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

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: polycystic kidney disease 2 (autosomal dominant)
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000118762 PKD2 9606 + 4:88007668-88077777 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000237596 PKD2-001 88007668-88077777 protein_coding
  ENST00000502363 PKD2-005 88056066-88075705 protein_coding
  ENST00000506367 PKD2-007 88036064-88043384 retained_intron
  ENST00000506727 PKD2-006 88008232-88038371 retained_intron
  ENST00000508588 PKD2-002 88043261-88075858 protein_coding
  ENST00000511337 PKD2-003 88052070-88075897 processed_transcript
  ENST00000512858 PKD2-004 88052110-88075863 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000237596ENST00000502363ENST00000511337ENST00000512858
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000237596 2.652±0.00 1.995±0.00 5.405±0.00 1.601±0.18 7.613±2.23 4.706±3.25 3.939±0.00 7.686±0.00 3.299±2.54 4.856±2.11 N/A 7.548±5.80 4.352±0.52 5.905±3.90
ENST00000502363 N/A N/A 12.154±0.00 2.130±0.00 11.945±0.00 1.859±0.00 N/A 3.109±0.00 8.083±0.00 4.793±0.00 1.648±0.00 7.416±2.08 13.763±0.00 9.192±0.00
ENST00000511337 3.372±0.00 N/A N/A 2.601±0.00 N/A N/A N/A 1.081±0.00 N/A N/A 0.714±0.00 2.881±0.00 N/A N/A
ENST00000512858 N/A N/A N/A N/A N/A 1.299±0.00 N/A N/A N/A N/A N/A N/A N/A N/A

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0000BK CIL_0000BK_0001 CGP 4:87975650-88077777
CIL_0001RO CIL_0001RO_0002 CGP 4:88007668-88231322

Gene Ontology
GO IDEvidence TypeGO Description
GO:0001658 IEP branching involved in ureteric bud morphogenesis
GO:0001822 IEA kidney development
GO:0001889 IEP liver development
GO:0001892 ISS embryonic placenta development
GO:0001947 IMP heart looping
GO:0002133 ISS polycystin complex
GO:0003127 ISS detection of nodal flow
GO:0005102 IPI receptor binding
GO:0005216 IEA ion channel activity
GO:0005244 IDA voltage-gated ion channel activity
GO:0005245 IDA voltage-gated calcium channel activity
GO:0005248 IDA voltage-gated sodium channel activity
GO:0005267 ISS potassium channel activity
GO:0005509 ISS:IEA calcium ion binding
GO:0005515 IPI protein binding
GO:0005737 IDA cytoplasm
GO:0005783 IDA endoplasmic reticulum
GO:0005789 IDA endoplasmic reticulum membrane
GO:0005886 IDA plasma membrane
GO:0005887 IDA integral component of plasma membrane
GO:0005911 ISS cell-cell junction
GO:0005929 ISS cilium
GO:0006811 IEA ion transport
GO:0006816 ISS calcium ion transport
GO:0006874 IEA cellular calcium ion homeostasis
GO:0007050 ISS cell cycle arrest
GO:0007204 IEA positive regulation of cytosolic calcium ion concentration
GO:0007259 ISS JAK-STAT cascade
GO:0007368 ISS determination of left/right symmetry
GO:0007507 IEP heart development
GO:0008092 IDA cytoskeletal protein binding
GO:0008285 NAS negative regulation of cell proliferation
GO:0009925 IDA basal plasma membrane
GO:0010628 IEA positive regulation of gene expression
GO:0015267 IEA channel activity
GO:0016020 IEA membrane
GO:0021510 IEP spinal cord development
GO:0021915 IEP neural tube development
GO:0022843 IDA voltage-gated cation channel activity
GO:0030027 IDA lamellipodium
GO:0030814 ISS regulation of cAMP metabolic process
GO:0031512 ISS motile primary cilium
GO:0031513 ISS nonmotile primary cilium
GO:0031587 IMP positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity
GO:0031659 IDA positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
GO:0031941 IDA filamentous actin
GO:0034614 NAS cellular response to reactive oxygen species
GO:0035502 IEP metanephric part of ureteric bud development
GO:0035725 IDA sodium ion transmembrane transport
GO:0035904 IEP aorta development
GO:0036064 IDA ciliary basal body
GO:0042127 IMP regulation of cell proliferation
GO:0042802 ISS identical protein binding
GO:0042803 IDA protein homodimerization activity
GO:0042805 IDA actinin binding
GO:0042994 IMP cytoplasmic sequestering of transcription factor
GO:0043398 IPI HLH domain binding
GO:0044325 IPI ion channel binding
GO:0045180 IDA basal cortex
GO:0045429 IMP positive regulation of nitric oxide biosynthetic process
GO:0045944 IDA positive regulation of transcription from RNA polymerase II promoter
GO:0048763 IDA calcium-induced calcium release activity
GO:0050982 ISS detection of mechanical stimulus
GO:0051117 ISS ATPase binding
GO:0051209 IDA release of sequestered calcium ion into cytosol
GO:0051219 IPI phosphoprotein binding
GO:0051298 NAS centrosome duplication
GO:0051371 IEA muscle alpha-actinin binding
GO:0051393 IEA alpha-actinin binding
GO:0055085 IEA transmembrane transport
GO:0060315 ISS negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0060674 ISS placenta blood vessel development
GO:0061333 ISS renal tubule morphogenesis
GO:0061441 IEP renal artery morphogenesis
GO:0070062 IDA extracellular vesicular exosome
GO:0070588 IDA calcium ion transmembrane transport
GO:0071158 IMP positive regulation of cell cycle arrest
GO:0071458 IDA integral component of cytoplasmic side of endoplasmic reticulum membrane
GO:0071464 IDA cellular response to hydrostatic pressure
GO:0071470 IDA cellular response to osmotic stress
GO:0071498 IMP cellular response to fluid shear stress
GO:0071556 IDA integral component of lumenal side of endoplasmic reticulum membrane
GO:0071805 IEA potassium ion transmembrane transport
GO:0071910 IMP determination of liver left/right asymmetry
GO:0072001 IEA renal system development
GO:0072075 IEP metanephric mesenchyme development
GO:0072164 IEP mesonephric tubule development
GO:0072177 IEP mesonephric duct development
GO:0072208 IEP metanephric smooth muscle tissue development
GO:0072214 IEP metanephric cortex development
GO:0072218 IEP metanephric ascending thin limb development
GO:0072219 IEP metanephric cortical collecting duct development
GO:0072235 IEP metanephric distal tubule development
GO:0072284 IEP metanephric S-shaped body morphogenesis
GO:0072686 IDA mitotic spindle
GO:0090279 IDA regulation of calcium ion import
GO:2000134 IMP negative regulation of G1/S transition of mitotic cell cycle

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000014098 pkd2 polycystic kidney disease 2 protein_coding Danio_rerio
ENSMUSG00000034462 Pkd2 polycystic kidney disease 2 protein_coding Mus_musculus

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