CA1

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: Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. This CA1 gene is closely linked to the CA2 and CA3 genes on chromosome 8. It encodes a cytosolic protein that is found at the highest level in erythrocytes. Allelic variants of this gene have been described in some populations. Alternative splicing and the use of alternative promoters results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1gas transport (GO:0015669)9.67818619
2tetrapyrrole biosynthetic process (GO:0033014)9.51714296
3porphyrin-containing compound metabolic process (GO:0006778)8.84376721
4erythrocyte maturation (GO:0043249)8.50162254
5heme metabolic process (GO:0042168)8.44112608
6antibacterial humoral response (GO:0019731)6.85261921
7erythrocyte development (GO:0048821)6.58591666
8antimicrobial humoral response (GO:0019730)6.28758976
9innate immune response in mucosa (GO:0002227)6.01229104
10killing of cells of other organism (GO:0031640)5.70184435
11disruption of cells of other organism (GO:0044364)5.70184435
12defense response to fungus (GO:0050832)5.56660746
13tetrapyrrole metabolic process (GO:0033013)5.56597179
14negative regulation of erythrocyte differentiation (GO:0045647)5.56137399
15* bicarbonate transport (GO:0015701)5.00182281
16hydrogen peroxide catabolic process (GO:0042744)4.99093517
17mucosal immune response (GO:0002385)4.85516058
18response to methylmercury (GO:0051597)4.85083964
19myeloid cell development (GO:0061515)4.80673582
20regulation of response to osmotic stress (GO:0047484)4.78711351
21organ or tissue specific immune response (GO:0002251)4.52278979
22granulocyte differentiation (GO:0030851)4.40068670
23pigment biosynthetic process (GO:0046148)4.29347974
24embryonic hemopoiesis (GO:0035162)4.24150014
25erythrocyte differentiation (GO:0030218)4.17176601
26positive regulation of granulocyte differentiation (GO:0030854)4.13994607
27pigment metabolic process (GO:0042440)4.01093495
28iron ion import (GO:0097286)3.97633196
29response to fungus (GO:0009620)3.92876749
30deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.88845232
31regulation of erythrocyte differentiation (GO:0045646)3.73306041
32intracellular estrogen receptor signaling pathway (GO:0030520)3.64147978
33glycine transport (GO:0015816)3.56765761
34hydrogen peroxide metabolic process (GO:0042743)3.50547701
35definitive hemopoiesis (GO:0060216)3.46446650
36response to insecticide (GO:0017085)3.46109962
37positive regulation of megakaryocyte differentiation (GO:0045654)3.44826682
38cellular response to thyroid hormone stimulus (GO:0097067)3.37599480
39potassium ion export (GO:0071435)3.22942952
40disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.21833882
41killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.21833882
42deoxyribose phosphate biosynthetic process (GO:0046385)3.21694154
432-deoxyribonucleotide biosynthetic process (GO:0009265)3.21694154
44positive regulation of erythrocyte differentiation (GO:0045648)3.21635981
45platelet formation (GO:0030220)3.20823783
46superoxide anion generation (GO:0042554)3.18862842
47positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.16914705
48response to lead ion (GO:0010288)3.14473589
49megakaryocyte development (GO:0035855)3.12068673
50detection of bacterium (GO:0016045)3.11821838
51positive regulation of hematopoietic progenitor cell differentiation (GO:1901534)3.00098346
52response to arsenic-containing substance (GO:0046685)2.97853215
53detection of other organism (GO:0098543)2.95424843
54DNA topological change (GO:0006265)2.91871254
55actin filament capping (GO:0051693)2.86476421
56cell killing (GO:0001906)2.86345681
57pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.85535453
58positive regulation of bone remodeling (GO:0046852)2.84897402
59positive regulation of bone resorption (GO:0045780)2.84897402
60positive regulation of B cell differentiation (GO:0045579)2.84743847
61cofactor biosynthetic process (GO:0051188)2.84274069
62renal absorption (GO:0070293)2.79004551
63defense response to Gram-positive bacterium (GO:0050830)2.78706504
64regulation of granulocyte differentiation (GO:0030852)2.78360530
65positive regulation of cellular response to oxidative stress (GO:1900409)2.75933630
66positive regulation of response to oxidative stress (GO:1902884)2.75933630
67sulfate transmembrane transport (GO:1902358)2.75078073
68hemopoiesis (GO:0030097)2.72516885
69response to thyroid hormone (GO:0097066)2.70115007
70response to peptidoglycan (GO:0032494)2.69557692
71membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.68930150
72one-carbon compound transport (GO:0019755)2.67866895
73regulation of natural killer cell differentiation (GO:0032823)2.65703423
74very-low-density lipoprotein particle assembly (GO:0034379)2.64887466
75imidazole-containing compound metabolic process (GO:0052803)2.64568369
76neutrophil activation (GO:0042119)2.61672339
77neutrophil activation involved in immune response (GO:0002283)2.61155357
78viral mRNA export from host cell nucleus (GO:0046784)2.60271269
79pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.58211977
80deoxyribonucleotide biosynthetic process (GO:0009263)2.54953412
81citrulline biosynthetic process (GO:0019240)2.49231421
82regulation of interleukin-8 biosynthetic process (GO:0045414)2.48128137
83negative regulation of viral entry into host cell (GO:0046597)2.46667997
84modulation of growth of symbiont involved in interaction with host (GO:0044144)2.45599680
85regulation of growth of symbiont in host (GO:0044126)2.45599680
86negative regulation of growth of symbiont in host (GO:0044130)2.45599680
87negative regulation of growth of symbiont involved in interaction with host (GO:0044146)2.45599680
88regulation of histone H3-K9 methylation (GO:0051570)2.41766543
89sulfate transport (GO:0008272)2.40163363
903-UTR-mediated mRNA stabilization (GO:0070935)2.39556491
91granulocyte activation (GO:0036230)2.35561360
92cellular response to arsenic-containing substance (GO:0071243)2.34915695
93proteasome assembly (GO:0043248)2.34751084
94nucleoside diphosphate biosynthetic process (GO:0009133)2.33755651
95protoporphyrinogen IX metabolic process (GO:0046501)14.2533406
96protoporphyrinogen IX biosynthetic process (GO:0006782)12.9853684
97oxygen transport (GO:0015671)11.0560305
98hemoglobin metabolic process (GO:0020027)10.8285796
99porphyrin-containing compound biosynthetic process (GO:0006779)10.7296454
100heme biosynthetic process (GO:0006783)10.1365051

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA1_22025678_ChIP-Seq_K562_Human8.27275100
2E2F7_22180533_ChIP-Seq_HELA_Human5.76701864
3* GATA1_19941826_ChIP-Seq_K562_Human5.14351248
4EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse4.24793105
5SCL_19346495_ChIP-Seq_HPC-7_Human3.87234614
6* GATA2_19941826_ChIP-Seq_K562_Human3.25798836
7TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse2.97191960
8GATA1_19941827_ChIP-Seq_MEL_Mouse2.76302303
9FOXM1_23109430_ChIP-Seq_U2OS_Human2.59852962
10GATA1_22383799_ChIP-Seq_G1ME_Mouse2.36007488
11VDR_21846776_ChIP-Seq_THP-1_Human2.32969825
12KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse2.28722177
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.27984072
14GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.94100881
15SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.91798343
16MYB_21317192_ChIP-Seq_ERMYB_Mouse1.91721638
17CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.81783914
18E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.78340773
19VDR_24763502_ChIP-Seq_THP-1_Human1.69508469
20MYC_22102868_ChIP-Seq_BL_Human1.67800908
21E2F4_17652178_ChIP-ChIP_JURKAT_Human1.67359888
22PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.64579385
23AR_21909140_ChIP-Seq_LNCAP_Human1.63459274
24ELF1_17652178_ChIP-ChIP_JURKAT_Human1.61772310
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.60742951
26NCOR1_26117541_ChIP-Seq_K562_Human1.57988961
27SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.55165693
28GATA2_22383799_ChIP-Seq_G1ME_Mouse1.52583208
29SPI1_23547873_ChIP-Seq_NB4_Human1.50231438
30TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.47066980
31RUNX1_22412390_ChIP-Seq_EML_Mouse1.44697700
32RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.41345289
33ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.37764889
34LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.37710706
35SRF_21415370_ChIP-Seq_HL-1_Mouse1.34229549
36IRF8_22096565_ChIP-ChIP_GC-B_Human1.34131471
37SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.33069686
38TCF7_22412390_ChIP-Seq_EML_Mouse1.32112496
39NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.25877319
40GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.24188700
41BRD4_27068464_Chip-Seq_AML-cells_Mouse1.24009378
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.23946878
43ELF1_20517297_ChIP-Seq_JURKAT_Human1.23072811
44MAF_26560356_Chip-Seq_TH1_Human1.22612018
45BCOR_27268052_Chip-Seq_Bcells_Human1.21793518
46E2F1_21310950_ChIP-Seq_MCF-7_Human1.21473178
47THAP11_20581084_ChIP-Seq_MESCs_Mouse1.21418996
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.18265398
49SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.18149386
50MYC_18358816_ChIP-ChIP_MESCs_Mouse1.17338785
51MYC_18555785_ChIP-Seq_MESCs_Mouse1.16610750
52MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.15810990
53KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.15324101
54FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.14450433
55* BCL6_27268052_Chip-Seq_Bcells_Human1.13988826
56UTX_26944678_Chip-Seq_JUKART_Human1.13052337
57KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.11238084
58IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.10382782
59HOXB4_20404135_ChIP-ChIP_EML_Mouse1.09280519
60MYB_26560356_Chip-Seq_TH2_Human1.08282560
61SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.07531849
62BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.05097386
63NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.03796445
64SPI1_23127762_ChIP-Seq_K562_Human1.03729869
65* MYB_26560356_Chip-Seq_TH1_Human1.03447018
66SOX2_27498859_Chip-Seq_STOMACH_Mouse1.03341939
67ZNF263_19887448_ChIP-Seq_K562_Human1.03200810
68HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.02604971
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.02553923
70SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.00967127
71DCP1A_22483619_ChIP-Seq_HELA_Human1.00453329
72ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.99828186
73BP1_19119308_ChIP-ChIP_Hs578T_Human0.98444650
74CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.97491873
75NELFA_20434984_ChIP-Seq_ESCs_Mouse0.97178591
76RXR_22158963_ChIP-Seq_LIVER_Mouse0.95282296
77CTCF_27219007_Chip-Seq_ERYTHROID_Human0.93873729
78JARID1A_20064375_ChIP-Seq_MESCs_Mouse0.92308113
79MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.92022979
80P68_20966046_ChIP-Seq_HELA_Human0.90767452
81ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.90390286
82KDM5A_27292631_Chip-Seq_BREAST_Human0.90214077
83CTCF_21964334_Chip-Seq_Bcells_Human0.89757001
84E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.89494962
85STAT4_19710469_ChIP-ChIP_TH1__Mouse0.89177398
86GATA6_25053715_ChIP-Seq_YYC3_Human0.88924626
87CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.88474571
88FOXP3_21729870_ChIP-Seq_TREG_Human0.88256277
89CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.87545843
90TFEB_21752829_ChIP-Seq_HELA_Human0.86451850
91PHF8_20622854_ChIP-Seq_HELA_Human0.85807499
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.85673306
93EGR1_19374776_ChIP-ChIP_THP-1_Human0.84616230
94PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84565762
95ETS1_22383799_ChIP-Seq_G1ME_Mouse0.84452854
96CTCF_21964334_ChIP-Seq_BJAB-B_Human0.84044222
97EST1_17652178_ChIP-ChIP_JURKAT_Human0.84017349
98IRF8_27001747_Chip-Seq_BMDM_Mouse0.83989634
99RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83895804
100E2F1_18555785_ChIP-Seq_MESCs_Mouse0.83794524

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo8.68993256
2MP0001545_abnormal_hematopoietic_system3.73989054
3MP0005397_hematopoietic_system_phenotyp3.73989054
4MP0005083_abnormal_biliary_tract3.56668212
5MP0005636_abnormal_mineral_homeostasis2.81639960
6MP0002396_abnormal_hematopoietic_system2.53888785
7MP0003303_peritoneal_inflammation2.41615557
8MP0002132_abnormal_respiratory_system2.05263197
9MP0003186_abnormal_redox_activity2.01221858
10MP0004147_increased_porphyrin_level10.1875621
11MP0002009_preneoplasia1.92713654
12MP0009278_abnormal_bone_marrow1.85010403
13MP0005464_abnormal_platelet_physiology1.74191904
14MP0003111_abnormal_nucleus_morphology1.63865939
15MP0006036_abnormal_mitochondrial_physio1.51644463
16MP0002139_abnormal_hepatobiliary_system1.49499926
17MP0000490_abnormal_crypts_of1.49057533
18MP0005025_abnormal_response_to1.48851498
19MP0003866_abnormal_defecation1.48613246
20MP0002398_abnormal_bone_marrow1.45644263
21MP0003045_fibrosis1.40168203
22MP0009785_altered_susceptibility_to1.37039550
23MP0001663_abnormal_digestive_system1.34862818
24MP0000465_gastrointestinal_hemorrhage1.34421828
25MP0003693_abnormal_embryo_hatching1.33978697
26MP0009333_abnormal_splenocyte_physiolog1.30874243
27MP0000689_abnormal_spleen_morphology1.30109950
28MP0002722_abnormal_immune_system1.29931579
29MP0003191_abnormal_cellular_cholesterol1.22526929
30MP0003806_abnormal_nucleotide_metabolis1.22206230
31MP0003436_decreased_susceptibility_to1.21445422
32MP0009931_abnormal_skin_appearance1.19249910
33MP0002166_altered_tumor_susceptibility1.18741614
34MP0001529_abnormal_vocalization1.18574059
35MP0008260_abnormal_autophagy1.14154861
36MP0003172_abnormal_lysosome_physiology1.13480781
37MP0002429_abnormal_blood_cell1.11424596
38MP0000015_abnormal_ear_pigmentation1.06614403
39MP0009764_decreased_sensitivity_to1.06420404
40MP0002419_abnormal_innate_immunity1.04960905
41MP0000609_abnormal_liver_physiology1.03494167
42MP0005075_abnormal_melanosome_morpholog1.03202879
43MP0001664_abnormal_digestion1.02930780
44MP0004808_abnormal_hematopoietic_stem1.02930145
45MP0005381_digestive/alimentary_phenotyp0.96644043
46MP0004145_abnormal_muscle_electrophysio0.96051870
47MP0010094_abnormal_chromosome_stability0.94938916
48MP0002095_abnormal_skin_pigmentation0.93088468
49MP0001765_abnormal_ion_homeostasis0.90917947
50MP0008872_abnormal_physiological_respon0.89347710
51MP0004957_abnormal_blastocyst_morpholog0.88977317
52MP0001873_stomach_inflammation0.88097477
53MP0010155_abnormal_intestine_physiology0.87749897
54MP0003300_gastrointestinal_ulcer0.86232972
55MP0008775_abnormal_heart_ventricle0.84880363
56MP0002420_abnormal_adaptive_immunity0.82958055
57MP0000313_abnormal_cell_death0.82208233
58MP0001819_abnormal_immune_cell0.82065100
59MP0002405_respiratory_system_inflammati0.81599838
60MP0003077_abnormal_cell_cycle0.81348175
61MP0000477_abnormal_intestine_morphology0.78123951
62MP0008057_abnormal_DNA_replication0.77473913
63MP0005451_abnormal_body_composition0.77209956
64MP0000716_abnormal_immune_system0.77146290
65MP0005319_abnormal_enzyme/_coenzyme0.76825745
66MP0003763_abnormal_thymus_physiology0.76504728
67MP0009765_abnormal_xenobiotic_induced0.76324172
68MP0004264_abnormal_extraembryonic_tissu0.75247645
69MP0000703_abnormal_thymus_morphology0.74468399
70MP0002019_abnormal_tumor_incidence0.73456371
71MP0000598_abnormal_liver_morphology0.73318280
72MP0004043_abnormal_pH_regulation0.72624739
73MP0002006_tumorigenesis0.72191911
74MP0009643_abnormal_urine_homeostasis0.71947726
75MP0002877_abnormal_melanocyte_morpholog0.71454268
76MP0003724_increased_susceptibility_to0.71333738
77MP0000685_abnormal_immune_system0.69747098
78MP0008789_abnormal_olfactory_epithelium0.69388247
79MP0008058_abnormal_DNA_repair0.69144996
80MP0010307_abnormal_tumor_latency0.66694647
81MP0005501_abnormal_skin_physiology0.65874505
82MP0002138_abnormal_hepatobiliary_system0.65535865
83MP0001800_abnormal_humoral_immune0.64980076
84MP0002452_abnormal_antigen_presenting0.63942754
85MP0006035_abnormal_mitochondrial_morpho0.61545158
86MP0005000_abnormal_immune_tolerance0.61363072
87MP0001845_abnormal_inflammatory_respons0.59667688
88MP0010352_gastrointestinal_tract_polyps0.58808851
89MP0001764_abnormal_homeostasis0.58801914
90MP0005076_abnormal_cell_differentiation0.58608196
91MP0005647_abnormal_sex_gland0.57411952
92MP0002723_abnormal_immune_serum0.54991116
93MP0004947_skin_inflammation0.54460209
94MP0005058_abnormal_lysosome_morphology0.54350993
95MP0008469_abnormal_protein_level0.52800347
96MP0004185_abnormal_adipocyte_glucose0.52168707
97MP0001849_ear_inflammation0.51988720
98MP0009763_increased_sensitivity_to0.50202673
99MP0005085_abnormal_gallbladder_physiolo0.49842999
100MP0002080_prenatal_lethality0.49705946

Predicted human phenotypes

RankGene SetZ-score
1Poikilocytosis (HP:0004447)8.08135922
2Polycythemia (HP:0001901)7.05011201
3Reticulocytosis (HP:0001923)6.82934687
4Microcytic anemia (HP:0001935)5.90972706
5Acanthocytosis (HP:0001927)5.64805772
6Hypochromic anemia (HP:0001931)5.54492288
7Cholelithiasis (HP:0001081)5.49213934
8Abnormal hemoglobin (HP:0011902)5.47469912
9Paralysis (HP:0003470)5.28780770
10Abnormal gallbladder morphology (HP:0012437)4.94483227
11Abnormality of reticulocytes (HP:0004312)4.56430614
12Abnormality of iron homeostasis (HP:0011031)4.44028332
13Ileus (HP:0002595)4.26186416
14Hyperbilirubinemia (HP:0002904)4.12515958
15Abnormal number of erythroid precursors (HP:0012131)4.03401590
16Abnormality of transition element cation homeostasis (HP:0011030)3.99143685
17Prolonged bleeding time (HP:0003010)3.96429455
18Toxemia of pregnancy (HP:0100603)3.89732057
19Petechiae (HP:0000967)3.78861251
20Hyperactive renin-angiotensin system (HP:0000841)3.70508425
21Cerebral palsy (HP:0100021)3.67069039
22Abnormality of the gallbladder (HP:0005264)3.62340910
23Abnormality of cells of the erythroid lineage (HP:0012130)3.59920625
24Diaphragmatic weakness (HP:0009113)3.56492111
25Hyponatremia (HP:0002902)3.47807459
26Cholecystitis (HP:0001082)3.40288499
27Abnormal gallbladder physiology (HP:0012438)3.40288499
28Increased serum ferritin (HP:0003281)3.21582833
29Pallor (HP:0000980)3.07407033
30Metabolic alkalosis (HP:0200114)3.00274176
31Abnormality of sodium homeostasis (HP:0010931)2.90455495
32Cutaneous photosensitivity (HP:0000992)2.79388972
33Visual hallucinations (HP:0002367)2.68769509
34Epistaxis (HP:0000421)2.63462212
35Ventricular fibrillation (HP:0001663)2.49190229
36Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.41642459
37Abnormality of chloride homeostasis (HP:0011422)2.38817748
38Nonimmune hydrops fetalis (HP:0001790)2.35340990
39Abnormality of renin-angiotensin system (HP:0000847)2.33673541
40Abnormal platelet function (HP:0011869)2.30795296
41Impaired platelet aggregation (HP:0003540)2.30795296
42Nausea (HP:0002018)2.22101082
43Hepatocellular carcinoma (HP:0001402)2.18533911
44Decreased circulating renin level (HP:0003351)2.13469649
45Abnormality of dental color (HP:0011073)2.10716053
46Flat acetabular roof (HP:0003180)2.03335187
47Recurrent abscess formation (HP:0002722)2.01042663
48Abnormal platelet volume (HP:0011876)2.01021532
49Abnormality of the heme biosynthetic pathway (HP:0010472)14.5571545
50Hypochromic microcytic anemia (HP:0004840)10.1040712
51Osteomyelitis (HP:0002754)1.96885351
52Increased mean platelet volume (HP:0011877)1.95487710
53Eczematoid dermatitis (HP:0000976)1.94723728
54Insomnia (HP:0100785)1.94697925
55Thrombophlebitis (HP:0004418)1.93711536
56Flat capital femoral epiphysis (HP:0003370)1.92027737
57Onycholysis (HP:0001806)1.90851713
58Short middle phalanx of the 5th finger (HP:0004220)1.90710349
59Spontaneous hematomas (HP:0007420)1.86158181
60Increased density of long bones (HP:0006392)1.85689794
61Urticaria (HP:0001025)1.83470931
62Hepatosplenomegaly (HP:0001433)1.80957386
63Renal tubular acidosis (HP:0001947)1.80438458
64Flattened epiphyses (HP:0003071)1.79140699
65Osteomalacia (HP:0002749)1.77939208
66Recurrent bacterial skin infections (HP:0005406)1.77329564
67Hypoparathyroidism (HP:0000829)1.74469609
68Gingival bleeding (HP:0000225)1.67122353
69Gastrointestinal infarctions (HP:0005244)1.66940695
70Palpitations (HP:0001962)1.66712225
71Irregular epiphyses (HP:0010582)1.66414127
72Hyperaldosteronism (HP:0000859)1.65768914
73Alkalosis (HP:0001948)1.63372603
74Gastrointestinal dysmotility (HP:0002579)1.62564850
75Long clavicles (HP:0000890)1.61933536
76Abnormal delayed hypersensitivity skin test (HP:0002963)1.61138742
77Skin rash (HP:0000988)1.58131002
78Abnormality of the fingertips (HP:0001211)1.57751347
79Neoplasm of the liver (HP:0002896)1.57257040
80Paresthesia (HP:0003401)1.55859274
81Hypertensive crisis (HP:0100735)1.51681064
82Abnormality of renal resorption (HP:0011038)1.48569700
83Visceral angiomatosis (HP:0100761)1.45603923
84Cellulitis (HP:0100658)1.40527777
85Bone marrow hypocellularity (HP:0005528)1.39999878
86Hematochezia (HP:0002573)1.38989234
87Splenomegaly (HP:0001744)1.38525990
88Hypertriglyceridemia (HP:0002155)1.38155854
89Recurrent viral infections (HP:0004429)1.35986656
90Inflammation of the large intestine (HP:0002037)1.34520675
91Panhypogammaglobulinemia (HP:0003139)1.34129670
92Pustule (HP:0200039)1.33936958
93Birth length less than 3rd percentile (HP:0003561)1.33220378
94Abnormality of dicarboxylic acid metabolism (HP:0010995)1.33216519
95Dicarboxylic aciduria (HP:0003215)1.33216519
96Gastrointestinal inflammation (HP:0004386)1.33007767
97Gingivitis (HP:0000230)1.32632772
98Prenatal maternal abnormality (HP:0002686)1.32198830
99Abnormality of T cell physiology (HP:0011840)1.32190438
100Postural instability (HP:0002172)1.31533456

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EIF2AK17.28252361
2PRPF4B4.08121390
3MAP3K113.40629504
4MAP2K33.19790979
5TAOK23.11747177
6TAOK12.96453059
7NEK12.76470373
8GRK62.58224968
9PIK3CA2.53759193
10SCYL22.41340107
11PIM22.32884423
12RIPK42.13126479
13TESK21.92164955
14PIM11.68933787
15MAP3K31.67542427
16NEK21.59548509
17ACVR1B1.51478711
18CLK11.35843242
19MAP3K51.34084957
20RAF11.33025130
21SYK1.32291000
22TEC1.31131628
23BTK1.29816178
24MAP3K11.27294567
25DYRK31.26573652
26BMX1.15247007
27BUB11.14847070
28NUAK11.14381362
29JAK21.08465029
30PLK41.04465606
31TNK21.03740061
32ERN11.01427072
33TYK20.99033771
34WNK10.95749046
35SMG10.93317610
36LYN0.90118202
37MARK30.89700096
38TRPM70.86269888
39MAP4K10.85777384
40VRK20.79986371
41RPS6KA50.77140246
42ABL20.77077908
43MAP3K100.76395925
44LMTK20.76163716
45ZAK0.74019325
46IRAK40.71559742
47STK40.71550973
48PLK10.70859849
49MAP3K80.70578503
50HIPK20.67934902
51KDR0.67859360
52FGR0.67644019
53FES0.67581087
54MAP2K10.66501849
55MST40.65361496
56MATK0.65277595
57MAP2K20.63921672
58ZAP700.60356204
59RPS6KC10.60205150
60RPS6KL10.60205150
61JAK30.60036528
62BLK0.59449333
63PLK30.58005156
64MAP3K60.56396736
65PTK2B0.56058995
66CDC70.55542806
67EIF2AK30.53894840
68RPS6KA60.53793139
69NME20.49454412
70RPS6KA40.46870638
71CDK40.46724933
72BRSK20.46390668
73VRK10.45023907
74PRKAA20.44207346
75PRKACG0.43637921
76MAP2K40.41516946
77GRK50.41317159
78MAP4K20.39585370
79CCNB10.39045883
80MAPK40.38088893
81TAOK30.37148067
82AURKB0.37041829
83RIPK10.36734865
84PTK60.35139842
85TTK0.33644200
86MAP3K120.33482122
87MAPK30.33315283
88CHEK10.32557301
89MAPK110.30390119
90PDPK10.30311208
91ITK0.29993477
92KIT0.29391162
93CSNK2A10.28243232
94BRSK10.27315849
95AKT10.27258595
96IKBKE0.26951463
97ATM0.26911715
98HCK0.26679862
99PRKCQ0.25959781
100CSNK2A20.25528466

Predicted pathways (KEGG)

RankGene SetZ-score
1Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008607.09909147
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.96188867
3* Nitrogen metabolism_Homo sapiens_hsa009103.76720708
4Malaria_Homo sapiens_hsa051443.37153921
5Sulfur metabolism_Homo sapiens_hsa009202.98430539
6DNA replication_Homo sapiens_hsa030302.72470412
7African trypanosomiasis_Homo sapiens_hsa051432.64848111
8Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.24082975
9Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.23353290
10Base excision repair_Homo sapiens_hsa034102.04780399
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.00054410
12Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.83544479
13Mismatch repair_Homo sapiens_hsa034301.62400320
14Sulfur relay system_Homo sapiens_hsa041221.58441667
15Hematopoietic cell lineage_Homo sapiens_hsa046401.56545051
16Fatty acid elongation_Homo sapiens_hsa000621.49978054
17Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.49491997
18Asthma_Homo sapiens_hsa053101.45062945
19Mineral absorption_Homo sapiens_hsa049781.28875960
20Cell cycle_Homo sapiens_hsa041101.28012319
21Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.24497477
22Non-homologous end-joining_Homo sapiens_hsa034501.11758896
23Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.10197269
24Acute myeloid leukemia_Homo sapiens_hsa052211.08166694
25Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.07522356
26Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.05063272
27Collecting duct acid secretion_Homo sapiens_hsa049661.02704526
28Pyrimidine metabolism_Homo sapiens_hsa002401.01558153
29Drug metabolism - other enzymes_Homo sapiens_hsa009831.01554324
30Carbon metabolism_Homo sapiens_hsa012000.99750468
31Fatty acid metabolism_Homo sapiens_hsa012120.98029891
32Glycerophospholipid metabolism_Homo sapiens_hsa005640.97952022
33Fanconi anemia pathway_Homo sapiens_hsa034600.96022676
34Nucleotide excision repair_Homo sapiens_hsa034200.92037824
35Fatty acid degradation_Homo sapiens_hsa000710.92010458
36Regulation of autophagy_Homo sapiens_hsa041400.89053403
37Propanoate metabolism_Homo sapiens_hsa006400.85250375
38Caffeine metabolism_Homo sapiens_hsa002320.85101627
39Homologous recombination_Homo sapiens_hsa034400.83394205
40Non-small cell lung cancer_Homo sapiens_hsa052230.81129010
41Pyruvate metabolism_Homo sapiens_hsa006200.80083560
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.79623290
43Herpes simplex infection_Homo sapiens_hsa051680.77824558
44Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.77532820
45Maturity onset diabetes of the young_Homo sapiens_hsa049500.76175230
46Chronic myeloid leukemia_Homo sapiens_hsa052200.74808730
47Hepatitis C_Homo sapiens_hsa051600.73316367
48Transcriptional misregulation in cancer_Homo sapiens_hsa052020.72934605
49Pancreatic secretion_Homo sapiens_hsa049720.70364824
50Osteoclast differentiation_Homo sapiens_hsa043800.70096836
51Leishmaniasis_Homo sapiens_hsa051400.70035006
52Adipocytokine signaling pathway_Homo sapiens_hsa049200.66824176
53Apoptosis_Homo sapiens_hsa042100.64305716
54Purine metabolism_Homo sapiens_hsa002300.63627188
55Pancreatic cancer_Homo sapiens_hsa052120.61056352
56ABC transporters_Homo sapiens_hsa020100.60990795
57Bladder cancer_Homo sapiens_hsa052190.60074343
58Platelet activation_Homo sapiens_hsa046110.59609388
59Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.58453660
60Systemic lupus erythematosus_Homo sapiens_hsa053220.57360260
61Hepatitis B_Homo sapiens_hsa051610.55499368
62Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55255368
63Pentose phosphate pathway_Homo sapiens_hsa000300.54984200
64Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.54945731
65Peroxisome_Homo sapiens_hsa041460.54411941
66One carbon pool by folate_Homo sapiens_hsa006700.52060624
67Glutathione metabolism_Homo sapiens_hsa004800.51681205
68Bile secretion_Homo sapiens_hsa049760.47688113
69Viral carcinogenesis_Homo sapiens_hsa052030.47574145
70Spliceosome_Homo sapiens_hsa030400.47169952
71Jak-STAT signaling pathway_Homo sapiens_hsa046300.46029296
72Leukocyte transendothelial migration_Homo sapiens_hsa046700.45621418
73Steroid hormone biosynthesis_Homo sapiens_hsa001400.45569334
74Other glycan degradation_Homo sapiens_hsa005110.44670302
752-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.43741356
76B cell receptor signaling pathway_Homo sapiens_hsa046620.43725195
77Fructose and mannose metabolism_Homo sapiens_hsa000510.41654222
78Tuberculosis_Homo sapiens_hsa051520.41139322
79Thyroid cancer_Homo sapiens_hsa052160.40217247
80Butanoate metabolism_Homo sapiens_hsa006500.39572361
81Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.37301714
82Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36825582
83N-Glycan biosynthesis_Homo sapiens_hsa005100.36544231
84Metabolic pathways_Homo sapiens_hsa011000.35767678
85Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.34939689
86Starch and sucrose metabolism_Homo sapiens_hsa005000.34121330
87Renin-angiotensin system_Homo sapiens_hsa046140.33871515
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32213133
89Fat digestion and absorption_Homo sapiens_hsa049750.32002289
90Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.31891336
91HIF-1 signaling pathway_Homo sapiens_hsa040660.30833396
92Arachidonic acid metabolism_Homo sapiens_hsa005900.30030896
93Influenza A_Homo sapiens_hsa051640.29692211
94Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.28287958
95Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.27800277
96Measles_Homo sapiens_hsa051620.27488807
97Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.27330434
98FoxO signaling pathway_Homo sapiens_hsa040680.24908743
99Tryptophan metabolism_Homo sapiens_hsa003800.23174970
100Legionellosis_Homo sapiens_hsa051340.22178070

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