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

Gene Gene information from NCBI Gene database. Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	83595
Gene name	SRY-box transcription factor 7
Gene symbol	SOX7
Synonyms (NCBI Gene)	-
Chromosome	8
Chromosome location	8p23.1
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 regulator after for

157

Show/Hide all (157)

miRTarBase ID	miRNA	Experiments	Reference
MIRT054539	hsa-miR-184	FlowLuciferase reporter assayqRT-PCRWestern blot	24558429
MIRT054539	hsa-miR-184	FlowLuciferase reporter assayqRT-PCRWestern blot	24558429
MIRT633798	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT633797	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT633796	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT633795	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633794	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT633793	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633792	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT732359	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28266181
MIRT732359	hsa-miR-9-5p	Luciferase reporter assayqRT-PCRWestern blot	28266181
MIRT733997	hsa-miR-21-3p	Luciferase reporter assayNorthern blottingqRT-PCRWestern blotting	32782620
MIRT633798	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT633797	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT633796	hsa-miR-6736-3p	HITS-CLIP	23824327
MIRT633795	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT633794	hsa-miR-6787-3p	HITS-CLIP	23824327
MIRT633793	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT633792	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT1380716	hsa-miR-122	CLIP-seq
MIRT1380717	hsa-miR-1229	CLIP-seq
MIRT1380718	hsa-miR-124	CLIP-seq
MIRT1380719	hsa-miR-1273e	CLIP-seq
MIRT1380720	hsa-miR-130a	CLIP-seq
MIRT1380721	hsa-miR-130b	CLIP-seq
MIRT1380722	hsa-miR-181a	CLIP-seq
MIRT1380723	hsa-miR-181b	CLIP-seq
MIRT1380724	hsa-miR-181c	CLIP-seq
MIRT1380725	hsa-miR-181d	CLIP-seq
MIRT1380726	hsa-miR-21	CLIP-seq
MIRT1380727	hsa-miR-301a	CLIP-seq
MIRT1380728	hsa-miR-301b	CLIP-seq
MIRT1380729	hsa-miR-3135b	CLIP-seq
MIRT1380730	hsa-miR-3164	CLIP-seq
MIRT1380731	hsa-miR-3178	CLIP-seq
MIRT1380732	hsa-miR-342-3p	CLIP-seq
MIRT1380733	hsa-miR-3613-3p	CLIP-seq
MIRT1380734	hsa-miR-3617	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT1380736	hsa-miR-3666	CLIP-seq
MIRT1380737	hsa-miR-3689a-5p	CLIP-seq
MIRT1380738	hsa-miR-3689b	CLIP-seq
MIRT1380739	hsa-miR-3689e	CLIP-seq
MIRT1380740	hsa-miR-3689f	CLIP-seq
MIRT1380741	hsa-miR-4262	CLIP-seq
MIRT1380742	hsa-miR-4295	CLIP-seq
MIRT1380743	hsa-miR-4428	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT1380746	hsa-miR-448	CLIP-seq
MIRT1380747	hsa-miR-4494	CLIP-seq
MIRT1380748	hsa-miR-4509	CLIP-seq
MIRT1380749	hsa-miR-452	CLIP-seq
MIRT1380750	hsa-miR-454	CLIP-seq
MIRT1380751	hsa-miR-4634	CLIP-seq
MIRT1380752	hsa-miR-4676-3p	CLIP-seq
MIRT1380753	hsa-miR-4677-3p	CLIP-seq
MIRT1380754	hsa-miR-4679	CLIP-seq
MIRT1380755	hsa-miR-4684-3p	CLIP-seq
MIRT1380756	hsa-miR-4712-3p	CLIP-seq
MIRT1380757	hsa-miR-4774-5p	CLIP-seq
MIRT1380758	hsa-miR-483-3p	CLIP-seq
MIRT1380759	hsa-miR-499a-5p	CLIP-seq
MIRT1380760	hsa-miR-506	CLIP-seq
MIRT1380761	hsa-miR-548ad	CLIP-seq
MIRT1380762	hsa-miR-590-5p	CLIP-seq
MIRT1380763	hsa-miR-641	CLIP-seq
MIRT1380764	hsa-miR-646	CLIP-seq
MIRT1380765	hsa-miR-654-3p	CLIP-seq
MIRT1380766	hsa-miR-664	CLIP-seq
MIRT1380767	hsa-miR-7	CLIP-seq
MIRT1380718	hsa-miR-124	CLIP-seq
MIRT2113993	hsa-miR-1909	CLIP-seq
MIRT2113994	hsa-miR-1976	CLIP-seq
MIRT2113995	hsa-miR-3614-3p	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT2113996	hsa-miR-3691-3p	CLIP-seq
MIRT2113997	hsa-miR-4279	CLIP-seq
MIRT2113998	hsa-miR-4297	CLIP-seq
MIRT1380743	hsa-miR-4428	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT2113999	hsa-miR-4675	CLIP-seq
MIRT2114000	hsa-miR-4716-5p	CLIP-seq
MIRT2114001	hsa-miR-4722-3p	CLIP-seq
MIRT2114002	hsa-miR-4741	CLIP-seq
MIRT1380760	hsa-miR-506	CLIP-seq
MIRT2114003	hsa-miR-5095	CLIP-seq
MIRT2114004	hsa-miR-562	CLIP-seq
MIRT1380716	hsa-miR-122	CLIP-seq
MIRT1380720	hsa-miR-130a	CLIP-seq
MIRT1380721	hsa-miR-130b	CLIP-seq
MIRT2336984	hsa-miR-151-3p	CLIP-seq
MIRT1380726	hsa-miR-21	CLIP-seq
MIRT2336985	hsa-miR-216a	CLIP-seq
MIRT1380727	hsa-miR-301a	CLIP-seq
MIRT1380728	hsa-miR-301b	CLIP-seq
MIRT1380729	hsa-miR-3135b	CLIP-seq
MIRT2336986	hsa-miR-3162-5p	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT1380736	hsa-miR-3666	CLIP-seq
MIRT1380737	hsa-miR-3689a-5p	CLIP-seq
MIRT1380738	hsa-miR-3689b	CLIP-seq
MIRT1380739	hsa-miR-3689e	CLIP-seq
MIRT1380740	hsa-miR-3689f	CLIP-seq
MIRT1380742	hsa-miR-4295	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT2336987	hsa-miR-4463	CLIP-seq
MIRT2336988	hsa-miR-4499	CLIP-seq
MIRT1380749	hsa-miR-452	CLIP-seq
MIRT1380750	hsa-miR-454	CLIP-seq
MIRT2336989	hsa-miR-4639-3p	CLIP-seq
MIRT2113999	hsa-miR-4675	CLIP-seq
MIRT1380752	hsa-miR-4676-3p	CLIP-seq
MIRT1380753	hsa-miR-4677-3p	CLIP-seq
MIRT1380754	hsa-miR-4679	CLIP-seq
MIRT1380755	hsa-miR-4684-3p	CLIP-seq
MIRT2336990	hsa-miR-4731-5p	CLIP-seq
MIRT2114002	hsa-miR-4741	CLIP-seq
MIRT2114003	hsa-miR-5095	CLIP-seq
MIRT2336991	hsa-miR-512-3p	CLIP-seq
MIRT1380762	hsa-miR-590-5p	CLIP-seq
MIRT2336992	hsa-miR-640	CLIP-seq
MIRT1380765	hsa-miR-654-3p	CLIP-seq
MIRT2113993	hsa-miR-1909	CLIP-seq
MIRT2113995	hsa-miR-3614-3p	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT1380716	hsa-miR-122	CLIP-seq
MIRT2460312	hsa-miR-203	CLIP-seq
MIRT1380729	hsa-miR-3135b	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT2336989	hsa-miR-4639-3p	CLIP-seq
MIRT2460313	hsa-miR-4653-3p	CLIP-seq
MIRT1380755	hsa-miR-4684-3p	CLIP-seq
MIRT2460314	hsa-miR-4694-3p	CLIP-seq
MIRT1380716	hsa-miR-122	CLIP-seq
MIRT1380720	hsa-miR-130a	CLIP-seq
MIRT1380721	hsa-miR-130b	CLIP-seq
MIRT2336985	hsa-miR-216a	CLIP-seq
MIRT1380727	hsa-miR-301a	CLIP-seq
MIRT1380728	hsa-miR-301b	CLIP-seq
MIRT1380729	hsa-miR-3135b	CLIP-seq
MIRT1380735	hsa-miR-3652	CLIP-seq
MIRT1380736	hsa-miR-3666	CLIP-seq
MIRT1380742	hsa-miR-4295	CLIP-seq
MIRT1380744	hsa-miR-4430	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT1380750	hsa-miR-454	CLIP-seq
MIRT1380745	hsa-miR-4438	CLIP-seq
MIRT2691791	hsa-miR-501-3p	CLIP-seq
MIRT2691792	hsa-miR-502-3p	CLIP-seq
MIRT2691793	hsa-miR-767-5p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
FOS	Activation	22171135
JUN	Activation	22171135

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	ISS
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	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:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0001706	Process	Endoderm formation	IDA	18682240
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	19108950
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	18682240, 19108950
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	18819930
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0009888	Process	Tissue development	IEA
GO:0030154	Process	Cell differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	19108950
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0048646	Process	Anatomical structure formation involved in morphogenesis	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
612202	18196	ENSG00000171056

Q9BT81

Protein name

Transcription factor SOX-7

Protein function

Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the surv

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00505	HMG_box	45 → 113	HMG (high mobility group) box	Domain
PF12067	Sox17_18_mid	181 → 236	Sox 17/18 central domain	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Present both in mesenchymal and epithelial cells in some adult tissues, including colon. Tends to be down-regulated in prostate adenocarcinomas and colorectal tumors due to promoter hypermet

Sequence

MASLLGAYPWPEGLECPALDAELSDGQSPPAVPRPPGDKGSESRIRRPMNAFMVWAKDER
KRLAVQNPDLHNAELSKMLGKSWKALTLSQKRPYVDEAERLRLQHMQDYPNYKYRPRRKK
QAKRLCKRVDPGFLLSSLSRDQNALPEKRSGSRGALGEKEDRGEYSPGTALPSLRGCYHE
GPAGGGGGGTPSSVDTYPYGLPTPPEMSPLDVLEPEQTFFSSPCQEEHGHPRRIPHLPGH
PYSPEYAPSPLHCSHPLGSLALGQSPGVSMMSPVPGCPPSPAYYSPATYHPLHSNLQAHL
GQLSPPPEHPGFDALDQLSQVELLGDMDRNEFDQYLNTPGHPDSATGAMALSGHVPVSQV
TPTGPTETSLISVLADATATYYNSYSVS

Sequence length

388

Interactions

View interactions

	Reactome
			Deactivation of the beta-catenin transactivating complex

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.
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SOX7-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	18663352, 28102292	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Inhibit	22777918	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	19110721, 25407488, 29757932, 32238796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	27188720	★★★★★ ★☆☆☆☆ Found in Text Mining only
Campomelic Dysplasia	Associate	36672963	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	27188720, 35222878	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Inhibit	23295859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Associate	24558429, 25073511, 27697092	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	24816720, 28586005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Inhibit	23557216, 28266181	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Associate	22929023	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Associate	30473377	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystadenocarcinoma Serous	Inhibit	25297608	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Associate	35222878	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	23295859	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Associate	29271996	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Associate	24009689, 28336264	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Associate	24009689	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Inhibit	35645102	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Lymphocytic Chronic B Cell	Associate	28572861	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Associate	34768865	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lichen Planus Oral	Associate	35256894	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Inhibit	23557216	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	28266181	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Inhibit	22777918, 32238796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Associate	22706399	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Associate	30381030	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	35645102	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	18663352, 25297608, 32238796	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Inhibit	24816720, 25073511, 25407488, 27188720, 28586005, 29757932, 35222878	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Inhibit	25297608	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Associate	32521870	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Carcinoma	Inhibit	28586005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Inhibit	28586005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	35222878	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Associate	28586005	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schmid Fraccaro syndrome	Associate	22929023	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	31773697	★★★★★ ★☆☆☆☆ Found in Text Mining only

SOX7 (SRY-box transcription factor 7)