Entity Details

Primary name SOX4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ06945
EntryNameSOX4_HUMAN
FullNameTranscription factor SOX-4
TaxID9606
Evidenceevidence at protein level
Length474
SequenceStatuscomplete
DateCreated1994-06-01
DateModified2021-06-02

Ontological Relatives

GenesSOX4

GO terms

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GOName
GO:0000785 chromatin
GO:0000976 transcription cis-regulatory region binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001501 skeletal system development
GO:0001841 neural tube formation
GO:0002328 pro-B cell differentiation
GO:0003183 mitral valve morphogenesis
GO:0003211 cardiac ventricle formation
GO:0003215 cardiac right ventricle morphogenesis
GO:0003289 atrial septum primum morphogenesis
GO:0003357 noradrenergic neuron differentiation
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription regulator complex
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0006355 regulation of transcription, DNA-templated
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest
GO:0007507 heart development
GO:0008284 positive regulation of cell population proliferation
GO:0008285 negative regulation of cell population proliferation
GO:0009653 anatomical structure morphogenesis
GO:0014009 glial cell proliferation
GO:0021510 spinal cord development
GO:0021522 spinal cord motor neuron differentiation
GO:0021782 glial cell development
GO:0030154 cell differentiation
GO:0030217 T cell differentiation
GO:0031018 endocrine pancreas development
GO:0031397 negative regulation of protein ubiquitination
GO:0031647 regulation of protein stability
GO:0032024 positive regulation of insulin secretion
GO:0035019 somatic stem cell population maintenance
GO:0035198 miRNA binding
GO:0035910 ascending aorta morphogenesis
GO:0042593 glucose homeostasis
GO:0042769 DNA damage response, detection of DNA damage
GO:0043065 positive regulation of apoptotic process
GO:0045588 positive regulation of gamma-delta T cell differentiation
GO:0045727 positive regulation of translation
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription by RNA polymerase II
GO:0048485 sympathetic nervous system development
GO:0050821 protein stabilization
GO:0060174 limb bud formation
GO:0060412 ventricular septum morphogenesis
GO:0060548 negative regulation of cell death
GO:0060563 neuroepithelial cell differentiation
GO:0060993 kidney morphogenesis
GO:0061484 hematopoietic stem cell homeostasis
GO:0071333 cellular response to glucose stimulus
GO:0090263 positive regulation of canonical Wnt signaling pathway
GO:1990837 sequence-specific double-stranded DNA binding
GO:2000761 positive regulation of N-terminal peptidyl-lysine acetylation

Subcellular Location

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Subcellular Location
Nucleus

Domains

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DomainNameCategoryType
IPR009071 High mobility group box domainDomainDomain
IPR017386 Transcription factor SOX-12/11/4FamilyFamily
IPR036910 High mobility group box domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618506 OMIMCoffin-Siris syndrome 10 (CSS10)A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. CSS10 is characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature. Hypotonia, ventricular septal defect, and spastic quadriparesis may also be present. CSS10 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Interactions

49 interactions

InteractorPartnerSourcesPublicationsLink
SOX4_HUMANP53_HUMANBioGRID, DIP19234109 details
SOX4_HUMANSDCB1_HUMANBioGRID, HPRD11498591 details
SOX4_HUMANUBC9_HUMANBioGRID, HPRD16631117 details
SOX4_HUMANTNNI3_HUMANBioGRID25969425 details
SOX4_HUMANSCNNG_HUMANBioGRID25969425 details
SOX4_HUMANMINP1_HUMANBioGRID25969425 details
SOX4_HUMANIGF1_HUMANBioGRID25969425 details
SOX4_HUMANPLD3_HUMANBioGRID25969425 details
SOX4_HUMANCAN15_HUMANBioGRID25969425 details
SOX4_HUMANFOXH1_HUMANBioGRID25969425 details
SOX4_HUMANRGSL_HUMANBioGRID25969425 details
SOX4_HUMANLMNB2_HUMANBioGRID25969425 details
SOX4_HUMANCTR9_HUMANBioGRID25969425 details
SOX4_HUMANITIH1_HUMANBioGRID25969425 details
SOX4_HUMANAPOC3_HUMANBioGRID25969425 details
SOX4_HUMANEDF1_HUMANBioGRID25969425 details
SOX4_HUMANNANGN_HUMANBioGRID25969425 details
SOX4_HUMANMNT_HUMANBioGRID25969425 details
SOX4_HUMANPLXB1_HUMANBioGRID25969425 details
SOX4_HUMANRP1L1_HUMANBioGRID25969425 details
SOX4_HUMANBAF_HUMANBioGRID25969425 details
SOX4_HUMANRHOU_HUMANBioGRID26598620 details
SOX4_HUMANAURKA_HUMANBioGRID28205554 details
SOX4_HUMANCDN2A_HUMANBioGRID28205554 details
SOX4_HUMANARF_HUMANBioGRID28205554 details
SOX4_HUMANDACH1_HUMANBioGRID28205554 details
SOX4_HUMANNSD3_HUMANBioGRID28205554 details
SOX4_HUMANAKT1_HUMANBioGRID28205554 details
SOX4_HUMANFZR1_HUMANBioGRID28205554 details
SOX4_HUMANRASK_HUMANBioGRID28205554 details
SOX4_HUMANMYC_HUMANBioGRID28205554 details
SOX4_HUMANNF1_HUMANBioGRID28205554 details
SOX4_HUMANMERL_HUMANBioGRID28205554 details
SOX4_HUMANSMCA4_HUMANBioGRID28205554 details
SOX4_HUMANSTK11_HUMANBioGRID28205554 details
SOX4_HUMANTERT_HUMANBioGRID28205554 details
SOX4_HUMANTSC1_HUMANBioGRID28205554 details
SOX4_HUMANWT1_HUMANBioGRID28205554 details
SOX4_HUMANGATA3_HUMANInnateDB22751141 details
SOX4_HUMANEP15R_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANUBP15_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANMCM2_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANMCM4_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANJIP4_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANMCM6_HUMANBioGRID, IntAct27173435 unassigned1312 details
SOX4_HUMANEP300_HUMANBioGRID, DIP19234109 details
SOX4_HUMANCBP_HUMANDIP19234109 details
SOX4_HUMANMDM2_HUMANBioGRID19234109 details
SOX4_HUMANTAF5_HUMANBioGRID23884650 details