AutismKB 2.0

Annotation Detail for MC1R


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MC1R ( CMM5,MGC14337,MSH-R,SHEP2 )
Gene Full Name: melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Band: 16q24.3
Quick LinksEntrez ID:4157; OMIM: 155555; Uniprot ID:MSHR_HUMAN; ENSEMBL ID: ENSG00000258947; HGNC ID: 6929
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04916Melanogenesis
hsa04080Neuroactive ligand-receptor interaction
Pathway IDPathway Name
Signaling by GPCR
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1702Skin tumor
1759Skin cancer
2009Sarcoma
2068Skin disease
Desease Name
Blond vs brown hair color
Black vs red hair color
skin cancer
squamous cell carcinoma
vulvar vestibulitis syndrome
skin cancer, nonmelanoma
solar lentigines
melanoma, cutaneous
tanning
prostate cancer
melanoma
CANCER
freckles
oculocutaneous albinism type 2
breast cancer melanoma
skin sensitivity to sun
cutaneous melanoma which is largely independent of skin type and hair color
Carcinoma, Basal Cell
DEVELOPMENTAL
red vs non-red hair color
ephelides
Skin Neoplasms
Desease Name
Skin sensitivity to sun
Red vs non-red hair color
Tanning
Melanoma
Hair color
Blond vs. brown hair color
Freckling
Freckles
Black vs. red hair color
Desease Name
Analgesia from kappa-opioid receptor agonist, female-specific
Oculocutaneous albinism, type II, modifier of
Skin/hair/eye pigmentation 2, blond hair/fair skin
UV-induced skin damage
Melanoma susceptibility 5
Skin/hair/eye pigmentation 2, red hair/fair skin
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of MC1R mRNAaffects expression 17562736
C006632 arsenic trioxide arsenic trioxide results in increased expression of MC1R mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MC1R mRNAdecreases expression 20106945
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MC1R mRNAdecreases expression 20382639
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of MC1R exonincreases mutagenesis 16300676
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of MC1R promoterincreases mutagenesis 16300676
C030374 indole indole analog binds to MC1R proteinaffects binding 11909711
C031721 naphthalene naphthalene analog binds to MC1R proteinaffects binding 11909711
D010634 Phenobarbital Phenobarbital affects the expression of MC1R mRNAaffects expression 19136022
C121565 pifithrin pifithrin results in decreased expression of MC1R mRNAdecreases expression 19098008
C006253 pirinixic acid pirinixic acid affects the expression of MC1R mRNAaffects expression 19136022
C006253 pirinixic acid pirinixic acid results in decreased expression of MC1R mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of MC1R mRNA]decreases expression|increases reaction 17950772
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.686195326
MESH:D058186 Acute Kidney Injury pifithrin 5.0517670903
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4819825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4820127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 7.266695378
MESH:D000236 Adenoma Ethylnitrosourea 7.266695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.9317620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.9316434500
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.5816206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5819483382
MESH:D001927 Brain Diseases Ethylnitrosourea 5.0414991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.4518412241 16651633 15144691 16436596 16357521
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0117474063 20146248
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002280 Carcinoma, Basal Cell marker/mechanism 18539553
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.693084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.6915553829 14691202 15073043 16217749 11135700
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.6917173139 6705139 1701930 20007298 20935162
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3820889678
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 7.3816003739
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.474080065
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 6.2517160924
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 1.8910525206
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6312153990 17906064 11739529 14725611 19164858 16227642 18071297 16109766 12392966 11834606 16393943 16781746 17562736 19923254 19420014 14986274 11529661 10915739 12705907 17522070 15619225 19416960 10663392 12958197 18713872 19739265 12540782 11287661 16485898 16081117 12594235 11421492 10774834 19085960 11743745 15968718 19370779 2444490 14550746 11461765 16177239
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004421 Dystonia Phenobarbital 4.191851702
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 6.2518357618
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.323659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.143922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9720417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.696401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.263659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4420426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.4412903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4416530937
MESH:D005234 Fatty Liver arsenic trioxide 8.3015073043
MESH:D005234 Fatty Liver pirinixic acid 8.3020131406 19236843
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005909 Glioblastoma Ethylnitrosourea 3.9416436596
MESH:D005910 Glioma Ethylnitrosourea 3.5516651633 18412241 16357521
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7420471113
MESH:D006331 Heart Diseases pifithrin 4.7014766674
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly Phenobarbital 9.2116109766
MESH:D006529 Hepatomegaly pirinixic acid 9.2119176532 16221962 19772884 18467677
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D020244 Infarction, Middle Cerebral Artery pifithrin 5.8919475672
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.0717379185
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9712560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1619850784 16968895 16467208 20471514 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3211468182 16966277 15213294 15748426 17649720 11161223 16891316 17869043 12018890 15622746 12712474 12679006 19075265 16330433 17712046 19225113 9834237 15336539 16112521 17217047 17107899 16331271 19642359 16823087 19035177
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9821047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Acetaminophen 4.0619784758 12969438 16610002 19460945 16611625 19014921 12587719 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.0619363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms arsenic trioxide 11.1814682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.1821137059 20195826
MESH:D008113 Liver Neoplasms Phenobarbital 11.188742319 19482888 21047994 19073162 15975961 19812893
MESH:D008113 Liver Neoplasms pirinixic acid 11.1820007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.3620377131
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.3617172636 1399818 18308698 6150874 2563599
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D055370 Lung Injury naphthalene 5.236834280
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6411798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.6420464547 20064080 17053015 20869020 18816296 6695378 18520028 20135361 18569708
MESH:D008175 Lung Neoplasms Ethylnitrosourea 3.646695378 16019985 17703301 16271038
MESH:D008223 Lymphoma Ethylnitrosourea 4.0615790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.2615375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.6118041768 10767621 10838139
MESH:D008545 Melanoma marker/mechanism 19578364
OMIM:155600 MELANOMA, CUTANEOUS MALIGNANT marker/mechanism
OMIM:613099 MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5 marker/mechanism
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008579 Meningioma Ethylnitrosourea 6.2517943659
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2219417148 11468182 19549372 14977855 15949261
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2316882451 16105982
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7117484760
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009369 Neoplasms Benzo(a)pyrene 5.0811141357
MESH:D009369 Neoplasms pirinixic acid 5.0817405874
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 4.6216707424
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2210525206
MESH:D009442 Neurilemmoma Ethylnitrosourea 5.6517160924 16003739 16651423
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:C537730 Oculocutaneous albinism type 2 marker/mechanism
MESH:D009837 Oligodendroglioma Ethylnitrosourea 6.2517160924
MESH:D010018 Osteomalacia Phenobarbital 4.6017016548
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4512452020 19769630 16624393
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.4815580305
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.4816965848
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D011230 Precancerous Conditions Phenobarbital 3.772563599
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.1419131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1417292933
MESH:D011504 Protein-Losing Enteropathies marker/mechanism
MESH:D019310 Pseudolymphoma Phenobarbital 4.7612752131
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012640 Seizures Phenobarbital 2.804039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.066407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4410029692 19755658
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4017007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D013345 Subarachnoid Hemorrhage pifithrin 6.3218364113
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 5.4015790496
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.6619014326
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.661399818
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2412973940 20435036 12845720 11780464
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2417053015
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D020301 Vasospasm, Intracranial pifithrin 5.8518364113
Pathway ID Pathway Name
KEGG:04916 Melanogenesis
KEGG:04080 Neuroactive ligand-receptor interaction
REACT:14797 Signaling by GPCR
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30673
    • No data
    Releated disease ID Related disease Name
    PA445683Skin Neoplasms
    PA444903Melanoma
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved