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ECT2L

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Protein-coding gene in the species Homo sapiens
ECT2L
Identifiers
AliasesECT2L, ARHGEF32, C6orf91, FBXO49, LFDH, dJ509I19.2, dJ509I19.3, dJ509I19.5, epithelial cell transforming 2 like
External IDsMGI: 3641723; HomoloGene: 46005; GeneCards: ECT2L; OMA:ECT2L - orthologs
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)
Chromosome 6 (human)Genomic location for ECT2LGenomic location for ECT2L
Band6q24.1Start138,795,911 bp
End138,904,070 bp
Gene location (Mouse)
Chromosome 10 (mouse)
Chr.Chromosome 10 (mouse)
Chromosome 10 (mouse)Genomic location for ECT2LGenomic location for ECT2L
Band10|10 A3Start18,004,651 bp
End18,086,638 bp
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • right uterine tube

  • olfactory zone of nasal mucosa

  • left ventricle

  • right lung

  • Achilles tendon

  • Pituitary Gland

  • gonad

  • right auricle

  • 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
SpeciesHumanMouse
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 MbChr 10: 18 – 18.09 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse

Epithelial cell transforming sequence 2 oncogene-like is a protein that in humans is encoded by the ECT2L gene.

Clinical relevance

Recurrent mutations of this gene have been associated to cases of acute lymphoblastic leukaemia.

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.

Further reading


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