polycystic kidney disease 2 (autosomal dominant)

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Synonym

Polycystwin, Polycystin-2, PKD4, PKD2, Polycystic kidney disease 2 protein homolog, polycystic kidney disease 2 (autosomal dominant), APKD2, R48321, MGC138468, MGC138466

Expression Pattern

Choropleth map on BodyParts3D

Choropleth maps on 3D human body images were generated by the relative gene expression values measured by GeneChip.

Classification in 40 Organs

brain blood connective
EST cerebrum:26.10 cerebellum:- brain stem:- corpus callosum/glia:29.20 pineal gland:- peripheral nerve:92 spine:- retina:- eye:41.10 artery/aorta:89.90 vein:66.60 lymphnode:70.80 peripheral blood:- spleen:- thymus:12.90 bone marrow:19.70 adipose:- bone:25.60 skin:48
GeneChip cerebrum:5.73 cerebellum:5.72 brain stem:5.78 corpus callosum/glia:6.57 pineal gland:- peripheral nerve:6.95 spine:6.21 retina:- eye:- artery/aorta:7.99 vein:7.35 lymphnode:6 peripheral blood:- spleen:5.72 thymus:6.05 bone marrow:5.40 adipose:7.32 bone:- skin:6.08
CAGE cerebrum:2.52 cerebellum:- brain stem:2.84 corpus callosum/glia:3.17 pineal gland:2.84 peripheral nerve:- spine:2.56 retina:- eye:- artery/aorta:4.82 vein:2.83 lymphnode:1.68 peripheral blood:- spleen:1.86 thymus:2.11 bone marrow:- adipose:3.23 bone:- skin:-
RNA-seq cerebrum:2.48 cerebellum:- brain stem:- corpus callosum/glia:- pineal gland:- peripheral nerve:- spine:- retina:- eye:- artery/aorta:- vein:- lymphnode:3.94 peripheral blood:- spleen:- thymus:- bone marrow:- adipose:3.37 bone:- skin:-
reproductive muscular alimentary liver lung urinary endo/exo-crine
EST uterus:136.70 placenta:14.60 prostate:56.30 ovary:74.50 testis:13 heart:38.30 muscle:20.10 esophagus:342.80 stomach:21.20 intestine:- colon:33.90     liver/hepato:42.20        lung:73.30    bladder:- kidney:52 pituitary:- thyroid/parathyroid:- adrenal gland:- pancreas:142.30 breast:74.30 salivary:-
GeneChip uterus:7.99 placenta:6.57 prostate:6.73 ovary:8.04 testis:5.50 heart:6.70 muscle:4.85 esophagus:5.85 stomach:6.74 intestine:6.42 colon:5.35 liver/hepato:5.69 lung:7.15 bladder:- kidney:7.51 pituitary:5.80 thyroid/parathyroid:6.73 adrenal gland:7.02 pancreas:5.79 breast:6.74 salivary:5.15
CAGE uterus:3.84 placenta:2.71 prostate:3.24 ovary:3.30 testis:2.42 heart:3.03 muscle:1.91 esophagus:3.08 stomach:- intestine:2.50 colon:2.88     liver/hepato:1.69    lung:2.92 bladder:3.02 kidney:3.07 pituitary:2.49 thyroid/parathyroid:2.45 adrenal gland:- pancreas:2.48 breast:3.12 salivary:1.67
RNA-seq uterus:- placenta:- prostate:4.16 ovary:4.38 testis:3.80 heart:2.71 muscle:1.28 esophagus:- stomach:- intestine:- colon:4.24     liver/hepato:1.39        lung:3.92    bladder:- kidney:4.47 pituitary:- thyroid/parathyroid:3.29 adrenal gland:3.12 pancreas:- breast:3.92 salivary:-

Gene Information

IDs

Refseq ID NM_000297
Gene ID 5311
Unigene ID Hs.181272
Probe set ID 203688_at  [HG-U133_Plus_2]
Ensembl ID ENSG00000118762
GTEx ID ENSG00000118762

Orthologous Gene

Mouse[1]  NM_008861
Rat [0]  

Chromosomal Region

4q22.1  [88,928,820  -  88,998,929]

Gene Family (Interpro ID)

IPR018249  EF-HAND 2

Link to Pubmed  (Pubmed ID)

8298643
8619474
8650545
8954772
9110174
9171830
9175744
9192675
9286709
9326320
9402976
9529618
9573526
9949210
10097141
10411676
10541293
10760273
10770959
10835625
10913159
11076863
11252306
11438989
11698076
11854751
11891195
11901144
11991947
12477932
12525172
12527301
12707387
12809519
12946628
14993477
15001556
15123714
15130895
15194699
15300626
15337773
15382167
15489334
15692563
15717641
15780076
15843396
16025301
16038619
16192288
16215947
16223735
16278216
16311606
16319969
16551655
17008358
17081983
17204494
17217069
17283055
17292589
17303584
18048422
18256307
18273441
18417208
18552856
18664456
18694932
18701462
18721488
18725310
18727244
18754774
18755075
19056867
19098310
19158352
19158373
19193631
19194729
19265036
19443633
19491093
19546223
19569180
19783969
19801576
19812035
19821056
19850920
19854836
19913121
19936001
20089835
20168298
20206434
20219615
20301424
20301743
20361981
20379614
20408813
20439752
20557879
20628086
20682256
20833712
20881056
20934246
20980620
21044049
21474446
21490950
21527521
21622852
21719175
21727210
21906983
21983717
22034641
22114106
22204817
22367170
22456092
22474326
22508176
22609445
22797727
22797919
22802962
22863349
23064961
23212942
23376035
23390129
23503467
23567275
23838289
23848298
23985799
24009235
24558196
24694054

Gene Ontology  (GO ID)

Biological Process

GO:0001658  branching involved in ureteric bud morphogenesis
GO:0070588  calcium ion transmembrane transport
GO:0006816  calcium ion transport
GO:0007050  cell cycle arrest
GO:0071498  cellular response to fluid shear stress
GO:0071464  cellular response to hydrostatic pressure
GO:0071470  cellular response to osmotic stress
GO:0034614  cellular response to reactive oxygen species
GO:0051298  centrosome duplication
GO:0042994  cytoplasmic sequestering of transcription factor
GO:0050982  detection of mechanical stimulus
GO:0003127  detection of nodal flow
GO:0007368  determination of left/right symmetry
GO:0001892  embryonic placenta development
GO:0007507  heart development
GO:0001947  heart looping
GO:0007259  JAK-STAT cascade
GO:0001889  liver development
GO:0008285  negative regulation of cell proliferation
GO:0060315  negative regulation of ryanodine-sensitive calcium-release channel activity
GO:0021915  neural tube development
GO:0060674  placenta blood vessel development
GO:0071158  positive regulation of cell cycle arrest
GO:0031659  positive regulation of cyclin-dependent protein kinase activity during G1/S
GO:0031587  positive regulation of inositol-1,4,5-trisphosphate receptor activity
GO:0045429  positive regulation of nitric oxide biosynthetic process
GO:0045944  positive regulation of transcription from RNA polymerase II promoter
GO:0030814  regulation of cAMP metabolic process
GO:0042127  regulation of cell proliferation
GO:0051209  release of sequestered calcium ion into cytosol
GO:0021510  spinal cord development

Cellular Component

GO:0045180  basal cortex
GO:0009925  basal plasma membrane
GO:0005911  cell-cell junction
GO:0005929  cilium
GO:0005737  cytoplasm
GO:0005783  endoplasmic reticulum
GO:0005789  endoplasmic reticulum membrane
GO:0031941  filamentous actin
GO:0071458  integral to cytosolic side of endoplasmic reticulum membrane
GO:0005887  integral to plasma membrane
GO:0030027  lamellipodium
GO:0005932  microtubule basal body
GO:0031512  motile primary cilium
GO:0031513  nonmotile primary cilium
GO:0005886  plasma membrane
GO:0002133  polycystin complex

Molecular Function

GO:0042805  actinin binding
GO:0051117  ATPase binding
GO:0005509  calcium ion binding
GO:0048763  calcium-induced calcium release activity
GO:0008092  cytoskeletal protein binding
GO:0043398  HLH domain binding
GO:0042802  identical protein binding
GO:0005267  potassium channel activity
GO:0005515  protein binding
GO:0042803  protein homodimerization activity
GO:0005102  receptor binding
GO:0005245  voltage-gated calcium channel activity
GO:0022843  voltage-gated cation channel activity
GO:0005244  voltage-gated ion channel activity
GO:0005248  voltage-gated sodium channel activity