Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6664
Gene name Gene Name - the full gene name approved by the HGNC.
SRY-box transcription factor 11
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOX11
Synonyms (NCBI Gene) Gene synonyms aliases
CSS9, IDDMOH, MRD27
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IDDMOH
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.2
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 19808959
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600898 11191 ENSG00000176887
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 16762588
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Cataract Cataract rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322
View all (150 more)
Coffin-siris syndrome Coffin-Siris syndrome rs797045262, rs387906846, rs387906857, rs387907140, rs876657379, rs387907141, rs876657380, rs748363079, rs387907142, rs876657381, rs387907143, rs387907144, rs876657382, rs786205584, rs794727977
View all (131 more)
24886874
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Hypogonadotropic Hypogonadism intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism GenCC
Coffin-Siris Syndrome Coffin-Siris syndrome GenCC
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
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