Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NPNT Gene

Aliases for NPNT Gene

  • Nephronectin 2 3
  • POEM 3 4 6
  • Preosteoblast EGF-Like Repeat Protein With MAM Domain 3 4
  • EGFL6L 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 NELL1.

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 , 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

Genomic Location for NPNT Gene

Start:
105,894,775 bp from pter
End:
106,004,027 bp from pter
Size:
109,253 bases
Orientation:
Plus strand

Genomic View for NPNT Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for NPNT Gene at MOPED

Post-translational modifications for NPNT Gene

  • Glycosylation at Ser264 and Thr376
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NPNT Gene

Domains 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 :
  • Q6UXI9
Domain:
  • The MAM domain is required for localization at the cell surface.
  • Contains 5 EGF-like domains.
  • Contains 1 MAM domain.
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 --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with NPNT: view

Phenotypes for NPNT Gene

MGI mutant phenotypes for NPNT:
inferred from 2 alleles
GenomeRNAi human phenotypes for NPNT:
genes like me logo Genes that share phenotypes with NPNT: view

Animal Models for NPNT Gene

MGI Knock Outs for NPNT:

miRNA for NPNT Gene

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for NPNT Gene COMPARTMENTS Subcellular localization image for NPNT gene
Compartment Confidence
extracellular 3
endoplasmic reticulum 1
lysosome 1
plasma membrane 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 --
GO:0005604 basement membrane IEA --
GO:0016020 membrane --
GO:0030485 smooth muscle contractile fiber IEA --
genes like me logo Genes that share ontologies with NPNT: view

Pathways for NPNT Gene

SuperPathways for NPNT Gene

No Data Available

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:0007160 cell-matrix adhesion ISS 15754038
GO:0010694 positive regulation of alkaline phosphatase activity IEA --
GO:0010811 positive regulation of cell-substrate adhesion ISS 15754038
genes like me logo Genes that share ontologies with NPNT: view

No data available for Pathways by source for NPNT Gene

Transcripts for NPNT Gene

Unigene Clusters for NPNT Gene

Nephronectin:
Representative Sequences:

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 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 (8.8), Artery - Aorta (6.4), Lung (4.8), Artery - Tibial (4.5), and Artery - Coronary (4.2).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for NPNT Gene

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.
genes like me logo Genes that share expressions with NPNT: view

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 35
  • 98.27 (n)
  • 97.69 (a)
NPNT 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NPNT 35
  • 89.66 (n)
  • 89.48 (a)
NPNT 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NPNT 35
  • 91.04 (n)
  • 90.57 (a)
NPNT 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Npnt 35
  • 88.14 (n)
  • 88.67 (a)
Npnt 16
Npnt 36
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NPNT 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NPNT 36
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves NPNT 35
  • 73.66 (n)
  • 71.5 (a)
NPNT 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NPNT 36
  • 63 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia npnt 35
  • 66.97 (n)
  • 66.07 (a)
zebrafish
(Danio rerio)
Actinopterygii npnt 35
  • 60.56 (n)
  • 58.72 (a)
npnt 36
  • 53 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea mua-3 36
  • 4 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 4 (a)
OneToMany
Species with no ortholog for NPNT:
  • 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

Selected 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 MAF
rs2068895 -- 105,924,116(-) AGAGG(C/T)AAGAG intron-variant
rs2069092 -- 105,909,834(-) GCATG(A/C)ATAAA intron-variant, upstream-variant-2KB
rs2903387 -- 105,914,235(-) ATACT(A/G)TATAC intron-variant
rs3177136 -- 105,971,659(+) AAAAC(A/C)CTGTT utr-variant-3-prime
rs4074126 -- 105,945,791(+) AACAT(A/G)CTGAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv2418320 CNV Deletion 18987734

Relevant External Links for NPNT Gene

HapMap Linkage Disequilibrium report
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
genes like me logo Genes that share disorders with NPNT: view

No data available for UniProtKB/Swiss-Prot 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 23
  2. MicroRNA miR-378 regulates nephronectin expression modulating osteoblast differentiation by targeting GalNT-7. (PMID: 19844573) Kahai S. … Yang B.B. (PLoS ONE 2009) 3 23
  3. 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 48
  4. 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 48
  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

Products for NPNT Gene

Sources for NPNT Gene

Back to Top

Content