SOX15 (SRY-box transcription factor 15)

Gene

• Entrez ID: 6665
• Gene name: SRY-box transcription factor 15
• Gene symbol: SOX15
• Synonyms (NCBI Gene): SOX20, SOX26, SOX27
• Chromosome: 17
• Chromosome location: 17p13.1
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT2336842	hsa-miR-1323	CLIP-seq
MIRT2336843	hsa-miR-200b	CLIP-seq
MIRT2336844	hsa-miR-200c	CLIP-seq
MIRT2336845	hsa-miR-374c	CLIP-seq
MIRT2336846	hsa-miR-429	CLIP-seq
MIRT2336847	hsa-miR-452	CLIP-seq
MIRT2336848	hsa-miR-4676-3p	CLIP-seq
MIRT2336849	hsa-miR-548a-3p	CLIP-seq
MIRT2336850	hsa-miR-548e	CLIP-seq
MIRT2336851	hsa-miR-548f	CLIP-seq
MIRT2336852	hsa-miR-548g	CLIP-seq
MIRT2336853	hsa-miR-548o	CLIP-seq
MIRT2336854	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	17363903
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: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:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	8332506
GO:0003682	Function	Chromatin binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	8332506
GO:0005515	Function	Protein binding	IPI	25416956
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	NAS	8332506
GO:0005667	Component	Transcription regulator complex	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006325	Process	Chromatin organization	NAS	8332506
GO:0006355	Process	Regulation of DNA-templated transcription	NAS	8332506
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	9540826
GO:0007420	Process	Brain development	IBA
GO:0008584	Process	Male gonad development	TAS	9540826
GO:0014718	Process	Positive regulation of satellite cell activation involved in skeletal muscle regeneration	IEA
GO:0014718	Process	Positive regulation of satellite cell activation involved in skeletal muscle regeneration	ISS	17363903
GO:0030154	Process	Cell differentiation	IEA
GO:0030154	Process	Cell differentiation	ISS	16759287
GO:0030182	Process	Neuron differentiation	IBA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0045843	Process	Negative regulation of striated muscle tissue development	IEA
GO:0045843	Process	Negative regulation of striated muscle tissue development	ISS	10821863
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	17363903
GO:0048627	Process	Myoblast development	IEA
GO:0048627	Process	Myoblast development	ISS	15367664
GO:0060707	Process	Trophoblast giant cell differentiation	IEA
GO:0060707	Process	Trophoblast giant cell differentiation	ISS
GO:0070318	Process	Positive regulation of G0 to G1 transition	IEA
GO:0070318	Process	Positive regulation of G0 to G1 transition	ISS	17363903
GO:2000288	Process	Positive regulation of myoblast proliferation	IEA
GO:2000288	Process	Positive regulation of myoblast proliferation	ISS	17363903

Other IDs

• MIM: 601297
• HGNC: 11196
• e!Ensembl: ENSG00000129194

Protein

• UniProt ID: O60248
• Protein name: Transcription factor SOX-15 (Protein SOX-12) (Protein SOX-20) (SRY-box transcription factor 15)
• Protein function: Transcription factor that binds to DNA at the 5'-AACAATG-3' consensus sequence (By similarity). Acts as a transcriptional activator and repressor (By similarity). Binds synergistically with POU5F1 (OCT3/4) to gene promoters (By similarity). Bind
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	49 → 117	HMG (high mobility group) box	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed in fetal and adult tissues examined, highest level found in fetal spinal cord and adult brain and testis. {ECO:0000269|PubMed:8978787, ECO:0000269|PubMed:9880678}.
• Sequence:

  MALPGSSQDQAWSLEPPAATAAASSSSGPQEREGAGSPAAPGTLPLEKVKRPMNAFMVWS
  SAQRRQMAQQNPKMHNSEISKRLGAQWKLLDEDEKRPFVEEAKRLRARHLRDYPDYKYRP
  RRKAKSSGAGPSRCGQGRGNLASGGPLWGPGYATTQPSRGFGYRPPSYSTAYLPGSYGSS
  HCKLEAPSPCSLPQSDPRLQGELLPTYTHYLPPGSPTPYNPPLAGAPMPLTHL

• Sequence length: 233

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Campomelic Dysplasia	Campomelic dysplasia	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Embryonal	Embryonal carcinoma	Pubtator	18182846	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26122848		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30019915		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	27881125, 28821564, 30935961	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	27881125		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	27881125	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36446526	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28092101		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26122848		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23318427		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31029062		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23318427, 28092101		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	23318427, 30019915, 30950353, 31760045		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23318427		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	BEFREE	23318427		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	31029062		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	35922412	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30950353		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular germ cell tumor	Pubtator	23300844	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	34603557	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31760045		★☆☆☆☆ Found in Text Mining only