ATP6V1G3

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'' and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This gene encodes one of three G subunit proteins. Transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1urate metabolic process (GO:0046415)9.24156639
2drug transmembrane transport (GO:0006855)9.20223822
3organic cation transport (GO:0015695)8.33188387
4drug transport (GO:0015893)8.05603675
5phosphate ion transport (GO:0006817)7.31505274
6lysine metabolic process (GO:0006553)7.09582408
7lysine catabolic process (GO:0006554)7.09582408
8excretion (GO:0007588)6.83495327
9quaternary ammonium group transport (GO:0015697)6.28369807
10glyoxylate metabolic process (GO:0046487)6.08339677
11phosphate ion transmembrane transport (GO:0035435)5.97724100
12response to mercury ion (GO:0046689)5.73482653
13renal absorption (GO:0070293)5.66249308
14cysteine metabolic process (GO:0006534)5.65135942
15metanephric nephron tubule development (GO:0072234)5.51619968
16metanephric tubule development (GO:0072170)5.51619968
17toxin transport (GO:1901998)5.49779592
18glycoside metabolic process (GO:0016137)5.36959337
19drug catabolic process (GO:0042737)5.30348598
20homocysteine metabolic process (GO:0050667)5.24830755
21vitamin D metabolic process (GO:0042359)5.24646843
22metanephric nephron epithelium development (GO:0072243)5.17166803
23trivalent inorganic anion homeostasis (GO:0072506)5.08894255
24phosphate ion homeostasis (GO:0055062)5.08894255
25exogenous drug catabolic process (GO:0042738)5.08551560
26tricarboxylic acid metabolic process (GO:0072350)5.02551728
27metanephric epithelium development (GO:0072207)4.86601059
28short-chain fatty acid metabolic process (GO:0046459)4.76000734
29fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.74776429
30nonribosomal peptide biosynthetic process (GO:0019184)4.64251529
31aspartate family amino acid catabolic process (GO:0009068)4.36811357
32polyol transport (GO:0015791)4.36560575
33nephron tubule development (GO:0072080)4.32515998
34tryptophan metabolic process (GO:0006568)4.29447581
35branched-chain amino acid metabolic process (GO:0009081)4.28952776
36amino-acid betaine transport (GO:0015838)4.24205972
37carnitine transport (GO:0015879)4.24205972
38indole-containing compound catabolic process (GO:0042436)4.20256766
39indolalkylamine catabolic process (GO:0046218)4.20256766
40tryptophan catabolic process (GO:0006569)4.20256766
41vitamin catabolic process (GO:0009111)4.10849193
42fat-soluble vitamin catabolic process (GO:0042363)4.10849193
43renal tubule development (GO:0061326)4.08293434
44pyrimidine ribonucleoside catabolic process (GO:0046133)4.02718179
45aromatic amino acid family catabolic process (GO:0009074)4.01020250
46fatty acid beta-oxidation (GO:0006635)3.92403139
47modified amino acid transport (GO:0072337)3.91626817
48valine metabolic process (GO:0006573)3.83110755
49response to magnesium ion (GO:0032026)3.78738582
50glutathione biosynthetic process (GO:0006750)3.76268320
51erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.74777318
52L-phenylalanine metabolic process (GO:0006558)3.74777318
53carnitine metabolic process (GO:0009437)3.66490592
54L-phenylalanine catabolic process (GO:0006559)3.63628000
55erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.63628000
56amino-acid betaine metabolic process (GO:0006577)3.61293576
57indole-containing compound metabolic process (GO:0042430)3.59918611
58daunorubicin metabolic process (GO:0044597)3.58906840
59polyketide metabolic process (GO:0030638)3.58906840
60doxorubicin metabolic process (GO:0044598)3.58906840
61nephron epithelium development (GO:0072009)3.57615493
62peptide catabolic process (GO:0043171)3.57568488
63branched-chain amino acid catabolic process (GO:0009083)3.53700868
64serine family amino acid metabolic process (GO:0009069)3.53476159
65fatty acid oxidation (GO:0019395)3.53225548
66lipid oxidation (GO:0034440)3.48842578
67aldehyde catabolic process (GO:0046185)3.48730140
68indolalkylamine metabolic process (GO:0006586)3.48496688
69cellular response to vitamin D (GO:0071305)3.47255764
70serine family amino acid catabolic process (GO:0009071)3.46997475
71proline metabolic process (GO:0006560)3.43862747
722-oxoglutarate metabolic process (GO:0006103)3.39807907
73NADH metabolic process (GO:0006734)3.35867298
74fructose metabolic process (GO:0006000)3.35084505
75peptide biosynthetic process (GO:0043043)3.34958002
76response to phenylpropanoid (GO:0080184)3.32124204
77regulation of apoptotic process involved in morphogenesis (GO:1902337)3.29970990
78nephron epithelium morphogenesis (GO:0072088)3.27704958
79nephron tubule morphogenesis (GO:0072078)3.27704958
80monocarboxylic acid catabolic process (GO:0072329)3.25518771
81polyol catabolic process (GO:0046174)3.22107329
82oligosaccharide catabolic process (GO:0009313)3.21883977
83cellular modified amino acid catabolic process (GO:0042219)3.20841731
84aromatic amino acid family metabolic process (GO:0009072)3.17250112
85fatty acid catabolic process (GO:0009062)3.16689127
86response to growth hormone (GO:0060416)3.16552401
87interferon-gamma production (GO:0032609)3.16125822
88sodium-independent organic anion transport (GO:0043252)3.12814466
89transepithelial transport (GO:0070633)3.07693563
90acetyl-CoA metabolic process (GO:0006084)3.04929149
91cellular ketone body metabolic process (GO:0046950)3.04873620
92calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.03992485
93glutathione metabolic process (GO:0006749)3.02381268
94sodium ion transport (GO:0006814)2.99693839
95sulfur compound transport (GO:0072348)2.94176156
96cytidine metabolic process (GO:0046087)2.93741079
97cytidine catabolic process (GO:0006216)2.93741079
98cytidine deamination (GO:0009972)2.93741079
99succinate metabolic process (GO:0006105)2.91700946
100aminoglycoside antibiotic metabolic process (GO:0030647)12.2993845

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CHD7_19251738_ChIP-ChIP_MESCs_Mouse3.01495389
2FLI1_27457419_Chip-Seq_LIVER_Mouse2.71192658
3GBX2_23144817_ChIP-Seq_PC3_Human2.62053056
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.54347254
5TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.53743683
6ESR1_21235772_ChIP-Seq_MCF-7_Human2.50611233
7PCGF2_27294783_Chip-Seq_ESCs_Mouse2.42586157
8RXR_22158963_ChIP-Seq_LIVER_Mouse2.27177968
9GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.23219956
10PIAS1_25552417_ChIP-Seq_VCAP_Human2.15769184
11* SUZ12_27294783_Chip-Seq_NPCs_Mouse2.12396720
12CDX2_19796622_ChIP-Seq_MESCs_Mouse2.02648705
13TAF15_26573619_Chip-Seq_HEK293_Human1.96895556
14BMI1_23680149_ChIP-Seq_NPCS_Mouse1.93763624
15* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.91248832
16TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.87586915
17* NFE2_27457419_Chip-Seq_LIVER_Mouse1.86626073
18LXR_22158963_ChIP-Seq_LIVER_Mouse1.84204486
19* EZH2_27294783_Chip-Seq_NPCs_Mouse1.75336556
20FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.72279110
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.70084884
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.70040347
23CDX2_20551321_ChIP-Seq_CACO-2_Human1.65309120
24SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.64985453
25EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.62608146
26PPARA_22158963_ChIP-Seq_LIVER_Mouse1.62287148
27ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60488722
28HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.59531880
29BP1_19119308_ChIP-ChIP_Hs578T_Human1.56514435
30EGR1_23403033_ChIP-Seq_LIVER_Mouse1.52962071
31* VDR_22108803_ChIP-Seq_LS180_Human1.51662735
32* OCT4_18555785_Chip-Seq_ESCs_Mouse1.45585596
33CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.44907938
34CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41871363
35SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.41014782
36RBPJ_22232070_ChIP-Seq_NCS_Mouse1.40515011
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.38683136
38EED_16625203_ChIP-ChIP_MESCs_Mouse1.38334474
39* KLF4_18555785_Chip-Seq_ESCs_Mouse1.36881547
40SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.36020774
41PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.35882883
42TOP2B_26459242_ChIP-Seq_MCF-7_Human1.35115167
43* CRX_20693478_ChIP-Seq_RETINA_Mouse1.33844318
44SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.30621709
45* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.30275764
46* ESRRB_18555785_Chip-Seq_ESCs_Mouse1.28106564
47RARG_19884340_ChIP-ChIP_MEFs_Mouse1.27590420
48* STAT3_18555785_Chip-Seq_ESCs_Mouse1.27271556
49TP53_18474530_ChIP-ChIP_U2OS_Human1.27127862
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.26615118
51* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.25858401
52ESR2_21235772_ChIP-Seq_MCF-7_Human1.24608256
53ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.24545169
54* P53_22387025_ChIP-Seq_ESCs_Mouse1.21790797
55MTF2_20144788_ChIP-Seq_MESCs_Mouse1.21773923
56ELF1_17652178_ChIP-ChIP_JURKAT_Human1.21222266
57* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.21187966
58* E2F1_18555785_Chip-Seq_ESCs_Mouse1.21139928
59PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.20873663
60RNF2_18974828_ChIP-Seq_MESCs_Mouse1.20824293
61EZH2_18974828_ChIP-Seq_MESCs_Mouse1.20824293
62* ZFX_18555785_Chip-Seq_ESCs_Mouse1.19720803
63BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.19604359
64STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.19297585
65* P300_19829295_ChIP-Seq_ESCs_Human1.19178989
66* P300_18555785_Chip-Seq_ESCs_Mouse1.18410691
67WT1_19549856_ChIP-ChIP_CCG9911_Human1.17757262
68EZH2_27304074_Chip-Seq_ESCs_Mouse1.17325435
69CDX2_22108803_ChIP-Seq_LS180_Human1.16559744
70STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.16531544
71* ER_23166858_ChIP-Seq_MCF-7_Human1.16313826
72* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.15343148
73* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.15282580
74SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.14780414
75* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.14363230
76* CTCF_18555785_Chip-Seq_ESCs_Mouse1.14220745
77* SOX2_18555785_Chip-Seq_ESCs_Mouse1.14174381
78* NMYC_18555785_Chip-Seq_ESCs_Mouse1.13648321
79* EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.13290681
80FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.13120094
81TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.13084404
82SUZ12_27294783_Chip-Seq_ESCs_Mouse1.12168198
83CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.11899190
84SMAD4_21799915_ChIP-Seq_A2780_Human1.11000966
85JARID2_20075857_ChIP-Seq_MESCs_Mouse1.10330832
86POU3F2_20337985_ChIP-ChIP_501MEL_Human1.09936347
87RNF2_27304074_Chip-Seq_NSC_Mouse1.09479882
88SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.08601046
89EZH2_27294783_Chip-Seq_ESCs_Mouse1.08199890
90* NANOG_18555785_Chip-Seq_ESCs_Mouse1.06307670
91STAT1_17558387_ChIP-Seq_HELA_Human1.05894083
92CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05531806
93GATA4_25053715_ChIP-Seq_YYC3_Human1.05167888
94* TCF4_22108803_ChIP-Seq_LS180_Human1.04934804
95* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.04669324
96* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.04579808
97CBX2_27304074_Chip-Seq_ESCs_Mouse1.03926251
98ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.03567823
99* VDR_24787735_ChIP-Seq_THP-1_Human1.03563939
100* PU1_27457419_Chip-Seq_LIVER_Mouse1.02813769

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004043_abnormal_pH_regulation6.54212457
2MP0005360_urolithiasis5.65758524
3MP0004019_abnormal_vitamin_homeostasis5.47318477
4MP0003195_calcinosis4.83582953
5MP0005332_abnormal_amino_acid4.32810320
6MP0009643_abnormal_urine_homeostasis3.94491892
7MP0001765_abnormal_ion_homeostasis3.86288959
8MP0002138_abnormal_hepatobiliary_system3.83797512
9MP0002139_abnormal_hepatobiliary_system3.47324619
10MP0005451_abnormal_body_composition3.39460521
11MP0001756_abnormal_urination3.16897727
12MP0005636_abnormal_mineral_homeostasis3.15245334
13MP0002136_abnormal_kidney_physiology3.09281110
14MP0003878_abnormal_ear_physiology2.62106435
15MP0005377_hearing/vestibular/ear_phenot2.62106435
16MP0008875_abnormal_xenobiotic_pharmacok2.11438534
17MP0001958_emphysema2.06853037
18MP0005084_abnormal_gallbladder_morpholo1.87559452
19MP0003186_abnormal_redox_activity1.87480873
20MP0004885_abnormal_endolymph1.85040356
21MP0005365_abnormal_bile_salt1.80654461
22MP0003724_increased_susceptibility_to1.80247822
23MP0003252_abnormal_bile_duct1.78912095
24MP0005085_abnormal_gallbladder_physiolo1.70740153
25MP0004147_increased_porphyrin_level1.65111940
26MP0005220_abnormal_exocrine_pancreas1.62037315
27MP0008961_abnormal_basal_metabolism1.59520078
28MP0000538_abnormal_urinary_bladder1.49140416
29MP0001984_abnormal_olfaction1.48975440
30MP0002876_abnormal_thyroid_physiology1.45951453
31MP0010234_abnormal_vibrissa_follicle1.45118457
32MP0002168_other_aberrant_phenotype1.29734393
33MP0010386_abnormal_urinary_bladder1.21237322
34MP0005058_abnormal_lysosome_morphology1.18736295
35MP0002796_impaired_skin_barrier1.16322118
36MP0002135_abnormal_kidney_morphology1.14086340
37MP0005584_abnormal_enzyme/coenzyme_acti1.13674536
38MP0002928_abnormal_bile_duct1.10894528
39MP0009764_decreased_sensitivity_to1.08602228
40MP0000230_abnormal_systemic_arterial1.07436848
41MP0005501_abnormal_skin_physiology1.01388374
42MP0009379_abnormal_foot_pigmentation1.01009324
43MP0001188_hyperpigmentation1.00736496
44MP0009384_cardiac_valve_regurgitation1.00220655
45MP0005394_taste/olfaction_phenotype0.98886564
46MP0005499_abnormal_olfactory_system0.98886564
47MP0001666_abnormal_nutrient_absorption0.97416162
48MP0005408_hypopigmentation0.96644534
49MP0001764_abnormal_homeostasis0.88337433
50MP0006036_abnormal_mitochondrial_physio0.86273313
51MP0005535_abnormal_body_temperature0.85295209
52MP0005248_abnormal_Harderian_gland0.84206842
53MP0003868_abnormal_feces_composition0.82671166
54MP0005083_abnormal_biliary_tract0.80569427
55MP0004782_abnormal_surfactant_physiolog0.80546036
56MP0009672_abnormal_birth_weight0.79641304
57MP0002098_abnormal_vibrissa_morphology0.79536616
58MP0002896_abnormal_bone_mineralization0.78814977
59MP0005395_other_phenotype0.75338664
60MP0005319_abnormal_enzyme/_coenzyme0.74890740
61MP0003300_gastrointestinal_ulcer0.74597693
62MP0005646_abnormal_pituitary_gland0.74496305
63MP0003959_abnormal_lean_body0.73406022
64MP0003638_abnormal_response/metabolism_0.72597092
65MP0003866_abnormal_defecation0.71667951
66MP0000490_abnormal_crypts_of0.63521418
67MP0004742_abnormal_vestibular_system0.63320743
68MP0005666_abnormal_adipose_tissue0.63189792
69MP0008789_abnormal_olfactory_epithelium0.61929193
70MP0008469_abnormal_protein_level0.61867075
71MP0009642_abnormal_blood_homeostasis0.61476270
72MP0002115_abnormal_skeleton_extremities0.61317711
73MP0005670_abnormal_white_adipose0.60263213
74MP0003941_abnormal_skin_development0.58602622
75MP0000678_abnormal_parathyroid_gland0.56982596
76MP0002998_abnormal_bone_remodeling0.56361064
77MP0000371_diluted_coat_color0.54779399
78MP0002118_abnormal_lipid_homeostasis0.50756234
79MP0005165_increased_susceptibility_to0.49137728
80MP0003795_abnormal_bone_structure0.46748301
81MP0001790_abnormal_immune_system0.45566257
82MP0005387_immune_system_phenotype0.45566257
83MP0002089_abnormal_postnatal_growth/wei0.44974276
84MP0001485_abnormal_pinna_reflex0.44548548
85MP0000163_abnormal_cartilage_morphology0.43598127
86MP0005334_abnormal_fat_pad0.43546299
87MP0000026_abnormal_inner_ear0.43525202
88MP0005174_abnormal_tail_pigmentation0.42262605
89MP0002069_abnormal_eating/drinking_beha0.41441102
90MP0001191_abnormal_skin_condition0.40678514
91MP0001879_abnormal_lymphatic_vessel0.40089201
92MP0001177_atelectasis0.38819114
93MP0003879_abnormal_hair_cell0.38403566
94MP0001963_abnormal_hearing_physiology0.38311156
95MP0010155_abnormal_intestine_physiology0.37999612
96MP0001845_abnormal_inflammatory_respons0.37823701
97MP0000534_abnormal_ureter_morphology0.37783746
98MP0002396_abnormal_hematopoietic_system0.36627637
99MP0001664_abnormal_digestion0.36153702
100MP0000383_abnormal_hair_follicle0.35150848

Predicted human phenotypes

RankGene SetZ-score
1Metabolic alkalosis (HP:0200114)8.07113269
2Increased circulating renin level (HP:0000848)7.87645847
3Hypokalemic alkalosis (HP:0001949)7.84333979
4Hypomagnesemia (HP:0002917)7.42853362
5Hyperactive renin-angiotensin system (HP:0000841)7.29679504
6Polyuria (HP:0000103)7.14933049
7Abnormal urine output (HP:0012590)6.65345837
8Abnormality of chloride homeostasis (HP:0011422)6.53811538
9Abnormality of magnesium homeostasis (HP:0004921)6.37552375
10Abnormality of renal excretion (HP:0011036)6.22714812
11Gout (HP:0001997)6.15305624
12Polydipsia (HP:0001959)5.80922613
13Abnormal drinking behavior (HP:0030082)5.80922613
14Tetany (HP:0001281)5.48058815
15Hyperaldosteronism (HP:0000859)5.39360874
16Proximal tubulopathy (HP:0000114)5.35510819
17Abnormality of renin-angiotensin system (HP:0000847)5.26448593
18Renal salt wasting (HP:0000127)5.08182832
19Alkalosis (HP:0001948)5.06906815
20Increased purine levels (HP:0004368)4.49752154
21Hyperuricemia (HP:0002149)4.49752154
22Generalized aminoaciduria (HP:0002909)4.29740917
23Hypokalemia (HP:0002900)4.16659612
24Hyperglycinuria (HP:0003108)4.03696551
25Hypercalciuria (HP:0002150)3.79775014
26Renal tubular acidosis (HP:0001947)3.76075420
27Abnormality of purine metabolism (HP:0004352)3.74909045
28Abnormality of glutamine family amino acid metabolism (HP:0010902)3.52328936
29Abnormality of potassium homeostasis (HP:0011042)3.35694994
30Dehydration (HP:0001944)3.24842362
31Abnormality of urine glucose concentration (HP:0011016)3.18972378
32Glycosuria (HP:0003076)3.18972378
33Abnormality of serine family amino acid metabolism (HP:0010894)3.04937075
34Abnormality of glycine metabolism (HP:0010895)3.04937075
35Ketoacidosis (HP:0001993)3.01141425
36Hyperphosphaturia (HP:0003109)2.87607907
37Nephrocalcinosis (HP:0000121)2.82355919
38Abnormal urine phosphate concentration (HP:0012599)2.78890002
39Abnormality of nucleobase metabolism (HP:0010932)2.75172089
40Abnormality of fatty-acid metabolism (HP:0004359)2.74249796
41Abnormality of sodium homeostasis (HP:0010931)2.71581287
42Hyponatremia (HP:0002902)2.68939158
43Delayed epiphyseal ossification (HP:0002663)2.56856093
44Enlarged kidneys (HP:0000105)2.52586072
45Widely patent fontanelles and sutures (HP:0004492)2.51498011
46Nephrolithiasis (HP:0000787)2.48465781
47Decreased circulating renin level (HP:0003351)2.43909006
48Ketosis (HP:0001946)2.41380452
49Tubulointerstitial fibrosis (HP:0005576)2.38183384
50Abnormality of aspartate family amino acid metabolism (HP:0010899)2.37848229
51Rickets (HP:0002748)2.37037827
52Hypophosphatemia (HP:0002148)2.36885697
53Tubular atrophy (HP:0000092)2.35818175
54Renal tubular dysfunction (HP:0000124)2.35343641
55Adrenal overactivity (HP:0002717)2.31935405
56Abnormality of renal resorption (HP:0011038)2.26804379
57Abnormality of the renal cortex (HP:0011035)2.24739540
58Vacuolated lymphocytes (HP:0001922)2.23705839
59Vomiting (HP:0002013)2.22850683
60Hyperglycinemia (HP:0002154)2.16554057
61Abnormality of proline metabolism (HP:0010907)2.12014572
62Hydroxyprolinuria (HP:0003080)2.12014572
63Bilateral sensorineural hearing impairment (HP:0008619)2.11130816
64Dicarboxylic aciduria (HP:0003215)2.10230972
65Abnormality of dicarboxylic acid metabolism (HP:0010995)2.10230972
66Neonatal onset (HP:0003623)2.09864038
67Vascular calcification (HP:0004934)2.05430066
68Metabolic acidosis (HP:0001942)2.00999246
69Renal cortical cysts (HP:0000803)1.97554980
70Facial shape deformation (HP:0011334)1.84954799
71Potter facies (HP:0002009)1.84954799
72Hyperammonemia (HP:0001987)1.77098332
73Abnormality of Sharpey fibers (HP:0100685)1.75604675
74Cardiovascular calcification (HP:0011915)1.75574643
75Abnormality of sulfur amino acid metabolism (HP:0004339)1.75378369
76Hypophosphatemic rickets (HP:0004912)1.73967118
77Metaphyseal cupping (HP:0003021)1.72454645
78Chondrocalcinosis (HP:0000934)1.72210341
79Delayed CNS myelination (HP:0002188)1.71251883
80Hypothermia (HP:0002045)1.71140999
81Tubulointerstitial abnormality (HP:0001969)1.70606982
82Metaphyseal irregularity (HP:0003025)1.67831774
83Bicornuate uterus (HP:0000813)1.67770827
84Thin bony cortex (HP:0002753)1.67397355
85Metaphyseal dysplasia (HP:0100255)1.63041487
86Lethargy (HP:0001254)1.62715882
87Hypotension (HP:0002615)1.62646836
88Methylmalonic aciduria (HP:0012120)1.60860823
89Generalized muscle weakness (HP:0003324)1.59067364
90Tachypnea (HP:0002789)1.54677403
91Malnutrition (HP:0004395)1.54264017
92Enlarged epiphyses (HP:0010580)1.53522870
93Confusion (HP:0001289)1.53471584
94Nausea (HP:0002018)1.52152871
95Abnormal enzyme/coenzyme activity (HP:0012379)1.51904687
96Decreased activity of mitochondrial respiratory chain (HP:0008972)1.50685534
97Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.50685534
98Glomerulosclerosis (HP:0000096)1.48897267
99Abnormality of aromatic amino acid family metabolism (HP:0004338)1.48808201
100Abnormality of the costochondral junction (HP:0000919)1.47905801

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK47.80101286
2WNK37.66189134
3OXSR17.05803658
4STK393.66628875
5SGK2232.23262588
6SGK4942.23262588
7TXK1.99052687
8SRPK11.98523841
9STK38L1.96274164
10SGK21.92229280
11MAP2K61.64927346
12BCKDK1.62038712
13SGK31.48752630
14SIK31.34910053
15DAPK21.32020594
16IRAK31.27794776
17MAP3K141.26015262
18WNK11.25500218
19MST41.18023197
20MYLK1.13275324
21GRK11.12892546
22NEK61.12483141
23PDK21.06141757
24MAP3K121.01169560
25MST1R0.95098311
26PDK30.87935565
27PDK40.87935565
28STK110.86299121
29PAK40.84575150
30PIK3CA0.82642739
31ACVR1B0.81298445
32IRAK20.74608697
33PINK10.71112998
34CASK0.69461369
35EIF2AK20.67839351
36STK380.66945727
37MAP3K70.62645296
38BMPR20.60656644
39RIPK40.60352345
40GSK3A0.58525380
41ADRBK20.58524997
42BCR0.58508726
43SIK10.58507094
44ZAK0.58384682
45PRKCI0.57971407
46SGK10.56741886
47IRAK10.56703044
48INSRR0.55285516
49MAP3K20.53743123
50FGFR40.52236395
51TRPM70.46365757
52ERBB40.45130247
53NEK90.44124665
54YES10.43589026
55EPHA40.42869616
56PRKCZ0.41172891
57IRAK40.40717294
58PRKCD0.39785175
59MAP4K10.37235855
60CAMKK20.36794365
61NEK10.36223227
62ERBB30.34278312
63PIK3CG0.33910777
64CAMK40.33311235
65MAP2K30.32511467
66PRKCG0.31516790
67TLK10.29869322
68DYRK1B0.29340924
69CAMK10.29232820
70IKBKE0.28310790
71PKN10.27105366
72PTK20.26889036
73NTRK30.26751726
74MAPK110.26656444
75MAP2K70.26467129
76PTK60.25961000
77PRKACA0.25818345
78OBSCN0.25785726
79MAP3K30.25765615
80PAK30.24577787
81PRKCA0.23152236
82CSNK1A10.22860278
83PRKCQ0.22591193
84NME10.22349109
85PRKCE0.21448121
86TNK20.19570239
87TIE10.19474897
88PRKAA10.18861401
89PRPF4B0.18798931
90MAPK120.18784073
91ABL20.17589369
92LYN0.16603420
93CHUK0.16450079
94TYK20.15819970
95FRK0.15562639
96GRK60.14934417
97PRKACG0.14684165
98MAPK40.13932354
99FER0.12312108
100EIF2AK10.12119706

Predicted pathways (KEGG)

RankGene SetZ-score
1Butanoate metabolism_Homo sapiens_hsa006503.89014755
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.62819941
3Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.30805831
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.22898931
5Propanoate metabolism_Homo sapiens_hsa006403.17518816
6Pentose and glucuronate interconversions_Homo sapiens_hsa000403.11500726
7Cyanoamino acid metabolism_Homo sapiens_hsa004603.00509839
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.86295726
9Peroxisome_Homo sapiens_hsa041462.82242003
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.77648812
11Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.56002192
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.51303612
13* Collecting duct acid secretion_Homo sapiens_hsa049662.47765289
14Fatty acid degradation_Homo sapiens_hsa000712.41762818
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.28963586
16beta-Alanine metabolism_Homo sapiens_hsa004102.15033348
17Tryptophan metabolism_Homo sapiens_hsa003802.13151303
18Pyruvate metabolism_Homo sapiens_hsa006202.07065839
19Vitamin digestion and absorption_Homo sapiens_hsa049772.02863970
20Sulfur metabolism_Homo sapiens_hsa009201.81681833
21Maturity onset diabetes of the young_Homo sapiens_hsa049501.73792343
22Fatty acid metabolism_Homo sapiens_hsa012121.66623596
23Glutathione metabolism_Homo sapiens_hsa004801.64313592
24Phenylalanine metabolism_Homo sapiens_hsa003601.60258286
25Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.52122371
26Carbon metabolism_Homo sapiens_hsa012001.48691296
27Mineral absorption_Homo sapiens_hsa049781.48163869
28Fatty acid elongation_Homo sapiens_hsa000621.43536976
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.38442595
30Other glycan degradation_Homo sapiens_hsa005111.37532129
31Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.37224168
32Starch and sucrose metabolism_Homo sapiens_hsa005001.30946358
33Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.28265780
34Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.26754045
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.25504525
36Drug metabolism - other enzymes_Homo sapiens_hsa009831.22936172
37Arginine and proline metabolism_Homo sapiens_hsa003301.22387171
38Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.22170430
39Bile secretion_Homo sapiens_hsa049761.20233974
40Protein digestion and absorption_Homo sapiens_hsa049741.19722560
41PPAR signaling pathway_Homo sapiens_hsa033201.05298512
42Primary bile acid biosynthesis_Homo sapiens_hsa001201.04972520
43* Oxidative phosphorylation_Homo sapiens_hsa001900.99421629
44Histidine metabolism_Homo sapiens_hsa003400.98405607
45Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.96021484
46Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.93116159
47Folate biosynthesis_Homo sapiens_hsa007900.91060237
48Lysine degradation_Homo sapiens_hsa003100.87415706
49Selenocompound metabolism_Homo sapiens_hsa004500.82195164
50Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.82054867
51Renin-angiotensin system_Homo sapiens_hsa046140.76533893
52Retinol metabolism_Homo sapiens_hsa008300.74999958
53Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.74261669
54Steroid hormone biosynthesis_Homo sapiens_hsa001400.73234191
55Fructose and mannose metabolism_Homo sapiens_hsa000510.66207789
56Pentose phosphate pathway_Homo sapiens_hsa000300.66089563
57Chemical carcinogenesis_Homo sapiens_hsa052040.65198984
58Arachidonic acid metabolism_Homo sapiens_hsa005900.64318944
59Glycerolipid metabolism_Homo sapiens_hsa005610.59336425
60Parkinsons disease_Homo sapiens_hsa050120.59188147
61* Metabolic pathways_Homo sapiens_hsa011000.58570422
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58166106
63Biosynthesis of amino acids_Homo sapiens_hsa012300.53851194
64Graft-versus-host disease_Homo sapiens_hsa053320.51199708
65Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.50589825
66Tyrosine metabolism_Homo sapiens_hsa003500.49718200
67Lysosome_Homo sapiens_hsa041420.46741110
68Thyroid hormone synthesis_Homo sapiens_hsa049180.46712346
69ABC transporters_Homo sapiens_hsa020100.42825061
70Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.42728035
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.42628198
72Carbohydrate digestion and absorption_Homo sapiens_hsa049730.40361351
73Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37738271
74Gastric acid secretion_Homo sapiens_hsa049710.34569792
75* Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.34354635
76* Rheumatoid arthritis_Homo sapiens_hsa053230.34348780
77Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29897800
78Cysteine and methionine metabolism_Homo sapiens_hsa002700.26736120
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.25486785
80* Vibrio cholerae infection_Homo sapiens_hsa051100.23303687
81Sphingolipid metabolism_Homo sapiens_hsa006000.20678775
82Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.20502352
83Leukocyte transendothelial migration_Homo sapiens_hsa046700.20390145
84Alzheimers disease_Homo sapiens_hsa050100.19713724
85Galactose metabolism_Homo sapiens_hsa000520.19025280
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.18391403
87Hedgehog signaling pathway_Homo sapiens_hsa043400.18350013
88Arginine biosynthesis_Homo sapiens_hsa002200.17396156
89Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.15834704
90Hepatitis C_Homo sapiens_hsa051600.15229756
91Cardiac muscle contraction_Homo sapiens_hsa042600.14982429
92One carbon pool by folate_Homo sapiens_hsa006700.13790497
93Sulfur relay system_Homo sapiens_hsa041220.12040927
94* Synaptic vesicle cycle_Homo sapiens_hsa047210.09853017
95Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.08713522
96Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.06285807
97Huntingtons disease_Homo sapiens_hsa050160.04214618
98Mismatch repair_Homo sapiens_hsa034300.03989339
99Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.03218234
100NF-kappa B signaling pathway_Homo sapiens_hsa040640.01743442

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