C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: nephronophthisis 3 (adolescent)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000113971 NPHP3 9606 - 3:132680609-132722442 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000337331 NPHP3-006 132681628-132722442 protein_coding
  ENST00000383282 NPHP3-201 132721445-132722414 protein_coding
  ENST00000465756 NPHP3-002 132681625-132722404 nonsense_mediated_decay
  ENST00000469232 NPHP3-003 132700004-132722007 nonsense_mediated_decay
  ENST00000471145 NPHP3-008 132717993-132721707 processed_transcript
  ENST00000474871 NPHP3-005 132680609-132694870 retained_intron
  ENST00000476742 NPHP3-009 132705674-132716813 processed_transcript
  ENST00000490993 NPHP3-004 132681431-132717355 retained_intron
  ENST00000493732 NPHP3-007 132681282-132684823 retained_intron
  ENST00000512094 NPHP3-011 132681628-132684685 protein_coding
  ENST00000515289 NPHP3-010 132691226-132695156 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdrenalBreastColonLiverLungOvaryENST00000337331ENST00000474871ENST00000493732
Transcript ID Adrenal Breast Colon Liver Lung Ovary
ENST00000337331 N/A 2.789±0.00 3.429±0.00 3.915±0.00 3.774±0.00 4.458±0.37
ENST00000474871 7.185±0.00 N/A N/A N/A N/A 2.926±0.00
ENST00000493732 N/A N/A N/A N/A N/A 10.307±0.00

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001822 IMP kidney development
GO:0001947 IMP heart looping
GO:0003283 IMP atrial septum development
GO:0005515 IPI:IEA protein binding
GO:0005929 IDA cilium
GO:0007368 IMP determination of left/right symmetry
GO:0016055 IEA Wnt signaling pathway
GO:0030324 IMP lung development
GO:0035469 IMP determination of pancreatic left/right asymmetry
GO:0045494 IMP photoreceptor cell maintenance
GO:0048496 IMP maintenance of organ identity
GO:0060027 IGI convergent extension involved in gastrulation
GO:0060271 ISS cilium morphogenesis
GO:0060287 IC epithelial cilium movement involved in determination of left/right asymmetry
GO:0060993 IMP kidney morphogenesis
GO:0071908 IMP determination of intestine left/right asymmetry
GO:0071909 IMP determination of stomach left/right asymmetry
GO:0071910 IMP determination of liver left/right asymmetry
GO:0072189 IMP ureter development
GO:0072372 IDA primary cilium
GO:0090090 IDA negative regulation of canonical Wnt signaling pathway
GO:2000095 ISS regulation of Wnt signaling pathway, planar cell polarity pathway
GO:2000167 IC regulation of planar cell polarity pathway involved in neural tube closure

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000078261 nphp3 nephronophthisis 3 protein_coding Danio_rerio
ENSMUSG00000032558 Nphp3 nephronophthisis 3 (adolescent) protein_coding Mus_musculus

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