COL6A1 - New-wiki

Novel	Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
Novel	ALDH3A2	aldehyde dehydrogenase 3 family member A2	RND2 GTPase cycle RND1 GTPase cycle	NADH	Sjogren-Larsson syndrome
Novel	CFAP410	cilia and flagella associated protein 410
Novel	COL6A2	collagen type VI alpha 2 chain	Collagen degradation Collagen biosynthesis and modifying enzymes Signaling by PDGF Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions Collagen chain trimerization		Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
Novel	CSTB	cystatin B	Neutrophil degranulation	Cupric Chloride	Progressive myoclonic epilepsy (PME), including: Lafora disease (LBD); Unverricht-Lundborg disease (ULD); Neuronal ceroid lipofuscinoses (NCL); Type I sialidosis; Action myoclonus-renal failure syndrome (AMRF); Type III Gaucher disease (GD)
Novel	FAM3B	FAM3 metabolism regulating signaling molecule B
Novel	HCFC2	host cell factor C2	Formation of WDR5-containing histone-modifying complexes
Novel	LCMT2	leucine carboxyl methyltransferase 2	Synthesis of wybutosine at G37 of tRNA(Phe) Synthesis of wybutosine at G37 of tRNA(Phe)	Leucine
Novel	MLLT3	MLLT3 super elongation complex subunit	Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation
Novel	MPRIP	myosin phosphatase Rho interacting protein	Signaling by BRAF and RAF1 fusions
Novel	PCNT	pericentrin	Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2 Chaperone Mediated Autophagy Late endosomal microautophagy Aggrephagy Aggrephagy		Microcephalic osteodysplastic primordial dwarfism, type II (MOPD II) Seckel syndrome
Novel	PDK1	pyruvate dehydrogenase kinase 1	Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid Mitochondrial protein degradation	4-[(3-CHLORO-4-{[(2R)-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANOYL]AMINO}PHENYL)SULFONYL]-N,N-DIMETHYLBENZAMIDE Dichloroacetic acid
Novel	PEX26	peroxisomal biogenesis factor 26	Peroxisomal protein import Peroxisomal protein import Class I peroxisomal membrane protein import		Zellweger syndrome spectrum, including: Zellweger syndrome (ZS); Adrenoleukodystrophy, neonatal (NALD); Infantile Refsum disease (IRD)
Novel	PIGS	phosphatidylinositol glycan anchor biosynthesis class S	Attachment of GPI anchor to uPAR
Novel	RUNX1	RUNX family transcription factor 1	Pre-NOTCH Transcription and Translation SLC-mediated transport of organic cations RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs) RUNX1 regulates estrogen receptor mediated transcription Regulation of RUNX1 Expression and Activity Regulation of RUNX1 Expression and Activity RUNX1 regulates expression of components of tight junctions RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX1 regulates transcription of genes involved in differentiation of HSCs RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 regulates transcription of genes involved in differentiation of keratinocytes RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known RUNX1 regulates transcription of genes involved in BCR signaling RUNX1 regulates transcription of genes involved in differentiation of myeloid cells RUNX1 regulates transcription of genes involved in interleukin signaling RUNX1 regulates transcription of genes involved in WNT signaling RUNX2 regulates genes involved in differentiation of myeloid cells RUNX3 regulates p14-ARF Estrogen-dependent gene expression Transcriptional regulation of granulopoiesis SARS-CoV-1 activates/modulates innate immune responses Differentiation of naive CD+ T cells to T helper 1 cells (Th1 cells)		Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) Acute myeloid leukemia (AML) Chronic myeloid leukemia (CML) Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM)
	BGN	biglycan	Glycosaminoglycan-protein linkage region biosynthesis CS-GAG biosynthesis DS-GAG biosynthesis CS/DS degradation ECM proteoglycans ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective CHST14 causes EDS, musculocontractural type Defective CHSY1 causes TPBS Defective B3GALT6 causes EDSP2 and SEMDJL1
	COL18A1	collagen type XVIII alpha 1 chain	Collagen degradation Activation of Matrix Metalloproteinases Collagen biosynthesis and modifying enzymes Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Laminin interactions Collagen chain trimerization		Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC) Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
	COL2A1	collagen type II alpha 1 chain	Collagen degradation Collagen degradation Fibronectin matrix formation Collagen biosynthesis and modifying enzymes Signaling by PDGF Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell Assembly of collagen fibrils and other multimeric structures Integrin cell surface interactions Integrin cell surface interactions Non-integrin membrane-ECM interactions ECM proteoglycans ECM proteoglycans NCAM1 interactions MET activates PTK2 signaling Collagen chain trimerization Developmental Lineage of Pancreatic Ductal Cells	Collagenase clostridium histolyticum	Osteoarthritis with mild chondrodysplasia Vitreoretinal degeneration, including: Stickler syndrome type I (STL1); Stickler syndrome type II (STL2); Snowflake vitreoretinal degeneration (SVD); Wagner syndrome 1 (WGN1); Knobloch syndrome (KNO); Enhanced S-cone syndrome (ESCS); Autosomal dominant vitreoretinochoroidopathy (ADVIRC) Type II collagenopathies, including: Achondrogenesis II; Hypochondrogenesis; SED congenita; SMED Strudwick type; Kniest dysplasia; Spondyloperipheral dysplasia; Osteoarthritis with mild chondrodysplasia; Stickler syndrome 1; Platyspondylic skeletal dysplasia, Torrance type; Epiphyseal dysplasia, multiple, with myopia and deafness; Czech dysplasia
	DCN	decorin	Degradation of the extracellular matrix Glycosaminoglycan-protein linkage region biosynthesis CS-GAG biosynthesis DS-GAG biosynthesis CS/DS degradation ECM proteoglycans ECM proteoglycans Defective B4GALT7 causes EDS, progeroid type Defective B3GAT3 causes JDSSDHD Defective CHST3 causes SEDCJD Defective CHST14 causes EDS, musculocontractural type Defective CHSY1 causes TPBS Defective B3GALT6 causes EDSP2 and SEMDJL1		Congenital stromal corneal dystrophy (CSCD); Congenital hereditary stromal dystrophy; Witschel dystrophy
	DNAJB11	DnaJ heat shock protein family (Hsp40) member B11	XBP1(S) activates chaperone genes
	FGF7	fibroblast growth factor 7	PI3K Cascade PIP3 activates AKT signaling FGFR2b ligand binding and activation Activated point mutants of FGFR2 Constitutive Signaling by Aberrant PI3K in Cancer Phospholipase C-mediated cascade; FGFR2 PI-3K cascade:FGFR2 SHC-mediated cascade:FGFR2 FRS-mediated FGFR2 signaling Negative regulation of FGFR2 signaling Signaling by FGFR2 in disease RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling Developmental Lineage of Multipotent Pancreatic Progenitor Cells

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