LAMA2

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: Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)5.11924191
2bone trabecula formation (GO:0060346)4.67074151
3cardiac myofibril assembly (GO:0055003)4.66015196
4protein heterotrimerization (GO:0070208)4.43491593
5collagen fibril organization (GO:0030199)4.26414832
6sequestering of extracellular ligand from receptor (GO:0035581)4.24470063
7extracellular fibril organization (GO:0043206)4.11757661
8dermatan sulfate biosynthetic process (GO:0030208)4.02169806
9glomerular basement membrane development (GO:0032836)3.95699883
10regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.95154898
11actin filament-based movement (GO:0030048)3.88806156
12myofibril assembly (GO:0030239)3.88500644
13basement membrane organization (GO:0071711)3.84337648
14atrioventricular valve morphogenesis (GO:0003181)3.76656629
15gonadal mesoderm development (GO:0007506)3.75693834
16trabecula formation (GO:0060343)3.75218620
17dermatan sulfate metabolic process (GO:0030205)3.72640360
18regulation of the force of heart contraction (GO:0002026)3.71345807
19regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.66761932
20regulation of skeletal muscle contraction (GO:0014819)3.63105733
21neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.59498928
22negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.53060112
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.52230944
24heart trabecula formation (GO:0060347)3.51922562
25sarcomere organization (GO:0045214)3.51837140
26muscle tissue morphogenesis (GO:0060415)3.50533000
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.50218996
28regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.49489405
29* myelination in peripheral nervous system (GO:0022011)3.42731482
30* peripheral nervous system axon ensheathment (GO:0032292)3.42731482
31branching involved in salivary gland morphogenesis (GO:0060445)3.42474098
32collagen metabolic process (GO:0032963)3.39524934
33positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.38486187
34fibril organization (GO:0097435)3.37814190
35striated muscle contraction (GO:0006941)3.37733350
36regulation of branching involved in prostate gland morphogenesis (GO:0060687)3.36819756
37cellular response to epinephrine stimulus (GO:0071872)3.36174015
38blood vessel maturation (GO:0001955)3.35742870
39collagen catabolic process (GO:0030574)3.35688379
40negative regulation of heart growth (GO:0061117)3.34255802
41negative regulation of cardiac muscle tissue growth (GO:0055022)3.34255802
42ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.32581439
43sarcoplasmic reticulum calcium ion transport (GO:0070296)3.32542234
44negative regulation of potassium ion transmembrane transport (GO:1901380)3.31864174
45mesenchymal-epithelial cell signaling (GO:0060638)3.27307834
46glomerular filtration (GO:0003094)3.25547737
47multicellular organismal macromolecule metabolic process (GO:0044259)3.24875723
48cell proliferation involved in kidney development (GO:0072111)3.23092470
49plasma membrane repair (GO:0001778)3.21958441
50response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.21359684
51negative regulation of cardiac muscle cell apoptotic process (GO:0010667)3.18968743
52atrial septum morphogenesis (GO:0060413)3.17930413
53actin-myosin filament sliding (GO:0033275)3.16741244
54muscle filament sliding (GO:0030049)3.16741244
55regulation of actin filament-based movement (GO:1903115)3.15785227
56metanephric mesenchyme development (GO:0072075)3.15730659
57regulation of striated muscle contraction (GO:0006942)3.15435247
58craniofacial suture morphogenesis (GO:0097094)3.13369501
59cell communication by electrical coupling (GO:0010644)3.12854679
60negative regulation of protein localization to cell surface (GO:2000009)3.12294421
61multicellular organismal catabolic process (GO:0044243)3.11200066
62endocardial cushion development (GO:0003197)3.10989487
63response to epinephrine (GO:0071871)3.10476314
64response to inactivity (GO:0014854)3.09651358
65retina vasculature morphogenesis in camera-type eye (GO:0061299)3.09503324
66multicellular organismal metabolic process (GO:0044236)3.07709243
67lateral sprouting from an epithelium (GO:0060601)3.06315242
68cell proliferation involved in metanephros development (GO:0072203)3.00091683
69endocardial cushion morphogenesis (GO:0003203)2.99231059
70response to follicle-stimulating hormone (GO:0032354)2.97921196
71heart morphogenesis (GO:0003007)2.95456937
72extracellular matrix disassembly (GO:0022617)2.93712408
73regulation of relaxation of muscle (GO:1901077)2.93014916
74kidney mesenchyme development (GO:0072074)2.92496810
75actin-mediated cell contraction (GO:0070252)2.92210919
76regulation of cardioblast differentiation (GO:0051890)2.91723139
77cardiac muscle adaptation (GO:0014887)2.91263423
78cardiac muscle hypertrophy in response to stress (GO:0014898)2.91263423
79muscle hypertrophy in response to stress (GO:0003299)2.91263423
80adult heart development (GO:0007512)2.89870026
81positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr2.89571946
82regulation of cardiac muscle tissue growth (GO:0055021)2.89538716
83regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.84991957
84striated muscle hypertrophy (GO:0014897)2.84427787
85muscle contraction (GO:0006936)2.84002537
86cardiac chamber formation (GO:0003207)2.82299646
87renal filtration (GO:0097205)2.82086059
88regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.81506263
89actomyosin structure organization (GO:0031032)2.81261033
90muscle cell fate commitment (GO:0042693)2.81053817
91regulation of cardiac muscle cell contraction (GO:0086004)2.80758246
92positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.77875031
93endodermal cell differentiation (GO:0035987)2.76472545
94prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.75637586
95cell communication involved in cardiac conduction (GO:0086065)2.74653374
96negative regulation of catenin import into nucleus (GO:0035414)2.74164826
97vascular endothelial growth factor signaling pathway (GO:0038084)2.73522066
98negative regulation of fatty acid transport (GO:2000192)2.73409539
99regulation of cardiac muscle cell differentiation (GO:2000725)2.72215864
100positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.72141877
101mesenchyme morphogenesis (GO:0072132)2.71964907
102cardiac muscle hypertrophy (GO:0003300)2.71698087
103regulation of cardiac muscle contraction (GO:0055117)2.71499606
104cardiac muscle cell development (GO:0055013)2.71324286
105venous blood vessel morphogenesis (GO:0048845)2.70871321
106extracellular matrix assembly (GO:0085029)2.70290471
107regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 2.70017279
108regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.69989749
109somite development (GO:0061053)2.69446613
110muscle system process (GO:0003012)2.68904220
111cGMP-mediated signaling (GO:0019934)2.68638177
112regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.68455089
113chondroitin sulfate catabolic process (GO:0030207)2.67997784
114barbed-end actin filament capping (GO:0051016)2.67151414
115positive regulation of glycogen biosynthetic process (GO:0045725)2.66779222
116cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.66118748
117glomerulus development (GO:0032835)2.65442828
118ventricular cardiac muscle cell action potential (GO:0086005)2.65158644
119outflow tract septum morphogenesis (GO:0003148)2.65095791
120keratan sulfate catabolic process (GO:0042340)2.64648531
121cardiac muscle contraction (GO:0060048)2.63433683
122cardiac cell development (GO:0055006)2.62529568
123heart contraction (GO:0060047)2.61510084
124heart process (GO:0003015)2.61510084
125smooth muscle tissue development (GO:0048745)2.61041094
126relaxation of cardiac muscle (GO:0055119)2.60415800
127cell migration involved in heart development (GO:0060973)2.59038634
128cardiac muscle tissue morphogenesis (GO:0055008)2.57604991
129cardiac ventricle formation (GO:0003211)2.57006954
130cardiac muscle tissue development (GO:0048738)2.56936837
131fibroblast migration (GO:0010761)2.56677913
132regulation of muscle system process (GO:0090257)2.56533152
133positive regulation of fatty acid oxidation (GO:0046321)2.56355425
134regulation of cardiac muscle hypertrophy (GO:0010611)2.55780978
135regulation of muscle hypertrophy (GO:0014743)2.55363039
136regulation of cardiac muscle tissue development (GO:0055024)2.54699978
137regulation of heart growth (GO:0060420)2.54282427
138lymphangiogenesis (GO:0001946)2.54211604
139striated muscle adaptation (GO:0014888)2.53851160
140heart valve morphogenesis (GO:0003179)2.52714018
141positive regulation of macrophage cytokine production (GO:0060907)2.51195140
142muscle hypertrophy (GO:0014896)2.50801555
143regulation of cell communication by electrical coupling (GO:0010649)2.50244619
144protein targeting to plasma membrane (GO:0072661)2.49229220
145insulin-like growth factor receptor signaling pathway (GO:0048009)2.48830673
146negative regulation of chondrocyte differentiation (GO:0032331)2.47845192

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human3.90704990
2EP300_21415370_ChIP-Seq_HL-1_Mouse2.93685374
3ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.82215273
4HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.72307956
5AR_21572438_ChIP-Seq_LNCaP_Human2.25025260
6* CDX2_19796622_ChIP-Seq_MESCs_Mouse2.22612899
7EZH2_22144423_ChIP-Seq_EOC_Human2.11249300
8SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.09473387
9PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.08294991
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.06340423
11GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.03333772
12EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.97492816
13RARG_19884340_ChIP-ChIP_MEFs_Mouse1.96626258
14EED_16625203_ChIP-ChIP_MESCs_Mouse1.93467058
15EZH2_18974828_ChIP-Seq_MESCs_Mouse1.87422749
16RNF2_18974828_ChIP-Seq_MESCs_Mouse1.87422749
17CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.84338613
18CJUN_26792858_Chip-Seq_BT549_Human1.82036443
19CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.81011965
20CLOCK_20551151_ChIP-Seq_293T_Human1.79197139
21SMAD_19615063_ChIP-ChIP_OVARY_Human1.78569145
22SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.74201666
23SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.71936736
24TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.71355755
25TBX20_22080862_ChIP-Seq_HEART_Mouse1.69779352
26TBX20_22328084_ChIP-Seq_HEART_Mouse1.69779352
27ZNF217_24962896_ChIP-Seq_MCF-7_Human1.68527663
28SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.68420011
29SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.63202701
30DROSHA_22980978_ChIP-Seq_HELA_Human1.58659199
31BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.58452271
32PIAS1_25552417_ChIP-Seq_VCAP_Human1.58167216
33MTF2_20144788_ChIP-Seq_MESCs_Mouse1.56212429
34* TP53_16413492_ChIP-PET_HCT116_Human1.51787970
35ESR1_20079471_ChIP-ChIP_T-47D_Human1.51584891
36EZH2_27304074_Chip-Seq_ESCs_Mouse1.51098291
37WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.48673522
38ESR2_21235772_ChIP-Seq_MCF-7_Human1.45873102
39TP63_17297297_ChIP-ChIP_HaCaT_Human1.44601042
40AHR_22903824_ChIP-Seq_MCF-7_Human1.44184854
41* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.43781295
42* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.43781295
43RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.43396087
44* GBX2_23144817_ChIP-Seq_PC3_Human1.43220848
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.42381292
46STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.41045846
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.40662163
48NFIB_24661679_ChIP-Seq_LUNG_Mouse1.39953725
49WT1_25993318_ChIP-Seq_PODOCYTE_Human1.38575282
50RNF2_27304074_Chip-Seq_ESCs_Mouse1.37536821
51JARID2_20064375_ChIP-Seq_MESCs_Mouse1.37513672
52ISL1_27105846_Chip-Seq_CPCs_Mouse1.37183235
53ESR1_21235772_ChIP-Seq_MCF-7_Human1.35081107
54GATA2_21666600_ChIP-Seq_HMVEC_Human1.34710166
55PPAR_26484153_Chip-Seq_NCI-H1993_Human1.33039840
56AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.31413459
57HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.30403756
58ARNT_22903824_ChIP-Seq_MCF-7_Human1.28881788
59JARID2_20075857_ChIP-Seq_MESCs_Mouse1.28490954
60MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.27840373
61CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.26553658
62* CTNNB1_20460455_ChIP-Seq_HCT116_Human1.24131012
63WT1_19549856_ChIP-ChIP_CCG9911_Human1.22766111
64NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.21770133
65PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.19940083
66SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.19490677
67BRD4_25478319_ChIP-Seq_HGPS_Human1.19099138
68TCF4_18268006_ChIP-ChIP_LS174T_Human1.18409220
69PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.17253923
70SMAD4_21799915_ChIP-Seq_A2780_Human1.16671551
71* BCAT_22108803_ChIP-Seq_LS180_Human1.16625572
72RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.16531157
73FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.16337424
74PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.15423816
75CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.15096138
76ZFP57_27257070_Chip-Seq_ESCs_Mouse1.14473832
77* SOX9_24532713_ChIP-Seq_HFSC_Mouse1.14469118
78SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.14422527
79RBPJ_22232070_ChIP-Seq_NCS_Mouse1.12911694
80TBX3_20139965_ChIP-Seq_ESCs_Mouse1.11650028
81TBX3_20139965_ChIP-Seq_MESCs_Mouse1.11115555
82* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.10760450
83* TP53_18474530_ChIP-ChIP_U2OS_Human1.10114428
84NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.07839493
85SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05972748
86TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.04126419
87EZH2_27294783_Chip-Seq_ESCs_Mouse1.03311960
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.02598970
89NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02290324
90ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.01067767
91OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01010172
92* YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98254513
93* SOX2_21211035_ChIP-Seq_LN229_Gbm0.98175432
94PCGF2_27294783_Chip-Seq_NPCs_Mouse0.98040807
95TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96977400
96SUZ12_27294783_Chip-Seq_ESCs_Mouse0.96904324
97DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.94930411
98* AR_19668381_ChIP-Seq_PC3_Human0.93508681
99GATA1_22025678_ChIP-Seq_K562_Human0.92830294
100RING1B_27294783_Chip-Seq_ESCs_Mouse0.92537152
101SMAD3_21741376_ChIP-Seq_EPCs_Human0.92396777
102FOXA2_19822575_ChIP-Seq_HepG2_Human0.91957065
103SALL4_18804426_ChIP-ChIP_XEN_Mouse0.91801056
104TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.90717424
105SA1_22415368_ChIP-Seq_MEFs_Mouse0.90230785
106* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.90122259
107NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.89893133
108FOXO3_23340844_ChIP-Seq_DLD1_Human0.89572036
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.89054300
110* STAT3_23295773_ChIP-Seq_U87_Human0.89013346
111* TP53_23651856_ChIP-Seq_MEFs_Mouse0.88897164
112ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.88289408
113TP53_20018659_ChIP-ChIP_R1E_Mouse0.87800823
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.86886699
115GATA4_21415370_ChIP-Seq_HL-1_Mouse0.84720765

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen7.23793515
2MP0005503_abnormal_tendon_morphology6.02455633
3MP0005275_abnormal_skin_tensile4.99431086
4* MP0004272_abnormal_basement_membrane3.64499413
5* MP0000751_myopathy3.39817552
6MP0002108_abnormal_muscle_morphology2.90992609
7MP0001958_emphysema2.68135936
8MP0004084_abnormal_cardiac_muscle2.67170291
9MP0002837_dystrophic_cardiac_calcinosis2.61038669
10MP0003279_aneurysm2.27867166
11MP0000749_muscle_degeneration2.27021803
12MP0005330_cardiomyopathy2.14216371
13MP0004215_abnormal_myocardial_fiber2.13209472
14MP0003045_fibrosis2.07688911
15MP0004145_abnormal_muscle_electrophysio2.05955787
16MP0009384_cardiac_valve_regurgitation1.99149476
17MP0003705_abnormal_hypodermis_morpholog1.97274756
18MP0004036_abnormal_muscle_relaxation1.95941176
19MP0005623_abnormal_meninges_morphology1.87028211
20MP0010368_abnormal_lymphatic_system1.85800293
21MP0003950_abnormal_plasma_membrane1.78919798
22MP0008775_abnormal_heart_ventricle1.78599676
23* MP0004087_abnormal_muscle_fiber1.77783914
24MP0005508_abnormal_skeleton_morphology1.77640872
25MP0004510_myositis1.72815105
26* MP0005369_muscle_phenotype1.61120301
27MP0001299_abnormal_eye_distance/1.61030385
28* MP0000750_abnormal_muscle_regeneration1.60661604
29MP0002972_abnormal_cardiac_muscle1.57626381
30MP0005620_abnormal_muscle_contractility1.52911344
31MP0002938_white_spotting1.48117184
32MP0010630_abnormal_cardiac_muscle1.47517772
33* MP0002106_abnormal_muscle_physiology1.43638328
34MP0005171_absent_coat_pigmentation1.43059841
35MP0001542_abnormal_bone_strength1.42140333
36MP0000733_abnormal_muscle_development1.41764137
37MP0006138_congestive_heart_failure1.40550505
38MP0009250_abnormal_appendicular_skeleto1.39769779
39MP0008004_abnormal_stomach_pH1.39555196
40MP0001544_abnormal_cardiovascular_syste1.39528527
41MP0005385_cardiovascular_system_phenoty1.39528527
42MP0002060_abnormal_skin_morphology1.36587369
43MP0005257_abnormal_intraocular_pressure1.36415027
44MP0003828_pulmonary_edema1.36306996
45MP0002295_abnormal_pulmonary_circulatio1.34810517
46MP0009780_abnormal_chondrocyte_physiolo1.34765421
47MP0003646_muscle_fatigue1.34360408
48MP0002168_other_aberrant_phenotype1.30709955
49MP0004130_abnormal_muscle_cell1.24630951
50MP0000428_abnormal_craniofacial_morphol1.23624309
51MP0004233_abnormal_muscle_weight1.21944988
52MP0004484_altered_response_of1.21279866
53MP0005187_abnormal_penis_morphology1.17998087
54MP0003137_abnormal_impulse_conducting1.17958582
55MP0003385_abnormal_body_wall1.17348184
56MP0004134_abnormal_chest_morphology1.15781734
57MP0000767_abnormal_smooth_muscle1.15052135
58MP0005023_abnormal_wound_healing1.14608905
59* MP0000759_abnormal_skeletal_muscle1.14046572
60MP0003136_yellow_coat_color1.07897446
61MP0001879_abnormal_lymphatic_vessel1.03177575
62MP0003567_abnormal_fetal_cardiomyocyte1.03143482
63* MP0000747_muscle_weakness1.03009081
64MP0000013_abnormal_adipose_tissue1.01831910
65MP0003566_abnormal_cell_adhesion1.01464508
66MP0005165_increased_susceptibility_to1.01013689
67MP0000003_abnormal_adipose_tissue1.00253791
68MP0001243_abnormal_dermal_layer0.98069078
69MP0000534_abnormal_ureter_morphology0.98066050
70MP0004085_abnormal_heartbeat0.95781853
71MP0003115_abnormal_respiratory_system0.95357555
72MP0002896_abnormal_bone_mineralization0.91187026
73MP0003941_abnormal_skin_development0.91019945
74MP0005595_abnormal_vascular_smooth0.89034589
75MP0002127_abnormal_cardiovascular_syste0.87174644
76MP0002128_abnormal_blood_circulation0.87032967
77MP0002282_abnormal_trachea_morphology0.86077324
78* MP0002269_muscular_atrophy0.85285978
79MP0000266_abnormal_heart_morphology0.84900193
80MP0003935_abnormal_craniofacial_develop0.84320185
81MP0002332_abnormal_exercise_endurance0.81949333
82MP0003878_abnormal_ear_physiology0.81813532
83MP0005377_hearing/vestibular/ear_phenot0.81813532
84MP0003942_abnormal_urinary_system0.80536677
85MP0002133_abnormal_respiratory_system0.80359741
86MP0005388_respiratory_system_phenotype0.80359741
87MP0005670_abnormal_white_adipose0.80172522
88MP0000462_abnormal_digestive_system0.79985464
89MP0006054_spinal_hemorrhage0.79951086
90MP0005375_adipose_tissue_phenotype0.78955916
91MP0000163_abnormal_cartilage_morphology0.78004191
92MP0005248_abnormal_Harderian_gland0.77769158
93* MP0001661_extended_life_span0.75385063
94MP0004858_abnormal_nervous_system0.74625599
95MP0010030_abnormal_orbit_morphology0.74229136
96MP0002933_joint_inflammation0.74034873
97MP0002925_abnormal_cardiovascular_devel0.73856839
98MP0002115_abnormal_skeleton_extremities0.73493717
99MP0010386_abnormal_urinary_bladder0.69076745
100MP0005666_abnormal_adipose_tissue0.69042113
101MP0002932_abnormal_joint_morphology0.68267537
102MP0003091_abnormal_cell_migration0.67547625
103MP0001614_abnormal_blood_vessel0.66441965
104* MP0000920_abnormal_myelination0.64882352
105MP0000230_abnormal_systemic_arterial0.64002490
106MP0001175_abnormal_lung_morphology0.62500578
107MP0000432_abnormal_head_morphology0.61927658
108MP0005390_skeleton_phenotype0.60815390
109MP0000762_abnormal_tongue_morphology0.60778852
110MP0002009_preneoplasia0.59756289
111MP0002109_abnormal_limb_morphology0.59482169
112MP0005164_abnormal_response_to0.58888292
113* MP0002116_abnormal_craniofacial_bone0.57809147
114MP0000343_altered_response_to0.57166641
115MP0005409_darkened_coat_color0.56349628
116MP0002254_reproductive_system_inflammat0.55291955
117MP0003283_abnormal_digestive_organ0.54423433
118MP0002998_abnormal_bone_remodeling0.53890765

Predicted human phenotypes

RankGene SetZ-score
1Broad metatarsal (HP:0001783)5.89121788
2Protrusio acetabuli (HP:0003179)5.53506185
3Ankle contracture (HP:0006466)5.11356535
4Premature rupture of membranes (HP:0001788)4.61259789
5Type 1 muscle fiber predominance (HP:0003803)4.18275482
6Increased connective tissue (HP:0009025)4.07283366
7Muscle fiber splitting (HP:0003555)4.05513891
8Aortic dissection (HP:0002647)3.99555404
9Ulnar claw (HP:0001178)3.84296067
10Shallow orbits (HP:0000586)3.82044655
11Wrist flexion contracture (HP:0001239)3.78568784
12Bundle branch block (HP:0011710)3.73066608
13Cerebral aneurysm (HP:0004944)3.62521564
14Vascular tortuosity (HP:0004948)3.54830575
15Round ear (HP:0100830)3.48906023
16Soft skin (HP:0000977)3.39326296
17Sudden death (HP:0001699)3.38238395
18Follicular hyperkeratosis (HP:0007502)3.37599221
19Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.29521213
20Atrophic scars (HP:0001075)3.22634336
21Abnormality of the calf musculature (HP:0001430)3.22236574
22Spinal rigidity (HP:0003306)3.20362469
23Nemaline bodies (HP:0003798)3.16804155
24Increased variability in muscle fiber diameter (HP:0003557)3.14890408
25Distal arthrogryposis (HP:0005684)3.11105052
26Muscle fiber inclusion bodies (HP:0100299)3.10306963
27Bladder diverticulum (HP:0000015)3.06090404
28Fragile skin (HP:0001030)3.04699356
29Asymmetric septal hypertrophy (HP:0001670)3.01155753
30Arterial tortuosity (HP:0005116)2.95856413
31Calf muscle hypertrophy (HP:0008981)2.95826141
32Lipoatrophy (HP:0100578)2.94588589
33Short 4th metacarpal (HP:0010044)2.94362207
34Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.94362207
35Hyporeflexia of lower limbs (HP:0002600)2.86869131
36Mildly elevated creatine phosphokinase (HP:0008180)2.86563631
37Segmental peripheral demyelination/remyelination (HP:0003481)2.85427488
38Slender build (HP:0001533)2.83675892
39Midline defect of the nose (HP:0004122)2.80700190
40Aortic aneurysm (HP:0004942)2.80216334
41Ulnar deviation of the wrist (HP:0003049)2.80124919
42Mitral valve prolapse (HP:0001634)2.77117849
43Pulmonary artery stenosis (HP:0004415)2.73938432
44Abnormality of skeletal muscle fiber size (HP:0012084)2.72192170
45Mitral stenosis (HP:0001718)2.68214369
46Muscle hypertrophy of the lower extremities (HP:0008968)2.64064775
47Ventricular tachycardia (HP:0004756)2.62466574
48Abnormality of the parietal bone (HP:0002696)2.61023318
49Distal lower limb muscle weakness (HP:0009053)2.60110255
50Syncope (HP:0001279)2.57911892
51Atrial fibrillation (HP:0005110)2.57517073
52Neck muscle weakness (HP:0000467)2.55355696
53Insidious onset (HP:0003587)2.54153080
54Termporal pattern (HP:0011008)2.54153080
55Right ventricular cardiomyopathy (HP:0011663)2.51745421
56Abnormality of the 4th metacarpal (HP:0010012)2.49839414
57Genu recurvatum (HP:0002816)2.49165508
58Dilatation of the ascending aorta (HP:0005111)2.47892905
59Action tremor (HP:0002345)2.47611910
60Impaired proprioception (HP:0010831)2.47396655
61Hypoplastic ischia (HP:0003175)2.43014158
62Overgrowth (HP:0001548)2.39570633
63Striae distensae (HP:0001065)2.38999429
64Calcaneovalgus deformity (HP:0001848)2.36659108
65Abnormal atrioventricular conduction (HP:0005150)2.35034738
66Aplasia of the musculature (HP:0100854)2.33508100
67Hyperextensible skin (HP:0000974)2.31913971
68Primary atrial arrhythmia (HP:0001692)2.31686324
69Heart block (HP:0012722)2.28589544
70Aplasia involving bones of the upper limbs (HP:0009823)2.28203743
71Aplasia of the phalanges of the hand (HP:0009802)2.28203743
72Aplasia involving bones of the extremities (HP:0009825)2.28203743
73Ventricular arrhythmia (HP:0004308)2.27793254
74Hip contracture (HP:0003273)2.27750119
75Exercise-induced myalgia (HP:0003738)2.26800319
76Bell-shaped thorax (HP:0001591)2.26203726
77Difficulty running (HP:0009046)2.25563132
78Supraventricular arrhythmia (HP:0005115)2.22401703
79Scapular winging (HP:0003691)2.22258624
80Aortic regurgitation (HP:0001659)2.22159891
81Hypoventilation (HP:0002791)2.21833426
82Abnormality of the ischium (HP:0003174)2.21097648
83Deformed tarsal bones (HP:0008119)2.17696763
84Infantile muscular hypotonia (HP:0008947)2.16763205
85Breech presentation (HP:0001623)2.16170713
86Hypoplasia of the iris (HP:0007676)2.15614477
87Supraventricular tachycardia (HP:0004755)2.14617511
88Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.14482180
89Cervical subluxation (HP:0003308)2.13727336
90Limited hip movement (HP:0008800)2.13626977
91Popliteal pterygium (HP:0009756)2.13291683
92Bowel diverticulosis (HP:0005222)2.12403051
93Neoplasm of the heart (HP:0100544)2.11308571
94Flat cornea (HP:0007720)2.10833713
95Abnormal delivery (HP:0001787)2.10626886
96Abnormality of dentin (HP:0010299)2.09308456
97Exercise-induced muscle cramps (HP:0003710)2.08318833
98Steppage gait (HP:0003376)2.08217754
99Trigonocephaly (HP:0000243)2.07684758
100Aneurysm (HP:0002617)2.05590641
101Spondylolisthesis (HP:0003302)2.02790431
102Mitral regurgitation (HP:0001653)2.02522034
103Centrally nucleated skeletal muscle fibers (HP:0003687)2.02197784
104Gowers sign (HP:0003391)2.01762903
105Blue sclerae (HP:0000592)1.99932412
106Toxemia of pregnancy (HP:0100603)1.99280524
107Atrioventricular block (HP:0001678)1.99059867
108Hammertoe (HP:0001765)1.98201864
109Ectopia lentis (HP:0001083)1.96253921
110Dilated cardiomyopathy (HP:0001644)1.95134315
111Biconcave vertebral bodies (HP:0004586)1.93132846
112Osteolytic defects of the phalanges of the hand (HP:0009771)1.93093657
113Osteolytic defects of the hand bones (HP:0009699)1.93093657
114Abnormality of the left ventricular outflow tract (HP:0011103)1.91796419
115Subaortic stenosis (HP:0001682)1.91796419
116Limb-girdle muscle weakness (HP:0003325)1.91740765
117Thin ribs (HP:0000883)1.91559995
118EMG: myopathic abnormalities (HP:0003458)1.91179158
119Joint laxity (HP:0001388)1.90556376
120Bradycardia (HP:0001662)1.90410514
121Peritonitis (HP:0002586)1.89544710
122Abnormality of the sella turcica (HP:0002679)1.89379923
123Prolonged QT interval (HP:0001657)1.89040911
124Knee flexion contracture (HP:0006380)1.88243506
125Thin bony cortex (HP:0002753)1.86935002
126Wide anterior fontanel (HP:0000260)1.86572935
127Broad ribs (HP:0000885)1.86072836
128Alopecia of scalp (HP:0002293)1.85822319
129Short hallux (HP:0010109)1.85535315
130Bronchomalacia (HP:0002780)1.85165939
131Narrow palate (HP:0000189)1.84675208
132Foot dorsiflexor weakness (HP:0009027)1.83702401
133Deformed sella turcica (HP:0002681)1.83628749
134Wormian bones (HP:0002645)1.83140235
135Neonatal short-limb short stature (HP:0008921)1.80749133
136Coronal craniosynostosis (HP:0004440)1.77102690

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS13.62373625
2TTN3.52774217
3PDGFRA2.98569432
4DMPK2.81642374
5OBSCN2.80358780
6FGFR22.50478207
7TRIB32.48586176
8MYLK2.47629198
9SIK12.43572157
10DDR22.38090203
11LMTK22.32196352
12AKT32.24791559
13RIPK12.09667885
14PIK3CA2.04883546
15PHKG12.04820917
16PHKG22.04820917
17TIE12.00695274
18PIK3CG1.95765488
19TGFBR21.93373861
20CAMK1G1.93079401
21CAMK1D1.92237557
22EPHB11.85659952
23INSRR1.73818091
24EPHB21.58003110
25PDGFRB1.43161518
26WNK11.39563350
27PRKD31.37911614
28WNK41.37060834
29PDK31.36623827
30PDK41.36623827
31FER1.30860391
32ROCK11.27271272
33EEF2K1.26264820
34ICK1.25663112
35MUSK1.23465323
36MET1.17324823
37PRKD11.16846336
38STK241.12258027
39MOS1.12058227
40PTK2B1.09893053
41STK391.08358987
42STK31.07562001
43BMX1.06622190
44FGFR11.05776755
45PAK31.04514151
46GRK71.03364614
47ZAK1.02983060
48NUAK11.02562081
49EPHA31.00171556
50RET0.96912232
51LIMK10.96072726
52STK38L0.96052644
53PKN20.93582033
54PAK20.91909621
55LATS20.91536929
56MARK10.91117454
57MAPKAPK30.90739351
58ILK0.89199361
59CDC42BPA0.88855739
60PDK20.88193053
61MARK20.87406937
62PRKCH0.87197811
63ROCK20.86594672
64TRPM70.85877119
65MTOR0.84265830
66MAP3K70.82571948
67FGFR40.82223513
68KIT0.78684132
69PTK60.77315707
70RPS6KA20.77136754
71TYRO30.73460261
72PRKCE0.73090075
73PINK10.71778969
74PRKAA20.70510904
75CAMK2D0.70059297
76PRKD20.68647238
77FGFR30.67890078
78NLK0.66938894
79MELK0.65456092
80PTK20.63279716
81IRAK10.62894062
82SGK30.62570788
83MAP2K10.62299894
84MAP3K40.61932799
85CAMK10.60689468
86CAMK40.60593716
87CAMK2G0.58546538
88ERN10.57294094
89MAP3K50.56593733
90GSK3A0.56199707
91NEK90.55764629
92JAK10.55638936
93CDK120.55607258
94MAPK120.55432027
95RPS6KC10.55001249
96RPS6KL10.55001249
97ADRBK10.54493336
98ABL20.54136418
99FRK0.53621305
100MAPK40.53066801
101BLK0.52559997
102ERBB40.50711511
103PRKAA10.50114947
104MAPK70.46170429
105PRKG10.45347000
106RPS6KA60.45119821
107CAMK2A0.44946468
108STK380.44143130
109SGK20.44030345
110PRKACB0.43275018
111MAPK150.42976657
112SGK4940.42158306
113SGK2230.42158306
114ERBB20.39957262
115FLT30.39591722
116CAMK2B0.39440036
117PKN10.39412636
118IRAK20.39213256
119MST1R0.37798667
120AKT20.37215259
121CSK0.36183628
122PRKG20.36049390
123STK40.34605288
124INSR0.33099280
125NEK60.31215446
126IGF1R0.30825235
127PAK60.30525356
128SRC0.30376899
129PRPF4B0.29638882
130KSR20.28539955
131DAPK30.28438702
132NTRK10.28157474
133MAP3K60.27928088

Predicted pathways (KEGG)

RankGene SetZ-score
1* ECM-receptor interaction_Homo sapiens_hsa045123.84365126
2* Dilated cardiomyopathy_Homo sapiens_hsa054143.29537655
3* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.18070662
4* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.83185238
5Protein digestion and absorption_Homo sapiens_hsa049742.58041188
6* Focal adhesion_Homo sapiens_hsa045102.53557292
7Hedgehog signaling pathway_Homo sapiens_hsa043402.01692049
8Basal cell carcinoma_Homo sapiens_hsa052171.93586130
9* Amoebiasis_Homo sapiens_hsa051461.73516022
10Adherens junction_Homo sapiens_hsa045201.72553085
11Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.71306385
12Proteoglycans in cancer_Homo sapiens_hsa052051.65995030
13Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.57448588
14Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.55172868
15TGF-beta signaling pathway_Homo sapiens_hsa043501.54705188
16Cardiac muscle contraction_Homo sapiens_hsa042601.53548223
17Fatty acid metabolism_Homo sapiens_hsa012121.53542876
18AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.51334220
19* Viral myocarditis_Homo sapiens_hsa054161.50015329
20Dorso-ventral axis formation_Homo sapiens_hsa043201.49962081
21Fatty acid biosynthesis_Homo sapiens_hsa000611.41052674
22Propanoate metabolism_Homo sapiens_hsa006401.40387166
23* Small cell lung cancer_Homo sapiens_hsa052221.40313029
24Fatty acid degradation_Homo sapiens_hsa000711.38180236
25cGMP-PKG signaling pathway_Homo sapiens_hsa040221.24944661
26Lysine degradation_Homo sapiens_hsa003101.24536121
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.24347561
28* PI3K-Akt signaling pathway_Homo sapiens_hsa041511.22158606
29Renin secretion_Homo sapiens_hsa049241.16967695
30Complement and coagulation cascades_Homo sapiens_hsa046101.13490492
31Insulin resistance_Homo sapiens_hsa049311.11863541
32Axon guidance_Homo sapiens_hsa043601.10655606
33Tight junction_Homo sapiens_hsa045301.10476041
34Hippo signaling pathway_Homo sapiens_hsa043901.08708227
35Adipocytokine signaling pathway_Homo sapiens_hsa049201.08304435
36Thyroid hormone signaling pathway_Homo sapiens_hsa049191.07657500
37Regulation of actin cytoskeleton_Homo sapiens_hsa048101.07649538
38Vascular smooth muscle contraction_Homo sapiens_hsa042701.07646957
39cAMP signaling pathway_Homo sapiens_hsa040241.06637612
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.06274742
41* Pathways in cancer_Homo sapiens_hsa052001.05843704
42PPAR signaling pathway_Homo sapiens_hsa033201.02485674
43Ovarian steroidogenesis_Homo sapiens_hsa049130.99277384
44Melanoma_Homo sapiens_hsa052180.99262890
45Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.93604337
46MicroRNAs in cancer_Homo sapiens_hsa052060.92826645
47Wnt signaling pathway_Homo sapiens_hsa043100.91728344
48Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.89570361
492-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.89284200
50Prostate cancer_Homo sapiens_hsa052150.84230528
51AMPK signaling pathway_Homo sapiens_hsa041520.83658120
52Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.83090612
53* Toxoplasmosis_Homo sapiens_hsa051450.82638765
54Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.81671370
55Leukocyte transendothelial migration_Homo sapiens_hsa046700.81228397
56Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81034343
57ABC transporters_Homo sapiens_hsa020100.79383335
58Insulin signaling pathway_Homo sapiens_hsa049100.79350633
59Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.79081338
60Malaria_Homo sapiens_hsa051440.78234884
61Rap1 signaling pathway_Homo sapiens_hsa040150.78021702
62Platelet activation_Homo sapiens_hsa046110.77897808
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.74703182
64Type II diabetes mellitus_Homo sapiens_hsa049300.73850666
65Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.73385996
66Notch signaling pathway_Homo sapiens_hsa043300.72933116
67Longevity regulating pathway - mammal_Homo sapiens_hsa042110.72484274
68Estrogen signaling pathway_Homo sapiens_hsa049150.72377055
69Endometrial cancer_Homo sapiens_hsa052130.71651439
70Oxytocin signaling pathway_Homo sapiens_hsa049210.71557987
71Gastric acid secretion_Homo sapiens_hsa049710.70200628
72Aldosterone synthesis and secretion_Homo sapiens_hsa049250.69583193
73Renal cell carcinoma_Homo sapiens_hsa052110.67782595
74Gap junction_Homo sapiens_hsa045400.67732585
75GnRH signaling pathway_Homo sapiens_hsa049120.67137745
76Glucagon signaling pathway_Homo sapiens_hsa049220.66635088
77Melanogenesis_Homo sapiens_hsa049160.66461030
78Calcium signaling pathway_Homo sapiens_hsa040200.66432286
79Glioma_Homo sapiens_hsa052140.65440957
80Fatty acid elongation_Homo sapiens_hsa000620.65377312
81Central carbon metabolism in cancer_Homo sapiens_hsa052300.64797911
82Glycosaminoglycan degradation_Homo sapiens_hsa005310.64768073
83Chronic myeloid leukemia_Homo sapiens_hsa052200.64173039
84Ras signaling pathway_Homo sapiens_hsa040140.63915402
85Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.63851882
86Phospholipase D signaling pathway_Homo sapiens_hsa040720.60188091
87mTOR signaling pathway_Homo sapiens_hsa041500.59384479
88MAPK signaling pathway_Homo sapiens_hsa040100.58824636
89Renin-angiotensin system_Homo sapiens_hsa046140.56950510
90Colorectal cancer_Homo sapiens_hsa052100.55753417
91Mineral absorption_Homo sapiens_hsa049780.53523963
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.53198533
93ErbB signaling pathway_Homo sapiens_hsa040120.50474267
94Circadian entrainment_Homo sapiens_hsa047130.50470217
95Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.50099346
96Pancreatic cancer_Homo sapiens_hsa052120.49926872
97Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49876984
98Long-term potentiation_Homo sapiens_hsa047200.47694336
99Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47262658
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.47148861
101Insulin secretion_Homo sapiens_hsa049110.46212610
102Thyroid hormone synthesis_Homo sapiens_hsa049180.45020724
103Prion diseases_Homo sapiens_hsa050200.43702857
104Bladder cancer_Homo sapiens_hsa052190.42329865
105Neurotrophin signaling pathway_Homo sapiens_hsa047220.40760594
106Tyrosine metabolism_Homo sapiens_hsa003500.40749569
107Salivary secretion_Homo sapiens_hsa049700.40353076
108Phenylalanine metabolism_Homo sapiens_hsa003600.40316173
109Circadian rhythm_Homo sapiens_hsa047100.40274834
110Cocaine addiction_Homo sapiens_hsa050300.39514099
111Cholinergic synapse_Homo sapiens_hsa047250.39333302
112FoxO signaling pathway_Homo sapiens_hsa040680.37857234
113Choline metabolism in cancer_Homo sapiens_hsa052310.34953034
114Pancreatic secretion_Homo sapiens_hsa049720.34885856
115Nitrogen metabolism_Homo sapiens_hsa009100.34634461
116HIF-1 signaling pathway_Homo sapiens_hsa040660.33921473
117Bile secretion_Homo sapiens_hsa049760.33322936

Most similar genes based on co-expression Upload to Enrichr

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