ECT2L

ECT2L
Identifiers
Aliases	ECT2L , ARHGEF32, C6orf91, FBXO49, LFDH, dJ509I19.2, dJ509I19.3, dJ509I19.5, epithelial cell transforming 2 like
External IDs	MGI: 3641723; HomoloGene: 46005; GeneCards: ECT2L; OMA:ECT2L - orthologs
Gene location (Human) Chr. Chromosome 6 (human) [1] Band 6q24.1 Start 138,795,911 bp [1] End 138,904,070 bp [1]
Gene location (Mouse) Chr. Chromosome 10 (mouse) [2] Band 10|10 A3 Start 18,004,651 bp [2] End 18,086,638 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube olfactory zone of nasal mucosa left ventricle right lung Achilles tendon pituitary gland gonad right auricle of heart anterior pituitary endometrium Top expressed in embryo hypothalamus embryo ovary proximal tubule lung right kidney olfactory bulb thymus muscle tissue More reference expression data BioGPS n/a
Orthologs Species Human Mouse Entrez 345930 100045792 Ensembl ENSG00000203734 ENSMUSG00000071392 UniProt Q008S8 n/a RefSeq (mRNA) NM_001077706 NM_001195037 NM_001195036 NM_001370991 RefSeq (protein) NP_001071174 NP_001181966 n/a Location (UCSC) Chr 6: 138.8 – 138.9 Mb Chr 10: 18 – 18.09 Mb PubMed search [3] [4]
Wikidata
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Epithelial cell transforming sequence 2 oncogene-like is a protein that in humans is encoded by the ECT2L gene. ^[5]

Clinical relevance

Recurrent mutations of this gene have been associated to cases of acute lymphoblastic leukaemia. ^[6]

References

1. GRCh38: Ensembl release 89: ENSG00000203734 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000071392 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: Epithelial cell transforming sequence 2 oncogene-like" . Retrieved 2012-02-19.
6. Zhang J, Ding L, Holmfeldt L, Wu G, Heatley SL, Payne-Turner D, Easton J, Chen X, Wang J, Rusch M, Lu C, Chen SC, Wei L, Collins-Underwood JR, Ma J, Roberts KG, Pounds SB, Ulyanov A, Becksfort J, Gupta P, Huether R, Kriwacki RW, Parker M, McGoldrick DJ, Zhao D, Alford D, Espy S, Bobba KC, Song G, Pei D, Cheng C, Roberts S, Barbato MI, Campana D, Coustan-Smith E, Shurtleff SA, Raimondi SC, Kleppe M, Cools J, Shimano KA, Hermiston ML, Doulatov S, Eppert K, Laurenti E, Notta F, Dick JE, Basso G, Hunger SP, Loh ML, Devidas M, Wood B, Winter S, Dunsmore KP, Fulton RS, Fulton LL, Hong X, Harris CC, Dooling DJ, Ochoa K, Johnson KJ, Obenauer JC, Evans WE, Pui CH, Naeve CW, Ley TJ, Mardis ER, Wilson RK, Downing JR, Mullighan CG (2012). "The genetic basis of early T-cell precursor acute lymphoblastic leukaemia". Nature. 481 (7380): 157–163. Bibcode:2012Natur.481..157Z. doi:10.1038/nature10725. PMC   3267575 . PMID   22237106.