RET - ret proto-oncogene Gene
Also Known as PTC; MTC1; HSCR1; MEN2A; MEN2B; CDHF12; CDHR16; RET-ELE1
Species: Homo sapiens
About RET
This gene has 12 transcripts (splice variants), 205 orthologues, 53 paralogues and is associated with 153 phenotypes. Biased expression in adrenal (RPKM 10.2), prostate (RPKM 1.3) and 9 other tissues.
Summary
This gene encodes a transmembrane receptor and member of the tyrosine protein kinase family of proteins. Binding of ligands such as GDNF (glial cell-line derived neurotrophic factor) and Other related proteins to the encoded receptor stimulates receptor dimerization and activation of downstream signaling pathways that play a role in cell differentiation, growth, migration and survival. The encoded receptor is important in development of the nervous system, and the development of organs and tissues derived from the neural crest. This proto-oncogene can undergo oncogenic activation through both cytogenetic rearrangement and activating point mutations. Mutations in this gene are associated with Hirschsprung disease and central hypoventilation syndrome and have been identified in patients with renal agenesis. [provided by RefSeq, Sep 2017]
RET Products (41)
| mRNA | Protein | Name |
|---|---|---|
| NM_001406779.1 | NP_001393708.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform v precursor |
| NM_001406791.1 | NP_001393720.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform gg precursor |
| NM_001406790.1 | NP_001393719.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform ff precursor |
| NM_001406789.1 | NP_001393718.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform ee precursor |
| NM_001406792.1 | NP_001393721.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform hh precursor |
| NM_001406784.1 | NP_001393713.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform z precursor |
| NM_001406770.1 | NP_001393699.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform m precursor |
| NM_020630.7 | NP_065681.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform c precursor |
| NM_001406780.1 | NP_001393709.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform v precursor |
| NM_001406774.1 | NP_001393703.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform q precursor |
| NM_001406775.1 | NP_001393704.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform r precursor |
| NM_001406772.1 | NP_001393701.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform o precursor |
| NM_001406743.1 | NP_001393672.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor |
| NM_001406786.1 | NP_001393715.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform bb precursor |
| NM_001406764.1 | NP_001393693.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform h precursor |
| NM_001406760.1 | NP_001393689.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform e precursor |
| NM_001406793.1 | NP_001393722.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform ii precursor |
| NM_001406787.1 | NP_001393716.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform cc precursor |
| NM_001406782.1 | NP_001393711.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform x precursor |
| NM_020975.6 | NP_066124.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform a precursor |
| NM_001406771.1 | NP_001393700.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform n precursor |
| NM_001406778.1 | NP_001393707.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform u precursor |
| NM_001406777.1 | NP_001393706.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform t precursor |
| NM_001406761.1 | NP_001393690.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform f precursor |
| NM_001406794.1 | NP_001393723.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform jj precursor |
| NM_001406767.1 | NP_001393696.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform j precursor |
| NM_001406744.1 | NP_001393673.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform b precursor |
| NM_001406762.1 | NP_001393691.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform f precursor |
| NM_001406765.1 | NP_001393694.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform i precursor |
| NM_001406783.1 | NP_001393712.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform y precursor |
| NM_001406776.1 | NP_001393705.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform s precursor |
| NM_001406781.1 | NP_001393710.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform w precursor |
| NM_001406769.1 | NP_001393698.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform l precursor |
| NM_001406768.1 | NP_001393697.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform k precursor |
| NM_001406759.1 | NP_001393688.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform e precursor |
| NM_001406788.1 | NP_001393717.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform dd precursor |
| NM_001406763.1 | NP_001393692.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform g precursor |
| NM_001406785.1 | NP_001393714.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform aa precursor |
| NM_001406773.1 | NP_001393702.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform p precursor |
| NM_001355216.2 | NP_001342145.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform d |
| NM_001406766.1 | NP_001393695.1 | proto-oncogene tyrosine-protein kinase receptor Ret isoform j precursor |
| Molecular Function GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| enables calcium ion binding |
IDA
IDA: Inferred from direct assay
|
9575150 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
10545102 | GOA |
| enables transmembrane receptor protein tyrosine kinase activity |
IDA
IDA: Inferred from direct assay
|
24560924 | GOA |
| Cellular Component GO Annotation | Evidence | Références | Source |
|---|---|---|---|
| located in endosome membrane |
IDA
IDA: Inferred from direct assay
|
19823924 | GOA |
| is active in plasma membrane |
IDA
IDA: Inferred from direct assay
|
9575150 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
19823924 | GOA |
| part of plasma membrane protein complex |
IDA
IDA: Inferred from direct assay
|
10545102 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
23382219 | GOA |
RET Protein Structure
Cadherin: Cadherin domain (173 - 256)
Pkinase_Tyr: Protein tyrosine kinase (724 - 1005)
- 0
- 200
- 400
- 600
- 800
- 1000
- 1114 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
proto-oncogene tyrosine-protein kinase receptor Ret |
|
|
RET Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | Références |
|---|---|---|---|---|---|---|---|
|
Intra
|
RET | P07949 | TLN1 | Homo sapiens | Q9Y490 | 35044719 | |
|
Intra
|
RET | P07949 | ALK | Homo sapiens | Q9UM73 | 35384245 | |
|
Intra
|
RET | P07949 | ALK | Homo sapiens | Q9UM73 | 35384245 | |
|
Intra
|
RET | P07949 | STAT3 | Homo sapiens | P40763 | 25241761 | |
|
Intra
|
RET | P07949 | STAT3 | Homo sapiens | P40763 | 11536047 | |
|
Intra
|
RET | P07949 | FGFR4 | Homo sapiens | P22455 | 35384245 | |
|
Intra
|
RET | P07949 | FGFR4 | Homo sapiens | P22455 | 35384245 | |
|
Intra
|
RET | P07949 | NOTCH2NLA | Homo sapiens | Q7Z3S9 | 25416956 | |
|
Intra
|
RET | P07949 | NOTCH2NLA | Homo sapiens | Q7Z3S9 | 25416956 | |
|
Cross
|
RET | P07949 | Sh2b1 | Rattus norvegicus | Q62985 | 17471236 | |
|
Cross
|
RET | P07949 | Sh2b1 | Rattus norvegicus | Q62985 | 17471236 | |
|
Cross
|
RET | P07949 | Sh2b1 | Rattus norvegicus | Q62985 | 16569669 |
Recombinant RET Proteins
| Cat. No. | Nom du produit | Accession | Pureté |
|---|---|---|---|
| HY-P73678 | RET Protein, Human (Active, sf9, His-GST) | P07949-1 (H658-S1114) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P73679 | RET Protein, Human (HEK293, His) | P07949-1 (L29-R635) | ≥ 90%, as determined by reducing SDS-PAGE. |
RET Anticorps
| Cat. No. | Nom du produit | Application | Reactivity |
|---|---|---|---|
| HY-P80307 | Ret Antibody (YA097) | WB, ICC/IF, IHC-P, IP, FC | Human, Mouse |
| HY-P85351 | Ret Antibody (YA5043) | WB; IHC-P; IHC-F; ICC/IF; IF-Tissue; IP; FC | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Meningioma, Familial |
|
|
| Sudden Infant Death Syndrome |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Microcephaly |
|
|
| Thyroid Sarcoma |
|
|
| Gingival Overgrowth |
|
|
| Peripheral Nervous System Disease |
|
|
| Paraganglioma |
|
|
| Persistent Generalized Lymphadenopathy |
|
|
| Central Nervous System Hemangioma |
|
|
| Rasopathy |
|
|
| Congenital Central Hypoventilation Syndrome |
|
|
| Thyroid Gland Follicular Carcinoma |
|
|
| Intestinal Obstruction |
|
|
| Cowden Syndrome 1 |
|
|
| Pancreatic Cancer |
|
|
| Thyroid Carcinoma |
|
|
| Parathyroid Gland Disease |
|
|
| Adrenal Carcinoma |
|
|
| Thyroid Tumor |
|
|
| Ovarian Germ Cell Teratoma |
|
|
| Papillary Carcinoma |
|
|
| Lung Sarcomatoid Carcinoma |
|
|
| Motor Neuron Disease |
|
|
| Substernal Goiter |
|
|
| Atypical Follicular Adenoma |
|
|
| Multicentric Papillary Thyroid Carcinoma |
|
|
| Follicular Adenoma |
|
|
| Hashimoto Thyroiditis |
|
|
| Cerebral Angioma |
|
|
| American Histoplasmosis |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Familial Hypocalciuric Hypercalcemia |
|
|
| Hyperparathyroidism 2 With Jaw Tumors |
|
|
| Multiple Endocrine Neoplasia, Type Iib |
|
|
| Neuroendocrine Tumor |
|
|
| Hypertelorism |
|
|
| Retinitis Pigmentosa |
|
|
| Hereditary Breast Ovarian Cancer Syndrome |
|
|
| Cakut |
|
|
| Retinal Degeneration |
|
|
| Sublingual Gland Cancer |
|
|
| Adenocarcinoma |
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Parathyroid Carcinoma |
|
|
| Thyroid Gland Anaplastic Carcinoma |
|
|
| Thyroid Gland Disease |
|
|
| Renal Agenesis, Bilateral |
|
|
| Thyroid Gland Medullary Carcinoma |
|
|
| Achalasia |
|
|
| Islet Cell Tumor |
|
|
| Multinodular Goiter |
|
|
| Ovarian Germ Cell Cancer |
|
|
| Extra-Adrenal Pheochromocytoma |
|
|
| Testicular Spermatocytic Seminoma |
|
|
| Benign Struma Ovarii |
|
|
| Laurence-Moon Syndrome |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Neuronal Intestinal Dysplasia, Type B |
|
|
| Tall Cell Variant Papillary Carcinoma |
|
|
| Neuroblastoma |
|
|
| Goldberg-Shprintzen Syndrome |
|
|
| Laryngeal Neuroendocrine Tumor |
|
|
| Hypertension, Essential |
|
|
| Thyroid Carcinoma, Familial Medullary |
|
|
| Pituitary Adenoma |
|
|
| Childhood Fibrosarcoma |
|
|
| Skin Lipoma |
|
|
| Mowat-Wilson Syndrome |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Primary Hyperparathyroidism |
|
|
| Waardenburg'S Syndrome |
|
|
| Thyroid Lymphoma |
|
|
| Rhabdomyosarcoma |
|
|
| Central Hypoventilation Syndrome, Congenital, 1 |
|
|
| Thyroid Dyshormonogenesis 2a |
|
|
| Spitzoid Melanoma |
|
|
| Hemangioma |
|
|
| Renal Hypodysplasia/Aplasia 3 |
|
|
| Neuroma |
|
|
| Tetralogy Of Fallot |
|
|
| Pheochromocytoma |
|
|
| Medullary Sponge Kidney |
|
|
| Thyroiditis |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Rare Tumor |
|
|
| Hirschsprung Disease 1 |
|
|
| Multiple Endocrine Neoplasia, Type Iv |
|
|
| Trichothiodystrophy 4, Nonphotosensitive |
|
|
| Endocrine Gland Cancer |
|
|
| Hyperparathyroidism |
|
|
| Ganglioneuroma |
|
|
| Neurofibromatosis |
|
|
| Nonencapsulated Sclerosing Carcinoma |
|
|
| Struma Ovarii |
|
|
| Sensorineural Hearing Loss |
|
|
| Colorectal Cancer |
|
|
| Goiter |
|
|
| Carney Complex Variant |
|
|
| Conn'S Syndrome |
|
|
| Lymph Node Disease |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Adrenal Medulla Cancer |
|
|
| Primary Cutaneous Amyloidosis |
|
|
| Hypoparathyroidism |
|
|
| Vesicoureteral Reflux |
|
|
| Congenital Mesoblastic Nephroma |
|
|
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
|
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1a |
|
|
| Inflammatory Myofibroblastic Tumor |
|
|
| Thyroid Gland Cancer |
|
|
| Congenital Fibrosarcoma |
|
|
| Megacolon |
|
|
| Nonsyndromic Paraganglioma |
|
|
| Lung Cancer |
|
|
| Breast Cancer |
|
|
| Malignant Pheochromocytoma |
|
|
| Lynch Syndrome |
|
|
| Multiple Mucosal Neuroma |
|
|
| Differentiated Thyroid Carcinoma |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Intestinal Pseudo-Obstruction |
|
|
| Lung Non-Squamous Non-Small Cell Carcinoma |
|
|
| Constipation |
|
|
| Salivary Gland Mucinous Adenocarcinoma |
|
|
| Amyloidosis |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Waardenburg Syndrome, Type 4a |
|
|
| Tumor Predisposition Syndrome |
|
|
| Hypermobile Ehlers-Danlos Syndrome |
|
|
| Hypothyroidism |
|
|
| Parathyroid Adenoma |
|
|
| Neurofibromatosis, Type I |
|
|
| Main Bronchus Cancer |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Pyloric Stenosis |
|
|
| Renal Hypodysplasia/Aplasia 1 |
|
|
| Cowden Syndrome |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Malignant Struma Ovarii |
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
|
| Autosomal Genetic Disease |
|
|
| Nodular Goiter |
|
|
| Adenoma |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Macaca mulatta | RET | VGNC | VGNC:76899 |
| Canis familiaris | RET | VGNC | VGNC:45481 |
| Bos taurus | RET | VGNC | VGNC:33876 |
| Felis catus | RET | VGNC | VGNC:69292 |
| Rattus norvegicus | RET | RGD | RGD:3556 |
| Mus musculus | RET | MGD | MGI:97902 |
| Others | RET | NCBI |