CA14

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. CA XIV is predicted to be a type I membrane protein and shares highest sequence similarity with the other transmembrane CA isoform, CA XII; however, they have different patterns of tissue-specific expression and thus may play different physiologic roles. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.77506420
2chromatin remodeling at centromere (GO:0031055)3.59499150
3presynaptic membrane assembly (GO:0097105)3.45066864
4ATP synthesis coupled proton transport (GO:0015986)3.40844498
5energy coupled proton transport, down electrochemical gradient (GO:0015985)3.40844498
6behavioral response to nicotine (GO:0035095)3.40019119
7protein neddylation (GO:0045116)3.31721733
8CENP-A containing nucleosome assembly (GO:0034080)3.30084121
9respiratory chain complex IV assembly (GO:0008535)3.28268612
10protein complex biogenesis (GO:0070271)3.19399651
11chaperone-mediated protein transport (GO:0072321)3.19180339
12water-soluble vitamin biosynthetic process (GO:0042364)3.15699083
13regulation of mitotic spindle checkpoint (GO:1903504)3.15050751
14regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.15050751
15regulation of gene silencing by RNA (GO:0060966)3.12532762
16regulation of posttranscriptional gene silencing (GO:0060147)3.12532762
17regulation of gene silencing by miRNA (GO:0060964)3.12532762
18DNA double-strand break processing (GO:0000729)3.10671689
19negative regulation of DNA-dependent DNA replication (GO:2000104)3.10186701
20mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.08647874
21mitochondrial respiratory chain complex I assembly (GO:0032981)3.08647874
22NADH dehydrogenase complex assembly (GO:0010257)3.08647874
23secondary metabolite biosynthetic process (GO:0044550)3.08170772
24histone exchange (GO:0043486)3.07913872
25replication fork processing (GO:0031297)3.05739691
26cullin deneddylation (GO:0010388)3.04825379
27retinal ganglion cell axon guidance (GO:0031290)3.03804622
28mitochondrial respiratory chain complex assembly (GO:0033108)3.03128153
29negative regulation of translation, ncRNA-mediated (GO:0040033)3.00688016
30regulation of translation, ncRNA-mediated (GO:0045974)3.00688016
31negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.00688016
32presynaptic membrane organization (GO:0097090)2.99278546
33cytochrome complex assembly (GO:0017004)2.99170559
34otic vesicle formation (GO:0030916)2.96069298
35limb bud formation (GO:0060174)2.93735326
36kinetochore assembly (GO:0051382)2.93291326
37somite development (GO:0061053)2.92574822
38platelet dense granule organization (GO:0060155)2.92063766
39lateral sprouting from an epithelium (GO:0060601)2.90471729
40protein deneddylation (GO:0000338)2.90366927
41kidney morphogenesis (GO:0060993)2.89385632
42detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.88284717
43nonmotile primary cilium assembly (GO:0035058)2.88024039
44nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.82635040
45regulation of nuclear cell cycle DNA replication (GO:0033262)2.81993665
46regulation of non-canonical Wnt signaling pathway (GO:2000050)2.80713909
47mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.80527779
48L-serine metabolic process (GO:0006563)2.79568107
49pyrimidine nucleobase catabolic process (GO:0006208)2.78843265
50DNA damage response, detection of DNA damage (GO:0042769)2.77733914
51intraciliary transport (GO:0042073)2.74409739
52exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.73198599
53epithelial cilium movement (GO:0003351)2.71254244
54establishment of protein localization to mitochondrial membrane (GO:0090151)2.70759780
55tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.69122743
56RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.69122743
57protein K6-linked ubiquitination (GO:0085020)2.64837286
58epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.62007050
59regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.61553895
60somatic diversification of immune receptors via somatic mutation (GO:0002566)2.58277028
61somatic hypermutation of immunoglobulin genes (GO:0016446)2.58277028
62postsynaptic membrane organization (GO:0001941)2.58241364
63DNA replication-independent nucleosome organization (GO:0034724)2.56511343
64DNA replication-independent nucleosome assembly (GO:0006336)2.56511343
65DNA replication checkpoint (GO:0000076)2.53517478
66transcription elongation from RNA polymerase III promoter (GO:0006385)2.52620156
67termination of RNA polymerase III transcription (GO:0006386)2.52620156
68melanin biosynthetic process (GO:0042438)2.52111816
69DNA strand renaturation (GO:0000733)2.52033920
70serine family amino acid catabolic process (GO:0009071)2.51392474
71lysine catabolic process (GO:0006554)2.50463908
72lysine metabolic process (GO:0006553)2.50463908
73peptidyl-histidine modification (GO:0018202)2.49898923
74cilium morphogenesis (GO:0060271)2.48863610
75protein-cofactor linkage (GO:0018065)2.48715251
76proteasome assembly (GO:0043248)2.47927689
77regulation of mesoderm development (GO:2000380)2.47834665
78kinetochore organization (GO:0051383)2.45783547
79reciprocal meiotic recombination (GO:0007131)2.44394955
80reciprocal DNA recombination (GO:0035825)2.44394955
81lung-associated mesenchyme development (GO:0060484)2.44055360
82ubiquinone metabolic process (GO:0006743)2.43890569
83negative regulation of telomere maintenance (GO:0032205)2.42949874
84recombinational repair (GO:0000725)2.41177946
85DNA replication-dependent nucleosome assembly (GO:0006335)2.40121323
86DNA replication-dependent nucleosome organization (GO:0034723)2.40121323
87negative regulation of transcription regulatory region DNA binding (GO:2000678)2.39695255
88cornea development in camera-type eye (GO:0061303)2.39039577
89electron transport chain (GO:0022900)2.38652302
90respiratory electron transport chain (GO:0022904)2.38628676
91glycine metabolic process (GO:0006544)2.37308457
92aldehyde catabolic process (GO:0046185)2.37262997
93double-strand break repair via homologous recombination (GO:0000724)2.36868346
94G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.36520269
95synapsis (GO:0007129)2.36448846
96DNA ligation (GO:0006266)2.34449481
97dorsal/ventral axis specification (GO:0009950)2.34176714
98protein polyglutamylation (GO:0018095)2.30813421
99ubiquinone biosynthetic process (GO:0006744)2.30659210
100aspartate family amino acid catabolic process (GO:0009068)2.29666932

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.11970761
2ZNF274_21170338_ChIP-Seq_K562_Hela3.05339573
3E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.78756301
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.71929219
5GABP_17652178_ChIP-ChIP_JURKAT_Human2.71221788
6HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.63679070
7SALL1_21062744_ChIP-ChIP_HESCs_Human2.59079053
8EST1_17652178_ChIP-ChIP_JURKAT_Human2.56577636
9MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.52998211
10VDR_22108803_ChIP-Seq_LS180_Human2.49672813
11EZH2_22144423_ChIP-Seq_EOC_Human2.42860277
12HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.38695581
13FUS_26573619_Chip-Seq_HEK293_Human2.33880184
14EWS_26573619_Chip-Seq_HEK293_Human2.27974172
15GBX2_23144817_ChIP-Seq_PC3_Human2.09928998
16ZFP57_27257070_Chip-Seq_ESCs_Mouse2.09630665
17POU5F1_16153702_ChIP-ChIP_HESCs_Human2.09116868
18IGF1R_20145208_ChIP-Seq_DFB_Human2.06149070
19P300_19829295_ChIP-Seq_ESCs_Human2.02551964
20FLI1_27457419_Chip-Seq_LIVER_Mouse2.01457458
21ELK1_19687146_ChIP-ChIP_HELA_Human1.92839342
22E2F4_17652178_ChIP-ChIP_JURKAT_Human1.92401001
23TAF15_26573619_Chip-Seq_HEK293_Human1.90809304
24POU3F2_20337985_ChIP-ChIP_501MEL_Human1.87010573
25MYC_18940864_ChIP-ChIP_HL60_Human1.81781745
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.80107976
27CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.76229297
28CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75630288
29NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.73705795
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.72811594
31GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72340414
32RBPJ_22232070_ChIP-Seq_NCS_Mouse1.70305835
33PCGF2_27294783_Chip-Seq_ESCs_Mouse1.67455619
34IRF1_19129219_ChIP-ChIP_H3396_Human1.59429752
35* SOX2_16153702_ChIP-ChIP_HESCs_Human1.58860403
36JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.55297582
37MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.50106175
38ETS1_20019798_ChIP-Seq_JURKAT_Human1.46666335
39VDR_23849224_ChIP-Seq_CD4+_Human1.41109788
40CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38919702
41PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36961742
42* NANOG_16153702_ChIP-ChIP_HESCs_Human1.36958368
43GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.36599796
44* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.31420161
45POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.31113012
46NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.27769622
47FOXP3_21729870_ChIP-Seq_TREG_Human1.26190284
48CREB1_15753290_ChIP-ChIP_HEK293T_Human1.24981645
49MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23288092
50TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21821953
51UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21404867
52SMAD3_21741376_ChIP-Seq_EPCs_Human1.19291091
53MYC_18555785_ChIP-Seq_MESCs_Mouse1.18113202
54CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.17950249
55SRF_21415370_ChIP-Seq_HL-1_Mouse1.17225703
56PADI4_21655091_ChIP-ChIP_MCF-7_Human1.15558673
57SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15488624
58TP53_22573176_ChIP-Seq_HFKS_Human1.14912227
59BCAT_22108803_ChIP-Seq_LS180_Human1.13679463
60FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.13360361
61AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.12890531
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.12255984
63TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11784290
64POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11784290
65PIAS1_25552417_ChIP-Seq_VCAP_Human1.11537599
66NFE2_27457419_Chip-Seq_LIVER_Mouse1.10907310
67EZH2_27294783_Chip-Seq_NPCs_Mouse1.10340657
68RNF2_27304074_Chip-Seq_NSC_Mouse1.10324750
69BMI1_23680149_ChIP-Seq_NPCS_Mouse1.10213967
70TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09857192
71FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.09734464
72TP63_19390658_ChIP-ChIP_HaCaT_Human1.09618843
73SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08730092
74* ER_23166858_ChIP-Seq_MCF-7_Human1.07469855
75TCF4_22108803_ChIP-Seq_LS180_Human1.07125689
76NOTCH1_21737748_ChIP-Seq_TLL_Human1.05625476
77SOX2_19829295_ChIP-Seq_ESCs_Human1.05350546
78NANOG_19829295_ChIP-Seq_ESCs_Human1.05350546
79CBX2_27304074_Chip-Seq_ESCs_Mouse1.04819016
80KLF5_20875108_ChIP-Seq_MESCs_Mouse1.04128759
81OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02847644
82SOX2_18555785_ChIP-Seq_MESCs_Mouse1.02695386
83PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.02124765
84SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.01734233
85SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.01311955
86SMAD4_21799915_ChIP-Seq_A2780_Human1.01301522
87CBP_20019798_ChIP-Seq_JUKART_Human1.00248127
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.00248127
89MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.97852986
90AR_25329375_ChIP-Seq_VCAP_Human0.97125484
91* FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96770443
92* FOXA1_25329375_ChIP-Seq_VCAP_Human0.96770443
93YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.95340882
94RUNX2_22187159_ChIP-Seq_PCA_Human0.94494650
95TTF2_22483619_ChIP-Seq_HELA_Human0.94171893
96E2F7_22180533_ChIP-Seq_HELA_Human0.93708897
97STAT3_23295773_ChIP-Seq_U87_Human0.93481240
98TCF4_23295773_ChIP-Seq_U87_Human0.92582521
99TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.92047326
100PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92005016

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color4.56438815
2MP0000372_irregular_coat_pigmentation3.35630692
3MP0005171_absent_coat_pigmentation3.25883683
4MP0006292_abnormal_olfactory_placode3.18542575
5MP0002938_white_spotting3.00738076
6MP0002102_abnormal_ear_morphology2.74070376
7MP0010030_abnormal_orbit_morphology2.37930391
8MP0008877_abnormal_DNA_methylation2.23447167
9MP0001293_anophthalmia2.23266206
10MP0003122_maternal_imprinting1.91814521
11MP0003878_abnormal_ear_physiology1.88427250
12MP0005377_hearing/vestibular/ear_phenot1.88427250
13MP0004133_heterotaxia1.84749230
14MP0006072_abnormal_retinal_apoptosis1.80617617
15MP0008058_abnormal_DNA_repair1.80497165
16MP0002653_abnormal_ependyma_morphology1.77906637
17MP0005253_abnormal_eye_physiology1.73088968
18MP0005551_abnormal_eye_electrophysiolog1.68779242
19MP0001529_abnormal_vocalization1.66708526
20MP0005075_abnormal_melanosome_morpholog1.66036752
21MP0003880_abnormal_central_pattern1.64947791
22MP0003011_delayed_dark_adaptation1.63039233
23MP0001984_abnormal_olfaction1.60769261
24MP0003937_abnormal_limbs/digits/tail_de1.58184570
25MP0008789_abnormal_olfactory_epithelium1.55851813
26MP0002736_abnormal_nociception_after1.55705939
27MP0003121_genomic_imprinting1.54302804
28MP0002095_abnormal_skin_pigmentation1.51800127
29MP0010094_abnormal_chromosome_stability1.49945631
30MP0000566_synostosis1.49800160
31MP0005408_hypopigmentation1.47982401
32MP0003787_abnormal_imprinting1.47329193
33MP0002837_dystrophic_cardiac_calcinosis1.46805456
34MP0000631_abnormal_neuroendocrine_gland1.42459163
35MP0002254_reproductive_system_inflammat1.41937106
36MP0000049_abnormal_middle_ear1.41722010
37MP0003890_abnormal_embryonic-extraembry1.40672250
38MP0002638_abnormal_pupillary_reflex1.40455298
39MP0001968_abnormal_touch/_nociception1.38020813
40MP0002751_abnormal_autonomic_nervous1.37949876
41MP0003195_calcinosis1.37848030
42MP0005174_abnormal_tail_pigmentation1.35848319
43MP0004885_abnormal_endolymph1.35258957
44MP0001485_abnormal_pinna_reflex1.33559032
45MP0001324_abnormal_eye_pigmentation1.32162350
46MP0000778_abnormal_nervous_system1.31264935
47MP0005499_abnormal_olfactory_system1.27459945
48MP0005394_taste/olfaction_phenotype1.27459945
49MP0003567_abnormal_fetal_cardiomyocyte1.22024411
50MP0003119_abnormal_digestive_system1.20676416
51MP0002233_abnormal_nose_morphology1.20632534
52MP0003693_abnormal_embryo_hatching1.20104709
53MP0005248_abnormal_Harderian_gland1.16344309
54MP0003718_maternal_effect1.14754142
55MP0005391_vision/eye_phenotype1.13873624
56MP0003646_muscle_fatigue1.13379181
57MP0004142_abnormal_muscle_tone1.12857578
58MP0003938_abnormal_ear_development1.11454029
59MP0001286_abnormal_eye_development1.10762969
60MP0000026_abnormal_inner_ear1.08908944
61MP0001486_abnormal_startle_reflex1.07739280
62MP0004147_increased_porphyrin_level1.03934400
63MP0006276_abnormal_autonomic_nervous1.01068676
64MP0002272_abnormal_nervous_system1.00239976
65MP0008932_abnormal_embryonic_tissue1.00081044
66MP0005195_abnormal_posterior_eye0.99069452
67MP0002752_abnormal_somatic_nervous0.98116826
68MP0002697_abnormal_eye_size0.95310477
69MP0000569_abnormal_digit_pigmentation0.94780159
70MP0009745_abnormal_behavioral_response0.94634855
71MP0003137_abnormal_impulse_conducting0.93871459
72MP0003755_abnormal_palate_morphology0.92696389
73MP0000647_abnormal_sebaceous_gland0.92396459
74MP0003941_abnormal_skin_development0.91845420
75MP0003111_abnormal_nucleus_morphology0.91134517
76MP0009046_muscle_twitch0.90263391
77MP0005646_abnormal_pituitary_gland0.89453549
78MP0002557_abnormal_social/conspecific_i0.84569585
79MP0001963_abnormal_hearing_physiology0.84113721
80MP0002090_abnormal_vision0.82884861
81MP0003283_abnormal_digestive_organ0.81454094
82MP0001177_atelectasis0.81033030
83MP0004145_abnormal_muscle_electrophysio0.80141988
84MP0002184_abnormal_innervation0.79191462
85MP0003861_abnormal_nervous_system0.78316497
86MP0000955_abnormal_spinal_cord0.77004395
87MP0005187_abnormal_penis_morphology0.76787958
88MP0002734_abnormal_mechanical_nocicepti0.76527455
89MP0002234_abnormal_pharynx_morphology0.76138104
90MP0003698_abnormal_male_reproductive0.73327681
91MP0002111_abnormal_tail_morphology0.72085993
92MP0002572_abnormal_emotion/affect_behav0.71951070
93MP0002210_abnormal_sex_determination0.71750173
94MP0001188_hyperpigmentation0.71722643
95MP0002282_abnormal_trachea_morphology0.71506813
96MP0009697_abnormal_copulation0.71038280
97MP0001929_abnormal_gametogenesis0.70953211
98MP0003186_abnormal_redox_activity0.70793083
99MP0004215_abnormal_myocardial_fiber0.68216993
100MP0002160_abnormal_reproductive_system0.67908994

Predicted human phenotypes

RankGene SetZ-score
1True hermaphroditism (HP:0010459)3.54688743
2Pancreatic cysts (HP:0001737)3.50164626
3Septo-optic dysplasia (HP:0100842)3.45867428
4Pancreatic fibrosis (HP:0100732)3.42123986
5Abnormality of the labia minora (HP:0012880)3.42004823
6Abnormality of midbrain morphology (HP:0002418)3.07769087
7Molar tooth sign on MRI (HP:0002419)3.07769087
8Colon cancer (HP:0003003)3.05785913
9Nephronophthisis (HP:0000090)2.85232346
10Hyperglycinemia (HP:0002154)2.75994793
11Medial flaring of the eyebrow (HP:0010747)2.68456248
12Anophthalmia (HP:0000528)2.58575436
13Intestinal atresia (HP:0011100)2.54762493
14Congenital stationary night blindness (HP:0007642)2.54129695
15Acute necrotizing encephalopathy (HP:0006965)2.49628774
16Optic nerve hypoplasia (HP:0000609)2.47268325
17Pendular nystagmus (HP:0012043)2.41389059
18Vaginal atresia (HP:0000148)2.40753821
19Abolished electroretinogram (ERG) (HP:0000550)2.39183023
20Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.38275765
21Sclerocornea (HP:0000647)2.36421225
22Genital tract atresia (HP:0001827)2.36390539
23Absent septum pellucidum (HP:0001331)2.34262539
24Hyperglycinuria (HP:0003108)2.33943631
25Acute encephalopathy (HP:0006846)2.31824999
26Anencephaly (HP:0002323)2.30383255
27Abnormality of the renal medulla (HP:0100957)2.29572769
28Hypoplasia of the fovea (HP:0007750)2.28631773
29Aplasia/Hypoplasia of the fovea (HP:0008060)2.28631773
30Meckel diverticulum (HP:0002245)2.28135232
31Abnormality of the ileum (HP:0001549)2.25553517
32Mitochondrial inheritance (HP:0001427)2.25444995
33Abnormal biliary tract physiology (HP:0012439)2.24313880
34Bile duct proliferation (HP:0001408)2.24313880
35Gait imbalance (HP:0002141)2.23190856
36Congenital primary aphakia (HP:0007707)2.21949725
37Increased hepatocellular lipid droplets (HP:0006565)2.20632087
38Cystic liver disease (HP:0006706)2.18311605
39Abnormality of serine family amino acid metabolism (HP:0010894)2.17678168
40Abnormality of glycine metabolism (HP:0010895)2.17678168
41Lipid accumulation in hepatocytes (HP:0006561)2.17246405
42Progressive macrocephaly (HP:0004481)2.15999828
43Chronic hepatic failure (HP:0100626)2.14729742
44Bilateral microphthalmos (HP:0007633)2.14524705
45Abnormal lung lobation (HP:0002101)2.13065923
46Aplasia/Hypoplasia of the tongue (HP:0010295)2.10096971
47Type II lissencephaly (HP:0007260)2.10052023
48Aplasia/Hypoplasia of the uvula (HP:0010293)2.08983832
49Abnormal mitochondria in muscle tissue (HP:0008316)2.07868399
50Supernumerary spleens (HP:0009799)2.06669503
51Nephrogenic diabetes insipidus (HP:0009806)2.05531320
52Preaxial hand polydactyly (HP:0001177)2.05182029
53Increased CSF lactate (HP:0002490)2.04689528
54Abnormality of the fovea (HP:0000493)2.03979549
55Gastrointestinal atresia (HP:0002589)2.02099033
56Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.01992970
57Esophageal atresia (HP:0002032)1.99800958
58Methylmalonic acidemia (HP:0002912)1.98896767
59Abnormality of the septum pellucidum (HP:0007375)1.95217118
60Abnormal number of erythroid precursors (HP:0012131)1.93705286
61Postaxial hand polydactyly (HP:0001162)1.92990884
62Oligodactyly (hands) (HP:0001180)1.92749954
63Aplasia/Hypoplasia of the spleen (HP:0010451)1.92167054
64Rib fusion (HP:0000902)1.91011128
65Stenosis of the external auditory canal (HP:0000402)1.89555966
66Renal hypoplasia (HP:0000089)1.86188658
67Postaxial foot polydactyly (HP:0001830)1.86089276
68Dandy-Walker malformation (HP:0001305)1.85833808
69Congenital hepatic fibrosis (HP:0002612)1.85398781
70Asplenia (HP:0001746)1.84546946
71Abnormality of serum amino acid levels (HP:0003112)1.84498293
72Triphalangeal thumb (HP:0001199)1.84207205
73Patchy hypopigmentation of hair (HP:0011365)1.84030180
74Bifid tongue (HP:0010297)1.82691635
75Methylmalonic aciduria (HP:0012120)1.81359367
76Abnormality of the renal cortex (HP:0011035)1.80167845
77Ectopic kidney (HP:0000086)1.78772003
78Hypoplastic pelvis (HP:0008839)1.77897497
79Patellar aplasia (HP:0006443)1.77500433
80Reticulocytopenia (HP:0001896)1.77014195
81Decreased central vision (HP:0007663)1.75969334
82Hepatocellular necrosis (HP:0001404)1.74235225
83Holoprosencephaly (HP:0001360)1.74214123
84Aqueductal stenosis (HP:0002410)1.73684349
85Broad foot (HP:0001769)1.73397273
863-Methylglutaconic aciduria (HP:0003535)1.72675286
87White forelock (HP:0002211)1.72445852
88Hemivertebrae (HP:0002937)1.72279099
89Attenuation of retinal blood vessels (HP:0007843)1.71880096
90Astigmatism (HP:0000483)1.71011472
91Male pseudohermaphroditism (HP:0000037)1.70277482
92Maternal diabetes (HP:0009800)1.69936081
93Hypoplasia of the pons (HP:0012110)1.68773877
94Cerebellar dysplasia (HP:0007033)1.68741025
95Chromosomal breakage induced by crosslinking agents (HP:0003221)1.67365194
96Abnormality of the pons (HP:0007361)1.65546852
97Optic disc pallor (HP:0000543)1.65317936
98Aplasia/Hypoplasia of the macula (HP:0008059)1.63909901
99Absent thumb (HP:0009777)1.63600224
100Aplasia/Hypoplasia of the patella (HP:0006498)1.63586811

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK33.03256147
2FRK2.80740242
3BMPR1B2.72584200
4ZAK2.59229329
5TNIK2.59211930
6MKNK22.52704450
7MKNK12.34147974
8FGFR22.24587101
9NUAK12.22597758
10VRK22.15343586
11PLK32.03741165
12MAP4K21.96340268
13BUB11.94926424
14ADRBK21.86525940
15GRK11.81896848
16CDC71.80405575
17SRPK11.78174565
18DYRK21.76997187
19CASK1.75519124
20WEE11.71928373
21PLK21.65578210
22TRIM281.62984466
23MAP3K41.59858464
24TTK1.56048458
25STK161.55694880
26PINK11.53376562
27VRK11.45772680
28PLK41.42098435
29CSNK1G11.41257704
30TSSK61.35991398
31ACVR1B1.35986768
32EPHA41.31362813
33CSNK1G21.31123290
34BCKDK1.30936494
35TAF11.25594238
36BRSK21.23452863
37WNK41.22445830
38CSNK1G31.20625874
39STK38L1.16781642
40PLK11.14430805
41TLK11.12593374
42TGFBR11.11074285
43NEK21.09613000
44INSRR1.09561471
45OBSCN1.08462574
46NEK11.06889938
47CDK191.06535995
48NTRK21.04022850
49MAP2K71.01982654
50MAPK131.00375075
51CSNK1A1L0.94763106
52PRKCG0.89841382
53MARK10.89496717
54TIE10.87254314
55PASK0.87147210
56OXSR10.86482391
57BCR0.86006549
58NME10.85230172
59ATR0.84629481
60DYRK30.83202540
61PAK30.80393670
62NLK0.77625298
63EIF2AK30.76895477
64BRSK10.73365497
65CHEK20.73278202
66PRKCE0.72076087
67FGFR10.71907448
68ERBB30.71327975
69PBK0.67422734
70STK390.67268614
71PNCK0.63541874
72STK30.58566827
73EPHA30.58470694
74DYRK1A0.58136574
75ATM0.57900619
76PHKG20.56305144
77PHKG10.56305144
78EPHB20.55783035
79MST40.53921493
80CSNK1A10.53448423
81CDK30.51364673
82MAPK150.51297466
83TYRO30.46706933
84AURKB0.46494289
85ERBB20.43775098
86UHMK10.42867604
87CAMK2A0.42704580
88CSNK1D0.40502335
89PKN10.39116901
90RPS6KA40.38210224
91PRKDC0.38003565
92CSNK2A10.37834658
93PRKACA0.37155288
94MUSK0.37152174
95ADRBK10.36845998
96EIF2AK20.35589843
97RPS6KA50.33129694
98CCNB10.32545676
99CSNK1E0.31844070
100PRKACB0.30767302

Predicted pathways (KEGG)

RankGene SetZ-score
1Oxidative phosphorylation_Homo sapiens_hsa001902.74059459
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.70663823
3Protein export_Homo sapiens_hsa030602.51189152
4Homologous recombination_Homo sapiens_hsa034402.42472481
5Parkinsons disease_Homo sapiens_hsa050122.30743419
6RNA polymerase_Homo sapiens_hsa030202.30025875
7Proteasome_Homo sapiens_hsa030502.23011287
8Non-homologous end-joining_Homo sapiens_hsa034502.20531013
9Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.16594734
10Propanoate metabolism_Homo sapiens_hsa006402.12050521
11Ribosome_Homo sapiens_hsa030101.98898998
12Mismatch repair_Homo sapiens_hsa034301.94382322
13Phototransduction_Homo sapiens_hsa047441.94256116
14Fanconi anemia pathway_Homo sapiens_hsa034601.93190922
15Basal transcription factors_Homo sapiens_hsa030221.77573156
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.76918775
17Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.76463515
18One carbon pool by folate_Homo sapiens_hsa006701.75914827
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.75438654
20Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.73788467
21Huntingtons disease_Homo sapiens_hsa050161.70208301
22Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.68414317
23RNA degradation_Homo sapiens_hsa030181.66544339
24Steroid biosynthesis_Homo sapiens_hsa001001.55679326
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.53886175
26Selenocompound metabolism_Homo sapiens_hsa004501.51160660
27Butanoate metabolism_Homo sapiens_hsa006501.49418929
28DNA replication_Homo sapiens_hsa030301.46696822
29Basal cell carcinoma_Homo sapiens_hsa052171.46435349
30Linoleic acid metabolism_Homo sapiens_hsa005911.45818227
31Alzheimers disease_Homo sapiens_hsa050101.40822997
32Cysteine and methionine metabolism_Homo sapiens_hsa002701.37761682
33alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.35235424
34Cardiac muscle contraction_Homo sapiens_hsa042601.34784158
35Base excision repair_Homo sapiens_hsa034101.32152701
36RNA transport_Homo sapiens_hsa030131.29902256
37Spliceosome_Homo sapiens_hsa030401.29533063
38Hedgehog signaling pathway_Homo sapiens_hsa043401.29517727
39Caffeine metabolism_Homo sapiens_hsa002321.24443544
40Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.21165288
41Nicotine addiction_Homo sapiens_hsa050331.20411418
42Tryptophan metabolism_Homo sapiens_hsa003801.16952855
43Nucleotide excision repair_Homo sapiens_hsa034201.15304765
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.12788761
45Ether lipid metabolism_Homo sapiens_hsa005651.12311672
46Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.06167899
47Pyruvate metabolism_Homo sapiens_hsa006201.06138322
48* Nitrogen metabolism_Homo sapiens_hsa009101.05127935
49Fatty acid elongation_Homo sapiens_hsa000621.03676506
50Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.03467359
51Peroxisome_Homo sapiens_hsa041461.02264110
52Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.01077569
53beta-Alanine metabolism_Homo sapiens_hsa004100.95835028
54Maturity onset diabetes of the young_Homo sapiens_hsa049500.95594127
55Purine metabolism_Homo sapiens_hsa002300.95299596
56Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.93207857
57Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.89316051
58Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.88569228
59Pyrimidine metabolism_Homo sapiens_hsa002400.85383510
60Primary bile acid biosynthesis_Homo sapiens_hsa001200.83794972
61Metabolic pathways_Homo sapiens_hsa011000.78331110
62Retinol metabolism_Homo sapiens_hsa008300.77578793
63Hippo signaling pathway_Homo sapiens_hsa043900.75231916
64Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.74928924
65Arginine and proline metabolism_Homo sapiens_hsa003300.74388498
66Taste transduction_Homo sapiens_hsa047420.74185940
67Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73534862
68Cell cycle_Homo sapiens_hsa041100.73082263
69Pentose and glucuronate interconversions_Homo sapiens_hsa000400.70348514
70Vitamin B6 metabolism_Homo sapiens_hsa007500.69682338
71Vitamin digestion and absorption_Homo sapiens_hsa049770.69240604
72Fatty acid metabolism_Homo sapiens_hsa012120.69148441
73Sulfur relay system_Homo sapiens_hsa041220.69112885
74Fatty acid degradation_Homo sapiens_hsa000710.69042774
75Chemical carcinogenesis_Homo sapiens_hsa052040.66740845
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.66607460
77Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.66517510
78Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64251565
79Wnt signaling pathway_Homo sapiens_hsa043100.63832899
80Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.63304493
81Glutathione metabolism_Homo sapiens_hsa004800.58425142
82Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.57897218
83Folate biosynthesis_Homo sapiens_hsa007900.57279870
84Fat digestion and absorption_Homo sapiens_hsa049750.55092531
85Olfactory transduction_Homo sapiens_hsa047400.53751227
862-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.53705842
87Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.52700959
88mRNA surveillance pathway_Homo sapiens_hsa030150.52086046
89Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48708710
90Tyrosine metabolism_Homo sapiens_hsa003500.48040277
91Arachidonic acid metabolism_Homo sapiens_hsa005900.46890871
92p53 signaling pathway_Homo sapiens_hsa041150.45987023
93Collecting duct acid secretion_Homo sapiens_hsa049660.45251102
94Histidine metabolism_Homo sapiens_hsa003400.43859813
95Regulation of autophagy_Homo sapiens_hsa041400.43636886
96TGF-beta signaling pathway_Homo sapiens_hsa043500.42585955
97Oocyte meiosis_Homo sapiens_hsa041140.41703198
98Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.40433483
99Axon guidance_Homo sapiens_hsa043600.40113623
100Morphine addiction_Homo sapiens_hsa050320.39717542

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