HTR3C

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: The product of this gene belongs to the ligand-gated ion channel receptor superfamily. This gene encodes subunit C of the type 3 receptor for 5-hydroxytryptamine (serotonin), a biogenic hormone that functions as a neurotransmitter, a hormone, and a mitogen. This receptor causes fast, depolarizing responses in neurons after activation. Genes encoding subunits C, D and E form a cluster on chromosome 3. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1multicellular organism reproduction (GO:0032504)7.87833758
2regulation of female gonad development (GO:2000194)7.84811195
3regulation of somitogenesis (GO:0014807)7.02736970
4regulation of DNA methylation (GO:0044030)6.65199895
5regulation of cytokine production involved in inflammatory response (GO:1900015)6.36655045
6fusion of sperm to egg plasma membrane (GO:0007342)5.54821174
7piRNA metabolic process (GO:0034587)5.54057762
8male meiosis I (GO:0007141)5.43143278
9reproduction (GO:0000003)5.28834004
10meiotic cell cycle (GO:0051321)5.23655691
11protein kinase C signaling (GO:0070528)5.07474298
12embryonic viscerocranium morphogenesis (GO:0048703)4.92480288
13binding of sperm to zona pellucida (GO:0007339)4.91663432
14glycine transport (GO:0015816)4.89264750
15maturation of 5.8S rRNA (GO:0000460)4.83649121
16sperm-egg recognition (GO:0035036)4.81199051
17oocyte development (GO:0048599)4.80399649
18meiosis I (GO:0007127)4.66368530
19ribosomal large subunit biogenesis (GO:0042273)4.55269639
20regulation of spindle organization (GO:0090224)4.55266382
21positive regulation of triglyceride biosynthetic process (GO:0010867)4.34575335
22pyrimidine dimer repair (GO:0006290)4.27362235
23positive regulation of humoral immune response (GO:0002922)4.14836292
24positive regulation of embryonic development (GO:0040019)4.10840918
25DNA methylation involved in gamete generation (GO:0043046)4.01418254
26positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.99860606
27positive regulation of uterine smooth muscle contraction (GO:0070474)3.98998702
28type B pancreatic cell development (GO:0003323)3.98105020
29plasma membrane fusion (GO:0045026)3.97409405
30regulation of calcium ion-dependent exocytosis (GO:0017158)3.94176560
31cell-cell recognition (GO:0009988)3.89061681
32cellular response to pH (GO:0071467)3.87678913
33negative regulation of reproductive process (GO:2000242)3.76245119
34regulation of steroid hormone secretion (GO:2000831)3.67176129
35regulation of histone H3-K9 methylation (GO:0051570)3.62745997
36regulation of mitotic spindle organization (GO:0060236)3.54454951
37sleep (GO:0030431)3.52419292
38female gamete generation (GO:0007292)3.50189853
39single fertilization (GO:0007338)3.45432958
40segment specification (GO:0007379)3.42567489
41spermatid nucleus differentiation (GO:0007289)3.42460803
42negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)3.41151163
43retinal cone cell development (GO:0046549)3.40091333
44spindle assembly involved in mitosis (GO:0090307)3.38503976
45positive regulation of reproductive process (GO:2000243)3.35417724
46regulation of meiosis I (GO:0060631)3.35257171
47regulation of female receptivity (GO:0045924)3.27728463
48response to xenobiotic stimulus (GO:0009410)3.24457233
49aggressive behavior (GO:0002118)3.22409314
50mitotic metaphase plate congression (GO:0007080)3.21689370
51positive regulation of gastrulation (GO:2000543)3.19880038
52fertilization (GO:0009566)3.15580771
53protein localization to chromosome, centromeric region (GO:0071459)3.12429080
54centriole replication (GO:0007099)3.11865620
55regulation of spindle checkpoint (GO:0090231)3.11772525
56positive regulation of histone H3-K4 methylation (GO:0051571)3.10290978
57sulfate transport (GO:0008272)2.93411258
58regulation of uterine smooth muscle contraction (GO:0070472)2.89100182
59regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.87371416
60regulation of reproductive process (GO:2000241)2.87019711
61meiotic nuclear division (GO:0007126)2.84669382
62gene silencing by RNA (GO:0031047)2.84143178
63L-amino acid import (GO:0043092)2.83457766
64regulation of G2/M transition of mitotic cell cycle (GO:0010389)2.83005629
65regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)2.80113618
66regulation of mitotic spindle checkpoint (GO:1903504)2.80113618
67positive regulation of interleukin-4 production (GO:0032753)2.77338685
68protein localization to kinetochore (GO:0034501)2.77251183
69mitotic G2/M transition checkpoint (GO:0044818)2.77147209
70autophagic vacuole fusion (GO:0000046)2.75354498
71attachment of spindle microtubules to kinetochore (GO:0008608)2.74044052
72regulation of triglyceride biosynthetic process (GO:0010866)2.73877630
73regulation of cell cycle G2/M phase transition (GO:1902749)2.73859538
74positive regulation of cell cycle G2/M phase transition (GO:1902751)2.73785624
75positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)2.73785624
76regulation of platelet aggregation (GO:0090330)2.72637496
77regulation of cell maturation (GO:1903429)2.71913581
78synapsis (GO:0007129)2.71762183
79male meiosis (GO:0007140)2.71683086
80response to acidic pH (GO:0010447)2.68224648
81regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.67788031
82positive regulation of chromosome segregation (GO:0051984)2.66470903
83sister chromatid segregation (GO:0000819)2.66237845
84female mating behavior (GO:0060180)2.63675654
85neuron fate determination (GO:0048664)2.60590198
86glandular epithelial cell development (GO:0002068)2.60267468
87phosphorelay signal transduction system (GO:0000160)2.59499916
88regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)2.58244370
89meiotic cell cycle process (GO:1903046)2.57678716
90mitotic chromosome condensation (GO:0007076)2.57042383
91positive regulation of mRNA 3-end processing (GO:0031442)2.56456198
92mitochondrial RNA metabolic process (GO:0000959)2.56237200
93positive regulation of triglyceride metabolic process (GO:0090208)2.55813257
94regulation of mRNA 3-end processing (GO:0031440)2.54743151
95oxidative demethylation (GO:0070989)2.53126771
96negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.51770197
97calcium ion-dependent exocytosis (GO:0017156)2.50657383
98negative regulation of retinoic acid receptor signaling pathway (GO:0048387)18.4725932
99regulation of retinoic acid receptor signaling pathway (GO:0048385)15.5525592
100regulation of acrosome reaction (GO:0060046)11.0048977

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse4.28388790
2ZNF274_21170338_ChIP-Seq_K562_Hela4.13498093
3HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.27372422
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.08604468
5VDR_22108803_ChIP-Seq_LS180_Human2.86996481
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.86260617
7KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.84847772
8KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.84847772
9KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.84847772
10IRF1_19129219_ChIP-ChIP_H3396_Human2.60136195
11FOXM1_23109430_ChIP-Seq_U2OS_Human2.43467245
12TP63_19390658_ChIP-ChIP_HaCaT_Human2.33579271
13NOTCH1_21737748_ChIP-Seq_TLL_Human2.04955396
14EZH2_22144423_ChIP-Seq_EOC_Human10.0909956
15MYC_18940864_ChIP-ChIP_HL60_Human1.87220958
16GATA1_26923725_Chip-Seq_HPCs_Mouse1.83581101
17HTT_18923047_ChIP-ChIP_STHdh_Human1.74570944
18E2F4_17652178_ChIP-ChIP_JURKAT_Human1.72403466
19GBX2_23144817_ChIP-Seq_PC3_Human1.71723112
20MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.71712922
21EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.67869481
22UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.66757256
23HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.58786600
24CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55387589
25NANOG_20526341_ChIP-Seq_ESCs_Human1.51201316
26CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.48989337
27NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.43934516
28RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.43250304
29FOXA1_21572438_ChIP-Seq_LNCaP_Human1.40494167
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40360063
31BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33202616
32PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.32763675
33PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.32265004
34CTBP2_25329375_ChIP-Seq_LNCAP_Human1.30568696
35RUNX2_22187159_ChIP-Seq_PCA_Human1.30058845
36TBL1_22424771_ChIP-Seq_293T_Human1.29303067
37PRDM14_20953172_ChIP-Seq_ESCs_Human1.25760463
38MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25676433
39ER_23166858_ChIP-Seq_MCF-7_Human1.24921660
40SALL4_22934838_ChIP-ChIP_CD34+_Human1.24598558
41AR_21909140_ChIP-Seq_LNCAP_Human1.24444453
42TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23733624
43SMAD4_21741376_ChIP-Seq_EPCs_Human1.23579183
44TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20118699
45POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.20118699
46NFYB_21822215_ChIP-Seq_K562_Human1.19156831
47FOXP3_21729870_ChIP-Seq_TREG_Human1.18501795
48BCAT_22108803_ChIP-Seq_LS180_Human1.18318026
49FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.18058175
50P300_19829295_ChIP-Seq_ESCs_Human1.17711373
51* GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.16378444
52SMAD4_21799915_ChIP-Seq_A2780_Human1.16321645
53EST1_17652178_ChIP-ChIP_JURKAT_Human1.15522995
54TP53_22573176_ChIP-Seq_HFKS_Human1.14941624
55SCL_19346495_ChIP-Seq_HPC-7_Human1.14411493
56TCF4_23295773_ChIP-Seq_U87_Human1.14334573
57AUTS2_25519132_ChIP-Seq_293T-REX_Human1.12907806
58FOXM1_26456572_ChIP-Seq_MCF-7_Human1.11460308
59LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.11363676
60RAC3_21632823_ChIP-Seq_H3396_Human1.11363560
61KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.10913171
62PHF8_20622853_ChIP-Seq_HELA_Human1.10579677
63CDX2_22108803_ChIP-Seq_LS180_Human1.09939392
64ETV1_20927104_ChIP-Seq_GIST48_Human1.09553249
65TAL1_26923725_Chip-Seq_HPCs_Mouse1.08343506
66SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08081617
67* GATA3_21878914_ChIP-Seq_MCF-7_Human1.08033816
68SMRT_27268052_Chip-Seq_Bcells_Human1.07186643
69RBPJ_21746931_ChIP-Seq_IB4_Human1.06585127
70GATA3_26560356_Chip-Seq_TH1_Human1.04202240
71CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.03855748
72FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.02480541
73HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.01970219
74OCT1_27270436_Chip-Seq_PROSTATE_Human1.00215157
75STAT3_23295773_ChIP-Seq_U87_Human0.99912691
76SOX2_21211035_ChIP-Seq_LN229_Human0.99685511
77GF1_26923725_Chip-Seq_HPCs_Mouse0.99308504
78GATA3_26560356_Chip-Seq_TH2_Human0.97997152
79ELK4_26923725_Chip-Seq_MESODERM_Mouse0.97969375
80CTCF_20526341_ChIP-Seq_ESCs_Human0.97158400
81FOXA1_25329375_ChIP-Seq_VCAP_Human0.95270520
82FOXA1_27270436_Chip-Seq_PROSTATE_Human0.95270520
83PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92953589
84E2F7_22180533_ChIP-Seq_HELA_Human0.92879995
85NR3C1_21868756_ChIP-Seq_MCF10A_Human0.91849041
86SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.91079187
87ETS1_20019798_ChIP-Seq_JURKAT_Human0.90762160
88MYC_19829295_ChIP-Seq_ESCs_Human0.89502379
89* TAF2_19829295_ChIP-Seq_ESCs_Human0.87567821
90KLF5_20875108_ChIP-Seq_MESCs_Mouse0.87465293
91SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.86821352
92CREB1_15753290_ChIP-ChIP_HEK293T_Human0.86732697
93KAP1_22055183_ChIP-Seq_ESCs_Mouse0.86296370
94CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.85187070
95SMAD3_21741376_ChIP-Seq_EPCs_Human0.84077997
96VDR_24787735_ChIP-Seq_THP-1_Human0.83035913
97LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82048991
98P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.81998335
99* P53_21459846_ChIP-Seq_SAOS-2_Human0.81677871
100EWS_26573619_Chip-Seq_HEK293_Human0.81494684

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002102_abnormal_ear_morphology7.36311464
2MP0003718_maternal_effect5.82534178
3MP0002653_abnormal_ependyma_morphology3.67900473
4MP0003136_yellow_coat_color2.97197089
5MP0006292_abnormal_olfactory_placode2.96305820
6MP0008789_abnormal_olfactory_epithelium2.92099875
7MP0005410_abnormal_fertilization2.82997495
8MP0005394_taste/olfaction_phenotype2.54514179
9MP0005499_abnormal_olfactory_system2.54514179
10MP0003879_abnormal_hair_cell2.54400951
11MP0003878_abnormal_ear_physiology2.52905441
12MP0005377_hearing/vestibular/ear_phenot2.52905441
13MP0003890_abnormal_embryonic-extraembry2.38254798
14MP0003693_abnormal_embryo_hatching2.35563484
15MP0000015_abnormal_ear_pigmentation2.28157144
16MP0005395_other_phenotype2.27920910
17MP0003950_abnormal_plasma_membrane2.22854155
18MP0005360_urolithiasis1.99055632
19MP0005379_endocrine/exocrine_gland_phen1.92571910
20MP0001929_abnormal_gametogenesis1.75703328
21MP0006276_abnormal_autonomic_nervous1.75650259
22MP0005085_abnormal_gallbladder_physiolo1.73040874
23MP0001986_abnormal_taste_sensitivity1.70438837
24MP0009840_abnormal_foam_cell1.61813910
25MP0008057_abnormal_DNA_replication1.57183063
26MP0003252_abnormal_bile_duct1.55280640
27MP0008877_abnormal_DNA_methylation1.53306161
28MP0003699_abnormal_female_reproductive1.49921062
29MP0002210_abnormal_sex_determination1.46208902
30MP0010352_gastrointestinal_tract_polyps1.44538625
31MP0002160_abnormal_reproductive_system1.42055471
32MP0000631_abnormal_neuroendocrine_gland1.41171972
33MP0002127_abnormal_cardiovascular_syste1.40989632
34MP0000762_abnormal_tongue_morphology1.39215993
35MP0002928_abnormal_bile_duct1.34768561
36MP0003077_abnormal_cell_cycle1.34597528
37MP0001346_abnormal_lacrimal_gland1.34463374
38MP0002735_abnormal_chemical_nociception1.33236484
39MP0008875_abnormal_xenobiotic_pharmacok1.32862229
40MP0003111_abnormal_nucleus_morphology1.30359300
41MP0005647_abnormal_sex_gland1.25984680
42MP0000383_abnormal_hair_follicle1.25904155
43MP0002234_abnormal_pharynx_morphology1.24673235
44MP0005389_reproductive_system_phenotype1.22938700
45MP0005551_abnormal_eye_electrophysiolog1.22536508
46MP0010094_abnormal_chromosome_stability1.22288789
47MP0002161_abnormal_fertility/fecundity1.22224621
48MP0000653_abnormal_sex_gland1.21007005
49MP0004215_abnormal_myocardial_fiber1.16474533
50MP0002139_abnormal_hepatobiliary_system1.15819087
51MP0003698_abnormal_male_reproductive1.15186370
52MP0001919_abnormal_reproductive_system1.14365187
53MP0005397_hematopoietic_system_phenotyp1.12032768
54MP0001545_abnormal_hematopoietic_system1.12032768
55MP0008004_abnormal_stomach_pH1.11359342
56MP0001348_abnormal_lacrimal_gland1.08528775
57MP0005646_abnormal_pituitary_gland1.07144049
58MP0000678_abnormal_parathyroid_gland1.04822623
59MP0001293_anophthalmia1.04485741
60MP0003632_abnormal_nervous_system1.00558531
61MP0002138_abnormal_hepatobiliary_system1.00201875
62MP0000049_abnormal_middle_ear0.97749191
63MP0009333_abnormal_splenocyte_physiolog0.94735848
64MP0005670_abnormal_white_adipose0.92639037
65MP0001119_abnormal_female_reproductive0.92369749
66MP0001324_abnormal_eye_pigmentation0.89610958
67MP0002277_abnormal_respiratory_mucosa0.89370692
68MP0001177_atelectasis0.88452820
69MP0010678_abnormal_skin_adnexa0.85899060
70MP0005464_abnormal_platelet_physiology0.85236413
71MP0001661_extended_life_span0.84712491
72MP0009379_abnormal_foot_pigmentation0.84547075
73MP0001145_abnormal_male_reproductive0.83398053
74MP0006138_congestive_heart_failure0.82184356
75MP0000026_abnormal_inner_ear0.80475314
76MP0003959_abnormal_lean_body0.79314997
77MP0000733_abnormal_muscle_development0.78479948
78MP0002177_abnormal_outer_ear0.77693730
79MP0001727_abnormal_embryo_implantation0.77670487
80MP0003183_abnormal_peptide_metabolism0.76782200
81MP0001905_abnormal_dopamine_level0.74026234
82MP0005423_abnormal_somatic_nervous0.73466652
83MP0002095_abnormal_skin_pigmentation0.73082559
84MP0003806_abnormal_nucleotide_metabolis0.72200789
85MP0001486_abnormal_startle_reflex0.71230545
86MP0001730_embryonic_growth_arrest0.70401682
87MP0008932_abnormal_embryonic_tissue0.67507345
88MP0002272_abnormal_nervous_system0.66123845
89MP0002837_dystrophic_cardiac_calcinosis0.64559542
90MP0008058_abnormal_DNA_repair0.62698757
91MP0002132_abnormal_respiratory_system0.61937398
92MP0004142_abnormal_muscle_tone0.58694433
93MP0002736_abnormal_nociception_after0.58308803
94MP0005319_abnormal_enzyme/_coenzyme0.57717347
95MP0010234_abnormal_vibrissa_follicle0.57573466
96MP0005386_behavior/neurological_phenoty0.56723851
97MP0004924_abnormal_behavior0.56723851
98MP0001765_abnormal_ion_homeostasis0.56631273
99MP0000428_abnormal_craniofacial_morphol0.56110641
100MP0003195_calcinosis0.56053644

Predicted human phenotypes

RankGene SetZ-score
1Anterior segment dysgenesis (HP:0007700)5.52153701
2Male infertility (HP:0003251)4.84076678
3Absent rod-and cone-mediated responses on ERG (HP:0007688)4.42667760
4Cerebellar dysplasia (HP:0007033)4.32799062
5Mixed hearing impairment (HP:0000410)3.84740980
6Attenuation of retinal blood vessels (HP:0007843)3.84174961
7Papillary thyroid carcinoma (HP:0002895)3.75470826
8Pendular nystagmus (HP:0012043)3.69239524
9Metaphyseal dysplasia (HP:0100255)3.59334776
10Aplasia/Hypoplasia of the fovea (HP:0008060)3.54933802
11Hypoplasia of the fovea (HP:0007750)3.54933802
12Birth length less than 3rd percentile (HP:0003561)3.51031533
13Premature ovarian failure (HP:0008209)3.49840808
14Infertility (HP:0000789)3.44318981
15Abnormal rod and cone electroretinograms (HP:0008323)3.33180923
16Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.30438430
17Abdominal situs inversus (HP:0003363)3.30133833
18Abnormality of abdominal situs (HP:0011620)3.30133833
19Retinal dysplasia (HP:0007973)3.29049900
20Type II lissencephaly (HP:0007260)3.20348346
21Impulsivity (HP:0100710)3.20174620
22Male pseudohermaphroditism (HP:0000037)3.01174690
23Osteomalacia (HP:0002749)2.97894297
24Hypophosphatemic rickets (HP:0004912)2.83307068
25Congenital sensorineural hearing impairment (HP:0008527)2.83188009
26Steatorrhea (HP:0002570)2.82728030
27Atonic seizures (HP:0010819)2.80815962
28Septo-optic dysplasia (HP:0100842)2.78238378
29Abnormality of the fovea (HP:0000493)2.75752307
30Malnutrition (HP:0004395)2.71543846
31Constricted visual fields (HP:0001133)2.70466193
32Abnormality of the preputium (HP:0100587)2.66864147
33Decreased circulating renin level (HP:0003351)2.66433369
34Loss of speech (HP:0002371)2.66302999
35Azoospermia (HP:0000027)2.63030161
36Absent thumb (HP:0009777)2.62824117
37Biliary tract neoplasm (HP:0100574)2.62151488
38Aplasia/Hypoplasia of the uvula (HP:0010293)2.61381862
39Abnormality of the anterior chamber (HP:0000593)2.56551653
40Meckel diverticulum (HP:0002245)2.55615308
41Proximal tubulopathy (HP:0000114)2.54728697
42Hypercortisolism (HP:0001578)2.46454479
43Abnormality of the ileum (HP:0001549)2.44108012
44Abnormal spermatogenesis (HP:0008669)2.42852037
45Decreased central vision (HP:0007663)2.41383900
46Neonatal respiratory distress (HP:0002643)2.35841082
47Duodenal stenosis (HP:0100867)2.34276767
48Small intestinal stenosis (HP:0012848)2.34276767
49Abnormality of the parathyroid morphology (HP:0011766)2.31309746
50Nausea (HP:0002018)2.29968433
51Abnormal hemoglobin (HP:0011902)2.29846705
52Facial hemangioma (HP:0000329)2.29553338
53Supernumerary spleens (HP:0009799)2.28693724
54Short tibia (HP:0005736)2.24483935
55Clubbing of toes (HP:0100760)2.23763215
56Abnormal ciliary motility (HP:0012262)2.23298731
57Fat malabsorption (HP:0002630)2.19904184
58Rhinitis (HP:0012384)2.18606873
59Pancreatic cysts (HP:0001737)2.13910426
60Abnormal auditory evoked potentials (HP:0006958)2.13887587
61Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.10357917
62Abnormality of the costochondral junction (HP:0000919)2.09829494
63Albinism (HP:0001022)2.07975060
64Abnormal biliary tract morphology (HP:0012440)2.06677866
65Aplasia/Hypoplasia of the tibia (HP:0005772)2.05547731
66Absent septum pellucidum (HP:0001331)2.04913510
67Breast hypoplasia (HP:0003187)2.04589096
68Gonadal dysgenesis (HP:0000133)2.04033494
69Bony spicule pigmentary retinopathy (HP:0007737)2.01254537
70Abolished electroretinogram (ERG) (HP:0000550)1.99409004
71Molar tooth sign on MRI (HP:0002419)1.98654783
72Abnormality of midbrain morphology (HP:0002418)1.98654783
73Aplasia/Hypoplasia of the macula (HP:0008059)1.98566294
74Thyroid carcinoma (HP:0002890)1.98125878
75Progressive inability to walk (HP:0002505)1.97113120
76Increased neuronal autofluorescent lipopigment (HP:0002074)1.96514589
77Lip pit (HP:0100267)1.96299870
78Abnormality of the duodenum (HP:0002246)1.93355608
79Cerebral palsy (HP:0100021)1.88545188
80Bundle branch block (HP:0011710)1.88135558
81Sensory axonal neuropathy (HP:0003390)1.87472500
82Abnormal respiratory motile cilium physiology (HP:0012261)1.87462545
83Severe visual impairment (HP:0001141)1.86687196
84Abnormality of the septum pellucidum (HP:0007375)1.86106997
85Abnormality of chromosome stability (HP:0003220)1.83805820
86Microtia (HP:0008551)1.82789417
87Increased circulating renin level (HP:0000848)1.82128759
88Nephroblastoma (Wilms tumor) (HP:0002667)1.81711910
89Aplasia/Hypoplasia affecting the retina (HP:0008061)1.80833509
90Aplasia/Hypoplasia involving the musculature (HP:0001460)1.79909240
91Photophobia (HP:0000613)1.78905423
92Embryonal renal neoplasm (HP:0011794)1.78097514
93Macular degeneration (HP:0000608)1.76874398
94Retinal atrophy (HP:0001105)1.76240503
95Ileus (HP:0002595)1.75795061
96Stenosis of the external auditory canal (HP:0000402)1.75212453
97Aplasia/Hypoplasia of the tongue (HP:0010295)1.75090307
98Carpal bone hypoplasia (HP:0001498)1.74531980
99Triphalangeal thumb (HP:0001199)1.74122819
100Generalized aminoaciduria (HP:0002909)1.73242226

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS16.58264756
2INSRR6.14242410
3NUAK13.79567418
4STK33.58438116
5BUB13.19370815
6BRD43.00297809
7CDK192.99184212
8NEK62.87660681
9BRSK22.75745091
10NEK22.44939170
11PNCK2.23635692
12MAP3K92.10216110
13TTK1.80063900
14BRSK11.77471370
15MAP3K131.74930508
16TAOK31.68591859
17CDK71.64345136
18ACVR1B1.52067336
19STK241.48305024
20STK161.47749511
21MAP2K31.41458888
22WEE11.38109681
23MST41.30506725
24TNIK1.28670682
25AURKA1.24467568
26PLK11.20231543
27EIF2AK31.19598938
28WNK31.18448810
29PBK1.18343067
30ARAF1.18169783
31MATK1.16984178
32JAK31.14625279
33MAP3K31.08977765
34PRKCQ1.06276961
35MET1.04077463
36PRKCI0.99890281
37NME20.94439901
38CDC70.94097364
39ICK0.87223680
40TRIM280.86961968
41ZAK0.85379800
42CCNB10.82380382
43CHEK20.81461618
44MARK30.79940812
45BRAF0.73058807
46TAOK20.72687054
47CDK120.70340318
48MAPK110.70087731
49TNK20.67543989
50TESK20.65103990
51PKN10.64301795
52PRKG10.58732059
53ADRBK20.57718559
54PRKCG0.55722140
55PLK30.55352544
56TXK0.50191002
57IRAK10.48560994
58CHEK10.46929966
59CDK90.46843058
60PTK2B0.46414963
61SMG10.46301993
62MAP3K80.46008638
63STK390.44402687
64PRPF4B0.43753619
65TGFBR10.43044046
66CDK20.42761352
67DYRK30.42400470
68AURKB0.39668166
69EGFR0.39416635
70PRKACA0.38078043
71KSR20.36208787
72MAP2K10.35451130
73CDK10.33530593
74NME10.32912660
75PAK10.31322287
76LRRK20.29853791
77CSNK1D0.28216345
78CLK10.27419405
79PDK10.27320197
80STK100.26151555
81ATR0.25804845
82NEK90.25245346
83NTRK20.25178247
84BMPR1B0.24454678
85BMX0.22788513
86OXSR10.22743438
87PRKAA10.21947359
88MOS0.21785441
89PLK40.20693157
90GRK10.19418530
91PRKACG0.18944567
92PRKCA0.18343094
93ATM0.17681735
94MAPK10.17241668
95BMPR20.16437257
96ADRBK10.15619839
97MAP3K70.15072985
98NTRK30.14632315
99GSK3B0.14594373
100SCYL20.14113212

Predicted pathways (KEGG)

RankGene SetZ-score
1Basal transcription factors_Homo sapiens_hsa030224.06747076
2SNARE interactions in vesicular transport_Homo sapiens_hsa041303.25931090
3Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.13789649
4Ovarian steroidogenesis_Homo sapiens_hsa049133.12562997
5Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006013.06054205
6Caffeine metabolism_Homo sapiens_hsa002322.95712820
7Linoleic acid metabolism_Homo sapiens_hsa005912.76350176
8Cell cycle_Homo sapiens_hsa041102.75305197
9Phototransduction_Homo sapiens_hsa047442.58307311
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.49044318
11Fanconi anemia pathway_Homo sapiens_hsa034602.48939991
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.34022401
13RNA polymerase_Homo sapiens_hsa030202.33785255
14Olfactory transduction_Homo sapiens_hsa047402.22163417
15Homologous recombination_Homo sapiens_hsa034402.15887234
16Oocyte meiosis_Homo sapiens_hsa041142.02806684
17RNA transport_Homo sapiens_hsa030131.90793949
18Cysteine and methionine metabolism_Homo sapiens_hsa002701.89827826
19ABC transporters_Homo sapiens_hsa020101.89405447
20Ribosome_Homo sapiens_hsa030101.82155424
21Folate biosynthesis_Homo sapiens_hsa007901.70116426
22p53 signaling pathway_Homo sapiens_hsa041151.65991390
23mRNA surveillance pathway_Homo sapiens_hsa030151.51214924
24Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.47230558
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.45030427
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.41802084
27Arachidonic acid metabolism_Homo sapiens_hsa005901.31754198
28Histidine metabolism_Homo sapiens_hsa003401.19948227
29Glycosaminoglycan degradation_Homo sapiens_hsa005311.19423727
30Nitrogen metabolism_Homo sapiens_hsa009101.17477256
31Ether lipid metabolism_Homo sapiens_hsa005651.14513779
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.10494128
33Glycerophospholipid metabolism_Homo sapiens_hsa005641.10046768
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.04659349
35Retinol metabolism_Homo sapiens_hsa008301.02707383
36Mismatch repair_Homo sapiens_hsa034301.01095802
37RNA degradation_Homo sapiens_hsa030180.97299022
38* Taste transduction_Homo sapiens_hsa047420.89154769
39Tryptophan metabolism_Homo sapiens_hsa003800.88522234
40Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.87475544
41Regulation of autophagy_Homo sapiens_hsa041400.84105911
42* Serotonergic synapse_Homo sapiens_hsa047260.83811672
43Sulfur relay system_Homo sapiens_hsa041220.81905427
44Long-term depression_Homo sapiens_hsa047300.80847709
45Pyrimidine metabolism_Homo sapiens_hsa002400.80663214
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.80620684
47Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.77619656
48Purine metabolism_Homo sapiens_hsa002300.77300397
49Dorso-ventral axis formation_Homo sapiens_hsa043200.76952959
50Morphine addiction_Homo sapiens_hsa050320.76170589
51Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.73155536
52Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.72767244
53Base excision repair_Homo sapiens_hsa034100.70698686
54Phenylalanine metabolism_Homo sapiens_hsa003600.69341416
55Nicotine addiction_Homo sapiens_hsa050330.67875954
56Fat digestion and absorption_Homo sapiens_hsa049750.66310200
57Butanoate metabolism_Homo sapiens_hsa006500.64488669
58Selenocompound metabolism_Homo sapiens_hsa004500.64278428
59Glutamatergic synapse_Homo sapiens_hsa047240.60441725
60Steroid hormone biosynthesis_Homo sapiens_hsa001400.58698109
61Glycerolipid metabolism_Homo sapiens_hsa005610.56487897
62Chemical carcinogenesis_Homo sapiens_hsa052040.56472414
63Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53376094
64Drug metabolism - other enzymes_Homo sapiens_hsa009830.53095534
65Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.52267652
66Fatty acid elongation_Homo sapiens_hsa000620.51980954
67Notch signaling pathway_Homo sapiens_hsa043300.51039130
68Arginine and proline metabolism_Homo sapiens_hsa003300.50908999
69Viral carcinogenesis_Homo sapiens_hsa052030.49005033
70Calcium signaling pathway_Homo sapiens_hsa040200.43729010
71Circadian rhythm_Homo sapiens_hsa047100.41838930
72TGF-beta signaling pathway_Homo sapiens_hsa043500.41613843
73Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.41263510
74Bile secretion_Homo sapiens_hsa049760.38556175
75GABAergic synapse_Homo sapiens_hsa047270.38452629
76Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37983190
77Circadian entrainment_Homo sapiens_hsa047130.36070097
78Vitamin digestion and absorption_Homo sapiens_hsa049770.35210175
79Synaptic vesicle cycle_Homo sapiens_hsa047210.35142900
80Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35069371
81Fatty acid degradation_Homo sapiens_hsa000710.34877427
82Platelet activation_Homo sapiens_hsa046110.34869090
83Oxytocin signaling pathway_Homo sapiens_hsa049210.34429253
84DNA replication_Homo sapiens_hsa030300.33419649
85Tyrosine metabolism_Homo sapiens_hsa003500.33407013
86Pancreatic secretion_Homo sapiens_hsa049720.31878487
87MAPK signaling pathway_Homo sapiens_hsa040100.31700706
88beta-Alanine metabolism_Homo sapiens_hsa004100.31136514
89Nucleotide excision repair_Homo sapiens_hsa034200.31066892
90Huntingtons disease_Homo sapiens_hsa050160.31060075
91Metabolic pathways_Homo sapiens_hsa011000.29048367
92NOD-like receptor signaling pathway_Homo sapiens_hsa046210.28663536
93Phospholipase D signaling pathway_Homo sapiens_hsa040720.27708227
94Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27331250
95Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.27235296
96Inositol phosphate metabolism_Homo sapiens_hsa005620.25998400
97Fatty acid biosynthesis_Homo sapiens_hsa000610.25526217
98Ras signaling pathway_Homo sapiens_hsa040140.24324763
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.22278358
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20791362

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