|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:L-SOX5
gptkb:SOXD
SOX5_HUMAN
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Lamb-Shaffer_syndrome
|
|
gptkbp:binds
|
gptkb:gene
|
|
gptkbp:discoveredBy
|
S. Wegner et al.
|
|
gptkbp:domain
|
HMG-box
|
|
gptkbp:encodes
|
gptkb:SRY-box_transcription_factor_5
|
|
gptkbp:Entrez_Gene_ID
|
6660
|
|
gptkbp:expressedIn
|
gptkb:testis
brain
collagen
|
|
gptkbp:firstDescribed
|
1995
|
|
gptkbp:function
|
transcription factor
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
11195
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Sox5
|
|
gptkbp:involvedIn
|
neurogenesis
chondrogenesis
|
|
gptkbp:length
|
763 amino acids (human)
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_12_(human)
|
|
gptkbp:memberOf
|
gptkb:SOX_gene_family
|
|
gptkbp:mutationAssociatedWith
|
gptkb:autism_spectrum_disorder
intellectual disability
developmental delay
skeletal abnormalities
speech delay
|
|
gptkbp:OMIM
|
604975
|
|
gptkbp:orthologIn
|
gptkb:mouse
gptkb:zebrafish
vertebrates
|
|
gptkbp:regulates
|
gptkb:GDF5
gptkb:SOX6
gptkb:ACAN
gptkb:COL2A1
gptkb:SOX9
gptkb:COMP
gptkb:MMP13
gptkb:SOX10
gptkb:SOX8
gene expression
NKX3-2
RUNX2
SOX-D group
|
|
gptkbp:species
|
gptkb:Mus_musculus
gptkb:Homo_sapiens
|
|
gptkbp:UniProtID
|
P35711
|
|
gptkbp:bfsParent
|
gptkb:SOX5
|
|
gptkbp:bfsLayer
|
7
|