Gene Gene information from NCBI Gene database.
Entrez ID 6778
Gene name Signal transducer and activator of transcription 6
Gene symbol STAT6
Synonyms (NCBI Gene)
D12S1644HIES6IL-4-STATSTAT6BSTAT6C
Chromosome 12
Chromosome location 12q13.3
Summary The protein encoded by this gene is a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that tran
miRNA miRNA information provided by mirtarbase database.
128
miRTarBase ID miRNA Experiments Reference
MIRT017016 hsa-miR-335-5p Microarray 18185580
MIRT028991 hsa-miR-26b-5p Microarray 19088304
MIRT052974 hsa-miR-135a-5p Luciferase reporter assayqRT-PCRWestern blot 22139076
MIRT437351 hsa-miR-361-5p Luciferase reporter assayqRT-PCRWestern blot 24491557
MIRT439116 hsa-miR-10b-5p 3'LIFE 25074381
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HDAC9 Repression 21106524
SFPQ Repression 21106524
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
64
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IEA
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 8810328
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601512 11368 ENSG00000166888
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P42226
Protein name Signal transducer and activator of transcription 6 (IL-4 Stat)
Protein function Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling.
PDB 1OJ5 , 4Y5U , 4Y5W , 5D39 , 5NWM , 5NWX , 9BIG
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02865 STAT_int 2 114 STAT protein, protein interaction domain Domain
PF01017 STAT_alpha 161 268 STAT protein, all-alpha domain Family
PF02864 STAT_bind 277 413 STAT protein, DNA binding domain Domain
PF00017 SH2 537 616 SH2 domain Domain
PF14596 STAT6_C 655 847 STAT6 C-terminal Family
Sequence
MSLWGLVSKMPPEKVQRLYVDFPQHLRHLLGDWLESQPWEFLVGSDAFCCNLASALLSDT
VQHLQASVGEQGEGSTILQHISTLESIYQRDPLKLVATFRQILQGEKKAVMEQF
RHLPMP
FHWKQEELKFKTGLRRLQHRVGEIHLLREALQKGAEAGQVSLHSLIETPANGTGPSEALA
MLLQETTGELEAAKALVLKRIQIWKRQQQLAGNGAPFEESLAPLQERCESLVDIYSQLQQ
EVGAAGGELEPKTRASLTGRLDEVLRTL
VTSCFLVEKQPPQVLKTQTKFQAGVRFLLGLR
FLGAPAKPPLVRADMVTEKQARELSVPQGPGAGAESTGEIINNTVPLENSIPGNCCSALF
KNLLLKKIKRCERKGTESVTEEKCAVLFSASFTLGPGKLPIQLQALSLPLVVI
VHGNQDN
NAKATILWDNAFSEMDRVPFVVAERVPWEKMCETLNLKFMAEVGTNRGLLPEHFLFLAQK
IFNDNSLSMEAFQHRSVSWSQFNKEILLGRGFTFWQWFDGVLDLTKRCLRSYWSDRLIIG
FISKQYVTSLLLNEPDGTFLLRFSDSEIGGITIAHVIRGQDGSPQIENIQPFSAKDLSIR
SLGDRIRDLAQLKNLY
PKKPKDEAFRSHYKPEQMGKDGRGYVPATIKMTVERDQPLPTPE
LQMPTMVPSYDLGMAPDSSMSMQLGPDMVPQVYPPHSHSIPPYQGLSPEESVNVLSAFQE
PHLQMPPSLGQMSLPFDQPHPQGLLPCQPQEHAVSSPDPLLCSDVTMVEDSCLSQPVTAF
PQGTWIGEDIFPPLLPPTEQDLTKLLLEGQGESGGGSLGAQPLLQPSHYGQSGISMSHMD
LRANPSW
Sequence length 847
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
JAK-STAT signaling pathway
Th1 and Th2 cell differentiation
Th17 cell differentiation
Hepatitis B
Pathways in cancer
Inflammatory bowel disease
  Downstream signal transduction
STAT6-mediated induction of chemokines
Interleukin-4 and Interleukin-13 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections Pathogenic; Likely pathogenic rs2548025666, rs11172102, rs2548028819, rs2548019791, rs2548028861 RCV003333716
RCV003333717
RCV003333718
RCV003333719
RCV003333720
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm Likely pathogenic rs11172102 RCV004673874
★★★★☆
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
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA 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
Adenocarcinoma Adenocarcinoma LHGDN 14634100
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 31075146
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 31497205, 31798581
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 28654863
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 11781246, 17652621, 21418178, 26811457, 31822802
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20608912, 29752758, 30665041
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization GWASDB_DG 23817571
★☆☆☆☆
Found in Text Mining only
Alveolitis, Fibrosing Alveolitis CTD_human_DG 26699812
★☆☆☆☆
Found in Text Mining only
Anaphylaxis Anaphylaxis Pubtator 36884218, 37316763 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 30010060
★☆☆☆☆
Found in Text Mining only