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

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
46,XY disorder of sex development	Uncertain significance	rs1596200787, rs2073438812	RCV003126297 RCV003126303
SOX8-related disorder	Benign; Likely benign	rs11542178, rs200231150, rs138803573, rs112373912, rs11542179, rs374897868, rs112081163, rs201672745, rs201343442, rs146760359, rs778698678, rs368239054, rs529012200, rs56253414, rs755889006, rs59101954, rs183697287, rs150846324 View all (3 more)	RCV003984101 RCV003966365 RCV003919125 RCV003946546 RCV003984666 RCV003912165 RCV003974063 RCV003911615 RCV003909687 RCV003911853 RCV003917211 RCV003941531 RCV003949663 RCV003976684 RCV003962181 RCV003935877 RCV003970841 RCV003928482

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anophthalmia with pulmonary hypoplasia	Associate	35173526
Campomelic Dysplasia	Associate	31194875
Carcinoma Hepatocellular	Associate	35465267
Carcinoma Non Small Cell Lung	Associate	25400731, 25550787
Carcinoma Pancreatic Ductal	Associate	35173526
Chromosome Disorders	Associate	36631813
Colorectal Neoplasms	Associate	31277140
Disorder of Sex Development 46 XY	Associate	29373757, 36631813
Drug Related Side Effects and Adverse Reactions	Associate	40460162
Endometrial Neoplasms	Associate	33190587
Infertility	Associate	29373757
Infertility Male	Associate	29373757
Intellectual Disability	Associate	36672963
Lymphatic Metastasis	Stimulate	25400731, 25550787
Myopathies Structural Congenital	Associate	31194875
Neoplasm Metastasis	Associate	31277140, 36246971
Neoplasm Metastasis	Stimulate	33190587
Neoplasms	Stimulate	25400731, 25550787, 33190587
Neoplasms	Associate	31194875, 31277140, 35173526, 36246971
Osteoarthritis	Associate	32767319
Ovarian Diseases	Associate	39595984
Ovarian Neoplasms	Associate	33020491
Primary Ovarian Insufficiency	Associate	29373757, 39595984
Prostatic Neoplasms Castration Resistant	Associate	36246971
Reproductive Tract Infections	Associate	29373757
Sex Chromosome Disorders of Sex Development	Associate	29373757
Sexual Dysfunction Physiological	Associate	31194875
Sjogren's Syndrome	Associate	29504848

SOX8 (SRY-box transcription factor 8)