SOX5
Identifiers
Aliases	SOX5, L-L-SOX5B, L-SOX5F, LAMSHF, SRY-box 5, SRY-box transcription factor 5
External IDs	OMIM: 604975 MGI: 98367 HomoloGene: 21378 GeneCards: SOX5
Gene location (Human) Chr. Chromosome 12 (human)[1] Band 12p12.1 Start 23,529,504 bp[1] End 24,562,544 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6 G3|6 76.14 cM Start 143,828,425 bp[2] End 144,781,977 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Achilles tendon synovial joint sural nerve tibia ganglionic eminence corpus callosum retinal pigment epithelium entorhinal cortex internal globus pallidus endothelial cell Top expressed in seminiferous tubule spermatid ganglionic eminence subiculum foot ankle joint lateral geniculate nucleus external carotid artery medial ganglionic eminence pontine nuclei More reference expression data BioGPS More reference expression data
Gene ontology Molecular function DNA-binding transcription factor activity DNA binding protein binding DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component nucleus Biological process cellular response to transforming growth factor beta stimulus regulation of transcription, DNA-templated transcription by RNA polymerase II positive regulation of cartilage development positive regulation of chondrocyte differentiation positive regulation of mesenchymal stem cell differentiation transcription, DNA-templated asymmetric neuroblast division regulation of transcription by RNA polymerase II cell fate commitment negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 6660 20678 Ensembl ENSG00000134532 ENSMUSG00000041540 UniProt P35711 P35710 RefSeq (mRNA) NM_001261414 NM_001261415 NM_006940 NM_152989 NM_178010 NM_001330785 NM_001113559 NM_001243163 NM_011444 NM_001347506 RefSeq (protein) NP_001248343 NP_001248344 NP_001317714 NP_008871 NP_694534 NP_821078 NP_001107031 NP_001230092 NP_001334435 NP_035574 Location (UCSC) Chr 12: 23.53 – 24.56 Mb Chr 6: 143.83 – 144.78 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transcription factor SOX-5 is a protein that in humans is encoded by the SOX5 gene.^[5][6]

Function

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.^[6]

Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome.