Gene Gene information from NCBI Gene database.
Entrez ID 6666
Gene name SRY-box transcription factor 12
Gene symbol SOX12
Synonyms (NCBI Gene)
SOX22
Chromosome 20
Chromosome location 20p13
Summary Members of the SOX family of transcription factors are characterized by the presence of a DNA-binding high mobility group (HMG) domain, homologous to the HMG box of sex-determining region Y (SRY). Forming a subgroup of the HMG domain superfamily, SOX prot
miRNA miRNA information provided by mirtarbase database.
554
miRTarBase ID miRNA Experiments Reference
MIRT053736 hsa-miR-1268a Microarray 22942087
MIRT053744 hsa-miR-29b-3p Microarray 22942087
MIRT686806 hsa-miR-18a-5p HITS-CLIP 23313552
MIRT686805 hsa-miR-18b-5p HITS-CLIP 23313552
MIRT686804 hsa-miR-4735-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding ISS
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601947 11198 ENSG00000177732
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O15370
Protein name Transcription factor SOX-12 (Protein SOX-22)
Protein function Transcription factor that binds to DNA at the consensus sequence 5'-ACCAAAG-3' (By similarity). Acts as a transcriptional activator (By similarity). Binds cooperatively with POU3F2/BRN2 or POU3F1/OCT6 to gene promoters, which enhances transcript
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00505 HMG_box 40 108 HMG (high mobility group) box Domain
Tissue specificity TISSUE SPECIFICITY: Expressed most abundantly in the CNS (PubMed:9215677). Expressed in the heart, pancreas, thymus, testis and ovary (PubMed:9215677). Weakly expressed in brain, placenta, lung, liver, skeletal muscle, kidney, spleen, prostate, small inte
Sequence
MVQQRGARAKRDGGPPPPGPGPAEEGAREPGWCKTPSGHIKRPMNAFMVWSQHERRKIMD
QWPDMHNAEISKRLGRRWQLLQDSEKIPFVREAERLRLKHMADYPDYK
YRPRKKSKGAPA
KARPRPPGGSGGGSRLKPGPQLPGRGGRRAAGGPLGGGAAAPEDDDEDDDEELLEVRLVE
TPGRELWRMVPAGRAARGQAERAQGPSGEGAAAAAAASPTPSEDEEPEEEEEEAAAAEEG
EEETVASGEESLGFLSRLPPGPAGLDCSALDRDPDLQPPSGTSHFEFPDYCTPEVTEMIA
GDWRPSSIADLVFTY
Sequence length 315
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 31311830
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 31311830 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 28975985, 35465267, 35485164 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28979676
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 34868396 Associate
★☆☆☆☆
Found in Text Mining only
Clear-cell metastatic renal cell carcinoma Renal Carcinoma BEFREE 29541226
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 30190287
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 24920608
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 30858360
★☆☆☆☆
Found in Text Mining only
Congenital Heart Defects Congenital heart defects BEFREE 19651233
★☆☆☆☆
Found in Text Mining only