesion IEA --
GO:0007160 cell-matrix adhesion ISS 15754038
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with NPNT: view

No data available for Pathways by source and SIGNOR curated interactions for NPNT Gene

Drugs & Compounds for NPNT Gene

No Compound Related Data Available

Transcripts for NPNT Gene

Unigene Clusters for NPNT Gene

Nephronectin:
Representative Sequences:

CRISPR Products

Alternative Splicing Database (ASD) splice patterns (SP) for NPNT Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16
SP1: - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: -
SP7: - - -
SP8: - -
SP9:

Relevant External Links for NPNT Gene

GeneLoc Exon Structure for
NPNT
ECgene alternative splicing isoforms for
NPNT

Expression for NPNT Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NPNT Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NPNT Gene

This gene is overexpressed in Thyroid (x8.8), Artery - Aorta (x6.4), Lung (x4.8), Artery - Tibial (x4.5), and Artery - Coronary (x4.2).

Protein differential expression in normal tissues from HIPED for NPNT Gene

This gene is overexpressed in Gallbladder (28.4) and Milk (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for NPNT Gene



NURSA nuclear receptor signaling pathways regulating expression of NPNT Gene:

NPNT

SOURCE GeneReport for Unigene cluster for NPNT Gene:

Hs.518921

mRNA Expression by UniProt/SwissProt for NPNT Gene:

Q6UXI9-NPNT_HUMAN
Tissue specificity: Expressed in kidney and lung and to a lower extent in brain, pregnant uterus, placenta, thyroid gland and blood vessels.

Evidence on tissue expression from TISSUES for NPNT Gene

  • Nervous system(4.2)
  • Kidney(2.6)
  • Lung(2)
  • Thyroid gland(2)
genes like me logo Genes that share expression patterns with NPNT: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NPNT Gene

Orthologs for NPNT Gene

This gene was present in the common ancestor of animals.

Orthologs for NPNT Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NPNT 34 35
  • 98.27 (n)
dog
(Canis familiaris)
Mammalia NPNT 34 35
  • 91.04 (n)
cow
(Bos Taurus)
Mammalia NPNT 34 35
  • 89.66 (n)
mouse
(Mus musculus)
Mammalia Npnt 34 16 35
  • 88.14 (n)
oppossum
(Monodelphis domestica)
Mammalia NPNT 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPNT 35
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPNT 34 35
  • 73.66 (n)
lizard
(Anolis carolinensis)
Reptilia NPNT 35
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npnt 34
  • 66.97 (n)
zebrafish
(Danio rerio)
Actinopterygii npnt 34 35
  • 60.56 (n)
worm
(Caenorhabditis elegans)
Secernentea mua-3 35
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 4 (a)
OneToMany
Species where no ortholog for NPNT was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NPNT Gene

ENSEMBL:
Gene Tree for NPNT (if available)
TreeFam:
Gene Tree for NPNT (if available)

Paralogs for NPNT Gene

Paralogs for NPNT Gene

(11) SIMAP similar genes for NPNT Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NPNT: view

Variants for NPNT Gene

Sequence variations from dbSNP and Humsavar for NPNT Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000046554 -- 105,928,780(+) AAATA(A/G)TCATA intron-variant
rs10000995 -- 105,917,861(+) GGTCA(C/G/T)ATCAT intron-variant
rs10001493 -- 105,897,435(+) CCCAT(C/G)CACCT intron-variant
rs1000224290 -- 105,943,680(+) ACTTC(A/G)CTTAT intron-variant
rs1000250247 -- 105,965,404(+) CGCAC(A/G)GAGTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NPNT Gene

Variant ID Type Subtype PubMed ID
esv2418320 CNV deletion 18987734
nsv1000196 CNV loss 25217958
nsv1014993 CNV gain 25217958

Variation tolerance for NPNT Gene

Residual Variation Intolerance Score: 90.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.61; 91.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NPNT Gene

Human Gene Mutation Database (HGMD)
NPNT
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NPNT

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NPNT Gene

Disorders for NPNT Gene

Relevant External Links for NPNT

Genetic Association Database (GAD)
NPNT
Human Genome Epidemiology (HuGE) Navigator
NPNT
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NPNT

No disorders were found for NPNT Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for NPNT Gene

Publications for NPNT Gene

  1. Identification and characterization of a novel human nephronectin gene in silico. (PMID: 15754038) Huang J.T.-J. … Lee V. (Int. J. Mol. Med. 2005) 2 3 4 22 64
  2. Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. (PMID: 20010835) Hancock D.B. … London S.J. (Nat. Genet. 2010) 3 46 64
  3. A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts. (PMID: 20332099) Kalsi G. … Riley B.P. (Hum. Mol. Genet. 2010) 3 46 64
  4. MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7. (PMID: 19844573) Kahai S. … Yang B.B. (PLoS ONE 2009) 3 22 64
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4 64

Products for NPNT Gene

Sources for NPNT Gene

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