SOX30 (SRY-box transcription factor 30)

Gene

• Entrez ID: 11063
• Gene name: SRY-box transcription factor 30
• Gene symbol: SOX30
• Synonyms (NCBI Gene): -
• Chromosome: 5
• Chromosome location: 5q33.3
• 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 acts as a transcriptional regulator when present

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs377581367	G>A,C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT621042	hsa-miR-645	HITS-CLIP	23824327
MIRT621041	hsa-miR-3119	HITS-CLIP	23824327
MIRT734452	hsa-miR-653-5p	Luciferase reporter assay, qRT-PCR, Western blotting	31889959
MIRT621042	hsa-miR-645	HITS-CLIP	23824327
MIRT621041	hsa-miR-3119	HITS-CLIP	23824327
MIRT1380439	hsa-miR-3653	CLIP-seq
MIRT1380440	hsa-miR-3658	CLIP-seq
MIRT1380441	hsa-miR-3185	CLIP-seq
MIRT1380442	hsa-miR-4726-3p	CLIP-seq
MIRT1380443	hsa-miR-764	CLIP-seq
MIRT2630387	hsa-miR-4762-5p	CLIP-seq
MIRT2630388	hsa-miR-4764-3p	CLIP-seq
MIRT2630387	hsa-miR-4762-5p	CLIP-seq
MIRT2630388	hsa-miR-4764-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
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	IDA	10359848
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	ISA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	10359848
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	21516116, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10359848, 29739711
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	29739711
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10359848
GO:0007286	Process	Spermatid development	IEA
GO:0007286	Process	Spermatid development	ISS
GO:0008013	Function	Beta-catenin binding	IPI	29739711
GO:0010369	Component	Chromocenter	IEA
GO:0010369	Component	Chromocenter	ISS
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IMP	29739711
GO:0031960	Process	Response to corticosteroid	IEP	18436822
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0120211	Process	Proacrosomal vesicle fusion	IEA
GO:0120211	Process	Proacrosomal vesicle fusion	ISS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 606698
• HGNC: 30635
• e!Ensembl: ENSG00000039600

Protein

• UniProt ID: O94993
• Protein name: Transcription factor SOX-30
• Protein function: Acts both as a transcriptional activator and a repressor (PubMed:10359848, PubMed:29739711). Binds to the DNA sequence 5'-ACAAT-3' and shows a preference for guanine residues surrounding this core motif (PubMed:10359848). Binds to its own promot
• PDB: 7JJK
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00505	HMG_box	337 → 405	HMG (high mobility group) box	Domain

• Sequence:

  MERARPEPPPQPRPLRPAPPPLPVEGTSFWAAAMEPPPSSPTLSAAASATLASSCGEAVA
  SGLQPAVRRLLQVKPEQVLLLPQPQAQNEEAAASSAQARLLQFRPDLRLLQPPTASDGAT
  SRPELHPVQPLALHVKAKKQKLGPSLDQSVGPRGAVETGPRASRVVKLEGPGPALGYFRG
  DEKGKLEAEEVMRDSMQGGAGKSPAAIREGVIKTEEPERLLEDCRLGAEPASNGLVHGSA
  EVILAPTSGAFGPHQQDLRIPLTLHTVPPGARIQFQGAPPSELIRLTKVPLTPVPTKMQS
  LLEPSVKIETKDVPLTVLPSDAGIPDTPFSKDRNGHVKRPMNAFMVWARIHRPALAKANP
  AANNAEISVQLGLEWNKLSEEQKKPYYDEAQKIKEKHREEFPGWVYQPRPGKRKRFPLSV
  SNVFSGTTQNIISTNPTTVYPYRSPTYSVVIPSLQNPITHPVGETSPAIQLPTPAVQSPS
  PVTLFQPSVSSAAQVAVQDPSLPVYPALPPQRFTGPSQTDTHQLHSEATHTVKQPTPVSL
  ESANRISSSASTAHARFATSTIQPPREYSSVSPCPRSAPIPQASPIPHPHVYQPPPLGHP
  ATLFGTPPRFSFHHPYFLPGPHYFPSSTCPYSRPPFGYGNFPSSMPECLSYYEDRYPKHE
  GIFSTLNRDYSFRDYSSECTHSENSRSCENMNGTSYYNSHSHSGEENLNPVPQLDIGTLE
  NVFTAPTSTPSSIQQVNVTDSDEEEEEKVLRDL

• Sequence length: 753

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Male infertility	Likely pathogenic	rs377581367	RCV001003516

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
See cases	Uncertain significance	rs2479978148	RCV003315280

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	26330328, 30514297
Adenocarcinoma of Lung	Associate	26330328, 30514297
Breast Neoplasms	Associate	32157740
Carcinoma Non Small Cell Lung	Associate	26330328, 30514297
Carcinoma Non Small Cell Lung	Inhibit	32443323
Leukemia Myeloid Acute	Associate	30002740
Lung Neoplasms	Associate	25435374, 26330328
Lymphatic Metastasis	Associate	29880037, 32157740, 32443323
Lymphoma	Associate	30358229
Neoplasm Metastasis	Inhibit	30514297
Neoplasms	Inhibit	25435374, 29880037, 30514297, 32157740
Neoplasms	Associate	30358229, 31889959, 32443323
Prostatic Neoplasms	Inhibit	31889959
Urinary Bladder Neoplasms	Associate	29880037