Table 2.

Immune-related genes located on X chromosome in humans and their consensus call for escape from XCI.

Gene ID	Gene names	Consensus call	Encoded proteins and their known or potential importance in immune functions
64109	CRLF2	PAR	Receptor for stromal lymphopoietin. Together with interleukin 7 receptor, activates STAT3, STAT5, and JAK2 pathways.
1438	CSF2RA	PAR	The alpha subunit of the heterodimeric receptor for CSF2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages.
3563	IL3RA	PAR (Escape)	The alpha subunit of heterodimeric IL3, CSF2/GM-CSF, 3 and IL5.
286530	P2RY8	PAR	Belongs to the family of G-protein coupled receptors, preferentially activated by adenosine and uridine nucleotides. Broad expression in lymph node and spleen.
8227	AKAP17A	PAR (Escape)	A protein kinase A anchoring protein. A part of spliceosome complex, ubiquitous expression in spleen and bone marrow.
401577	CD99P1	PAR (Escape)	CD99 molecule pseudogene 1, ubiquitous expression in bone marrow.
4267	CD99	PAR	A cell surface glycoprotein involved in leukocyte migration, T-cell adhesion, ganglioside GM1 and transmembrane protein transport, and T-cell death by a caspase-independent pathway.
51284	TLR7	Subject to	A fundamental role in pathogen recognition and activation of innate immunity.
51311	TLR8	No call	A fundamental role in pathogen recognition and activation of innate immunity.
7114	TMSB4X	No call	Role in cell proliferation, migration, and differentiation. Broad expression in spleen and lymph node.
5277	PIGA	Subject to	Required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor, a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface.
8233	ZRSR2	Escape from	An essential splicing factor, and may play a role in network interactions during spliceosome assembly. Ubiquitous expression in lymph node and spleen.
369	ARAF	Subject to	Belongs to the RAF subfamily of Ser/Thr protein kinase family and may be involved in cell growth and development. Ubiquitous expression in bone marrow and spleen.
5199	CFP	Subject to	A plasma glycoprotein that positively regulates the alternative complement pathway of the innate immune system. Biased expression in spleen and bone marrow.
7454	WAS	Variable escape	Expressed exclusively in hematopoietic cells and is involved in transduction of signals from receptors on the cell surface to the actin cytoskeleton.
50943	FOXP3	Subject to	A member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy and X-linked autoimmunity-autoimmune deficiency syndrome.
11326	VSIG4	No call	A receptor for the complement component 3 fragments C3b and iC3b and may be a negative regulator of T-cell responses.
3476	IGBP1	Mostly subject to	Proliferation and differentiation of B cells.
3561	IL2RG	No call	An important signaling component of many IL receptors. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID).
8473	OGT	Mostly subject to	A glycosyltransferase that catalyzes the addition of a single N-acetylglucosamine in O-glycosidic linkage to serine or threonine residues. Ubiquitous expression in lymph node and spleen.
2833	CXCR3	Subject to	A G protein-coupled receptor with selectivity for three chemokines, termed CXCL9/Mig, CXCL10/IP10 and CXCL11/I-TAC. Binding of chemokines to this protein induces cellular responses that are involved in leukocyte traffic, most notably integrin activation, cytoskeletal changes and chemotactic migration.
695	BTK	Subject to	A crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement.
3597	IL13RA1	Mostly subject to	Serves as a primary IL13-binding subunit of the IL13 receptor, and may also be a component of IL4 receptors. Binds to TYK2, which lead to the activation JAk1, STST3 and STAT6 induced by IL13 and IL4.
4068	SH2D1A	Variable escape	Plays a major role in the bidirectional stimulation of T and B cells mediated through SH2 domain.
54440	SASH3	Subject to	May function as a signaling adapter protein in lymphocytes mediated through SH3 domain. Biased expression in lymph node and spleen.
2000	ELF4	Mostly subject to	A transcriptional activator involved in natural killer cell development and function, innate immunity, and induction of cell cycle arrest in naive CD8+ cells.
959	CD40LG	Variable escape	Expressed on the surface of T cells and regulates B cell function by engaging CD40 on the B cell surface.
139135	PASD1	No call	A cancer-associated antigen that can stimulate autologous T-cell responses. Considered to be a potential immunotherapeutic target for the treatment of various hematopoietic malignancies, including diffuse large B-cell lymphoma.
393	ARHGAP4	Discordant	A role in the regulation of small GTP-binding proteins belonging to the RAS superfamily. Biased expression in spleen and bone marrow.
3654	IRAK1	Mostly subject to	IL-1 receptor-associated kinase 1 partially responsible for IL1-induced upregulation of the transcription factor NF-kappa B.
8517	IKBKG	Mostly subject to	The regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways.
139716	GAB3	Subject to	Functions as scaffolding/docking proteins and involved in several growth factor and cytokine signaling pathways. Binds SHP2 tyrosine phosphatase and GRB2 adapter protein and facilitates macrophage differentiation.
100272147	MTCP1NB	No call	Involvement in some t(X;14) translocations associated with mature T-cell proliferations.
4515	MTCP1	Subject to	Involvement in some t(X;14) translocations associated with mature T-cell proliferations. May be involved in leukemogenesis.
3581	IL9R	Subject to	Mediates the biological effects of IL9. The ligand binding of this receptor leads to the activation of various JAK kinases and STAT proteins.

PAR: pseudoautosomal regions.