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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	11063
Gene name Gene Name - the full gene name approved by the HGNC.	SRY-box transcription factor 30
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SOX30
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q33.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(1)

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

Show/Hide all(14)

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

Show/Hide all(36)

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

MIM	HGNC	e!Ensembl
606698	30635	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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
male infertility	Male infertility	rs377581367	N/A

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

SOX30 (SRY-box transcription factor 30)