COL6A1 - Wiki-CORONA

Interactant Symbol	Name	Associated Pathways Hide	Binding Drugs Hide	Associated Diseases Hide
ALDH3A2	aldehyde dehydrogenase 3 family member A2		NADH	Sjogren-Larsson syndrome
CFAP410	cilia and flagella associated protein 410
COL2A1	collagen type II alpha 1 chain	Collagen degradation Collagen degradation Extracellular matrix organization 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	Collagenase clostridium histolyticum	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 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) Osteoarthritis with mild chondrodysplasia
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
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)
DCN	decorin	Degradation of the extracellular matrix A tetrasaccharide linker sequence is required for GAG synthesis Chondroitin sulfate biosynthesis Dermatan sulfate 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	Tromethamine	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
FAM3B	FAM3 metabolism regulating signaling molecule B
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
HCFC2	host cell factor C2
LAMB1	laminin subunit beta 1	Degradation of the extracellular matrix Laminin interactions Laminin interactions Non-integrin membrane-ECM interactions ECM proteoglycans L1CAM interactions Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) MET activates PTK2 signaling Post-translational protein phosphorylation EGR2 and SOX10-mediated initiation of Schwann cell myelination
LCMT2	leucine carboxyl methyltransferase 2	Synthesis of wybutosine at G37 of tRNA(Phe) Synthesis of wybutosine at G37 of tRNA(Phe)	L-Leucine
LGALS3BP	galectin 3 binding protein	Platelet degranulation
MAG	myelin associated glycoprotein	Axonal growth inhibition (RHOA activation) Basigin interactions EGR2 and SOX10-mediated initiation of Schwann cell myelination
MLLT3	MLLT3 super elongation complex subunit	Formation of RNA Pol II elongation complex RNA Polymerase II Pre-transcription Events RNA Polymerase II Transcription Elongation
MPRIP	myosin phosphatase Rho interacting protein	Signaling by BRAF and RAF fusions
MTDH	metadherin
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
PDGFA	platelet derived growth factor subunit A	Non-integrin membrane-ECM interactions		Malignant pleural mesothelioma Glioma
PDGFB	platelet derived growth factor subunit B	Platelet degranulation PIP3 activates AKT signaling Downstream signal transduction Signaling by PDGF Constitutive Signaling by Aberrant PI3K in Cancer Non-integrin membrane-ECM interactions RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling		Malignant pleural mesothelioma Glioma
PDK1	pyruvate dehydrogenase kinase 1	Regulation of pyruvate dehydrogenase (PDH) complex Signaling by Retinoic Acid	4-[(3-CHLORO-4-{[(2R)-3,3,3-TRIFLUORO-2-HYDROXY-2-METHYLPROPANOYL]AMINO}PHENYL)SULFONYL]-N,N-DIMETHYLBENZAMIDE Dichloroacetic Acid
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)
PIGS	phosphatidylinositol glycan anchor biosynthesis class S	Attachment of GPI anchor to uPAR
RUNX1	RUNX family transcription factor 1	Pre-NOTCH Transcription and Translation Organic cation transport 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		Chronic myeloid leukemia (CML) Thrombocytopenia (THC); Familial platelet disorder with associated myeloid malignancy (FPDMM) Acute myeloid leukemia (AML) Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)

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