UniProt ID |
P98082
|
Protein name |
Disabled homolog 2 (Adaptor molecule disabled-2) (Differentially expressed in ovarian carcinoma 2) (DOC-2) (Differentially-expressed protein 2) |
Protein function |
Adapter protein that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosph |
PDB |
2LSW
,
6O5O
,
6OVF
|
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF00640
|
PID |
50 → 176 |
Phosphotyrosine interaction domain (PTB/PID) |
Domain |
|
Tissue specificity |
TISSUE SPECIFICITY: Expressed in deep invaginations, inclusion cysts and the surface epithelial cells of the ovary. Also expressed in breast epithelial cells, spleen, thymus, prostate, testis, macrophages, fibroblasts, lung epithelial cells, placenta, bra |
Sequence |
MSNEVETSATNGQPDQQAAPKAPSKKEKKKGPEKTDEYLLARFKGDGVKYKAKLIGIDDV PDARGDKMSQDSMMKLKGMAAAGRSQGQHKQRIWVNISLSGIKIIDEKTGVIEHEHPVNK ISFIARDVTDNRAFGYVCGGEGQHQFFAIKTGQQAEPLVVDLKDLFQVIYNVKKKEEEKK KIEEASKAVENGSEALMILDDQTNKLKSGVDQMDLFGDMSTPPDLNSPTESKDILLVDLN SEIDTNQNSLRENPFLTNGITSCSLPRPTPQASFLPENAFSANLNFFPTPNPDPFRDDPF TQPDQSTPSSFDSLKSPDQKKENSSSSSTPLSNGPLNGDVDYFGQQFDQISNRTGKQEAQ AGPWPFSSSQTQPAVRTQNGVSEREQNGFSVKSSPNPFVGSPPKGLSIQNGVKQDLESSV QSSPHDSIAIIPPPQSTKPGRGRRTAKSSANDLLASDIFAPPVSEPSGQASPTGQPTALQ PNPLDLFKTSAPAPVGPLVGLGGVTVTLPQAGPWNTASLVFNQSPSMAPGAMMGGQPSGF SQPVIFGTSPAVSGWNQPSPFAASTPPPVPVVWGPSASVAPNAWSTTSPLGNPFQSNIFP APAVSTQPPSMHSSLLVTPPQPPPRAGPPKDISSDAFTALDPLGDKEIKDVKEMFKDFQL RQPPAVPARKGEQTSSGTLSAFASYFNSKVGIPQENADHDDFDANQLLNKINEPPKPAPR QVSLPVTKSTDNAFENPFFKDSFGSSQASVASSQPVSSEMYRDPFGNPFA
|
|
Sequence length |
770 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Diabetes |
Diabetes |
rs80356611 |
31451708 |
Diabetes mellitus |
Diabetes Mellitus |
rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261 View all (293 more) |
31451708 |
Kidney disease |
Chronic Kidney Diseases |
rs74315342, rs749740335, rs757649673, rs112417755, rs35138315 |
20383146, 22479191 |
Pancreatic cancer |
Malignant neoplasm of pancreas |
rs118203998, rs180177143, rs587776417, rs587776527, rs864622498, rs876659571, rs587778587, rs886039619, rs745533713, rs1555460431 |
22158540 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Systemic lupus erythematosus |
Systemic lupus erythematosus |
|
|
GWAS |
Kidney Disease |
Kidney Disease |
|
|
GWAS |
Gout |
Gout |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenomatous Polyposis Coli |
Associate
|
24259968 |
Attention Deficit Disorder with Hyperactivity |
Associate
|
24571439 |
Autistic Disorder |
Associate
|
24571439 |
Breast Neoplasms |
Associate
|
18567755, 24638085 |
Breast Neoplasms |
Inhibit
|
21063401, 40565366 |
Carcinoma Hepatocellular |
Associate
|
17717605, 31969776, 37324188 |
Carcinoma Lobular |
Associate
|
39207954 |
Carcinoma Ovarian Epithelial |
Associate
|
12365030 |
Carcinoma Pancreatic Ductal |
Inhibit
|
31101868 |
Carcinoma Squamous Cell |
Stimulate
|
35135489 |
Cell Transformation Neoplastic |
Inhibit
|
11359772 |
Cell Transformation Neoplastic |
Associate
|
37815603 |
Colorectal Neoplasms |
Associate
|
14612389, 24259968 |
Colorectal Neoplasms |
Inhibit
|
37510211 |
Coronary Artery Disease |
Associate
|
32629690 |
Coronary Disease |
Associate
|
32629690 |
Diabetes Mellitus Type 2 |
Associate
|
37361044 |
Dyslipidemias |
Associate
|
37361044 |
Endometrial Neoplasms |
Associate
|
21771027 |
Esophageal Neoplasms |
Inhibit
|
17009406 |
Esophageal Squamous Cell Carcinoma |
Inhibit
|
17009406 |
Esophageal Squamous Cell Carcinoma |
Associate
|
27036032 |
Gastrointestinal Neoplasms |
Associate
|
14612389 |
Hereditary Breast and Ovarian Cancer Syndrome |
Inhibit
|
11359772 |
Hyperplasia |
Inhibit
|
17009406 |
Lymphatic Metastasis |
Inhibit
|
27036032 |
Meningioma |
Inhibit
|
24608456 |
Neoplasm Metastasis |
Inhibit
|
17009406 |
Neoplasm Metastasis |
Associate
|
21063401 |
Neoplasms |
Inhibit
|
11359772, 12947006, 19855435, 21063401, 24912918, 27036032, 31101868, 32025216, 37510211, 37815603 |
Neoplasms |
Associate
|
12015763, 12365030, 24608456, 24638085, 27036023, 37686244 |
Ovarian Diseases |
Inhibit
|
12015763 |
Ovarian Diseases |
Associate
|
12365030 |
Ovarian Neoplasms |
Associate
|
12015763, 12365030, 14669280, 15305371, 17009406, 37815603 |
Pancreatic Neoplasms |
Inhibit
|
31101868 |
Renal Insufficiency Chronic |
Associate
|
20383146, 21980298 |
Retinal Dysplasia |
Inhibit
|
17009406 |
Stomach Neoplasms |
Inhibit
|
32025216 |
Thyroid Neoplasms |
Associate
|
37223105 |
Uterine Cervical Neoplasms |
Associate
|
16004614, 26769181 |
|