Gene Gene information from NCBI Gene database.
Entrez ID 6664
Gene name SRY-box transcription factor 11
Gene symbol SOX11
Synonyms (NCBI Gene)
CSS9IDDMOHMRD27
Chromosome 2
Chromosome location 2p25.2
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
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs1057518187 C>A Pathogenic Coding sequence variant, stop gained
rs1057518282 GCGGCGGC>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1057518672 G>A Pathogenic Coding sequence variant, stop gained
rs1553327863 A>T Likely-pathogenic Stop gained, coding sequence variant
rs1553327954 C>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
540
miRTarBase ID miRNA Experiments Reference
MIRT019474 hsa-miR-148b-3p Microarray 17612493
MIRT022064 hsa-miR-128-3p Microarray 17612493
MIRT042780 hsa-miR-339-5p CLASH 23622248
MIRT053649 hsa-miR-145-5p Microarray 22942087
MIRT053725 hsa-miR-221-3p Microarray 22942087
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
96
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 19808959
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600898 11191 ENSG00000176887
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P35716
Protein name Transcription factor SOX-11
Protein function Transcription factor that acts as a transcriptional activator (PubMed:24886874, PubMed:26543203). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcriptional activation (By similarity). Acts as a transcr
PDB 6T78 , 6T7A , 6T7C , 6T7D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 49 117 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed primarily in the brain and heart, with low expression in the kidney, pancreas and muscle. {ECO:0000269|PubMed:24886874}.
Sequence
MVQQAESLEAESNLPREALDTEEGEFMACSPVALDESDPDWCKTASGHIKRPMNAFMVWS
KIERRKIMEQSPDMHNAEISKRLGKRWKMLKDSEKIPFIREAERLRLKHMADYPDYK
YRP
RKKPKMDPSAKPSASQSPEKSAAGGGGGSAGGGAGGAKTSKGSSKKCGKLKAPAAAGAKA
GAGKAAQSGDYGGAGDDYVLGSLRVSGSGGGGAGKTVKCVFLDEDDDDDDDDDELQLQIK
QEPDEEDEEPPHQQLLQPPGQQPSQLLRRYNVAKVPASPTLSSSAESPEGASLYDEVRAG
ATSGAGGGSRLYYSFKNITKQHPPPLAQPALSPASSRSVSTSSSSSSGSSSGSSGEDADD
LMFDLSLNFSQSAHSASEQQLGGGAAAGNLSLSLVDKDLDSFSEGSLGSHFEFPDYCTPE
LSEMIAGDWLEANFSDLVFTY
Sequence length 441
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
126
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Craniosynostosis syndrome Likely pathogenic rs2103276364 RCV001849680
Hypogonadotropic hypogonadism Pathogenic; Likely pathogenic rs1252447458, rs2465088616, rs2465087457, rs1064794628, rs2465087534 RCV004586392
RCV004586397
RCV004586398
RCV004586399
RCV004586400
Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism Likely pathogenic; Pathogenic rs780122780, rs2103276330, rs2103276338, rs1441654871, rs1553327809, rs2103276750, rs587777480, rs2103276337, rs2103276340, rs1064794702, rs2465087401, rs2465087380, rs2465087455, rs2103276364, rs1306957190
View all (25 more)
RCV001331021
RCV003150828
RCV003150829
RCV001775379
RCV001806379
RCV001823019
RCV000128429
RCV002249178
RCV002246735
RCV002283700
RCV002465425
RCV002468797
RCV002468798
RCV003150843
RCV003150852
RCV003150853
RCV003150854
RCV003150855
RCV003150856
RCV003150857
RCV003150858
RCV003150859
RCV003150860
RCV003150861
RCV003150862
RCV003150863
RCV003150865
RCV003150866
RCV003150869
RCV003150870
RCV003150872
RCV003150873
RCV003150874
RCV003150875
RCV003150876
RCV003223481
RCV003441166
RCV003484530
RCV004554975
RCV000414848
RCV003150820
RCV003224877
RCV000735210
RCV000760282
RCV000824995
RCV000995881
RCV001089956
RCV001251188
SOX11-related disorder Likely pathogenic rs1064794702, rs1215459755, rs2465087382 RCV004731258
RCV003894420
RCV003959061
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Coffin-Siris syndrome Conflicting classifications of pathogenicity rs749901648 RCV002466550
Pituitary stalk interruption syndrome Uncertain significance rs1388073236 RCV001257281
See cases Uncertain significance rs776676775 RCV002252458
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 methylcrotonyl CoA carboxylase 1 deficiency Associate 36745184
Adenocarcinoma Associate 29315911
Apraxia oculomotor Cogan type Associate 33785884
Asthma Associate 34995380
Astrocytoma Associate 23619925
Bone Marrow Diseases Stimulate 29771407
Breast Neoplasms Associate 25041022, 25880212, 26894864, 27857161, 32043610
Burkitt Lymphoma Associate 19880778, 19880779, 38620074
Carcinogenesis Associate 26578390
Carcinoid Tumor Associate 34996493