Gene: SOX5
Alternate names for this Gene: L-SOX5|L-SOX5B|L-SOX5F|LAMSHF
Gene Summary: This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
Gene is located in Chromosome: 12
Location in Chromosome : 12p12.1
Description of this Gene: SRY-box transcription factor 5
Type of Gene: protein-coding
rs11047447 in
SOX5 gene and
Age at menarche
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2291437 in
SOX5 gene and
Atrial Fibrillation
PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
rs10842262 in
SOX5 gene and
Azoospermia
PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
rs12310519 in
SOX5 gene and
Back Pain
PMID 30261039 2018 Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain.
rs10771005 in
SOX5 gene and
Body Height
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
rs10842240 in
SOX5 gene and
Body mass index
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
PMID 30108127 2018 A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci.
PMID 26426971 2015 The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.
rs10842183 in
SOX5 gene and
Corneal Topography
PMID 22003120 2011 Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
rs4399402 in
SOX5 gene and
Creatinine measurement, serum (procedure)
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs1909350 in
SOX5 gene and
Finding of Mean Corpuscular Hemoglobin
PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs112137861 in
SOX5 gene and
Follicle stimulating hormone measurement
PMID 26284813 2015 Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.
rs4399402 in
SOX5 gene and
Glomerular Filtration Rate
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs869025321 in
SOX5 gene and
LAMB-SHAFFER SYNDROME
PMID 26111154 2015 Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
rs17487383 in
SOX5 gene and
Major Depressive Disorder
PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.
PMID 29700475 2018 Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
PMID 30718901 2019 Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.
rs1555301854 in
SOX5 gene and
Muscle hypotonia
PMID 27479843 2016 Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
PMID 26111154 2015 Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
PMID 23220431 2013 Haploinsufficiency of SOX5, a member of the SOX (SRY-related HMG-box) family of transcription factors is a cause of intellectual disability.
PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.
PMID 29214085 2017 SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral Abnormalities.
PMID 22290657 2012 Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
rs1039229 in
SOX5 gene and
Non-obstructive azoospermia
PMID 22197933 2011 A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
PMID 22197933 2011 The combined analyses identified significant (P < 5.0 × 10(-8)) associations between NOA risk and common variants near PRMT6 (rs12097821 at 1p13.3: odds ratio (OR) = 1.25, P = 5.7 × 10(-10)), PEX10 (rs2477686 at 1p36.32: OR = 1.39, P = 5.7 × 10(-12)) and SOX5 (rs10842262 at 12p12.1: OR = 1.23, P = 2.3 × 10(-9)).
rs112137861 in
SOX5 gene and
Polycystic Ovary Syndrome
PMID 26284813 2015 Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations.
rs7314326 in
SOX5 gene and
Schizophrenia
PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.
rs11047102 in
SOX5 gene and
Systemic Scleroderma
PMID 21779181 2011 Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
rs7976167 in
SOX5 gene and
Systolic Pressure
PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
rs2686335 in
SOX5 gene and
mathematical ability
PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.