ALFRED: allele frequency database

The ALlele FREquency Database
ALFRED is a resource of gene frequency data on human populations
supported by the U. S. National Science Foundation.

ALFRED detailed record information

Locus Information

Name	ALFRED UID	Locus Symbol	Chromosome	Band Position
v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	LO000285P	KRAS	12	12p12.1

Synonyms: KRAS2 ; NS3 ; KRAS1 ; RASK2 ; KI-RAS ; C-K-RAS ; K-RAS2A ; K-RAS2B ; K-RAS4A ; K-RAS4B ;
Sites List: See Sites List
External Resources: Entrez Gene Locus Information OMIM description GenBank sequence GenBank sequence GenBank sequence PharmGKB Gene Information Genopedia (HuGE Navigator)
References: See References
Locus Description: KRAS2 encodes c-K-ras2 proteins, isoforms a and b, which are members of the GTPase superfamily and play a central role in cell growth signaling cascades. The human KRAS2 gene spans 35-40 kb and contains 6 exons. The two final coding exons (4A and 4B) arose through an intragenic duplication event (McGrath et al., 1983) [PubMed ID: 6308466]. Alternative RNA splicing produces two isomorphic proteins (a and b), which differ in 25 amino acid residues at the C-terminal region (Lowndes et al., 1989) [PubMed ID: 2674682]. Mutations in the KRAS2 locus are very common and frequent in cancer of the colon, pancreas (review by Bos, 1989) [PubMed ID: 2547513], endometrium (Enomoto et al., 1990) [PubMed ID: 2205377], ovary (Enomoto et al., 1991) [PubMed ID: 1656759], prostate (Konishi et al., 1992) [PubMed ID: 1562975], and lung (Mills et al., 1995) [PubMed ID: 7882350]. By in situ hybridization, Popescu et al. (1985) [PubMed ID: 3856955] mapped the KRAS2 gene to chromosome 12p12.1-p11.1. By linkage with RFLPs, O'Connell et al. (1985) confirmed the location of the KRAS2 locus on chromosome 12p12.1. Several restriction enzyme polymorphisms have been reported such as StuI, BstXI (Heighway, 1991) [PubMed ID: 2057380], and DdeI (Heighway, 1991) [PubMed ID: 1681498].
Sites within this locus ordered by their chromosomal position in the 37.3 NCBI build:

Site Name (Navigates to ALFRED description)	dbSNP rs# (Navigates to dbSNP reference page)	Chr-Position	# Populations typed
KRAS geneLI SNPs 3-site haplotype	rs12587	25250095	0
rs12587	rs12587	25358828	54
rs13096	rs13096	25359841	88
rs61764370	rs61764370	25360224	44
rs7973450	rs7973450	25361142	45
rs9266	rs9266	25362217	88
rs712	rs712	25362552	63
rs4246229	rs4246229	25367669	51
rs12579073	rs12579073	25375799	50
rs10842513	rs10842513	25384658	51
rs11047912	rs11047912	25385910	50
rs17388587	rs17388587	25389220	50
rs6487464	rs6487464	25391456	50
rs10842514	rs10842514	25392282	51
rs10842515	rs10842515	25393523	50
rs17388893	rs17388893	25393865	50
rs12813551	rs12813551	25394779	50
rs2970532	rs2970532	25396035	51
rs17389103	rs17389103	25397282	50
rs17329975	rs17329975	25398972	50
rs11047919	rs11047919	25399121	50
rs4368021	rs4368021	25401822	50
rs11047921	rs11047921	25408047	50
rs12320328	rs12320328	25408464	50

References:
- Bos JL. "ras oncogenes in human cancer: a review". Cancer Res. 49:4682-9. (1989) Online citation.

- Enomoto T, Inoue M, Perantoni AO, Terakawa N, Tanizawa O, Rice JM. "K-ras activation in neoplasms of the human female reproductive tract". Cancer Res. 50:6139-45. (1990) Online citation.

- Enomoto T, Weghorst CM, Inoue M, Tanizawa O, Rice JM. "K-ras activation occurs frequently in mucinous adenocarcinomas and rarely in other common epithelial tumors of the human ovary". Am. J. Pathol. 139:777-85. (1991) Online citation.

- Heighway J. "DdeI polymorphism within sequence encoding 3' untranslated region of c-Ki-ras2 (KRAS2)". Nucleic Acids Res. 19:5092. (1991) Online citation.

- Heighway J. "Primers for detection of StuI and BstXI polymorphisms in a fragment co-amplified with c-Ki-ras 2 (KRAS2)". Nucleic Acids Res. 19:3162. (1991) Online citation.

- Jorde LB, Bamshad MJ, Watkins WS, Zenger R, Fraley AE, Krakowiak PA, Carpenter KD, Soodyall H, Jenkins T, Rogers AR. "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data.". Am. J. Hum. Genet. 57:523-538. (1995) Online citation.

- Konishi N, Enomoto T, Buzard G, Ohshima M, Ward JM, Rice JM. "K-ras activation and ras p21 expression in latent prostatic carcinoma in Japanese men". Cancer 69:2293-9. (1992) Online citation.

- Lowndes NF, Paul J, Wu J, Allan M. "c-Ha-ras gene bidirectional promoter expressed in vitro: location and regulation". Mol. Cell Biol. 9:3758-70. (1989) Online citation.

- McGrath JP, Capon DJ, Smith DH, Chen EY, Seeburg PH, Goeddel DV, Levinson AD. "Structure and organization of the human Ki-ras proto-oncogene and a related processed pseudogene". Nature 304:501-6. (1983) Online citation.

- Mills NE, Fishman CL, Rom WN, Dubin N, Jacobson DR. "Increased prevalence of K-ras oncogene mutations in lung adenocarcinoma". Cancer Res. 55:1444-7. (1995) Online citation.

- O'Connell P, Leppert M, Hoff M, Kumlin E, Thomas W, Cai G, Law M, White R. "A linkage map for human chromosome 12". Am. J. Hum. Genet. (Abstract) 37:A169. (1985)

- Popescu NC, Amsbaugh SC, DiPaolo JA, Tronick SR, Aaronson SA, Swan DC. "Chromosomal localization of three human ras genes by in situ molecular hybridization". Somat. Cell Mol. Genet. 11:149-55. (1985) Online citation.

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© 2012 Kenneth K Kidd, Yale University. All rights reserved. The full Copyright Notification is also available.
Originally prototyped by Michael Osier with the aid of Kei Cheung
Upgrades and maintenance since 2002 by Haseena Rajeevan