KRTAP3-2

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 protein is a member of the keratin-associated protein (KAP) family. The KAP proteins form a matrix of keratin intermediate filaments which contribute to the structure of hair fibers. KAP family members appear to have unique, family-specific amino- and carboxyl-terminal regions and are subdivided into three multi-gene families according to amino acid composition: the high sulfur, the ultrahigh sulfur, and the high tyrosine/glycine KAPs. This protein is a member of the high sulfur KAP family and the gene is localized to a cluster of KAPs at 17q12-q21. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1adhesion of symbiont to host cell (GO:0044650)9.63818026
2virion attachment to host cell (GO:0019062)9.63818026
3citrulline biosynthetic process (GO:0019240)8.40122378
4peptide cross-linking (GO:0018149)8.25758493
5adhesion of symbiont to host (GO:0044406)8.17745560
6hair follicle morphogenesis (GO:0031069)7.98353236
7intermediate filament cytoskeleton organization (GO:0045104)6.43400560
8intermediate filament-based process (GO:0045103)6.22258069
9establishment of skin barrier (GO:0061436)6.21962652
10epidermis development (GO:0008544)6.10882845
11cell wall macromolecule metabolic process (GO:0044036)5.99268231
12cell wall macromolecule catabolic process (GO:0016998)5.99268231
13keratinocyte differentiation (GO:0030216)5.95432528
14regulation of water loss via skin (GO:0033561)5.54564606
15citrulline metabolic process (GO:0000052)5.43076338
16hair cycle process (GO:0022405)5.17562482
17molting cycle process (GO:0022404)5.17562482
18hemidesmosome assembly (GO:0031581)5.12887334
19bundle of His cell to Purkinje myocyte communication (GO:0086069)4.96519145
20skin morphogenesis (GO:0043589)4.81164532
21epidermal cell differentiation (GO:0009913)4.65399830
22peptidyl-arginine modification (GO:0018195)4.48436144
23tooth mineralization (GO:0034505)4.13311412
24hair cycle (GO:0042633)33.5104281
25molting cycle (GO:0042303)33.5104281
26keratinocyte development (GO:0003334)3.82411272
27multicellular organismal water homeostasis (GO:0050891)3.70092987
28positive regulation of hair cycle (GO:0042635)3.46934564
29positive regulation of hair follicle development (GO:0051798)3.46934564
30negative regulation of keratinocyte proliferation (GO:0010839)3.44311463
31regulation of keratinocyte differentiation (GO:0045616)3.37201326
32phosphatidylinositol acyl-chain remodeling (GO:0036149)3.33032281
33hair follicle development (GO:0001942)3.08046352
34regulation of hair follicle development (GO:0051797)3.04863413
35phosphatidylserine acyl-chain remodeling (GO:0036150)3.03982420
36water homeostasis (GO:0030104)3.03832802
37positive regulation of meiotic cell cycle (GO:0051446)2.98149099
38negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.94956896
39wound healing, spreading of epidermal cells (GO:0035313)2.92353216
40positive regulation of monocyte chemotaxis (GO:0090026)2.91114393
41bone trabecula formation (GO:0060346)2.88593065
42epithelium development (GO:0060429)2.88528875
43fatty acid elongation (GO:0030497)2.86945801
44positive regulation of epidermis development (GO:0045684)2.78602335
45atrioventricular valve morphogenesis (GO:0003181)2.78367967
46regulation of hair cycle (GO:0042634)2.76316792
47phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.69780585
48ectoderm development (GO:0007398)2.68667876
49regulation of epidermal cell differentiation (GO:0045604)2.53856397
50epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)2.53081133
51gap junction assembly (GO:0016264)2.51576088
52regulation of mesenchymal cell apoptotic process (GO:2001053)2.45805623
53regulation of epidermis development (GO:0045682)2.43269218
54negative regulation of protein localization to plasma membrane (GO:1903077)2.41012616
55negative regulation of cell fate specification (GO:0009996)2.30180378
56phosphatidylserine metabolic process (GO:0006658)2.28309835
57cell surface receptor signaling pathway involved in heart development (GO:0061311)2.27859398
58positive regulation of epidermal cell differentiation (GO:0045606)2.25305909
59regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.21069478
60regulation of ruffle assembly (GO:1900027)2.20813493
61keratinocyte proliferation (GO:0043616)2.19651610
62wound healing, spreading of cells (GO:0044319)2.18740456
63phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.17173819
64lymph vessel development (GO:0001945)2.12480550
65ventricular cardiac muscle cell action potential (GO:0086005)2.11357903
66cranial suture morphogenesis (GO:0060363)2.08128377
67regulation of monocyte chemotaxis (GO:0090025)2.07094839
68skin development (GO:0043588)2.00492112
69keratinization (GO:0031424)12.6000391
70intermediate filament organization (GO:0045109)11.7352553
71desmosome organization (GO:0002934)10.2242239
72regulation of type B pancreatic cell apoptotic process (GO:2000674)1.98570912
73negative regulation of epidermis development (GO:0045683)1.98196369
74myotube differentiation (GO:0014902)1.95218014
75aging (GO:0007568)1.93633190
76phosphatidylcholine acyl-chain remodeling (GO:0036151)1.93339312
77regulation of cardioblast differentiation (GO:0051890)1.92448452
78regulation of keratinocyte proliferation (GO:0010837)1.89305986
79outflow tract septum morphogenesis (GO:0003148)1.88287492
80regulation of heart rate by cardiac conduction (GO:0086091)1.82033370
81epithelial cell-cell adhesion (GO:0090136)1.80449963
82cell-substrate junction assembly (GO:0007044)1.74228960
83response to UV-B (GO:0010224)1.74116464
84planar cell polarity pathway involved in neural tube closure (GO:0090179)1.73460640
85antigen processing and presentation of endogenous peptide antigen (GO:0002483)1.72808472
86antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)1.72808472
87ephrin receptor signaling pathway (GO:0048013)1.72022498
88positive regulation of protein export from nucleus (GO:0046827)1.70036808
89G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)1.68504582
90regulation of transcription from RNA polymerase II promoter involved in heart development (GO:1901211.67458356
91negative regulation of epidermal cell differentiation (GO:0045605)1.66153243
92alditol phosphate metabolic process (GO:0052646)1.65280311
93cardiac right ventricle morphogenesis (GO:0003215)1.65084779
94primary alcohol catabolic process (GO:0034310)1.63334048
95cell communication involved in cardiac conduction (GO:0086065)1.62276336
96long-chain fatty acid biosynthetic process (GO:0042759)1.62244933
97non-canonical Wnt signaling pathway (GO:0035567)1.61717727
98regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)1.61502399
99cytoskeletal anchoring at plasma membrane (GO:0007016)1.61159873
100cardiac epithelial to mesenchymal transition (GO:0060317)1.60594702

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat6.62163299
2CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human4.61756480
3P63_26484246_Chip-Seq_KERATINOCYTES_Human3.60668995
4TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.16678782
5CTCF_20526341_ChIP-Seq_ESCs_Human2.17689355
6PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.11915620
7BMI1_19503595_ChIP-Seq_MEFsC_Mouse2.11849026
8TP63_17297297_ChIP-ChIP_HaCaT_Human12.8490342
9EGR1_19032775_ChIP-ChIP_M12_Human1.83474338
10* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.81568429
11SOX9_24532713_ChIP-Seq_HFSC_Mouse1.76071050
12VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.70780470
13ERG_20517297_ChIP-Seq_VCAP_Human1.67911482
14* TAF2_19829295_ChIP-Seq_ESCs_Human1.61542021
15P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.59596225
16SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.59333852
17SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.59333852
18CSB_26484114_Chip-Seq_FIBROBLAST_Human1.57952317
19SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.56929495
20E2F1_20622854_ChIP-Seq_HELA_Human1.55277982
21FOXO3_23340844_ChIP-Seq_DLD1_Human1.54768163
22CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52769053
23CTCF_27219007_Chip-Seq_Bcells_Human1.47905512
24* NANOG_20526341_ChIP-Seq_ESCs_Human1.44771759
25TRIM28_21343339_ChIP-Seq_HEK293_Human1.42385094
26TP63_22573176_ChIP-Seq_HFKS_Human1.39853035
27ESR1_21235772_ChIP-Seq_MCF-7_Human1.39356891
28AHR_22903824_ChIP-Seq_MCF-7_Human1.36044942
29ARNT_22903824_ChIP-Seq_MCF-7_Human1.35104249
30MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse1.33593533
31* TP53_20018659_ChIP-ChIP_R1E_Mouse1.33378665
32DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31397314
33BCL6_27268052_Chip-Seq_Bcells_Human1.29967158
34* P53_21459846_ChIP-Seq_SAOS-2_Human1.28060170
35SUZ12_27294783_Chip-Seq_ESCs_Mouse1.27643125
36RACK7_27058665_Chip-Seq_MCF-7_Human1.26630822
37TP63_23658742_ChIP-Seq_EP156T_Human1.26308502
38BCOR_27268052_Chip-Seq_Bcells_Human1.25506479
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.25309789
40IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25251722
41ATF3_27146783_Chip-Seq_COLON_Human1.23261133
42LXR_22292898_ChIP-Seq_THP-1_Human1.21662008
43YY1_22570637_ChIP-Seq_MALME-3M_Human1.21019123
44CEBPB_22108803_ChIP-Seq_LS180_Human1.19425329
45RARG_19884340_ChIP-ChIP_MEFs_Mouse1.18535231
46ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.18454009
47UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.16477054
48JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16444702
49JARID2_20075857_ChIP-Seq_MESCs_Mouse1.13910308
50JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11617377
51GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.09742589
52CDX2_19796622_ChIP-Seq_MESCs_Mouse1.09662682
53TP53_18474530_ChIP-ChIP_U2OS_Human1.06830215
54KLF5_25053715_ChIP-Seq_YYC3_Human1.05760163
55SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.02816716
56ELF1_20517297_ChIP-Seq_JURKAT_Human1.02543859
57GATA6_21074721_ChIP-Seq_CACO-2_Human1.01882936
58ELK4_26923725_Chip-Seq_MESODERM_Mouse1.01566033
59GATA4_25053715_ChIP-Seq_YYC3_Human1.01430253
60SOX2_20726797_ChIP-Seq_SW620_Human1.01117984
61KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.00759436
62RXR_22108803_ChIP-Seq_LS180_Human1.00435516
63AR_21572438_ChIP-Seq_LNCaP_Human0.99982121
64UBF1/2_26484160_Chip-Seq_HMECs_Human0.98460056
65PHF8_20622854_ChIP-Seq_HELA_Human0.97860225
66* GATA3_24758297_ChIP-Seq_MCF-7_Human0.95678069
67RAC3_21632823_ChIP-Seq_H3396_Human0.95630243
68TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.94956386
69BMI1_23680149_ChIP-Seq_NPCS_Mouse0.94439673
70KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.93882395
71E2F1_17053090_ChIP-ChIP_MCF-7_Human0.93421830
72ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91934408
73EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.91930975
74SOX2_21211035_ChIP-Seq_LN229_Human0.90354981
75FOXH1_21741376_ChIP-Seq_ESCs_Human0.89543032
76RNF2_27304074_Chip-Seq_ESCs_Mouse0.89538932
77TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88426197
78GATA3_21867929_ChIP-Seq_TH1_Mouse0.87818422
79SMC4_20622854_ChIP-Seq_HELA_Human0.87056649
80SPI1_20517297_ChIP-Seq_HL60_Human0.86860424
81EZH2_27294783_Chip-Seq_ESCs_Mouse0.86192015
82P68_20966046_ChIP-Seq_HELA_Human0.85088096
83RXRA_24833708_ChIP-Seq_LIVER_Mouse0.83339646
84GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.82560418
85SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.82197722
86P300_27058665_Chip-Seq_ZR-75-30cells_Human0.81644027
87RING1B_27294783_Chip-Seq_ESCs_Mouse0.81024431
88SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.80641526
89SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.80197443
90CJUN_26792858_Chip-Seq_BT549_Human0.79604507
91SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.79322024
92SA1_27219007_Chip-Seq_ERYTHROID_Human0.79149004
93EZH2_27304074_Chip-Seq_ESCs_Mouse0.78456649
94ERG_21242973_ChIP-ChIP_JURKAT_Human0.78213839
95RUNX1_27514584_Chip-Seq_MCF-7_Human0.78033248
96PIAS1_25552417_ChIP-Seq_VCAP_Human0.77782969
97SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.74916326
98VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.73310645
99* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.71656765
100GATA3_21878914_ChIP-Seq_MCF-7_Human0.71441539

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002098_abnormal_vibrissa_morphology7.26595161
2MP0000579_abnormal_nail_morphology7.18458391
3MP0000647_abnormal_sebaceous_gland6.33924469
4MP0002796_impaired_skin_barrier6.10145757
5MP0005275_abnormal_skin_tensile5.17719634
6MP0010234_abnormal_vibrissa_follicle4.94279282
7MP0000383_abnormal_hair_follicle4.54567516
8MP0000377_abnormal_hair_follicle3.95565402
9MP0010678_abnormal_skin_adnexa3.95267664
10MP0005501_abnormal_skin_physiology3.77136977
11MP0000427_abnormal_hair_cycle3.29694658
12MP0002254_reproductive_system_inflammat3.27602225
13MP0003705_abnormal_hypodermis_morpholog3.22752177
14MP0004381_abnormal_hair_follicle2.95979639
15MP0001216_abnormal_epidermal_layer2.78429097
16MP0004947_skin_inflammation2.49672707
17MP0010771_integument_phenotype2.41405493
18MP0000367_abnormal_coat/_hair2.40076463
19MP0002060_abnormal_skin_morphology2.32811880
20MP0003453_abnormal_keratinocyte_physiol2.25448544
21MP0001243_abnormal_dermal_layer2.09504861
22MP0002234_abnormal_pharynx_morphology1.82685347
23MP0000467_abnormal_esophagus_morphology1.70532196
24MP0009931_abnormal_skin_appearance1.54230327
25MP0000762_abnormal_tongue_morphology1.49989287
26MP0003941_abnormal_skin_development1.44615195
27MP0003566_abnormal_cell_adhesion1.42920387
28MP0005409_darkened_coat_color1.37552044
29MP0009053_abnormal_anal_canal1.35344057
30MP0001191_abnormal_skin_condition1.11540517
31MP0001346_abnormal_lacrimal_gland1.07080224
32MP0001851_eye_inflammation1.05178466
33MP0002877_abnormal_melanocyte_morpholog0.88016432
34MP0002095_abnormal_skin_pigmentation0.84380566
35MP0004885_abnormal_endolymph0.80338898
36MP0004264_abnormal_extraembryonic_tissu0.76910846
37MP0004185_abnormal_adipocyte_glucose0.75391545
38MP0000627_abnormal_mammary_gland0.73241664
39MP0001340_abnormal_eyelid_morphology0.70717040
40MP0005451_abnormal_body_composition0.69586427
41MP0003315_abnormal_perineum_morphology0.67990470
42MP0008438_abnormal_cutaneous_collagen0.65549757
43MP0001849_ear_inflammation0.58913009
44MP0000566_synostosis0.54355136
45MP0002006_tumorigenesis0.51114324
46MP0003755_abnormal_palate_morphology0.50453994
47MP0003763_abnormal_thymus_physiology0.49823322
48MP0005023_abnormal_wound_healing0.48784722
49MP0002282_abnormal_trachea_morphology0.47984491
50MP0010030_abnormal_orbit_morphology0.45664889
51MP0003191_abnormal_cellular_cholesterol0.43217922
52MP0002009_preneoplasia0.43019596
53MP0001784_abnormal_fluid_regulation0.41534465
54MP0002166_altered_tumor_susceptibility0.36538727
55MP0003436_decreased_susceptibility_to0.35650522
56MP0003448_altered_tumor_morphology0.35542525
57MP0003011_delayed_dark_adaptation0.35066518
58MP0001348_abnormal_lacrimal_gland0.35010510
59MP0002249_abnormal_larynx_morphology0.34860149
60MP0003950_abnormal_plasma_membrane0.34729033
61MP0002111_abnormal_tail_morphology0.34181819
62MP0002177_abnormal_outer_ear0.33690648
63MP0002148_abnormal_hypersensitivity_rea0.33635895
64MP0005075_abnormal_melanosome_morpholog0.33455908
65MP0003385_abnormal_body_wall0.32948720
66MP0003136_yellow_coat_color0.31959296
67MP0002970_abnormal_white_adipose0.31307767
68MP0001661_extended_life_span0.30077221
69MP0000678_abnormal_parathyroid_gland0.28693102
70MP0005248_abnormal_Harderian_gland0.28470507
71MP0004742_abnormal_vestibular_system0.24493309
72MP0010352_gastrointestinal_tract_polyps0.24121227
73MP0000685_abnormal_immune_system0.24069788
74MP0004272_abnormal_basement_membrane0.23618082
75MP0003300_gastrointestinal_ulcer0.22234797
76MP0000465_gastrointestinal_hemorrhage0.22114658
77MP0005025_abnormal_response_to0.20923883
78MP0004019_abnormal_vitamin_homeostasis0.19464191
79MP0005000_abnormal_immune_tolerance0.19411286
80MP0000432_abnormal_head_morphology0.18733816
81MP0005076_abnormal_cell_differentiation0.18670470
82MP0002090_abnormal_vision0.17004223
83MP0000537_abnormal_urethra_morphology0.16957929
84MP0003075_altered_response_to0.16815816
85MP0005171_absent_coat_pigmentation0.16813267
86MP0002697_abnormal_eye_size0.16131104
87MP0005367_renal/urinary_system_phenotyp0.16053756
88MP0000516_abnormal_urinary_system0.16053756
89MP0009785_altered_susceptibility_to0.14988882
90MP0001835_abnormal_antigen_presentation0.14849225
91MP0001188_hyperpigmentation0.14242170
92MP0000750_abnormal_muscle_regeneration0.14008866
93MP0005165_increased_susceptibility_to0.13961244
94MP0000613_abnormal_salivary_gland0.13721451
95MP0002233_abnormal_nose_morphology0.11923383
96MP0003638_abnormal_response/metabolism_0.11054500
97MP0005193_abnormal_anterior_eye0.10930981
98MP0009840_abnormal_foam_cell0.10761587
99MP0001879_abnormal_lymphatic_vessel0.10667168
100MP0003935_abnormal_craniofacial_develop0.09766214

Predicted human phenotypes

RankGene SetZ-score
1Pili torti (HP:0003777)8.50747563
2Nail dystrophy (HP:0008404)7.26192367
3Fragile nails (HP:0001808)5.80651884
4Abnormality of nail color (HP:0100643)5.80043446
5Abnormal hair laboratory examination (HP:0003328)5.36310242
6Fine hair (HP:0002213)5.07134716
7Palmoplantar hyperkeratosis (HP:0000972)5.03405720
8Onycholysis (HP:0001806)4.89704247
9Increased IgE level (HP:0003212)4.89654986
10Alopecia of scalp (HP:0002293)4.79817228
11Thick nail (HP:0001805)4.76766597
12Palmar hyperkeratosis (HP:0010765)4.73382778
13Plantar hyperkeratosis (HP:0007556)4.67899386
14Right ventricular cardiomyopathy (HP:0011663)4.23685396
15Follicular hyperkeratosis (HP:0007502)3.90876143
16Erythema (HP:0010783)3.89044101
17Sparse eyelashes (HP:0000653)3.61919804
18Parakeratosis (HP:0001036)3.54054234
19Amelogenesis imperfecta (HP:0000705)3.30947210
20Erythroderma (HP:0001019)3.29886968
21Milia (HP:0001056)3.23547202
22Oral leukoplakia (HP:0002745)3.01921026
23Abnormality of the frontal sinuses (HP:0002687)2.99615620
24Curly hair (HP:0002212)2.81624786
25Ridged nail (HP:0001807)2.79483573
26Congenital ichthyosiform erythroderma (HP:0007431)2.78213218
27Congenital, generalized hypertrichosis (HP:0004540)2.61308219
28Abnormal blistering of the skin (HP:0008066)2.58036565
29Aplasia cutis congenita (HP:0001057)2.55403435
30Dry hair (HP:0011359)2.44074253
31Intention tremor (HP:0002080)2.41056084
32Neck muscle weakness (HP:0000467)2.39115350
33Hypohidrosis (HP:0000966)2.37384562
34Natal tooth (HP:0000695)2.31737865
35Corneal erosion (HP:0200020)2.30970261
36Advanced eruption of teeth (HP:0006288)2.21298768
37Concave nail (HP:0001598)2.18623217
38Torticollis (HP:0000473)2.18393641
39Pruritus (HP:0000989)2.14811098
40Abnormality of the dental root (HP:0006486)2.04660409
41Taurodontia (HP:0000679)2.04660409
42Abnormality of permanent molar morphology (HP:0011071)2.04660409
43Palmoplantar keratoderma (HP:0000982)2.04118591
44Ventricular tachycardia (HP:0004756)2.04100314
45Hypotrichosis (HP:0001006)14.7810143
46Slow-growing hair (HP:0002217)10.8483969
47Abnormality of hair growth rate (HP:0011363)10.8483969
48Woolly hair (HP:0002224)10.7537568
49Brittle hair (HP:0002299)10.2314625
50Abnormality of molar morphology (HP:0011070)1.99290623
51Abnormality of molar (HP:0011077)1.99290623
52Abnormality of the pupil (HP:0000615)1.97782801
53Abnormality of dental color (HP:0011073)1.96171793
54Abnormality of the dental pulp (HP:0006479)1.83757358
55Abnormality of the parietal bone (HP:0002696)1.82812695
56Gangrene (HP:0100758)1.81626030
57Craniofacial dystonia (HP:0012179)1.78501122
58Difficulty walking (HP:0002355)1.77940759
59Hypergammaglobulinemia (HP:0010702)1.75977761
60Fatigable weakness (HP:0003473)1.75310442
61Abnormality of the neuromuscular junction (HP:0003398)1.75310442
62Conjunctival hamartoma (HP:0100780)1.72259241
63Widely patent fontanelles and sutures (HP:0004492)1.69834979
64Recurrent corneal erosions (HP:0000495)1.69390492
65Blepharitis (HP:0000498)1.68867302
66Keratoconjunctivitis sicca (HP:0001097)1.66064282
67Focal dystonia (HP:0004373)1.62828161
68Unilateral renal agenesis (HP:0000122)1.61320890
69Absent eyelashes (HP:0000561)1.60697253
70Ventricular fibrillation (HP:0001663)1.55307084
71Distal lower limb muscle weakness (HP:0009053)1.55239600
72Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.52519079
73Ectropion (HP:0000656)1.50825734
74Lip pit (HP:0100267)1.49557540
75Acanthosis nigricans (HP:0000956)1.48131282
76Keratoconjunctivitis (HP:0001096)1.47313276
77Heterogeneous (HP:0001425)1.46722646
78Abnormality of placental membranes (HP:0011409)1.43374784
79Amniotic constriction ring (HP:0009775)1.43374784
80Carious teeth (HP:0000670)1.42669143
81Recurrent bacterial skin infections (HP:0005406)1.40977886
82Hyporeflexia of lower limbs (HP:0002600)1.39695747
83Sudden death (HP:0001699)1.36078907
84Achilles tendon contracture (HP:0001771)1.34819098
85Atrophic scars (HP:0001075)1.32673787
86Sparse scalp hair (HP:0002209)1.31889097
87Craniofacial hyperostosis (HP:0004493)1.30917492
88Abnormality of the aortic arch (HP:0012303)1.27273053
89Round ear (HP:0100830)1.26827426
90Widely spaced teeth (HP:0000687)1.26281493
91Abnormality of the fingernails (HP:0001231)1.26234112
92Variable expressivity (HP:0003828)1.24650913
93Abnormality of the Achilles tendon (HP:0005109)1.23877611
94Eczematoid dermatitis (HP:0000976)1.23343408
95Anonychia (HP:0001798)1.22853245
96Hyperhidrosis (HP:0000975)1.22787709
97Skin ulcer (HP:0200042)1.20623216
98Autoamputation (HP:0001218)1.19236868
99Urticaria (HP:0001025)1.18760881
100Corneal dystrophy (HP:0001131)1.17950955

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.43908741
2FER4.37007784
3MAPKAPK34.08949743
4MAP3K33.49628764
5ERN13.23622566
6EPHB23.06809820
7MAP3K63.01601509
8BCR2.75581766
9TAOK12.64394541
10MST1R2.56962952
11MAP3K22.23377557
12PBK2.23331903
13MAP3K112.12238280
14BLK2.09270542
15LATS11.97700866
16PIK3CG1.89270126
17RIPK11.82996260
18EPHB11.73154082
19MST41.72502750
20MAP2K61.58558880
21RPS6KB21.56368331
22MAP3K11.50499603
23TTN1.39956732
24BMX1.36275639
25PIM21.31451935
26CDK61.28827911
27EEF2K1.27818835
28TRIB31.23267484
29MAP2K31.19361131
30FGFR41.16460947
31TRPM71.14990163
32MAPKAPK21.14932341
33DYRK1B1.10677230
34FGFR31.09202731
35EPHA31.03099105
36TYK20.95588193
37FGFR10.91353567
38MET0.91168372
39LRRK20.90264157
40DAPK20.86478103
41TBK10.86186657
42JAK10.85838228
43LATS20.81999413
44TAOK20.77522220
45MAP4K10.77286565
46HCK0.73708676
47ERBB30.72304842
48PAK30.71264119
49MAP3K50.70646554
50ERBB40.69247400
51MAP3K70.67520107
52PTK60.66847687
53IKBKE0.66365317
54RIPK40.65001680
55OBSCN0.62969608
56GSK3A0.61464116
57FGFR20.61070724
58RPS6KA40.60057521
59MAP3K140.59820034
60STK240.58540635
61PTK20.58210662
62CLK10.57777876
63NME10.57722751
64MAP2K10.56840548
65DDR20.54609550
66PRKCH0.52984094
67PRKD10.51130007
68MAP2K40.44536906
69FYN0.43443468
70PDGFRA0.40844809
71PRKCI0.39876112
72NTRK20.39763156
73RPS6KA10.39107289
74MAPKAPK50.38222121
75MAP3K120.38198815
76TNK20.37830481
77JAK20.37540489
78CSK0.36592269
79MAP3K100.36261834
80SIK10.35676428
81CSNK1A10.34484058
82ERBB20.34223362
83KSR20.33264351
84CDK40.32696904
85KIT0.32586753
86MAPK70.31812837
87STK38L0.31327620
88MAPK120.31206202
89MATK0.29816453
90CDK190.29620361
91SRC0.29169204
92TESK10.27334533
93PRKACA0.24568284
94PRKCA0.24465266
95ITK0.24361612
96BRD40.23030117
97PAK40.22930695
98PKN10.21441774
99ABL20.20427043
100GRK60.19984591

Predicted pathways (KEGG)

RankGene SetZ-score
1alpha-Linolenic acid metabolism_Homo sapiens_hsa005924.47762211
2Linoleic acid metabolism_Homo sapiens_hsa005914.41502908
3Fatty acid elongation_Homo sapiens_hsa000622.94785967
4Fat digestion and absorption_Homo sapiens_hsa049752.58947862
5Ether lipid metabolism_Homo sapiens_hsa005652.56080380
6Basal cell carcinoma_Homo sapiens_hsa052171.95575001
7Arachidonic acid metabolism_Homo sapiens_hsa005901.95391617
8Phenylalanine metabolism_Homo sapiens_hsa003601.79006081
9Cyanoamino acid metabolism_Homo sapiens_hsa004601.75907579
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.71937137
11Bladder cancer_Homo sapiens_hsa052191.60990129
12Histidine metabolism_Homo sapiens_hsa003401.45162858
13Axon guidance_Homo sapiens_hsa043601.39036148
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.36738799
15Pertussis_Homo sapiens_hsa051331.35970728
16Steroid biosynthesis_Homo sapiens_hsa001001.31701110
17Melanogenesis_Homo sapiens_hsa049161.30713652
18Staphylococcus aureus infection_Homo sapiens_hsa051501.28384116
19Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.25040661
20VEGF signaling pathway_Homo sapiens_hsa043701.24992667
21Vascular smooth muscle contraction_Homo sapiens_hsa042701.22408373
22Hedgehog signaling pathway_Homo sapiens_hsa043401.21230879
23Proteoglycans in cancer_Homo sapiens_hsa052051.19369241
24Mineral absorption_Homo sapiens_hsa049781.12870108
25Hippo signaling pathway_Homo sapiens_hsa043901.07238829
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.07232868
27Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.02532308
28Salmonella infection_Homo sapiens_hsa051321.02340402
29Acute myeloid leukemia_Homo sapiens_hsa052210.99414754
30GnRH signaling pathway_Homo sapiens_hsa049120.98581419
31Amoebiasis_Homo sapiens_hsa051460.97008942
32Glioma_Homo sapiens_hsa052140.91813318
33Non-small cell lung cancer_Homo sapiens_hsa052230.90531582
34Pancreatic secretion_Homo sapiens_hsa049720.90258640
35ECM-receptor interaction_Homo sapiens_hsa045120.89479065
36Ras signaling pathway_Homo sapiens_hsa040140.87563952
37Adherens junction_Homo sapiens_hsa045200.87275614
38Leishmaniasis_Homo sapiens_hsa051400.86952805
39Leukocyte transendothelial migration_Homo sapiens_hsa046700.86498252
40Toll-like receptor signaling pathway_Homo sapiens_hsa046200.85923290
41Graft-versus-host disease_Homo sapiens_hsa053320.84139539
42Tight junction_Homo sapiens_hsa045300.81481900
43Tuberculosis_Homo sapiens_hsa051520.80326372
44Caffeine metabolism_Homo sapiens_hsa002320.78736452
45Thyroid cancer_Homo sapiens_hsa052160.78143193
46Hepatitis C_Homo sapiens_hsa051600.76680288
47PPAR signaling pathway_Homo sapiens_hsa033200.76663941
48Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75381981
49beta-Alanine metabolism_Homo sapiens_hsa004100.75317796
50Dorso-ventral axis formation_Homo sapiens_hsa043200.74969588
51Tyrosine metabolism_Homo sapiens_hsa003500.74389813
52Toxoplasmosis_Homo sapiens_hsa051450.73887310
53Sphingolipid metabolism_Homo sapiens_hsa006000.73070791
54Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72512143
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.72510989
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.72120603
57TNF signaling pathway_Homo sapiens_hsa046680.69458445
58Long-term potentiation_Homo sapiens_hsa047200.68913916
59Phototransduction_Homo sapiens_hsa047440.68734719
60Malaria_Homo sapiens_hsa051440.68419482
61Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.66640853
62Glycerophospholipid metabolism_Homo sapiens_hsa005640.66041224
63Osteoclast differentiation_Homo sapiens_hsa043800.65414508
64AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.64957323
65Wnt signaling pathway_Homo sapiens_hsa043100.63771340
66Renin secretion_Homo sapiens_hsa049240.63767641
67Endometrial cancer_Homo sapiens_hsa052130.63345151
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.62137132
69Long-term depression_Homo sapiens_hsa047300.61955303
70NOD-like receptor signaling pathway_Homo sapiens_hsa046210.61366861
71Sulfur metabolism_Homo sapiens_hsa009200.61051524
72African trypanosomiasis_Homo sapiens_hsa051430.58898127
73Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.58198957
74Lysosome_Homo sapiens_hsa041420.57947460
75Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57522800
76Retinol metabolism_Homo sapiens_hsa008300.56788861
77Phagosome_Homo sapiens_hsa041450.54447028
78MicroRNAs in cancer_Homo sapiens_hsa052060.53505965
79Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.53460941
80ErbB signaling pathway_Homo sapiens_hsa040120.52428494
81Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.52034543
82Platelet activation_Homo sapiens_hsa046110.51861766
83Legionellosis_Homo sapiens_hsa051340.48725513
84Rheumatoid arthritis_Homo sapiens_hsa053230.48510791
85Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47796770
86Allograft rejection_Homo sapiens_hsa053300.47647710
87Apoptosis_Homo sapiens_hsa042100.47246196
88Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47070139
89T cell receptor signaling pathway_Homo sapiens_hsa046600.46880500
90Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.46584003
91Olfactory transduction_Homo sapiens_hsa047400.45753164
92Rap1 signaling pathway_Homo sapiens_hsa040150.44887491
93Influenza A_Homo sapiens_hsa051640.43871576
94Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43484136
95Chemical carcinogenesis_Homo sapiens_hsa052040.41420221
96Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.41176360
97Oxytocin signaling pathway_Homo sapiens_hsa049210.40027632
98Estrogen signaling pathway_Homo sapiens_hsa049150.38721004
99Fatty acid metabolism_Homo sapiens_hsa012120.38216507
100Chemokine signaling pathway_Homo sapiens_hsa040620.38154119

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