Gene: SOX4

Alternate names for this Gene: CSS10|EVI16

Gene Summary: This intronless 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein.

Gene is located in Chromosome: 6

Location in Chromosome : 6p22.3

Description of this Gene: SRY-box transcription factor 4

Type of Gene: protein-coding

rs1334099693 in SOX4 gene and Clinodactyly of the 5th finger PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Constipation PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Deglutition Disorders PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Exaggerated cupid's bow PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Feeding difficulties in infancy PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Intrauterine retardation PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Macrostomia PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Posteriorly rotated ear PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Progressive microcephaly PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Seizures PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

rs1334099693 in SOX4 gene and Ventricular Septal Defects PMID 30661772 2019 De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.