SOX14 (SRY-box transcription factor 14)

Gene

• Entrez ID: 8403
• Gene name: SRY-box transcription factor 14
• Gene symbol: SOX14
• Synonyms (NCBI Gene): SOX28
• Chromosome: 3
• Chromosome location: 3q22.3
• Summary: This intronless 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 regulato

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1380386	hsa-miR-4492	CLIP-seq
MIRT1380387	hsa-miR-4498	CLIP-seq
MIRT1380388	hsa-miR-4505	CLIP-seq
MIRT1380389	hsa-miR-4688	CLIP-seq
MIRT1380390	hsa-miR-4731-5p	CLIP-seq
MIRT1380391	hsa-miR-486-3p	CLIP-seq
MIRT1380392	hsa-miR-637	CLIP-seq
MIRT1380393	hsa-miR-762	CLIP-seq
MIRT2336840	hsa-miR-186	CLIP-seq
MIRT2336841	hsa-miR-3133	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
FOXA2	Activation	20074681

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	ISS
GO:0000785	Component	Chromatin	ISA
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:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005667	Component	Transcription regulator complex	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0007399	Process	Nervous system development	TAS	9925951
GO:0007420	Process	Brain development	IBA
GO:0007601	Process	Visual perception	IEA
GO:0009649	Process	Entrainment of circadian clock	IEA
GO:0030182	Process	Neuron differentiation	IBA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2001222	Process	Regulation of neuron migration	IEA

Other IDs

• MIM: 604747
• HGNC: 11193
• e!Ensembl: ENSG00000168875

Protein

• UniProt ID: O95416
• Protein name: Transcription factor SOX-14 (Protein SOX-28)
• Protein function: Acts as a negative regulator of transcription.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	8 → 76	HMG (high mobility group) box	Domain
  PF12336	SOXp	77 → 206	SOX transcription factor	Family

• Sequence:

  MSKPSDHIKRPMNAFMVWSRGQRRKMAQENPKMHNSEISKRLGAEWKLLSEAEKRPYIDE
  AKRLRAQHMKEHPDYKYRPRRKPKNLLKKDRYVFPLPYLGDTDPLKAAGLPVGASDGLLS
  APEKARAFLPPASAPYSLLDPAQFSSSAIQKMGEVPHTLATGALPYASTLGYQNGAFGSL
  SCPSQHTHTHPSPTNPGYVVPCNCTAWSASTLQPPVAYILFPGMTKTGIDPYSSAHATAM
  

• Sequence length: 240

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
Anophthalmia-microphthalmia syndrome	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Blepharophimosis	Blepharophimosis	BEFREE	10798354		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	23478628, 27738327, 34098886	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	36672963	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	27738327		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	27738327, 28926586		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30935961	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28926586		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	27738327		★☆☆☆☆ Found in Text Mining only
Mobius Syndrome	Mobius Syndrome	BEFREE	10798354, 9925951		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28926586		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37378426	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	23478628		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23478628, 25973056, 27738327, 28926586, 34098886	Associate	★☆☆☆☆ Found in Text Mining only