SOX4 (SRY-box transcription factor 4)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6659
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX4
Synonyms (NCBI Gene) Gene synonyms aliases
CSS10, EVI16, IDDSDF
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p22.3
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs1334099693 C>A,T Likely-pathogenic, pathogenic Missense variant, coding sequence variant, synonymous variant
rs1464282327 G>A,C Pathogenic Coding sequence variant, missense variant
rs1582601669 T>G Pathogenic Missense variant, coding sequence variant
rs1582601747 G>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2272)
miRTarBase ID miRNA Experiments Reference
MIRT002431 hsa-miR-335-5p Review 19935707
MIRT004043 hsa-miR-129-5p Review 20026422
MIRT004691 hsa-miR-191-5p Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR 20924108
MIRT004043 hsa-miR-129-5p In situ hybridization, Microarray, qRT-PCR 19487295
MIRT004043 hsa-miR-129-5p In situ hybridization, Microarray, qRT-PCR 19487295
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(2)
Transcription factor Regulation Reference
ERG Unknown 24435928
JUND Activation 23482931
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(98)
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 IDA 26291311
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
184430 11200 ENSG00000124766
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q06945
Protein name Transcription factor SOX-4
Protein function Transcriptional activator that binds with high affinity to the T-cell enhancer motif 5'-AACAAAG-3' motif (PubMed:30661772). Required for IL17A-producing Vgamma2-positive gamma-delta T-cell maturation and development, via binding to regulator loc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 59 → 127 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Testis, brain, and heart. {ECO:0000269|PubMed:8268656}.
Sequence 
MVQQTNNAENTEALLAGESSDSGAGLELGIASSPTPGSTASTGGKADDPSWCKTPSGHIK
RPMNAFMVWSQIERRKIMEQSPDMHNAEISKRLGKRWKLLKDSDKIPFIREAERLRLKHM
ADYPDYKYRPRKKVKSGNANSSSSAAASSKPGEKGDKVGGSGGGGHGGGGGGGSSNAGGG
GGGASGGGANSKPAQKKSCGSKVAGGAGGGVSKPHAKLILAGGGGGGKAAAAAAASFAAE
QAGAAALLPLGAAADHHSLYKARTPSASASASSAASASAALAAPGKHLAEKKVKRVYLFG
GLGTSSSPVGGVGAGADPSDPLGLYEEEGAGCSPDAPSLSGRSSAASSPAAGRSPADHRG
YASLRAASPAPSSAPSHASSSASSHSSSSSSSGSSSSDDEFEDDLLDLNPSSNFESMSLG
SFSSSSALDRDLDFNFEPGSGSHFEFPDYCTPEVSEMISGDWLESSISNLVFTY
Sequence length 474
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  MicroRNAs in cancer   Deactivation of the beta-catenin transactivating complex
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Coffin-Siris Syndrome Coffin-Siris syndrome 10 rs1334099693, rs1464282327, rs1582601669, rs1582601747 N/A
Mental retardation Intellectual disability, mild rs1334099693 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Atrial Fibrillation atrial fibrillation N/A N/A GenCC
Show/Hide Text Mining Associations (94)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 25644061, 35328735
Adenocarcinoma of Lung Associate 29131257, 30840278
Arthritis Rheumatoid Stimulate 30232328
Astrocytoma Associate 23613880
Brain Neoplasms Associate 18577562
Breast Neoplasms Associate 22098624, 25592378, 27831649, 28176176, 28450532, 29684587, 34362391, 35112991
Carcinogenesis Inhibit 19234109
Carcinogenesis Associate 22510499, 24401325, 25059387, 26555193, 29693704, 31268162
Carcinogenesis Stimulate 30137431
Carcinoma Adenoid Cystic Associate 12368205