KRAS - GTPase KRas - human protein (Medical)
 
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KRAS »  GTPase KRas
 
Protein also known as:  c-Ki-ras. Cleaved into:  GTPase KRas, N-terminally processed.
Gene name:  KRAS
Family name: Small GTPase » Ras
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: 2A     

 
 

Medical

 show evidences
Disease 
Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors.  
1
  • CuratedUniProtKB
KRAS mutations are involved in cancer development.  
  • CuratedUniProtKB
Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. The disease is caused by mutations affecting the gene represented in this entry.  
1
  • CuratedUniProtKB
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. The disease is caused by mutations affecting the gene represented in this entry.  
6
  • CuratedUniProtKB
Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. The disease is caused by mutations affecting the gene represented in this entry.  
3
  • CuratedUniProtKB
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. The disease is caused by mutations affecting the gene represented in this entry.  
5
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Cardiofaciocutaneous syndrome  1340  
Costello syndrome  3071  
Familial pancreatic carcinoma  1333  
Hereditary nonpolyposis colon cancer  144  
Juvenile myelomonocytic leukemia  86834  
Linear nevus sebaceus syndrome  2612  
Noonan syndrome  648  
Pilocytic astrocytoma  251612  
Selection of therapeutic option in colorectal cancer  357194  
Selection of therapeutic option in non-small cell lung carcinoma  357191  
 

Keywords

Disease 
Cardiomyopathy  definition   [KW-0122]
Deafness  definition   [KW-0209]
Disease mutation  definition   [KW-0225]
Ectodermal dysplasia  definition   [KW-0038]
Mental retardation  definition   [KW-0991]
Proto-oncogene  definition   [KW-0656]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 3845
GeneReviews: KRAS
MIM: 607785
MIM: 601626
MIM: 613659
MIM: 615278
MIM: 609942
PharmGKB: PA30196
Polymorphism databases
DMDM: 131875
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.