Annotation Detail for OCA2
Basic Information
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| Gene Symbol: | OCA2 ( BEY,BEY1,BEY2,BOCA,D15S12,EYCL,EYCL2,EYCL3,HCL3,P,PED,SHEP1 ) |
|---|
| Gene Full Name: | oculocutaneous albinism II |
|---|
| Band: | 15q12-q13.1 |
|---|
| Quick Links | Entrez ID:4948; OMIM: 611409; Uniprot ID:P_HUMAN; ENSEMBL ID: ENSG00000104044; HGNC ID: 8101 |
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| Relate to Another Database: |
SFARIGene;
denovo-db |
| Desease ID | Desease Name |
|---|
| H00168 | Oculocutaneous albinism |
| Inherited disorders of amino acid metabolism |
| Genetic disorders |
| Desease Name |
|---|
| Blond vs brown hair color |
| Black vs red hair color |
| Parkinson's disease (age of onset) |
| Blue vs brown eyes |
| NEUROLOGICAL |
| Black vs blond hair color |
| Blue vs green eyes |
| Desease Name |
|---|
| Blue vs. brown eyes |
| Hair color |
| Parkinson's disease (age of onset) |
| Blond vs. brown hair color |
| Eye color |
| Black vs. red hair color |
| Blue vs. green eyes |
| Black vs. blond hair color |
| Desease Name |
|---|
| Skin/hair/eye pigmentation 1, blond/brown hair |
| Albinism, brown oculocutaneous |
| Skin/hair/eye pigmentation 1, blue/nonblue eyes |
| Albinism, oculocutaneous, type II |
| Chemical ID |
Chemical Name |
Interaction |
Interaction Action |
Publication |
|---|
| D005038 |
Ethylnitrosourea |
Ethylnitrosourea results in increased mutagenesis of OCA2 gene | increases mutagenesis | 17174358
|
| D005047 |
Etoposide |
OCA2 protein affects the susceptibility to Etoposide | affects response to substance | 16217747
|
| D008770 |
Methylnitrosourea |
Methylnitrosourea results in increased mutagenesis of OCA2 gene | increases mutagenesis | 10517996
17174358
|
| Disease ID |
Disease Name |
Direct Evidence |
Inference Chemical Name |
Inference Score |
Publication |
|---|
| MESH:D000230 |
Adenocarcinoma |
|
Methylnitrosourea |
3.20 | 15688392 15113128 |
| MESH:D000236 |
Adenoma |
|
Ethylnitrosourea |
3.94 | 6695378 |
| MESH:D019046 |
Bone Marrow Neoplasms |
|
Etoposide |
6.03 | 14601052 |
| MESH:D001927 |
Brain Diseases |
|
Ethylnitrosourea |
5.33 | 14991843 |
| MESH:D001932 |
Brain Neoplasms |
|
Ethylnitrosourea |
4.74 | 15144691 16357521 18412241 16436596 16651633 |
| MESH:D001943 |
Breast Neoplasms |
|
Etoposide |
2.78 | 16322251 |
| MESH:D001943 |
Breast Neoplasms |
|
Methylnitrosourea |
2.78 | 16253758 11306469 14633655 |
| MESH:D002386 |
Cataract |
|
Methylnitrosourea |
4.22 | 12484553 |
| MESH:D002471 |
Cell Transformation, Neoplastic |
|
Ethylnitrosourea |
8.38 | 16003739 |
| MESH:D002471 |
Cell Transformation, Neoplastic |
|
Methylnitrosourea |
8.38 | 7505956 2727394 |
| MESH:D016543 |
Central Nervous System Neoplasms |
|
Ethylnitrosourea |
6.85 | 17160924 |
| MESH:D004476 |
Ectodermal Dysplasia |
|
Ethylnitrosourea |
6.85 | 18357618 |
| MESH:D005354 |
Fibrosarcoma |
|
Methylnitrosourea |
5.97 | 11555667 |
| MESH:D005909 |
Glioblastoma |
|
Ethylnitrosourea |
4.10 | 16436596 |
| MESH:D005910 |
Glioma |
|
Ethylnitrosourea |
7.07 | 16357521 16651633 18412241 |
| MESH:D005910 |
Glioma |
|
Methylnitrosourea |
7.07 | 9825942 |
| MESH:D006561 |
Herpes Simplex |
|
Etoposide |
5.30 | 10809021 |
| MESH:D006689 |
Hodgkin Disease |
|
Etoposide |
4.28 | 15147373 18180244 17606976 16200630 16135485 |
| MESH:D007248 |
Infertility, Male |
|
Methylnitrosourea |
4.07 | 7193160 |
| MESH:D007680 |
Kidney Neoplasms |
|
Ethylnitrosourea |
4.32 | 17379185 |
| MESH:D017880 |
Limb Deformities, Congenital |
|
Methylnitrosourea |
4.51 | 15526292 |
| MESH:D038061 |
Lower Extremity Deformities, Congenital |
|
Methylnitrosourea |
6.12 | 16080182 |
| MESH:D008175 |
Lung Neoplasms |
|
Ethylnitrosourea |
3.21 | 16271038 6695378 17703301 16019985 |
| MESH:D008175 |
Lung Neoplasms |
|
Methylnitrosourea |
3.21 | 18062963 |
| MESH:D008223 |
Lymphoma |
|
Ethylnitrosourea |
14.69 | 15790496 |
| MESH:D008223 |
Lymphoma |
|
Etoposide |
14.69 | 12556972 12854902 |
| MESH:D008223 |
Lymphoma |
|
Methylnitrosourea |
14.69 | 11418001 16257854 |
| MESH:D016393 |
Lymphoma, B-Cell |
|
Methylnitrosourea |
5.30 | 14633661 |
| MESH:D016399 |
Lymphoma, T-Cell |
|
Ethylnitrosourea |
5.70 | 15375218 |
| MESH:D008325 |
Mammary Neoplasms, Experimental |
|
Ethylnitrosourea |
7.56 | 18041768 10767621 10838139 |
| MESH:D008325 |
Mammary Neoplasms, Experimental |
|
Methylnitrosourea |
7.56 | 10767621 19196723 17131329 16051031 11807958 16827153 11751437 14633655 10838139 14999141 12931682 16944150 15113128 15688392 17020996 16619500 15313902 |
| MESH:D008579 |
Meningioma |
|
Ethylnitrosourea |
6.85 | 17943659 |
| MESH:D009369 |
Neoplasms |
|
Methylnitrosourea |
3.48 | 15533788 |
| MESH:D009374 |
Neoplasms, Experimental |
|
Ethylnitrosourea |
11.94 | 16707424 |
| MESH:D009374 |
Neoplasms, Experimental |
|
Methylnitrosourea |
11.94 | 12696579 |
| MESH:D009442 |
Neurilemmoma |
|
Ethylnitrosourea |
15.90 | 16003739 16651423 17160924 |
| MESH:D009442 |
Neurilemmoma |
|
Methylnitrosourea |
15.90 | 11555667 |
| MESH:C537730 |
Oculocutaneous albinism type 2 |
marker/mechanism |
|
| |
| MESH:D009837 |
Oligodendroglioma |
|
Ethylnitrosourea |
6.85 | 17160924 |
| MESH:D010190 |
Pancreatic Neoplasms |
|
Etoposide |
6.31 | 19003803 |
| MESH:D010190 |
Pancreatic Neoplasms |
|
Methylnitrosourea |
6.31 | 16965848 |
| MESH:D011471 |
Prostatic Neoplasms |
|
Etoposide |
3.78 | 17172428 |
| MESH:D011471 |
Prostatic Neoplasms |
|
Methylnitrosourea |
3.78 | 12376480 15682402 |
| MESH:D012162 |
Retinal Degeneration |
|
Methylnitrosourea |
4.74 | 18172121 18155124 |
| MESH:D012175 |
Retinoblastoma |
|
Methylnitrosourea |
6.23 | 11555667 |
| MESH:D012512 |
Sarcoma, Ewing's |
|
Etoposide |
5.29 | 14601052 |
| MESH:D013274 |
Stomach Neoplasms |
|
Methylnitrosourea |
2.70 | 16257854 18593901 15930296 |
| MESH:D013953 |
Thymus Neoplasms |
|
Ethylnitrosourea |
14.92 | 15790496 |
| MESH:D013953 |
Thymus Neoplasms |
|
Methylnitrosourea |
14.92 | 11418001 |
| MESH:D013964 |
Thyroid Neoplasms |
|
Methylnitrosourea |
4.26 | 7505956 3078959 |
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