KRAS (Kirsten rat sarcoma 2 viral oncogene homolog)
1999-02-01 Franz Watzinger , Thomas Lion AffiliationChildrens Cancer Research Institute (CCRI), Kinderspitalgasse 6, A-1090 Vienna, Austria
Identity
HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
C-K-RAS,C-K-RAS,CFC2,K-RAS2A,K-RAS2B,K-RAS4A,K-RAS4B,K-Ras,K-Ras
FUSION GENES
DNA/RNA
K-ras splicing variants
alternative splicing of K-ras precursor mRNA leads to the two transcripts which differ by the ex- or inclusion of Exon 4a; Exons that encode protein are shown as black boxes, untranslated exons as white boxes; the upstream untranslated exon is indicated as Exon -1
Description
consists of six exons, spread over 35kb of genomic DNA.
Transcription
alternative RNA splicing reveals two different transcripts of 5.5 and 3.8kb (see Fig); if Exon 4a is skipped exon 4b is directly joined to exon 3; in 98% of the transcripts exon 4a is spliced out and only exon 4b is available for translation into protein.
Pseudogene
c-Ki-ras 1, inactivated, processed pseudogene which is located on Chromosome 6
Proteins
Description
regular RAS protein - characterized in the RAS family page.
Expression
ubiquitously expressed
Localisation
anchored to the inner surface of the plasma membrane
Function
analogously to other GTP-binding proteins (such as Translation Elongation Factor EFTu or signal transducing G-Proteins) RAS proteins are involved in signal transduction pathways
Homology
ras gene family is part of the ras superfamily including the mammalian RAS, RAL, RAC, RHO, RAP, and RAB gene families and the yeast homologs like SEC4 and YPT1 genes; genes encode small monomeric proteins of low molecular mass (20-30 kDa) which share at least 30% homology to RAS proteins.
Implicated in
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tumor (frequency of K-RAS mutations); references in Full Bibliography
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pancreas (80-90%)
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colon and rectum (25-60%)
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lung (25-60%)
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prostate (0-25%)
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skin (0-25%)
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thyroid (0-60%)
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liver (10-25%)
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ovary (0-50%)
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endometrium (10-40%)
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kidney (0-50%)
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brain (0-15%)
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testis (seminoma) (10-45%)
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acute non lymphocytic leukemia and myelodysplasia (5-15%)
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urinary bladder (5%)
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head and neck (10%)
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breast (10%)
Article Bibliography
Other Information
Locus ID:
NCBI: 3845
MIM: 190070
HGNC: 6407
Ensembl: ENSG00000133703
Variants:
dbSNP: 3845
ClinVar: 3845
TCGA: ENSG00000133703
COSMIC: KRAS
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
References
Citation
Franz Watzinger ; Thomas Lion
KRAS (Kirsten rat sarcoma 2 viral oncogene homolog)
Atlas Genet Cytogenet Oncol Haematol. 1999-02-01
Online version: http://atlasgeneticsoncology.org/gene/91/kras-(kirsten-rat-sarcoma-2-viral-oncogene-homolog)
