IGKC - Wiki-MPM

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	CD40LG	CD40 ligand	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	Ruplizumab	Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
Novel	CFTR	CF transmembrane conductance regulator	ABC-family proteins mediated transport RHO GTPases regulate CFTR trafficking Defective CFTR causes cystic fibrosis Ub-specific processing proteases Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis RHOQ GTPase cycle Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy Developmental Lineage of Pancreatic Ductal Cells	ATP Bumetanide Glyburide Ibuprofen Genistein Colforsin Phosphoaminophosphonic Acid-Adenylate Ester Dexfosfoserine Crofelemer Lonidamine Ivacaftor Dexibuprofen Lumacaftor Tezacaftor Elexacaftor	Hereditary pancreatitis; Hereditary chronic pancreatitis Cystic fibrosis (CF) Congenital bilateral absence of vas deferens
Novel	IGHG1	immunoglobulin heavy constant gamma 1 (G1m marker)
Novel	MLH1	mutL homolog 1	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 TP53 Regulates Transcription of DNA Repair Genes Meiotic recombination		Ovarian cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome Colorectal cancer Endometrial Cancer
Novel	PLGLB2	plasminogen like B2
Novel	REG3A	regenerating family member 3 alpha	Antimicrobial peptides
Novel	SMARCD1	SWI/SNF related BAF chromatin remodeling complex subunit D1	RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the canonical BAF (cBAF) complex Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of the non-canonical BAF (ncBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)
	CD40LG	CD40 ligand	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell TNFR2 non-canonical NF-kB pathway TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	Ruplizumab	Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
	CFTR	CF transmembrane conductance regulator	ABC-family proteins mediated transport RHO GTPases regulate CFTR trafficking Defective CFTR causes cystic fibrosis Ub-specific processing proteases Cargo recognition for clathrin-mediated endocytosis Clathrin-mediated endocytosis RHOQ GTPase cycle Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy Developmental Lineage of Pancreatic Ductal Cells	ATP Bumetanide Glyburide Ibuprofen Genistein Colforsin Phosphoaminophosphonic Acid-Adenylate Ester Dexfosfoserine Crofelemer Lonidamine Ivacaftor Dexibuprofen Lumacaftor Tezacaftor Elexacaftor	Hereditary pancreatitis; Hereditary chronic pancreatitis Cystic fibrosis (CF) Congenital bilateral absence of vas deferens
	IGHG1	immunoglobulin heavy constant gamma 1 (G1m marker)
	MLH1	mutL homolog 1	Mismatch repair (MMR) directed by MSH2:MSH6 (MutSalpha) Mismatch repair (MMR) directed by MSH2:MSH3 (MutSbeta) Defective Mismatch Repair Associated With MLH1 Defective Mismatch Repair Associated With PMS2 TP53 Regulates Transcription of DNA Repair Genes Meiotic recombination		Ovarian cancer Mismatch repair deficiency, including: Hereditary non-polyposis colorectal cancer (HNPCC); Lynch syndrome; Muir-Torre syndrome; Turcot syndrome Colorectal cancer Endometrial Cancer
	PLGLB2	plasminogen like B2
	REG3A	regenerating family member 3 alpha	Antimicrobial peptides
	SMARCD1	SWI/SNF related BAF chromatin remodeling complex subunit D1	RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known Regulation of MITF-M-dependent genes involved in pigmentation Regulation of MITF-M-dependent genes involved in pigmentation Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs) Formation of the canonical BAF (cBAF) complex Formation of the polybromo-BAF (pBAF) complex Formation of the embryonic stem cell BAF (esBAF) complex Formation of the non-canonical BAF (ncBAF) complex Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF) Formation of neuronal progenitor and neuronal BAF (npBAF and nBAF)

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