SOX5 (SRY-box transcription factor 5)

2007-11-01  

Identity

HGNC
LOCATION
12p12.1
LOCUSID
ALIAS
L-SOX5,L-SOX5B,L-SOX5F,LAMSHF
FUSION GENES

Other Information

Locus ID:

NCBI: 6660
MIM: 604975
HGNC: 11201
Ensembl: ENSG00000134532

Variants:

dbSNP: 6660
ClinVar: 6660
TCGA: ENSG00000134532
COSMIC: SOX5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134532ENST00000367206I3L0A5
ENSG00000134532ENST00000381381P35711
ENSG00000134532ENST00000396007P35711
ENSG00000134532ENST00000441133G3V0H1
ENSG00000134532ENST00000446891A0A2R8Y5Q1
ENSG00000134532ENST00000451604P35711
ENSG00000134532ENST00000451604A0A024RB06
ENSG00000134532ENST00000536729A0A2R8Y7P3
ENSG00000134532ENST00000537393F5H0I3
ENSG00000134532ENST00000538083F5GWL1
ENSG00000134532ENST00000541847F5H876
ENSG00000134532ENST00000545921P35711
ENSG00000134532ENST00000646273P35711
ENSG00000134532ENST00000659413A0A590UJ80

Expression (GTEx)

0
5
10
15
20

References

Pubmed IDYearTitleCitations
200620602010Genome-wide association study of PR interval.185
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
289694422018Psychiatric Genomics: An Update and an Agenda.88
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.61
197543112009Genomewide association study of a rapid progression cohort identifies new susceptibility alleles for AIDS (ANRS Genomewide Association Study 03).53
201952662011Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.49
253054472015MiR-132, miR-15a and miR-16 synergistically inhibit pituitary tumor cell proliferation, invasion and migration by targeting Sox5.48
222906572012Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.32
225470662012L-Sox5 and Sox6 proteins enhance chondrogenic miR-140 microRNA expression by strengthening dimeric Sox9 activity.27

Citation

Dessen P

SOX5 (SRY-box transcription factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-11-01

Online version: http://atlasgeneticsoncology.org/gene/49803/sox5