|
UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
|
O60565 |
| Protein name |
Gremlin-1 (Cell proliferation-inducing gene 2 protein) (Cysteine knot superfamily 1, BMP antagonist 1) (DAN domain family member 2) (Down-regulated in Mos-transformed cells protein) (Increased in high glucose protein 2) (IHG-2) |
| Protein function |
Cytokine that may play an important role during carcinogenesis and metanephric kidney organogenesis, as a BMP antagonist required for early limb outgrowth and patterning in maintaining the FGF4-SHH feedback loop. Down-regulates the BMP4 signalin |
| PDB |
5AEJ
, 8B7H
|
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
| PF03045 |
DAN |
71 → 181 |
DAN domain |
Domain |
|
| Tissue specificity |
TISSUE SPECIFICITY: Highly expressed in small intestine, fetal brain and colon. Expression is restricted to intestinal subepithelial myofibroblasts (ISEMFs) at the crypt base. In subjects with HMPS1, by contrast, GREM1 is expressed, not only in basal ISEM |
| Sequence |
|
| Sequence length |
184 |
| Interactions |
View interactions |
| Phenotype Name |
Clinical Significance |
dbSNP ID |
RCV Accession |
| Familial colorectal cancer |
Benign; Conflicting classifications of pathogenicity |
rs73376930, rs111262341 |
RCV002072976 RCV002059079 |
| GREM1-related disorder |
Uncertain significance; Likely benign |
rs199894051, rs2548707906, rs367997246, rs372172128, rs1017180089, rs775753186, rs754459001, rs779454972, rs761180040 |
RCV004757537 RCV003943359 RCV003971255 RCV003971278 RCV003892200 RCV004757540 RCV003936726 RCV003901026 RCV003931872 |
| Hereditary cancer-predisposing syndrome |
Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity |
rs202104240, rs12915554, rs370674293, rs746525315, rs750874632, rs199894051, rs2548707812, rs2548707816, rs1054066828, rs745622778, rs371194430, rs2548707906, rs2548707934, rs752018538, rs768170664, rs968111910, rs769511007, rs1259486563, rs2548707484, rs2548707870, rs762152055, rs199522589, rs2548707978, rs2548707823, rs367676745, rs748915906, rs775520243, rs2548707890, rs1248318812, rs766891324, rs2548708006, rs759010741, rs2055607186, rs2548707820, rs34096580, rs1233026052, rs1195646708, rs1295527675, rs755636439, rs2548707962, rs773145682, rs2548707992, rs768700770, rs1217871499, rs770099270, rs774688129, rs148668967, rs2055602956, rs199760237, rs1446800680, rs2548708099, rs1162318366, rs942578260, rs368726521, rs771216139, rs2055611401, rs2548708009, rs2548708017, rs2548707387, rs367997246, rs756977802, rs2548708000, rs2548708048, rs2548708089, rs773255112, rs763336404, rs767985360, rs759636569, rs2055601512, rs768242805, rs927970468, rs945879966, rs2548707439, rs2548707416, rs553840621, rs2548707421, rs2548707297, rs1194984931, rs1284846391, rs1394593163, rs1454389131, rs372172128, rs545952537, rs759541309, rs111262341, rs2548707525, rs1345351965, rs779454972, rs770819924, rs774292923, rs2548707537, rs1230965844, rs2055604623, rs779317921, rs1312888226, rs2548707693, rs771903480, rs2548707719, rs1340557778, rs2548707671, rs2548707687, rs776296145, rs2548707661, rs2548707667, rs368472880, rs2055606053, rs762087325, rs2548707334, rs747649135, rs1280677560, rs2548707644, rs1017180089, rs2548707655, rs2548707657, rs1435968313, rs2548707658, rs749057876, rs770695786, rs775753186, rs12911221, rs2548707335, rs2548707747, rs1002880323, rs1216397987, rs2548707741, rs2548707774, rs2548707776, rs2548707764, rs794727286, rs768670395, rs146429140, rs183257520, rs869312795, rs2548707980, rs2055608831, rs2548708154, rs2548707413, rs2055602701, rs2548707752, rs2548707676, rs766836254, rs1278786063, rs1246279429, rs780146359, rs78005246, rs1200082572, rs763654384, rs1027553263, rs754459001, rs762932572, rs2548707956, rs1484617645, rs777005561, rs2548707353, rs1200762767, rs769422903, rs748146251, rs2548707760, rs2548707646, rs2548707546, rs2548708144, rs745880464, rs2055603266, rs2055601455, rs762082199, rs1412841342, rs1043315001, rs2548707541, rs1567112988, rs757593929, rs2548707584, rs2548707614, rs2548707641, rs2548707664, rs2548707699, rs997413825, rs2140690869, rs2548707852, rs2548707900, rs1468958267, rs777740546, rs2548707370, rs2548708011, rs2548708015, rs1400573237, rs2548708080, rs1458654619, rs2548708107, rs781399623, rs2548708137, rs2548708142, rs2548707444, rs2055602294, rs754206331, rs2280738, rs1595851879, rs1595852343 View all (182 more) |
RCV002329348 RCV005629662 RCV002319751 RCV002400406 RCV002409630 RCV005400534 RCV002324735 RCV002445591 RCV002452044 RCV002339744 RCV002353053 RCV002349180 RCV002366301 RCV002321457 RCV002323228 RCV002329957 RCV002322825 RCV002322957 RCV002321055 RCV002452617 RCV002348879 RCV002355602 RCV002359550 RCV002333622 RCV002326305 RCV002460207 RCV002337473 RCV002452426 RCV002355302 RCV002375488 RCV002357765 RCV002340144 RCV002326066 RCV002445611 RCV002324999 RCV002460274 RCV002373220 RCV002373266 RCV002373271 RCV002323473 RCV002323479 RCV002330011 RCV002330276 RCV002331869 RCV002328536 RCV002342632 RCV002342778 RCV002338391 RCV002349594 RCV002357941 RCV002368705 RCV002330426 RCV002340536 RCV002336025 RCV002336052 RCV002347007 RCV002347061 RCV002349411 RCV002349458 RCV002342123 RCV002342339 RCV002344884 RCV002353252 RCV002328667 RCV002339907 RCV002340093 RCV002335465 RCV002351330 RCV002351365 RCV002340850 RCV002341010 RCV002351754 RCV002351757 RCV002360164 RCV002378046 RCV002419165 RCV002449784 RCV002430202 RCV002378621 RCV002367162 RCV002367250 RCV002364732 RCV002378232 RCV002400568 RCV002373937 RCV002376647 RCV002398396 RCV002385878 RCV002389462 RCV002389467 RCV002397114 RCV002397119 RCV002389602 RCV002389662 RCV002407405 RCV002401075 RCV002394331 RCV002394573 RCV002398634 RCV002401653 RCV002401804 RCV002404009 RCV002414885 RCV002459562 RCV002431164 RCV002433031 RCV002437220 RCV002426468 RCV002428540 RCV002455543 RCV002455545 RCV002430791 RCV002448102 RCV002448262 RCV002460019 RCV002425996 RCV002428982 RCV002428992 RCV002424035 RCV002424194 RCV002425670 RCV002425711 RCV002425718 RCV002425723 RCV002446214 RCV002446283 RCV002446307 RCV002428502 RCV002450316 RCV002450391 RCV002455721 RCV002433141 RCV002453121 RCV002441535 RCV002439596 RCV002441852 RCV002437472 RCV002439351 RCV002443995 RCV002444307 RCV002442209 RCV002326960 RCV000209828 RCV000209201 RCV000209526 RCV000210087 RCV003176321 RCV003176322 RCV003165076 RCV003165077 RCV003176323 RCV003172474 RCV003172475 RCV003172476 RCV003172477 RCV003172478 RCV003172479 RCV003172480 RCV003172482 RCV003172483 RCV003209435 RCV003209446 RCV003209456 RCV003209467 RCV003209478 RCV002258868 RCV003300816 RCV003300817 RCV003300818 RCV003310360 RCV003310361 RCV003310362 RCV003310363 RCV002321962 RCV003278160 RCV003306696 RCV003306697 RCV003306698 RCV003306699 RCV003278161 RCV003341859 RCV003341860 RCV003341861 RCV003341862 RCV003341863 RCV003341864 RCV003341865 RCV003366376 RCV003387048 RCV003387049 RCV004634274 RCV004519483 RCV004519484 RCV004519485 RCV004519486 RCV004519487 RCV004519488 RCV004519489 RCV004519490 RCV004519492 RCV004519493 RCV004519494 RCV004519495 RCV004519496 RCV004519497 RCV004519498 RCV004519499 RCV004519500 RCV004519501 RCV004519502 RCV004519503 RCV004519504 RCV004519505 RCV004519506 RCV004519507 RCV004519508 RCV004519509 RCV004519510 RCV004519511 RCV004519512 RCV004519513 RCV004519514 RCV004519515 RCV004519516 RCV002402116 RCV005055014 RCV001021617 RCV001021284 |
| Hereditary mixed polyposis syndrome |
Uncertain significance |
rs370674293, rs750874632, rs199894051, rs754206331 |
RCV002254844 RCV002277715 RCV002292258 RCV000417252 |
| Polyposis syndrome, hereditary mixed, 1 |
Uncertain significance |
rs199894051, rs776296145 |
RCV005055190 RCV005055199 |
| Premature ovarian insufficiency |
Uncertain significance |
rs1567113298 |
RCV000766181 |
|
| Disease Name |
Relationship Type |
References |
| Acute Coronary Syndrome |
Stimulate |
27101443 |
| Adenocarcinoma of Lung |
Stimulate |
22870311 |
| Adenocarcinoma of Lung |
Associate |
32381040 |
| Adenoma |
Associate |
12117880, 23155391, 23748100 |
| Adenomatous Polyposis Coli |
Associate |
23805267, 32170005 |
| Albuminuria |
Associate |
19577778 |
| Alzheimer Disease |
Associate |
22870311 |
| Angina Stable |
Stimulate |
27101443 |
| Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis |
Associate |
31053735 |
| Attenuated familial adenomatous polyposis |
Associate |
26493165 |
| Atypical Squamous Cells of the Cervix |
Associate |
32096207 |
| Breast Neoplasms |
Associate |
27449045, 30236106, 32141512 |
| Cap Myopathy |
Associate |
29453410 |
| Carcinogenesis |
Associate |
22561515, 26392110 |
| Carcinoma Basal Cell |
Associate |
17003113, 28346486 |
| Carcinoma Hepatocellular |
Associate |
22839096, 23826422 |
| Carcinoma Intraductal Noninfiltrating |
Associate |
30236106 |
| Carcinoma Non Small Cell Lung |
Stimulate |
26392110 |
| Carcinoma Renal Cell |
Associate |
20042676, 20154727 |
| Carcinoma Squamous Cell |
Stimulate |
28346486 |
| Carcinoma Transitional Cell |
Associate |
34456216 |
| Cleft Lip |
Associate |
29489415 |
| Cleft Palate |
Associate |
29489415 |
| Cleft Soft Palate |
Associate |
29489415 |
| Colitis Ulcerative |
Stimulate |
33506258 |
| Colitis Ulcerative |
Associate |
38070204 |
| Colonic Neoplasms |
Associate |
32583331 |
| Colonic Polyps |
Associate |
25992589, 29804199 |
| Colorectal Neoplasms |
Associate |
12696020, 17923762, 20659471, 21655089, 22367214, 22505654, 23155391, 23659962, 24753543, 24812030, 25992589, 26208990, 26493165, 26947005, 29504907, 29804199, 32170005, 33476087, 33976257, 35812248, 35883579, 35893034, 36657129, 36800588, 37249599 View all (10 more) |
| Colorectal Neoplasms Hereditary Nonpolyposis |
Associate |
25992589, 29804199 |
| Diabetes Mellitus |
Associate |
19577778, 37365645 |
| Diabetes Mellitus |
Stimulate |
27101443 |
| Diabetes Mellitus Type 2 |
Stimulate |
27101443 |
| Diabetes Mellitus Type 2 |
Associate |
35893034 |
| Diabetic Foot |
Associate |
37365645 |
| Diabetic Nephropathies |
Associate |
20150533, 25378054, 26412030 |
| Diabetic Nephropathies |
Stimulate |
31053735 |
| Endometriosis |
Stimulate |
18314105 |
| Endometriosis |
Associate |
38115253 |
| Esophageal Neoplasms |
Associate |
29953975 |
| Esophageal Squamous Cell Carcinoma |
Stimulate |
29953975 |
| Fibroma Desmoplastic |
Stimulate |
24812030 |
| Fibrosis |
Associate |
22839096, 24949470, 31053735, 37240308 |
| Glaucoma |
Associate |
23748100 |
| Glioblastoma |
Associate |
23826422 |
| Glomerulonephritis |
Associate |
31053735 |
| Glucosephosphate Dehydrogenase Deficiency |
Associate |
28522681 |
| Heart Failure |
Associate |
32618141 |
| Hepatitis C Chronic |
Associate |
22839096 |
| Hereditary Breast and Ovarian Cancer Syndrome |
Associate |
16545136 |
| Hypospadias |
Associate |
33962391 |
| Hypoxia |
Stimulate |
20336693, 28522681 |
| Idiopathic Pulmonary Fibrosis |
Stimulate |
16816361 |
| Infertility |
Associate |
22160428 |
| Inflammation |
Associate |
31053735, 37365645, 38070204 |
| Inflammatory Bowel Diseases |
Associate |
33506258 |
| Intervertebral Disc Degeneration |
Associate |
37700277 |
| Intestinal Polyposis |
Associate |
23805267, 26947005 |
| Juvenile polyposis syndrome |
Associate |
22561515 |
| Kidney Diseases |
Associate |
20150533, 31053735 |
| Kidney Failure Chronic |
Associate |
22505654 |
| Kidney Failure Chronic |
Stimulate |
26412030 |
| Lead Poisoning Nervous System |
Associate |
27713170 |
| Loeys Dietz Syndrome |
Stimulate |
25116393 |
| Lung Diseases |
Associate |
28522681 |
| Lung Neoplasms |
Associate |
16234815, 34671675 |
| Lymphatic Metastasis |
Stimulate |
31882551 |
| Lymphoma B Cell |
Associate |
23826422 |
| Melanoma |
Stimulate |
28346486 |
| Mesothelioma Malignant |
Associate |
25757056 |
| Microsatellite Instability |
Associate |
26493165 |
| Myotonic Dystrophy |
Stimulate |
27101443 |
| Nasopharyngeal Carcinoma |
Associate |
37365917 |
| Negative rheumatoid factor polyarthritis |
Associate |
12696020 |
| Neoplasm Metastasis |
Associate |
35883579 |
| Neoplasms |
Associate |
12117880, 16234815, 16545136, 17003113, 20154727, 22514712, 22870311, 23155391, 23659962, 23800187, 23826422, 24299561, 26531827, 27931212, 28346486, 29396725, 30236106, 31882551, 32381040, 35874760, 37240308, 37605239, 39375386 View all (8 more) |
| Neoplasms |
Inhibit |
20042676 |
| Neuroblastoma |
Associate |
22160428, 27036124 |
| Obesity |
Associate |
34296200 |
| Orofacial Cleft 1 |
Associate |
38002937 |
| Osteoarthritis |
Stimulate |
27794162 |
| Osteoarthritis |
Associate |
37140355 |
| Osteoarthritis Knee |
Stimulate |
27794162 |
| Ovarian Diseases |
Inhibit |
22160428 |
| Pancreatic Neoplasms |
Associate |
30272371 |
| Pilomatrixoma |
Associate |
28346486 |
| Polyposis Syndrome Hereditary Mixed 1 |
Associate |
12696020, 18313025, 22561515, 23805267, 25992589, 29804199 |
| Prostatic Neoplasms |
Associate |
16234815 |
| Prostatitis |
Associate |
37240308 |
| Pulmonary Arterial Hypertension |
Associate |
28522681 |
| Renal Insufficiency Chronic |
Stimulate |
24949470 |
| Renal Insufficiency Chronic |
Associate |
31053735 |
| Rhabdomyosarcoma Alveolar |
Stimulate |
23733015 |
| Rhabdomyosarcoma Embryonal |
Associate |
23733015 |
| Sarcoma |
Stimulate |
26531827 |
| Simpson Golabi Behmel syndrome |
Associate |
22286531 |
| Skin Diseases |
Inhibit |
27713170 |
| Skin Neoplasms |
Stimulate |
28346486 |
| Squamous Cell Carcinoma of Head and Neck |
Associate |
18254958, 27931212 |
| Stomach Neoplasms |
Associate |
16367923, 29396725, 31882551 |
| Tachycardia Atrioventricular Nodal Reentry |
Associate |
29396725 |
| Triple Negative Breast Neoplasms |
Associate |
23700430 |
| Ulcer |
Associate |
37365645 |
| Urinary Bladder Neoplasms |
Associate |
37605239, 39375386 |
| Uterine Cervical Neoplasms |
Stimulate |
16545136 |
| Van der Woude syndrome |
Associate |
29489415 |
| Vesico Ureteral Reflux |
Associate |
22558067 |
| White Dot Syndromes |
Associate |
31700227 |
|