Results for cd04145

Domain Name: M_R_Ras_like

R-Ras2/TC21, M-Ras/R-Ras3. The M-Ras/R-Ras-like subfamily contains R-Ras2/TC21, M-Ras/R-Ras3, and related members of the Ras family. M-Ras is expressed in lympho-hematopoetic cells. It interacts with some of the known Ras effectors, but appears to also have its own effectors. Expression of mutated M-Ras leads to transformation of several types of cell lines, including hematopoietic cells, mammary epithelial cells, and fibroblasts. Overexpression of M-Ras is observed in carcinomas from breast, uterus, thyroid, stomach, colon, kidney, lung, and rectum. In addition, expression of a constitutively active M-Ras mutant in murine bone marrow induces a malignant mast cell leukemia that is distinct from the monocytic leukemia induced by H-Ras. TC21, along with H-Ras, has been shown to regulate the branching morphogenesis of ureteric bud cell branching in mice. Most Ras proteins contain a lipid modification site at the C-terminus, with a typical sequence motif CaaX, where a = an aliphatic amino acid and X = any amino acid. Lipid binding is essential for membrane attachment, a key feature of most Ras proteins. Due to the presence of truncated sequences in this CD, the lipid modification site is not available for annotation.

No pairwise interactions are available for this conserved domain.

Total Mutations Found: 122
Total Disease Mutations Found: 70
This domain occurred 112 times on human genes (202 proteins).

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AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV

BLADDER CANCER, SOMATIC

BLADDER CANCER, SOMATIC, INCLUDED

BLADDER CANCER, TRANSITIONAL CELL, SOMATIC

BREAST ADENOCARCINOMA, SOMATIC

CARDIOFACIOCUTANEOUS SYNDROME 2

CARDIOFACIOCUTANEOUS SYNDROME 2 (CFC2)

CHARCOT-MARIE-TOOTH DISEASE 2B (CMT2B)

CONE-ROD DYSTROPHY 18

COSTELLO SYNDROME

COSTELLO SYNDROME, INCLUDED;;

COSTELLO SYNDROME, SEVERE

EPIDERMAL NEVUS WITH UROTHELIAL CAN

EPIDERMAL NEVUS, SOMATIC

EPIDERMAL NEVUS, SOMATIC, INCLUDED

EPIDERMAL NEVUS, SOMATIC, INCLUDED;;

FACIOCUTANEOSKELETAL SYNDROME (FCSS)

GASTRIC CANCER, SOMATIC

GASTRIC CANCER, SOMATIC, INCLUDED;;

GRISCELLI SYNDROME, TYPE 2

JUVENILE MYELOMONOCYTIC LEUKEMIA, INCLUDED;;

LUNG CANCER, SOMATIC

LUNG CANCER, SQUAMOUS CELL, SOMATIC

MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES

MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES, INCLUDED;;

NEUTROPHIL IMMUNODEFICIENCY SYNDROME

NEVUS SEBACEOU

NEVUS SEBACEOUS, SOMATIC

NEVUS SEBACEOUS, SOMATIC, INCLUDED

NEVUS SEBACEOUS, SOMATIC, INCLUDED;;

NOONAN SYNDROME 3

NOONAN SYNDROME 6

NOONAN SYNDROME 6, INCLU

NOONAN SYNDROME 8

OVARIAN CANCER, SOMATIC

PANCREATIC CARCINOMA, SOMATIC

PILOCYTIC ASTROCYTOMA, SOMATIC

RECTAL CANCER, SOMATIC

SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, INCLUDED;;

SPERMATOCYTIC SEMINOMA, SOMATIC, INCLUDED

THYROID CARCINOMA, FOLLICULAR, SOMATIC

WARBURG MICRO SYNDROME 3

CDD (NCBI), PDB