Atlas of Genetics and Cytogenetics in Oncology and Haematology Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Atlas Journal Atlas Journal versus Atlas Database: the accumulation of the issues of the Journal constitutes the body of the Database/Text-Book. TABLE OF CONTENTS Volume 8, Number 2, Apr-Jun 2004 Previous Issue / Next Issue Genes ELKS (12p13.3). Tomoko Nakata, Shiro Minami, Mitsuru Emi. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 136-139. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/ELKSID503.html PAX5 (paired box gene 5) (9p13). Sabine Strehl. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 140-145. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PAX5ID62.html E2F6 (2p25.1). Matthew Oberley. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 146-152. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/E2F6ID521.html IGF2R (6q25-q27). J Keith Killian. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 153-158. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/IGF2RID380.html RBL2 (retinoblastoma-like 2) (16q12.2). Giuseppe Russo, Antonio Giordano, Pier Paolo Claudio. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 159-163. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/RBL2ID443.html TLX3 (T-cell leukemia, homeobox protein 3) (5q35.1). Roderick AF MacLeod, Stefan Nagel. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 164-170. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2004; 2 I URL : http://AtlasGeneticsOncology.org/Genes/TLX3ID398.html COX6C (cytochrome c oxidase subunit VIc) (8q22.2). Jean-Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 171-174. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/COX6CID251.html NTRK3 (15q25). Stevan Knezevich. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 175-181. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/NTRK3ID433.html PRDM16 (PR domain containing 16) (1p36.3). Jean-Loup Huret, Sylvie Senon. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 182-186. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/PRDM16MEL1ID408.html SNAI2 (SNAIL HOMOLOG 2) (8q11.21). Manuel Sánchez-Martín, Inés González-Herrero, Isidro Sánchez-García.. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 187-192. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Genes/SNAI2ID453.html Leukaemias Castleman's disease. Antonio Cuneo, Gianluigi Castoldi. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 193-196. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/CastlemanID2123.html inv(8)(p11q13). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 197-200. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/inv8p11q13ID1189.html t(7;12)(q36;p13) - updated. Anne RM von Bergh, H Berna Beverloo. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 201-204. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0712ID1177.html t(8;19)(p11;q13). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 205-207. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0819p11q13ID1315.html t(8;9)(p12;q33). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 208-210. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2004; 2 II URL : http://AtlasGeneticsOncology.org/Anomalies/t0809p12q33ID1129.html t(8;22)(p11;q13). Jacques Boyer. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 211-214. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0822p11q13ID1119.html 11q23 rearrangements in childhood acute lymphoblastic leukemia. Susana C Raimondi. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 215-229. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/11q23ChildALLID1321.html t(1;14)(q21;q32) BCL9/IGH; t(1;22)(q21;q11). Jean-Loup Huret. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 230-231. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/t0114q21q32ID1319.html del (13q). Edmond SK Ma, Thomas SK Wan. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 232-238. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/del13qID1310.html NK cell neoplasias. KF Wong. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 239-244. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Anomalies/NKCellNeoplasiaID2125.html Solid Tumours Ovarian tumours: an overview. Lisa Lee-Jones. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 245-255. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/OvarianTumOverviewID5231.html Ovary: Epithelial tumors. Lisa Lee-Jones. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 256-302. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/OvaryEpithTumID5230.html Lung: Non-small cell carcinoma. Jim Heighway, Daniel C Betticher. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 303-309. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Tumors/LungNonSmallCellID5141.html Lung tumors: an overview. Jim Heighway, Daniel C Betticher. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 310-315. [Full Text] [PDF] Atlas Genet Cytogenet Oncol Haematol 2004; 2 III URL : http://AtlasGeneticsOncology.org/Tumors/LungTumOverviewID5030.html Cancer Prone Diseases Deep Insights The vagaries of non-traditional mendelian recessive inheritance in uniparental disomy: AA x Aa = aa !. Eric Engel. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 316-328. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/UniparentDisomyID20046.html Transcription factors. Valentina Guasconi, Hakima Yahi, Slimane Ait-Si-Ali. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 329-333. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Deep/TranscripFactorsID20043.html Case Reports Educational Items Microdeletions and Molecular Genetics. Annick Vogels, Jean-Pierre Fryns. Atlas Genet Cytogenet Oncol Haematol 2004; 8 (2): 334-366. [Full Text] [PDF] URL : http://AtlasGeneticsOncology.org/Educ/MicrodeletionID30059ES.html © Atlas of Genetics and Cytogenetics in Oncology and Haematology X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA Home Genes Leukemias Solid Tumours Cancer-Prone Deep Insight Portal Teaching For comments and suggestions or contributions, please contact us [email protected]. Atlas Genet Cytogenet Oncol Haematol 2004; 2 IV Atlas of Genetics and Cytogenetics in Oncology and Haematology ELKS Identity Other rab6-interacting protein 2, ERC1 names Location 12p13.3 DNA/RNA Description at least 21 exons. 500 Kb Transcription 9.0 Kb and other smaller mRNAs ; alternative splicing: at least 5 isoforms (a, b, g, d, e) Protein Description a : 948 amino acids, b: 992 amino acids, g: 720 amino acids, d:1088 amino acids, e:1116 amino acids, containing eight to ten coiled-coil domains. Rich in glutamic acid (E), leucine (L), lysine (K) and serine (S). Mouse homolog of ELKS a subtype binds to RIM (Rab3-interacting molecule) which is presynaptic active zone protein and regulates neurotransmitter release. Mouse homologs of ELKS bind to rab6 which regulate intracellular transport. Expression Ubiquitous, a and b are abundant in the brain. d and e predominate in the testis, thyroid and other tissues. Function unknown Homology CAST or ERC2 Implicated in Disease papillary thyroid carcinoma Hybrid/Mutated 5' ELKS-3' RET in the t(10;12)(q11;p13) Gene Abnormal ELKS-RET Protein Oncogenesis constitutive activation of RET Breakpoints Note Intron 10 of ELKS and intron 11 of the RET. External links Atlas Genet Cytogenet Oncol Haematol 2004; 2 -136- Nomenclature GDB RAB6IP2 Entrez_Gene RAB6IP2 23085 RAB6 interacting protein 2 Cards Atlas ELKSID503 GeneCards RAB6IP2 Ensembl RAB6IP2 CancerGene ELKS Genatlas RAB6IP2 GeneLynx RAB6IP2 eGenome RAB6IP2 euGene 23085 Genomic and cartography RAB6IP2 - 12p13.3 chr12:970665-1472958 + 12p13.33 (hg17- GoldenPath May_2004) Ensembl RAB6IP2 - 12p13.33 [CytoView] NCBI Genes Cyto Gene Seq [Map View - NCBI] OMIM Disease map [OMIM] HomoloGene RAB6IP2 Gene and transcription Genbank X58046 [ SRS ] X58046 [ ENTREZ ] Genbank AB015617 [ SRS ] AB015617 [ ENTREZ ] Genbank AB029004 [ SRS ] AB029004 [ ENTREZ ] Genbank AB053468 [ SRS ] AB053468 [ ENTREZ ] Genbank AB053469 [ SRS ] AB053469 [ ENTREZ ] RefSeq NM_015064 [ SRS ] NM_015064 [ ENTREZ ] RefSeq NM_178037 [ SRS ] NM_178037 [ ENTREZ ] RefSeq NM_178038 [ SRS ] NM_178038 [ ENTREZ ] RefSeq NM_178039 [ SRS ] NM_178039 [ ENTREZ ] RefSeq NM_178040 [ SRS ] NM_178040 [ ENTREZ ] RefSeq NT_086791 [ SRS ] NT_086791 [ ENTREZ ] AceView RAB6IP2 AceView - NCBI TRASER RAB6IP2 Traser - Stanford Unigene Hs.400431 [ SRS ] Hs.400431 [ NCBI ] HS400431 [ spliceNest ] Protein : pattern, domain, 3D structure Polymorphism : SNP, mutations, diseases OMIM 607127 [ map ] GENECLINICS 607127 Atlas Genet Cytogenet Oncol Haematol 2004; 2 -137- SNP RAB6IP2 [dbSNP-NCBI] SNP NM_015064 [SNP-NCI] SNP NM_178037 [SNP-NCI] SNP NM_178038 [SNP-NCI] SNP NM_178039 [SNP-NCI] SNP NM_178040 [SNP-NCI] SNP RAB6IP2 [GeneSNPs - Utah] RAB6IP2 [SNP - CSHL] RAB6IP2] [HGBASE - SRS] General knowledge Family RAB6IP2 [UCSC Family Browser] Browser SOURCE NM_015064 SOURCE NM_178037 SOURCE NM_178038 SOURCE NM_178039 SOURCE NM_178040 SMD Hs.400431 SAGE Hs.400431 Amigo process|protein transport PubGene RAB6IP2 Other databases Probes PubMed PubMed 11 Pubmed reference(s) in LocusLink Bibliography Ret/PTC3 is the most frequent form of gene rearrangement in papillary thyroid