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.