Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant c, mRNA.
| RefSeq Version | NM_005158.4, 269847767 |
| Length | 11957 bp |
| Structure | linear |
| Update Date | 24-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant c, mRNA. |
| Product | tyrosine-protein kinase ABL2 isoform c |
| Comment | Summary: This gene encodes a member of the Abelson family of nonreceptor tyrosine protein kinases. The protein is highly similar to the c-abl oncogene 1 protein, including the tyrosine kinase, SH2 and SH3 domains, and it plays a role in cytoskeletal rearrangements through its C-terminal F-actin- and microtubule-binding sequences. This gene is expressed in both normal and tumor cells, and is involved in translocation with the ets variant 6 gene in leukemia. Multiple alternatively spliced transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq]. Transcript Variant: This variant (c) differs in the 5' UTR and 5' coding region, compared to variant b, resulting in an isoform (c, also known as 1ALCTL) with a distinct and shorter N-terminus, compared to isoform b. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. |
| RefSeq | NP_005149.4 |
| CDS | 46..3549 | Exon (1) | 1..157 | Exon (2) | 1..157 | Exon (3) | 158..220 | Exon (4) | 221..391 | Exon (5) | 392..687 | Exon (6) | 688..960 | Exon (7) | 961..1045 | Exon (8) | 1046..1223 | Exon (9) | 1224..1408 | Exon (10) | 1409..1561 | Exon (11) | 1562..1651 | Exon (12) | 1652..1825 | Exon (13) | 1826..11940 |
| Translation | MVLGTVLLPPNSYGRDQDTSLCCLCTEASESALPDLTDHFASCVEDGFEGDKTGGSSPEA
LHRPYGCDVEPQALNEAIRWSSKENLLGATESDPNLFVALYDFVASGDNTLSITKGEKLR
VLGYNQNGEWSEVRSKNGQGWVPSNYITPVNSLEKHSWYHGPVSRSAAEYLLSSLINGSF
LVRESESSPGQLSISLRYEGRVYHYRINTTADGKVYVTAESRFSTLAELVHHHSTVADGL
VTTLHYPAPKCNKPTVYGVSPIHDKWEMERTDITMKHKLGGGQYGEVYVGVWKKYSLTVA
VKTLKEDTMEVEEFLKEAAVMKEIKHPNLVQLLGVCTLEPPFYIVTEYMPYGNLLDYLRE
CNREEVTAVVLLYMATQISSAMEYLEKKNFIHRDLAARNCLVGENHVVKVADFGLSRLMT
GDTYTAHAGAKFPIKWTAPESLAYNTFSIKSDVWAFGVLLWEIATYGMSPYPGIDLSQVY
DLLEKGYRMEQPEGCPPKVYELMRACWKWSPADRPSFAETHQAFETMFHDSSISEEVAEE
LGRAASSSSVVPYLPRLPILPSKTRTLKKQVENKENIEGAQDATENSASSLAPGFIRGAQ
ASSGSPALPRKQRDKSPSSLLEDAKETCFTRDRKGGFFSSFMKKRNAPTPPKRSSSFREM
ENQPHKKYELTGNFSSVASLQHADGFSFTPAQQEANLVPPKCYGGSFAQRNLCNDDGGGG
GGSGTAGGGWSGITGFFTPRLIKKTLGLRAGKPTASDDTSKPFPRSNSTSSMSSGLPEQD
RMAMTLPRNCQRSKLQLERTVSTSSQPEENVDRANDMLPKKSEESAAPSRERPKAKLLPR
GATALPLRTPSGDLAITEKDPPGVGVAGVAAAPKGKEKNGGARLGMAGVPEDGEQPGWPS
PAKAAPVLPTTHNHKVPVLISPTLKHTPADVQLIGTDSQGNKFKLLSEHQVTSSGDKDRP
RRVKPKCAPPPPPVMRLLQHPSICSDPTEEPTALTAGQSTSETQEGGKKAALGAVPISGK
AGRPVMPPPQVPLPTSSISPAKMANGTAGTKVALRKTKQAAEKISADKISKEALLECADL
LSSALTEPVPNSQLVDTGHQLLDYCSGYVDCIPQTRNKFAFREAVSKLELSLQELQVSSA
AAGVPGTNPVLNNLLSCVQEISDVVQR
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| Position | Chain | Variation | Link |
| complement(80) | - | g, c | dbSNP:1318056 |
| complement(233) | - | t, c | dbSNP:55655202 |
| complement(464) | - | c, a | dbSNP:61821670 |
| complement(505..506) | - | , t | dbSNP:35945588 |
| complement(650) | - | g, a | dbSNP:112007604 |
| 651 | + | a, g | dbSNP:28914528 |
| complement(909) | - | g, a | dbSNP:56032037 |
| 939 | + | a, g | dbSNP:28914532 |
| 955 | + | c, t | dbSNP:28914533 |
| 1494 | + | a, c | dbSNP:2274230 |
| 2058 | + | g, t | dbSNP:28913887 |
| complement(2153..2154) | - | , c | dbSNP:67764190 |
| 2190 | + | c, t | dbSNP:28913888 |
| complement(2236) | - | c, a | dbSNP:78418476 |
| complement(2350) | - | t, a | dbSNP:55892721 |
| complement(2625) | - | g, a | dbSNP:61731092 |
| complement(2649) | - | t, c | dbSNP:77598575 |
| complement(2666) | - | , t | dbSNP:34839060 |
| complement(2789) | - | t, c | dbSNP:17277288 |
| 2836 | + | a, g | dbSNP:28913889 |
| complement(2844) | - | g, a | dbSNP:35124879 |
| 2987 | + | c, g | dbSNP:28913890 |
| complement(3168) | - | t, g | dbSNP:74835127 |
| 3254 | + | a, g | dbSNP:28913891 |
| 3301 | + | a, g | dbSNP:28913892 |
| 3581 | + | c, t | dbSNP:28913893 |
| 3722 | + | a, g | dbSNP:2298067 |
| 3730 | + | c, t | dbSNP:28913894 |
| complement(3814) | - | t, c | dbSNP:12129574 |
| 4152 | + | c, t | dbSNP:2298068 |
| 4238 | + | a, g | dbSNP:28913895 |
| 4577 | + | c, t | dbSNP:28913896 |
| complement(4580) | - | , c | dbSNP:34688224 |
| complement(4632) | - | g, a | dbSNP:74737297 |
| 4647 | + | c, t | dbSNP:1490311 |
| complement(4683) | - | t, a | dbSNP:77298709 |
| complement(4728..4729) | - | , g | dbSNP:66639438 |
| 4778 | + | c, g | dbSNP:28913897 |
| 4874 | + | a, g | dbSNP:28913898 |
| complement(5088) | - | g, a | dbSNP:112121554 |
| 5290 | + | a, g | dbSNP:28913899 |
| 5317 | + | a, g | dbSNP:28913900 |
| complement(5533) | - | t, g | dbSNP:10913692 |
| complement(5606) | - | t, c | dbSNP:12072619 |
| complement(5631) | - | t, c | dbSNP:9729162 |
| complement(5803) | - | c, a | dbSNP:117228532 |
| complement(5805) | - | t, c | dbSNP:114423722 |
| complement(6066) | - | c, a | dbSNP:116742058 |
| complement(6142) | - | t, c | dbSNP:74131925 |
| complement(6473) | - | g, a | dbSNP:112527833 |
| complement(6603) | - | t, c | dbSNP:12759699 |
| complement(7036) | - | t, a | dbSNP:116048422 |
| complement(7170) | - | t, g | dbSNP:60121043 |
| complement(7206) | - | t, c | dbSNP:12569049 |
| complement(7327) | - | t, c | dbSNP:16853672 |
| complement(7363) | - | g, c | dbSNP:4651014 |
| complement(7436) | - | t, c | dbSNP:4651013 |
| complement(7674) | - | t, c | dbSNP:3829794 |
| complement(7778) | - | g, a | dbSNP:75390485 |
| complement(8107) | - | t, c | dbSNP:78206228 |
| complement(8188) | - | t, g | dbSNP:116676084 |
| 8484 | + | a, c | dbSNP:1325194 |
| complement(8537) | - | g, a | dbSNP:4651012 |
| complement(8610) | - | g, c | dbSNP:115727481 |
| 8646 | + | c, t | dbSNP:1325195 |
| complement(8672) | - | g, a | dbSNP:117848741 |
| complement(9075..9076) | - | , tt | dbSNP:71845680 |
| complement(9081..9082) | - | , gt | dbSNP:71796222 |
| 9236..9242 | + | , aaaaaaa | dbSNP:71108092 |
| complement(9245) | - | , ttttttt | dbSNP:71990363 |
| complement(9247) | - | , ttttttt | dbSNP:71912740 |
| complement(9274) | - | t, a | dbSNP:74571115 |
| complement(9276) | - | t, a | dbSNP:80017955 |
| complement(9365) | - | g, a | dbSNP:17361990 |
| complement(9465) | - | g, c | dbSNP:76656490 |
| complement(9487) | - | g, c | dbSNP:34112331 |
| 9875..9876 | + | , a | dbSNP:71108091 |
| complement(9875) | - | t, c | dbSNP:75775923 |
| complement(9877) | - | t, c | dbSNP:75924826 |
| complement(9883..9884) | - | , t | dbSNP:72025934 |
| complement(9888..9889) | - | , t | dbSNP:72205435 |
| complement(9888) | - | t, c | dbSNP:77578072 |
| complement(9889..9890) | - | , t | dbSNP:111283961 |
| complement(9890) | - | t, c | dbSNP:78951029 |
| complement(9891) | - | t, c | dbSNP:61821666 |
| complement(9896) | - | g, a | dbSNP:78610294 |
| complement(9953) | - | t, g | dbSNP:118129417 |
| complement(10065) | - | c, a | dbSNP:78544564 |
| complement(10068) | - | g, c | dbSNP:3813643 |
| complement(10073) | - | c, a | dbSNP:116004611 |
| complement(10215) | - | g, a | dbSNP:79464508 |
| complement(10282) | - | t, c | dbSNP:3813642 |
| complement(10423) | - | c, a | dbSNP:111495165 |
| complement(10675) | - | t, c | dbSNP:73049409 |
| complement(10837) | - | g, a | dbSNP:16853669 |
| 10950 | + | c, t | dbSNP:1044952 |
| 10973 | + | a, g | dbSNP:3210839 |
| complement(11035) | - | t, c | dbSNP:77457023 |
| complement(11196) | - | g, c | dbSNP:80122319 |
| complement(11540) | - | t, c | dbSNP:114406329 |
| complement(11551) | - | g, a | dbSNP:9662858 |
| complement(11739) | - | g, a | dbSNP:112846260 |
| 11782 | + | a, t | dbSNP:1044972 |
| complement(11790) | - | t, c | dbSNP:112187916 |
| Gene Symbol | ABL2 |
| Gene Synonym | ABLL; ARG; FLJ22224; FLJ31718; FLJ41441 |
| Chromosome | 1 |
| Locus Map | 1q25.2 |
| All Transcripts | NM_001136001 , NM_007314 , NM_005158 , NM_001136000 , NM_001168236 , NM_001168237 , NM_001168238 , NM_001168239 |
| Title | An EGFR-Src-Arg-cortactin pathway mediates functional maturation of invadopodia and breast cancer cell invasion . |
| Author | Mader,C.C., Oser,M., Magalhaes,M.A., Bravo-Cordero,J.J., Condeelis,J., Koleske,A.J. and Gil-Henn,H. |
| Journal | Cancer Res. 71 (5), 1730-1741 (2011) |
| Title | Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study . |
| Author | Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H., Schreiber,S. and Nebel,A. |
| Journal | Mutat. Res. 694 (1-2), 13-19 (2010) |
| Title | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study . |
| Author | Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S. |
| Journal | Diabetes Care 33 (10), 2250-2253 (2010) |
| Title | Successful treatment using omacetaxine for a patient with CML and BCR-ABL1 [corrected] 35INS . |
| Author | Mahadeo,K.M. and Cole,P.D. |
| Journal | Blood 115 (18), 3852 (2010) |
| Title | Eight full-length abelson related gene (Arg) isoforms are constitutively expressed in caki-1 cell line and cell distribution of two isoforms has been analyzed after transfection . |
| Author | Bianchi,C., Torsello,B., Angeloni,V., Bombelli,S., Soldi,M., Invernizzi,L., Brambilla,P. and Perego,R.A. |
| Journal | J. Cell. Biochem. 105 (5), 1219-1227 (2008) |
| Title | N- and C-terminal isoforms of Arg quantified by real-time PCR are specifically expressed in human normal and neoplastic cells, in neoplastic cell lines, and in HL-60 cell differentiation . |
| Author | Perego,R.A., Corizzato,M., Bianchi,C., Eroini,B. and Bosari,S. |
| Journal | Mol. Carcinog. 42 (4), 229-239 (2005) |
| Title | Subcellular localization of the Arg protein tyrosine kinase . |
| Author | Wang,B. and Kruh,G.D. |
| Journal | Oncogene 13 (1), 193-197 (1996) |
| Title | A limited set of SH2 domains binds BCR through a high-affinity phosphotyrosine-independent interaction . |
| Author | Muller,A.J., Pendergast,A.M., Havlik,M.H., Puil,L., Pawson,T. and Witte,O.N. |
| Journal | Mol. Cell. Biol. 12 (11), 5087-5093 (1992) |
| Title | The complete coding sequence of arg defines the Abelson subfamily of cytoplasmic tyrosine kinases . |
| Author | Kruh,G.D., Perego,R., Miki,T. and Aaronson,S.A. |
| Journal | Proc. Natl. Acad. Sci. U.S.A. 87 (15), 5802-5806 (1990) |
| Title | A novel human gene closely related to the abl proto-oncogene . |
| Author | Kruh,G.D., King,C.R., Kraus,M.H., Popescu,N.C., Amsbaugh,S.C., McBride,W.O. and Aaronson,S.A. |
| Journal | Science 234 (4783), 1545-1548 (1986) |
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