Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	30812
Gene name	SRY-box transcription factor 8
Gene symbol	SOX8
Synonyms (NCBI Gene)	-
Chromosome	16
Chromosome location	16p13.3
Summary	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 activator after for

Show/Hide all (42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT040234	hsa-miR-615-3p	CLASH	23622248
MIRT1380768	hsa-miR-1	CLIP-seq
MIRT1380769	hsa-miR-1909	CLIP-seq
MIRT1380770	hsa-miR-206	CLIP-seq
MIRT1380771	hsa-miR-4658	CLIP-seq
MIRT1380772	hsa-miR-4758-5p	CLIP-seq
MIRT1380773	hsa-miR-4762-5p	CLIP-seq
MIRT1380774	hsa-miR-613	CLIP-seq
MIRT1380775	hsa-miR-663b	CLIP-seq
MIRT1380768	hsa-miR-1	CLIP-seq
MIRT1380769	hsa-miR-1909	CLIP-seq
MIRT2114005	hsa-miR-1976	CLIP-seq
MIRT1380770	hsa-miR-206	CLIP-seq
MIRT2114006	hsa-miR-4290	CLIP-seq
MIRT1380771	hsa-miR-4658	CLIP-seq
MIRT2114007	hsa-miR-4722-3p	CLIP-seq
MIRT2114008	hsa-miR-4731-5p	CLIP-seq
MIRT1380772	hsa-miR-4758-5p	CLIP-seq
MIRT2114009	hsa-miR-4763-5p	CLIP-seq
MIRT2114010	hsa-miR-486-3p	CLIP-seq
MIRT1380774	hsa-miR-613	CLIP-seq
MIRT1380775	hsa-miR-663b	CLIP-seq
MIRT2114011	hsa-miR-891b	CLIP-seq
MIRT2336993	hsa-miR-1202	CLIP-seq
MIRT2336994	hsa-miR-3194-5p	CLIP-seq
MIRT2336995	hsa-miR-3972	CLIP-seq
MIRT2336996	hsa-miR-4428	CLIP-seq
MIRT2336997	hsa-miR-4727-5p	CLIP-seq
MIRT2336998	hsa-miR-4769-3p	CLIP-seq
MIRT2336999	hsa-miR-520d-5p	CLIP-seq
MIRT2337000	hsa-miR-524-5p	CLIP-seq
MIRT2337001	hsa-miR-711	CLIP-seq
MIRT2460315	hsa-miR-3714	CLIP-seq
MIRT2460316	hsa-miR-4279	CLIP-seq
MIRT2460317	hsa-miR-4311	CLIP-seq
MIRT2460318	hsa-miR-4457	CLIP-seq
MIRT2460319	hsa-miR-4736	CLIP-seq
MIRT2460320	hsa-miR-4803	CLIP-seq
MIRT2460321	hsa-miR-513b	CLIP-seq
MIRT2460322	hsa-miR-548c-3p	CLIP-seq
MIRT2460323	hsa-miR-576-3p	CLIP-seq
MIRT2460324	hsa-miR-940	CLIP-seq

Show/Hide all (90)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000987	Function	Cis-regulatory region sequence-specific DNA binding	IEA
GO:0001649	Process	Osteoblast differentiation	IEA
GO:0001649	Process	Osteoblast differentiation	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001701	Process	In utero embryonic development	ISS
GO:0001755	Process	Neural crest cell migration	IEA
GO:0001755	Process	Neural crest cell migration	ISS
GO:0002009	Process	Morphogenesis of an epithelium	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	10684944
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IC	10662550
GO:0005634	Component	Nucleus	IDA	18512230
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0007422	Process	Peripheral nervous system development	IBA
GO:0007422	Process	Peripheral nervous system development	IEA
GO:0007422	Process	Peripheral nervous system development	ISS
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010817	Process	Regulation of hormone levels	IEA
GO:0010817	Process	Regulation of hormone levels	ISS
GO:0014015	Process	Positive regulation of gliogenesis	IEA
GO:0014015	Process	Positive regulation of gliogenesis	ISS
GO:0014032	Process	Neural crest cell development	IBA
GO:0033690	Process	Positive regulation of osteoblast proliferation	IEA
GO:0033690	Process	Positive regulation of osteoblast proliferation	ISS
GO:0035914	Process	Skeletal muscle cell differentiation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045165	Process	Cell fate commitment	IEA
GO:0045165	Process	Cell fate commitment	ISS
GO:0045444	Process	Fat cell differentiation	IEA
GO:0045444	Process	Fat cell differentiation	ISS
GO:0045662	Process	Negative regulation of myoblast differentiation	IEA
GO:0045662	Process	Negative regulation of myoblast differentiation	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	10662550
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046533	Process	Negative regulation of photoreceptor cell differentiation	IEA
GO:0048469	Process	Cell maturation	IEA
GO:0048484	Process	Enteric nervous system development	IBA
GO:0048484	Process	Enteric nervous system development	IEA
GO:0048484	Process	Enteric nervous system development	ISS
GO:0048709	Process	Oligodendrocyte differentiation	IEA
GO:0048709	Process	Oligodendrocyte differentiation	ISS
GO:0060009	Process	Sertoli cell development	IEA
GO:0060009	Process	Sertoli cell development	ISS
GO:0060018	Process	Astrocyte fate commitment	IEA
GO:0060041	Process	Retina development in camera-type eye	IEA
GO:0060041	Process	Retina development in camera-type eye	ISS
GO:0060221	Process	Retinal rod cell differentiation	IEA
GO:0060221	Process	Retinal rod cell differentiation	ISS
GO:0060612	Process	Adipose tissue development	IEA
GO:0060612	Process	Adipose tissue development	ISS
GO:0061138	Process	Morphogenesis of a branching epithelium	IEA
GO:0061138	Process	Morphogenesis of a branching epithelium	ISS
GO:0072034	Process	Renal vesicle induction	IEA
GO:0072034	Process	Renal vesicle induction	ISS
GO:0072197	Process	Ureter morphogenesis	IEA
GO:0072197	Process	Ureter morphogenesis	ISS
GO:0072289	Process	Metanephric nephron tubule formation	IEA
GO:0072289	Process	Metanephric nephron tubule formation	ISS
GO:0090184	Process	Positive regulation of kidney development	IEA
GO:0090184	Process	Positive regulation of kidney development	ISS
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	IEA
GO:0090190	Process	Positive regulation of branching involved in ureteric bud morphogenesis	ISS
GO:0140297	Function	DNA-binding transcription factor binding	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

MIM	HGNC	e!Ensembl
605923	11203	ENSG00000005513

P57073

Protein name

Transcription factor SOX-8

Protein function

Transcription factor that may play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity).

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12444	Sox_N	18 → 89	Sox developmental protein N terminal	Family
PF00505	HMG_box	102 → 170	HMG (high mobility group) box	Domain

Sequence

MLDMSEARSQPPCSPSGTASSMSHVEDSDSDAPPSPAGSEGLGRAGVAVGGARGDPAEAA
DERFPACIRDAVSQVLKGYDWSLVPMPVRGGGGGALKAKPHVKRPMNAFMVWAQAARRKL
ADQYPHLHNAELSKTLGKLWRLLSESEKRPFVEEAERLRVQHKKDHPDYKYQPRRRKSAK
AGHSDSDSGAELGPHPGGGAVYKAEAGLGDGHHHGDHTGQTHGPPTPPTTPKTELQQAGA
KPELKLEGRRPVDSGRQNIDFSNVDISELSSEVMGTMDAFDVHEFDQYLPLGGPAPPEPG
QAYGGAYFHAGASPVWAHKSAPSASASPTETGPPRPHIKTEQPSPGHYGDQPRGSPDYGS
CSGQSSATPAAPAGPFAGSQGDYGDLQASSYYGAYPGYAPGLYQYPCFHSPRRPYASPLL
NGLALPPAHSPTSHWDQPVYTTLTRP

Sequence length

446

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
46,XY disorder of sex development	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE SCLEROSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-NEOPLASTIC PERIPHERAL NERVOUS SYSTEM DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NERVOUS SYSTEM DISEASES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX8-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (42)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	29373757		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type	alpha-Thalassemia Mental Retardation Syndrome	BEFREE	10662550		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	35173526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	30810729		★★★★★ ★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	21212101, 30902252, 31194875		★★★★★ ★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	31194875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35465267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	35173526	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	10684944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31277140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31277140	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21212101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	BEFREE	21212101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	BEFREE	21212101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	29373757, 36631813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33190587	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	30507699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	29373757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	29373757	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36672963	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
LAMB-SHAFFER SYNDROME	LAMB-SHAFFER SYNDROME	BEFREE	30902252		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	24643625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25400731, 25550787	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	30810729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24643625, 29071717, 30810729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	BEFREE	10684944		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	20864405		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23739915		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	25400731, 25550787, 29071717, 31277140		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25400731, 25550787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	32767319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39595984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	33020491	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Nervous System Diseases	Nervous System Diseases	CTD_human_DG	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20864405		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21212101		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	29504848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29071717		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30810729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	30507699		★★★★★ ★☆☆☆☆ Found in Text Mining only
WAARDENBURG SYNDROME, TYPE 4A	Waardenburg syndrome	BEFREE	31194875		★★★★★ ★☆☆☆☆ Found in Text Mining only

SOX8 (SRY-box transcription factor 8)