Hyper-IgE recurrent infection syndrome

Gene Information

Names

HUGO name: TYK2

HUGO name: STAT3

Localization

Reference sequences

Reference sequences

Chromosomal location

Chromosomal location

Maps

Maps

Protein Information

Description

Protein function:

Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain

Catalytic activity:

ATP + a [protein]-l-tyrosine = ADP + a [protein]-l-tyrosine phosphate

Tissue specificity:

Observed in all cell lines analyzed. Expressed in a variety of lymphoid and non-lymphoid cell lines

Similarity:

Belongs to the protein kinase superfamily. Tyr protein kinase family. Jak subfamily

Protein function:

Transcription factor that binds to the interleukin-6 (il-6)-responsive elements identified in the promoters of various acute-phase protein genes. Activated by il31 through il31ra

Subunit:

Forms a homodimer or a heterodimer with a related family member (at least stat1). Interacts with ncoa1, pelp1, socs7 and statip1. Interacts with hcv core protein. Interacts with il23r in presence of il23. Interacts with il31ra

Subcellular location:

Cytoplasm. Nucleus. Note=translocated into the nucleus in response to phosphorylation

Post-translational modification:

Tyrosine phosphorylated in response to il-6, il-11, cntf, lif, csf-1, egf, pdgf, ifn-alpha and osm. Phosphorylated on serine upon dna damage, probably by atm or atr. Serine phosphorylation is important for the formation of stable dna-binding stat3 homodimers and maximal transcriptional activity

Alternative products:

Event=alternative splicing; named isoforms=2; name=1; isoid=p40763-1; sequence=displayed; name=del-701; isoid=p40763-2; sequence=vsp_010474;

Miscellaneous:

Involved in the gp130-mediated signaling pathway

Tissue specificity:

Heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas

Similarity:

Belongs to the transcription factor stat family

Structures (PDB)

Expression

Expression pattern for human

Tissue Expression (%) Clones
9591
9591
Tissue Expression (%) Clones
mouth 12.35 49:42918
trachea 7.21 34:51029
dorsal_root_ganglion 6.43 5:8404
spleen 5.97 27:48893
nerve 4.15 6:15651
thymus 3.84 27:76036
rectum 3.65 2:5929
salivary_gland 3.38 6:19187
thyroid 3.37 3:9629
tonsil 3.06 5:17653
mouth 12.35 49:42918
trachea 7.21 34:51029
dorsal_root_ganglion 6.43 5:8404
spleen 5.97 27:48893
nerve 4.15 6:15651
thymus 3.84 27:76036
rectum 3.65 2:5929
salivary_gland 3.38 6:19187
thyroid 3.37 3:9629
tonsil 3.06 5:17653

Animal models

Mouse

Mouse