SOX5 (SRY-box transcription factor 5)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 6660
Gene name SRY-box transcription factor 5
Gene symbol SOX5
Synonyms (NCBI Gene)
L-SOX5L-SOX5BL-SOX5FLAMSHF
Chromosome 12
Chromosome location 12p12.1
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
SNPs SNP information provided by dbSNP.
22
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
SNP ID Visualize variation Clinical significance Consequence
rs767241917 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained, genic upstream transcript variant
rs773832380 C>A,T Likely-pathogenic Genic downstream transcript variant, missense variant, coding sequence variant
rs869025321 C>A Pathogenic Coding sequence variant, genic upstream transcript variant, stop gained
rs869312867 G>C Likely-pathogenic Coding sequence variant, genic downstream transcript variant, missense variant
rs895607185 G>A Pathogenic Stop gained, downstream transcript variant, coding sequence variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
233
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (233)
miRTarBase ID miRNA Experiments Reference
MIRT000960 hsa-miR-21-5p Western blotNorthern blot 19013014
MIRT000960 hsa-miR-21-5p qRT-PCR 19013014
MIRT000960 hsa-miR-21-5p Luciferase reporter assay 19013014
MIRT006327 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 22396742
MIRT006327 hsa-miR-194-5p Luciferase reporter assayqRT-PCRWestern blot 22396742
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 26525805
GO:0000976 Function Transcription cis-regulatory region binding IEA
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 IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
604975 11201 ENSG00000134532
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35711
Protein name Transcription factor SOX-5
Protein function Transcription factor involved in chondrocytes differentiation and cartilage formation. Specifically binds the 5'-AACAAT-3' DNA motif present in enhancers and super-enhancers and promotes expression of genes important for chondrogenesis, includin
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 556 → 624 HMG (high mobility group) box Domain
Sequence 
MLTDPDLPQEFERMSSKRPASPYGEADGEVAMVTSRQKVEEEESDGLPAFHLPLHVSFPN
KPHSEEFQPVSLLTQETCGHRTPTSQHNTMEVDGNKVMSSFAPHNSSTSPQKAEEGGRQS
GESLSSTALGTPERRKGSLADVVDTLKQRKMEELIKNEPEETPSIEKLLSKDWKDKLLAM
GSGNFGEIKGTPESLAEKERQLMGMINQLTSLREQLLAAHDEQKKLAASQIEKQRQQMEL
AKQQQEQIARQQQQLLQQQHKINLLQQQIQVQGQLPPLMIPVFPPDQRTLAAAAQQGFLL
PPGFSYKAGCSDPYPVQLIPTTMAAAAAATPGLGPLQLQQLYAAQLAAMQVSPGGKLPGI
PQGNLGAAVSPTSIHTDKSTNSPPPKSKDEVAQPLNLSAKPKTSDGKSPTSPTSPHMPAL
RINSGAGPLKASVPAALASPSARVSTIGYLNDHDAVTKAIQEARQMKEQLRREQQVLDGK
VAVVNSLGLNNCRTEKEKTTLESLTQQLAVKQNEEGKFSHAMMDFNLSGDSDGSAGVSES
RIYRESRGRGSNEPHIKRPMNAFMVWAKDERRKILQAFPDMHNSNISKILGSRWKAMTNL
EKQPYYEEQARLSKQHLEKYPDYKYKPRPKRTCLVDGKKLRIGEYKAIMRNRRQEMRQYF
NVGQQAQIPIATAGVVYPGAIAMAGMPSPHLPSEHSSVSSSPEPGMPVIQSTYGVKGEEP
HIKEEIQAEDINGEIYDEYDEEEDDPDVDYGSDSENHIAGQAN
Sequence length 763
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
124
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (11)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Aplasia/Hypoplasia of the nails Likely pathogenic rs1057518845 RCV000414904
Central hypotonia Likely pathogenic rs1057518845 RCV000414904
Cerebral visual impairment and intellectual disability Likely pathogenic rs869312867 RCV000210408
Epileptic encephalopathy Likely pathogenic rs1057518928 RCV000414883
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autism spectrum disorder Likely benign rs1942477045 RCV003128006
Developmental disorder Likely benign rs2140999106 RCV001843719
Germ cell tumor of testis Benign rs79989573 RCV005931113
Malignant tumor of urinary bladder Benign rs138876515 RCV005906219
Show/Hide Text Mining Associations (50)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 29424904, 32678069
Asthma Associate 24876173
Atrial Fibrillation Associate 20062060, 25015694, 33350184
Atrial Fibrillation Inhibit 34833481
Azoospermia Associate 24303009, 32815100
Azoospermia Nonobstructive Associate 30863997
Brain Neoplasms Associate 22688887
Calcinosis Cutis Stimulate 26927636
Carcinoma Hepatocellular Associate 35048790
Carcinoma Non Small Cell Lung Associate 31917898