|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:L-SOX5
gptkb:SOX-5
gptkb:SOXD
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Lamb-Shaffer_syndrome
gptkb:autism_spectrum_disorder
intellectual disability
skeletal dysplasia
|
|
gptkbp:discoveredIn
|
1997
|
|
gptkbp:encodes
|
gptkb:SOX5_protein
|
|
gptkbp:Entrez_Gene_ID
|
6660
ENSG00000134532
|
|
gptkbp:expressedIn
|
brain
collagen
|
|
gptkbp:fullName
|
gptkb:SRY-box_transcription_factor_5
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:SOX6
gptkb:SOX13
|
|
gptkbp:hasTranscriptVariant
|
SOX5-001
SOX5-002
SOX5-003
|
|
gptkbp:HGNC_ID
|
11195
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SOX5
|
|
gptkbp:interactsWith
|
gptkb:SOX6
gptkb:SOX9
|
|
gptkbp:involvedIn
|
neurogenesis
chondrogenesis
|
|
gptkbp:length
|
31,000 bp
750 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12
|
|
gptkbp:memberOf
|
gptkb:SOX_family
|
|
gptkbp:mutationAssociatedWith
|
developmental delay
|
|
gptkbp:OMIM
|
604975
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Sox5
|
|
gptkbp:proteinFamily
|
HMG-box domain
|
|
gptkbp:referenceGenome
|
gptkb:GRCh38
|
|
gptkbp:regulates
|
gptkb:ACAN
gptkb:COL2A1
gptkb:COMP
gene expression
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
Q9NQW7
|
|
gptkbp:bfsParent
|
gptkb:SOX_gene
gptkb:SOX_proteins
gptkb:Sry-related_HMG-box_(SOX)_gene_family
gptkb:chromosome_12
|
|
gptkbp:bfsLayer
|
6
|